8E3G | pdb_00008e3g

BMP2/GDF5 heterodimer

External Resource: Annotation

Domain Annotation: SCOP2 Classification
Domain Annotation: ECOD Classification
Protein Family Annotation
Gene Ontology: Gene Product Annotation
InterPro: Protein Family Classification
Pharos: Disease Associations

Domain Annotation: SCOP2 Classification SCOP2 Database Homepage

Chains	Type	Family Name	Domain Identifier	Family Identifier	Provenance Source (Version)
A	SCOP2B Superfamily	Cystine-knot cytokines	8042164	3000846	SCOP2B (2022-06-29)
C	SCOP2B Superfamily	Cystine-knot cytokines	8042164	3000846	SCOP2B (2022-06-29)
B	SCOP2B Superfamily	Cystine-knot cytokines	8070313	3000846	SCOP2B (2022-06-29)
D	SCOP2B Superfamily	Cystine-knot cytokines	8070313	3000846	SCOP2B (2022-06-29)

Domain Annotation: ECOD Classification ECOD Database Homepage

Chains	Family Name	Domain Identifier	Architecture	Possible Homology	Homology	Topology	Family	Provenance Source (Version)
A	TGF_beta	e8e3gA1	A: few secondary structure elements	X: Cystine-knot cytokines (From Topology)	H: Cystine-knot cytokines (From Topology)	T: Cystine-knot cytokines	F: TGF_beta	ECOD (1.6)
C	TGF_beta	e8e3gC1	A: few secondary structure elements	X: Cystine-knot cytokines (From Topology)	H: Cystine-knot cytokines (From Topology)	T: Cystine-knot cytokines	F: TGF_beta	ECOD (1.6)
B	TGF_beta	e8e3gB1	A: few secondary structure elements	X: Cystine-knot cytokines (From Topology)	H: Cystine-knot cytokines (From Topology)	T: Cystine-knot cytokines	F: TGF_beta	ECOD (1.6)
D	TGF_beta	e8e3gD1	A: few secondary structure elements	X: Cystine-knot cytokines (From Topology)	H: Cystine-knot cytokines (From Topology)	T: Cystine-knot cytokines	F: TGF_beta	ECOD (1.6)

Protein Family Annotation Pfam Database Homepage

Chains	Accession	Name	Description	Comments	Source
A, C	PF00019	Transforming growth factor beta like domain (TGF_beta)	Transforming growth factor beta like domain		Domain
B, D	PF00019	Transforming growth factor beta like domain (TGF_beta)	Transforming growth factor beta like domain		Domain

