BMP2 Chromosome 20

Bone morphogenetic protein 2

31 variants 31 Health Risk

Upload your DNA to see your personal genotypes for variants in BMP2.

What This Gene Does

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]

Gene Info

Gene Group

Bone morphogenetic proteins

Locus Type

gene with protein product

Location

20p12.3

Ensembl

ENSG00000125845

Associated Conditions (11)

BMP2-related disorder

Inborn genetic diseases

Short stature

facial dysmorphism

and skeletal anomalies with or without cardiac anomalies 1

and skeletal anomalies with or without cardiac anomalies

Type A2 brachydactyly

Dextro-looped transposition of the great arteries

Ventricular septal defect 1

Atrial septal defect 1

Craniosynostosis 7

Key Variants

RS143654141

Conflicting classifications of pathogenicity

Health Risk

RS147542801

Conflicting classifications of pathogenicity

Health Risk

RS149465465

Conflicting classifications of pathogenicity

Health Risk

RS201118225

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1236079340

Likely pathogenic

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1

Health Risk

RS1555785715

Likely pathogenic

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies

Health Risk

RS1555786156

Likely pathogenic

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies

Health Risk

RS1600173481

Likely pathogenic

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies

Health Risk

Health Risk

Health Risk

Health Risk

Health Risk

All Variants (31)

RSID	Category	Clinical Significance	Conditions
RS143654141	Health Risk	Conflicting classifications of pathogenicity	—
RS147542801	Health Risk	Conflicting classifications of pathogenicity	—
RS149465465	Health Risk	Conflicting classifications of pathogenicity	BMP2-related disorder, BMP2-related disorder
RS201118225	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1236079340	Health Risk	Likely pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
RS1555785715	Health Risk	Likely pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
RS1555786156	Health Risk	Likely pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
RS1600173481	Health Risk	Likely pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
RS1986549885	Health Risk	Likely pathogenic	—
RS2514427113	Health Risk	Likely pathogenic	BMP2-related disorder, BMP2-related disorder
RS2514530688	Health Risk	Likely pathogenic	BMP2-related disorder, BMP2-related disorder
RS1197846053	Health Risk	Pathogenic	—
RS1343341933	Health Risk	Pathogenic	—
RS1464127693	Health Risk	Pathogenic	—
RS1555786145	Health Risk	Pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
RS1600170070	Health Risk	Pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
RS2122376439	Health Risk	Pathogenic	—
RS2122377023	Health Risk	Pathogenic	—
RS2122390899	Health Risk	Pathogenic	—
RS2514426566	Health Risk	Pathogenic	Type A2 brachydactyly, Short stature, facial dysmorphism
RS2514426884	Health Risk	Pathogenic	—
RS2514427047	Health Risk	Pathogenic	Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2514427081	Health Risk	Pathogenic	Ventricular septal defect 1, Ventricular septal defect 1
RS2514427148	Health Risk	Pathogenic	Atrial septal defect 1, Atrial septal defect 1
RS2514530484	Health Risk	Pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
RS1057523275	Health Risk	Pathogenic/Likely pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
RS1600173184	Health Risk	Pathogenic/Likely pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
RS2514426253	Health Risk	Pathogenic/Likely pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
RS2514426680	Health Risk	Pathogenic/Likely pathogenic	—
RS886043711	Health Risk	Pathogenic/Likely pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
RS1884302	Health Risk	risk factor	Craniosynostosis 7, Craniosynostosis 7