Gene: BMP4
Alternate names for this Gene: BMP2B|BMP2B1|MCOPS6|OFC11|ZYME
Gene Summary: 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. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers.
Gene is located in Chromosome: 14
Location in Chromosome : 14q22.2
Description of this Gene: bone morphogenetic protein 4
Type of Gene: protein-coding
rs35107139 in
BMP4 gene and
Adenocarcinoma of large intestine
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs35107139 in
BMP4 gene and
Adenoma of large intestine
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs35107139 in
BMP4 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs35107139 in
BMP4 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs35107139 in
BMP4 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs35107139 in
BMP4 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs35107139 in
BMP4 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs35107139 in
BMP4 gene and
Colorectal Neoplasms
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs2071047 in
BMP4 gene and
Glomerular Filtration Rate
PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.
rs121912765 in
BMP4 gene and
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
PMID 18252212 2008 Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
rs35107139 in
BMP4 gene and
Malignant neoplasm of large intestine
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs35107139 in
BMP4 gene and
Malignant tumor of colon
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs121912767 in
BMP4 gene and
OROFACIAL CLEFT 11
PMID 19249007 2009 Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
rs35107139 in
BMP4 gene and
peak expiratory flow (procedure)
PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.