Gene Ontology: Gene Product Annotation Gene Ontology Database Homepage

Chains	Polymer	Molecular Function	Biological Process	Cellular Component
A, C	Bone morphogenetic protein 2	phosphoric ester hydrolase activity enzyme regulator activity phosphatase activator activity molecular function activator activity phosphatase regulator activity phosphatase activity hydrolase activity enzyme activator activity hydrolase activity, acting on ester bonds molecular function regulator activity catalytic activity protein serine/threonine kinase activity protein serine/threonine kinase activator activity catalytic activity, acting on a protein phosphoric ester hydrolase activity enzyme regulator activity phosphatase activator activity molecular function activator activity phosphatase regulator activity phosphatase activity hydrolase activity enzyme activator activity hydrolase activity, acting on ester bonds molecular function regulator activity catalytic activity protein serine/threonine kinase activity protein serine/threonine kinase activator activity catalytic activity, acting on a protein kinase activity protein kinase activity transferase activity protein kinase regulator activity phosphotransferase activity, alcohol group as acceptor transferase activity, transferring phosphorus-containing groups kinase activator activity protein kinase activator activity kinase regulator activity protein binding binding signaling receptor binding BMP receptor binding receptor serine/threonine kinase binding transmembrane receptor protein serine/threonine kinase binding co-receptor binding molecular transducer activity signaling receptor activity growth factor activity signaling receptor activator activity signaling receptor regulator activity receptor ligand activity cytokine activity	cellular response to stimulus positive regulation of cell communication cell surface receptor protein serine/threonine kinase signaling pathway regulation of cellular process positive regulation of signal transduction response to stimulus signaling regulation of transmembrane receptor protein serine/threonine kinase signaling pathway positive regulation of biological process regulation of signal transduction intracellular signal transduction cell communication positive regulation of response to stimulus regulation of intracellular signal transduction intracellular signaling cassette cellular response to stimulus positive regulation of cell communication cell surface receptor protein serine/threonine kinase signaling pathway regulation of cellular process positive regulation of signal transduction response to stimulus signaling regulation of transmembrane receptor protein serine/threonine kinase signaling pathway positive regulation of biological process regulation of signal transduction intracellular signal transduction cell communication positive regulation of response to stimulus regulation of intracellular signal transduction intracellular signaling cassette signal transduction enzyme-linked receptor protein signaling pathway positive regulation of cellular process regulation of biological process regulation of signaling cell surface receptor signaling pathway biological regulation positive regulation of intracellular signal transduction positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway SMAD protein signal transduction regulation of response to stimulus regulation of cell communication cellular process regulation of SMAD protein signal transduction positive regulation of SMAD protein signal transduction positive regulation of signaling developmental process heart development multicellular organism development multicellular organismal process anatomical structure development animal organ development circulatory system development system development ossification bone mineralization biomineral tissue development tissue development regulation of developmental process cellular developmental process negative regulation of biological process negative regulation of muscle cell differentiation regulation of cell differentiation regulation of striated muscle cell differentiation regulation of cardiac muscle cell differentiation muscle cell differentiation striated muscle tissue development muscle structure development cell differentiation negative regulation of cardiac muscle cell differentiation negative regulation of cellular process negative regulation of cell differentiation regulation of multicellular organismal process muscle tissue development negative regulation of cardiocyte differentiation cardiac muscle tissue development negative regulation of developmental process negative regulation of striated muscle cell differentiation cardiac muscle cell differentiation cardiocyte differentiation regulation of muscle cell differentiation regulation of cardiocyte differentiation striated muscle cell differentiation negative regulation of multicellular organismal process regulation of animal organ morphogenesis regulation of odontogenesis odontogenesis positive regulation of odontogenesis positive regulation of developmental process anatomical structure morphogenesis positive regulation of animal organ morphogenesis positive regulation of multicellular organismal process animal organ morphogenesis regulation of anatomical structure morphogenesis corticotropin hormone secreting cell differentiation head development forebrain development endocrine system development pituitary gland development gland development brain development diencephalon development nervous system development central nervous system development adenohypophysis development regulation of localization regulation of cellular component organization positive regulation of cellular component organization transport positive regulation of extracellular matrix constituent secretion positive regulation of extracellular matrix organization extracellular matrix organization positive regulation of secretion by cell cellular component organization localization regulation of secretion by cell secretion by cell positive regulation of secretion cellular component organization or biogenesis regulation of extracellular matrix constituent secretion extracellular structure organization regulation of transport secretion export from cell establishment of localization regulation of secretion positive regulation of transport extracellular matrix constituent secretion regulation of extracellular matrix organization external encapsulating structure organization regulation of biomineral tissue development regulation of bone mineralization positive regulation of ossification positive regulation of biomineral tissue development regulation of multicellular organismal development positive regulation of bone mineralization regulation of ossification mesenchyme morphogenesis endocardial cushion morphogenesis heart morphogenesis mesenchyme development endocardial cushion formation tissue morphogenesis endocardial cushion development anatomical structure formation involved in morphogenesis positive regulation of DNA-templated transcription RNA metabolic process positive regulation of miRNA transcription positive regulation of miRNA metabolic process positive regulation of macromolecule biosynthetic process regulation of primary metabolic process nucleobase-containing compound metabolic process RNA biosynthetic process DNA-templated transcription nucleic acid biosynthetic process positive regulation of metabolic process regulation of RNA metabolic process miRNA transcription positive regulation of biosynthetic process regulation of miRNA metabolic process positive regulation of macromolecule metabolic process regulation of nucleobase-containing compound metabolic process miRNA metabolic process regulation of RNA biosynthetic process regulation of biosynthetic process positive regulation of nucleobase-containing compound metabolic process primary metabolic process regulation of macromolecule metabolic process nucleobase-containing compound biosynthetic process gene expression macromolecule biosynthetic process nucleic acid metabolic process positive regulation of RNA metabolic process regulation of gene expression biosynthetic process positive regulation of RNA biosynthetic process metabolic process regulation of macromolecule biosynthetic process macromolecule metabolic process regulation of DNA-templated transcription regulation of metabolic process regulation of miRNA transcription intracellular receptor signaling pathway positive regulation of peroxisome proliferator activated receptor signaling pathway peroxisome proliferator activated receptor signaling pathway regulation of peroxisome proliferator activated receptor signaling pathway nuclear receptor-mediated signaling pathway cell population proliferation positive regulation of cell population proliferation positive regulation of osteoblast proliferation osteoblast proliferation regulation of cell population proliferation regulation of osteoblast proliferation cell fate commitment anterior/posterior pattern specification pattern specification process regionalization embryonic heart tube anterior/posterior pattern specification connective tissue development skeletal system development chondrocyte differentiation cartilage development negative regulation of RNA biosynthetic process transcription by RNA polymerase II negative regulation of nucleobase-containing compound metabolic process negative regulation of macromolecule metabolic process regulation of transcription by RNA polymerase II negative regulation of DNA-templated transcription negative regulation of transcription by RNA polymerase II negative regulation of metabolic process negative regulation of biosynthetic process negative regulation of macromolecule biosynthetic process negative regulation of RNA metabolic process Notch signaling pathway carbohydrate derivative metabolic process protein metabolic process proteoglycan metabolic process glycoprotein metabolic process fat cell differentiation negative regulation of fat cell differentiation regulation of fat cell differentiation epithelium development pericardium development positive regulation of ERK1 and ERK2 cascade positive regulation of MAPK cascade regulation of MAPK cascade MAPK cascade ERK1 and ERK2 cascade regulation of ERK1 and ERK2 cascade muscle tissue morphogenesis cardiac muscle tissue morphogenesis muscle organ development muscle organ morphogenesis endodermal-mesodermal cell signaling cell-cell signaling regulation of epithelial to mesenchymal transition positive regulation of epithelial to mesenchymal transition positive regulation of cell differentiation epithelial to mesenchymal transition mesenchymal cell differentiation negative regulation of small molecule metabolic process regulation of hormone biosynthetic process regulation of lipid metabolic process negative regulation of lipid biosynthetic process negative regulation of hormone biosynthetic process regulation of small molecule metabolic process negative regulation of aldosterone biosynthetic process negative regulation of aldosterone metabolic process small molecule metabolic process regulation of biological quality primary alcohol biosynthetic process hormone biosynthetic process negative regulation of steroid hormone biosynthetic process regulation of steroid hormone biosynthetic process negative regulation of steroid metabolic process regulation of alcohol biosynthetic process olefinic compound biosynthetic process regulation of hormone levels C21-steroid hormone biosynthetic process regulation of ketone metabolic process negative regulation of alcohol biosynthetic process regulation of aldosterone biosynthetic process negative regulation of hormone metabolic process negative regulation of lipid metabolic process regulation of steroid biosynthetic process mineralocorticoid biosynthetic process regulation of hormone metabolic process ketone metabolic process steroid metabolic process lipid biosynthetic process alcohol metabolic process C21-steroid hormone metabolic process aldehyde biosynthetic process mineralocorticoid metabolic process aldosterone metabolic process steroid biosynthetic process steroid hormone biosynthetic process small molecule biosynthetic process aldosterone biosynthetic process regulation of ketone biosynthetic process regulation of steroid metabolic process hormone metabolic process aldehyde metabolic process regulation of aldosterone metabolic process alcohol biosynthetic process negative regulation of steroid biosynthetic process olefinic compound metabolic process regulation of lipid biosynthetic process ketone biosynthetic process lipid metabolic process primary alcohol metabolic process cardiac atrium formation cardiac chamber morphogenesis cardiac atrium morphogenesis cardiac chamber formation cardiac atrium development cardiac chamber development thyroid-stimulating hormone-secreting cell differentiation epithelial cell differentiation neurogenesis neuron differentiation neuroepithelial cell differentiation neuroendocrine cell differentiation generation of neurons glandular epithelial cell differentiation columnar/cuboidal epithelial cell differentiation telencephalon regionalization forebrain regionalization telencephalon development regulation of phosphatase activity regulation of catalytic activity positive regulation of phosphate metabolic process positive regulation of molecular function regulation of phosphate metabolic process phosphate-containing compound metabolic process positive regulation of phosphatase activity phosphorus metabolic process positive regulation of phosphorus metabolic process positive regulation of dephosphorylation regulation of dephosphorylation dephosphorylation positive regulation of catalytic activity regulation of molecular function positive regulation of hydrolase activity regulation of hydrolase activity regulation of phosphorus metabolic process positive regulation of odontoblast differentiation regulation of epithelial cell differentiation odontoblast differentiation regulation of odontoblast differentiation positive regulation of epithelial cell differentiation positive regulation of neuroepithelial cell differentiation positive regulation of locomotion regulation of cell motility positive regulation of cell migration regulation of locomotion positive regulation of cell motility regulation of cell migration cell migration cell motility locomotion p38MAPK cascade positive regulation of p38MAPK cascade regulation of p38MAPK cascade myeloid leukocyte differentiation hemopoiesis cell development myeloid cell differentiation osteoclast differentiation leukocyte differentiation defense response response to stress inflammatory response cortisol metabolic process tertiary alcohol metabolic process glucocorticoid metabolic process glucocorticoid biosynthetic process regulation of cortisol biosynthetic process negative regulation of cortisol biosynthetic process regulation of glucocorticoid metabolic process regulation of glucocorticoid biosynthetic process negative regulation of glucocorticoid biosynthetic process negative regulation of glucocorticoid metabolic process cortisol biosynthetic process tertiary alcohol biosynthetic process negative regulation of gene expression ameloblast differentiation positive regulation of nervous system development astrocyte differentiation regulation of neurogenesis regulation of gliogenesis regulation of astrocyte differentiation positive regulation of gliogenesis regulation of cell development regulation of nervous system development gliogenesis positive regulation of neurogenesis positive regulation of astrocyte differentiation positive regulation of cell development regulation of glial cell differentiation positive regulation of glial cell differentiation glial cell differentiation cellular response to BMP stimulus cellular response to endogenous stimulus response to BMP cellular response to growth factor stimulus response to endogenous stimulus response to growth factor protein destabilization regulation of protein stability positive regulation of gene expression ear development sensory organ development inner ear development bone development negative regulation of signaling regulation of canonical Wnt signaling pathway canonical Wnt signaling pathway negative regulation of cell communication negative regulation of Wnt signaling pathway Wnt signaling pathway regulation of Wnt signaling pathway negative regulation of response to stimulus negative regulation of signal transduction negative regulation of canonical Wnt signaling pathway negative regulation of cell cycle cell cycle regulation of cell cycle positive regulation of programmed cell death regulation of apoptotic process regulation of programmed cell death cell death positive regulation of apoptotic process apoptotic process programmed cell death ureteric bud development mesonephric epithelium development kidney epithelium development mesenchymal cell proliferation involved in ureteric bud development mesonephros development tube development cell proliferation involved in kidney development renal system development mesenchymal cell proliferation cell proliferation involved in mesonephros development kidney development mesonephric tubule development embryo development ending in birth or egg hatching chordate embryonic development embryo development in utero embryonic development regulation of calcium-independent cell-cell adhesion regulation of cell adhesion negative regulation of cell adhesion cell adhesion cell-cell adhesion negative regulation of cell-cell adhesion calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules regulation of cell-cell adhesion negative regulation of calcium-independent cell-cell adhesion cell-cell adhesion via plasma-membrane adhesion molecules negative regulation of transforming growth factor beta receptor signaling pathway cellular response to transforming growth factor beta stimulus regulation of transforming growth factor beta receptor signaling pathway regulation of cellular response to transforming growth factor beta stimulus regulation of cellular response to growth factor stimulus response to transforming growth factor beta transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor superfamily signaling pathway negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway positive regulation of Wnt signaling pathway cardiac epithelial to mesenchymal transition response to decreased oxygen levels response to hypoxia response to oxygen levels response to abiotic stimulus positive regulation of fat cell differentiation nephron morphogenesis branching morphogenesis of an epithelial tube nephron tubule morphogenesis nephron epithelium morphogenesis nephron tubule development ureteric bud morphogenesis tube morphogenesis branching involved in ureteric bud morphogenesis renal tubule development epithelial tube morphogenesis nephron development nephron epithelium development morphogenesis of an epithelium kidney morphogenesis morphogenesis of a branching structure mesonephric tubule morphogenesis renal tubule morphogenesis morphogenesis of a branching epithelium cardiac jelly development positive regulation of transcription by RNA polymerase II heart induction specification of animal organ identity developmental induction animal organ formation heart formation regulation of animal organ formation organ induction regulation of heart morphogenesis heart field specification regulation of odontogenesis of dentin-containing tooth odontogenesis of dentin-containing tooth regulation of cartilage development positive regulation of cartilage development osteoblast differentiation BMP signaling pathway negative regulation of cell population proliferation regulation of smooth muscle cell proliferation smooth muscle cell proliferation negative regulation of smooth muscle cell proliferation muscle cell proliferation bone maturation regulation of bone mineralization involved in bone maturation positive regulation of bone mineralization involved in bone maturation ossification involved in bone maturation bone mineralization involved in bone maturation developmental maturation anatomical structure maturation animal organ maturation positive regulation of neuron differentiation regulation of neuron differentiation regulation of osteoblast differentiation positive regulation of osteoblast differentiation biological process involved in interspecies interaction between organisms response to other organism response to bacterium response to external stimulus response to external biotic stimulus response to biotic stimulus cell surface receptor protein tyrosine kinase signaling pathway regulation of insulin-like growth factor receptor signaling pathway insulin-like growth factor receptor signaling pathway negative regulation of insulin-like growth factor receptor signaling pathway positive regulation of phosphorylation regulation of protein modification process regulation of protein phosphorylation positive regulation of protein metabolic process positive regulation of protein modification process positive regulation of protein phosphorylation protein modification process protein phosphorylation phosphorylation regulation of protein metabolic process macromolecule modification regulation of phosphorylation heart valve development aortic valve development semi-lunar valve development atrioventricular canal morphogenesis atrioventricular canal development respiratory tube development vasculature development lung vasculature development lung development respiratory system development atrioventricular valve development heart valve morphogenesis atrioventricular valve morphogenesis	cell periphery protein-containing complex cellular anatomical structure plasma membrane protein complex membrane plasma membrane plasma membrane signaling receptor complex membrane protein complex BMP receptor complex receptor complex extracellular region extracellular space cell surface membrane-bounded organelle cell periphery protein-containing complex cellular anatomical structure plasma membrane protein complex membrane plasma membrane plasma membrane signaling receptor complex membrane protein complex BMP receptor complex receptor complex extracellular region extracellular space cell surface membrane-bounded organelle intracellular organelle intracellular anatomical structure organelle intracellular membrane-bounded organelle
B, D	Growth/differentiation factor 5	molecular transducer activity binding molecular function activator activity signaling receptor binding signaling receptor activity growth factor activity signaling receptor activator activity protein binding molecular function regulator activity signaling receptor regulator activity receptor ligand activity BMP binding cytokine binding cytokine activity molecular transducer activity binding molecular function activator activity signaling receptor binding signaling receptor activity growth factor activity signaling receptor activator activity protein binding molecular function regulator activity signaling receptor regulator activity receptor ligand activity BMP binding cytokine binding cytokine activity identical protein binding	cellular response to stimulus positive regulation of cell communication cell surface receptor protein serine/threonine kinase signaling pathway regulation of cellular process positive regulation of signal transduction response to stimulus signaling regulation of transmembrane receptor protein serine/threonine kinase signaling pathway positive regulation of biological process regulation of signal transduction intracellular signal transduction cell communication positive regulation of response to stimulus regulation of intracellular signal transduction intracellular signaling cassette cellular response to stimulus positive regulation of cell communication cell surface receptor protein serine/threonine kinase signaling pathway regulation of cellular process positive regulation of signal transduction response to stimulus signaling regulation of transmembrane receptor protein serine/threonine kinase signaling pathway positive regulation of biological process regulation of signal transduction intracellular signal transduction cell communication positive regulation of response to stimulus regulation of intracellular signal transduction intracellular signaling cassette signal transduction enzyme-linked receptor protein signaling pathway positive regulation of cellular process regulation of biological process regulation of signaling cell surface receptor signaling pathway biological regulation positive regulation of intracellular signal transduction positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway SMAD protein signal transduction regulation of response to stimulus regulation of cell communication cellular process regulation of SMAD protein signal transduction positive regulation of SMAD protein signal transduction positive regulation of signaling cellular response to BMP stimulus cellular response to growth factor stimulus response to endogenous stimulus cellular response to endogenous stimulus response to BMP transforming growth factor beta receptor superfamily signaling pathway response to growth factor BMP signaling pathway developmental process multicellular organismal process cellular developmental process connective tissue development animal organ development tissue development chondroblast differentiation multicellular organism development skeletal system development cell differentiation anatomical structure development cartilage development system development cell-cell signaling regulation of cartilage development regulation of chondrocyte differentiation regulation of developmental process regulation of cell differentiation positive regulation of chondrocyte differentiation positive regulation of developmental process positive regulation of cell differentiation regulation of multicellular organismal process regulation of multicellular organismal development chondrocyte differentiation positive regulation of multicellular organismal process positive regulation of cartilage development neuron apoptotic process negative regulation of neuron apoptotic process negative regulation of programmed cell death regulation of apoptotic process negative regulation of biological process regulation of programmed cell death cell death negative regulation of apoptotic process negative regulation of cellular process apoptotic process programmed cell death regulation of neuron apoptotic process limb development appendage development embryonic limb morphogenesis embryonic morphogenesis embryonic appendage morphogenesis embryo development anatomical structure morphogenesis appendage morphogenesis limb morphogenesis regulation of multicellular organism growth regulation of growth regulation of developmental growth developmental growth growth multicellular organism growth ossification tissue remodeling bone remodeling ossification involved in bone remodeling positive regulation of BMP signaling pathway regulation of BMP signaling pathway regulation of cellular response to growth factor stimulus response to mechanical stimulus response to abiotic stimulus response to external stimulus positive regulation of neuron differentiation neurogenesis neuron differentiation nervous system development generation of neurons regulation of neuron differentiation negative regulation of mesenchymal cell apoptotic process mesenchymal cell apoptotic process regulation of mesenchymal cell apoptotic process forelimb morphogenesis negative regulation of cartilage development negative regulation of chondrocyte differentiation negative regulation of cell differentiation negative regulation of developmental process negative regulation of multicellular organismal process negative regulation of cell population proliferation cell population proliferation regulation of cell population proliferation regulation of epithelial cell proliferation epithelial cell proliferation negative regulation of epithelial cell proliferation hindlimb morphogenesis cellular response to transforming growth factor beta stimulus response to transforming growth factor beta transforming growth factor beta receptor signaling pathway	cell periphery cellular anatomical structure plasma membrane membrane extracellular region extracellular space

InterPro: Protein Family Classification InterPro Database Homepage

Chains	Accession	Name	Type
A, C	IPR029034	Cystine-knot cytokine	Homologous Superfamily
A, C	IPR047953	Bone morphogenetic protein 2, TGF-beta-like domain	Domain
A, C	IPR017948	Transforming growth factor beta, conserved site	Conserved Site
A, C	IPR001839	Transforming growth factor-beta, C-terminal	Domain
A, C	IPR015615	Transforming growth factor-beta-related	Family
A, C	IPR001111	TGF-beta, propeptide	Domain
B, D	IPR029034	Cystine-knot cytokine	Homologous Superfamily
B, D	IPR015615	Transforming growth factor-beta-related	Family
B, D	IPR017948	Transforming growth factor beta, conserved site	Conserved Site
B, D	IPR001111	TGF-beta, propeptide	Domain
B, D	IPR001839	Transforming growth factor-beta, C-terminal	Domain

Pharos: Disease Associations Pharos Homepage Annotation

Chains	Drug Target	Associated Disease
A, C	Pharos: P12643	craniosynostosis hereditary hemochromatosis brachydactyly type A2 20p12.3 microdeletion syndrome bone disease myopia uremia breast carcinoma colorectal cancer Fracture osteosarcoma gastric neoplasm peripheral arterial disease hemochromatosis type 1 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies craniosynostosis hereditary hemochromatosis brachydactyly type A2 20p12.3 microdeletion syndrome bone disease myopia uremia breast carcinoma colorectal cancer Fracture osteosarcoma gastric neoplasm peripheral arterial disease hemochromatosis type 1 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies interstitial cystitis lung adenocarcinoma atopic eczema malignant colon neoplasm malignant mesothelioma non-small cell lung carcinoma ductal breast carcinoma in situ osteonecrosis ovarian cancer glioblastoma psoriasis hereditary diffuse gastric adenocarcinoma spina bifida invasive ductal breast carcinoma trigonocephaly lung cancer malignant ependymoma brachydactyly breast cancer colorectal adenoma Crohn disease oligodendroglioma esophageal adenocarcinoma osteoporosis gastric cancer pancreatic intraductal papillary-mucinous neoplasm pilocytic astrocytoma isolated right ventricular hypoplasia astrocytic tumor lung carcinoma bone fracture malignant glioma medulloblastoma nasopharyngeal carcinoma cutaneous lupus erythematosus osteoarthritis
B, D	Pharos: P43026	fibular hypoplasia and complex brachydactyly multiple synostoses syndrome 2 acromesomelic dysplasia, Hunter-Thompson type osteoarthritis symphalangism, proximal, 1B acromesomelic dysplasia, Grebe type brachydactyly type C proximal symphalangism brachydactyly type A1C brachydactyly type A2 rheumatoid arthritis developmental dysplasia of the hip 1 calcaneonavicular coalition brachydactyly Hip Dislocation, Congenital fibular hypoplasia and complex brachydactyly multiple synostoses syndrome 2 acromesomelic dysplasia, Hunter-Thompson type osteoarthritis symphalangism, proximal, 1B acromesomelic dysplasia, Grebe type brachydactyly type C proximal symphalangism brachydactyly type A1C brachydactyly type A2 rheumatoid arthritis developmental dysplasia of the hip 1 calcaneonavicular coalition brachydactyly Hip Dislocation, Congenital malignant mesothelioma osteoarthritis susceptibility 5 acromesomelic dysplasia osteogenesis imperfecta atypical teratoid rhabdoid tumor skin carcinoma intellectual disability multiple synostoses syndrome osteoarthritis, knee osteosarcoma proximal symphalangism 1A bone development disease brachydactyly type A1 large cell medulloblastoma multiple synostoses syndrome 1 osteoarthritis susceptibility 1 polydactyly angel-shaped phalango-epiphyseal dysplasia brachydactyly type A1A

RCSB PDB Core Operations are funded by the U.S. National Science Foundation (DBI-2321666), the US Department of Energy (DE-SC0019749), and the National Cancer Institute, National Institute of Allergy and Infectious Diseases, and National Institute of General Medical Sciences of the National Institutes of Health under grant R01GM157729.