BMP5 bone morphogenetic protein 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BMP5provided by HGNC
Official Full Name: bone morphogenetic protein 5provided by HGNC
Primary source: HGNC:HGNC:1072
See related: Ensembl:ENSG00000112175 MIM:112265; AllianceGenome:HGNC:1072
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
Expression: Biased expression in placenta (RPKM 11.7), lung (RPKM 3.1) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (55753653..55875590, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (55593278..55715204, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (55618451..55740388, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

G9a Knockdown Suppresses Cancer Aggressiveness by Facilitating Smad Protein Phosphorylation through Increasing BMP5 Expression in Luminal A Type Breast Cancer.
Title: G9a Knockdown Suppresses Cancer Aggressiveness by Facilitating Smad Protein Phosphorylation through Increasing BMP5 Expression in Luminal A Type Breast Cancer.
Detection of circulating BMP5 as a risk factor for Barrett's esophagus.
Title: Detection of circulating BMP5 as a risk factor for Barrett's esophagus.
Our results indicate significant association of rs1470527 and rs9382564 polymorphism of BMP5 gene with KOA [knee Osteoarthritis ]
Title: Evaluation of the association between a single-nucleotide polymorphism of bone morphogenetic proteins 5 gene and risk of knee osteoarthritis.
The tumor suppressor role of BMP5 highlights its crucial role in CRC initiation and development.
Title: Alteration of tumor suppressor BMP5 in sporadic colorectal cancer: a genomic and transcriptomic profiling based study.
Suggest a significant role of miR-32/BMP5 axis in colorectal cancer tumorigenesis.
Title: MiR-32 promotes tumorigenesis of colorectal cancer by targeting BMP5.
findings suggested that BMP5 might be a potential prognostic biomarker or therapeutic target for patients with NSCLC
Title: Differential expression of bone morphogenetic protein 5 in human lung squamous cell carcinoma and adenocarcinoma.
Our results showed that ASPN rs13301537 T to C change and variant C genotype may contribute to knee OA risk in a Chinese Han population.
Title: Association between single nucleotide polymorphisms of asporin (ASPN) and BMP5 with the risk of knee osteoarthritis in a Chinese Han population.
Data indicate significant association between the bone morphogenetic protein 5 (BMP5) microsatellite and knee osteoarthritis (OA) in women, but not in men.
Title: Association of a BMP5 microsatellite with knee osteoarthritis: case-control study.
BMP5, is elevated in the stenotic colon segment of Hirschsprung disease patients, and BMP5 signaling may play a pivotal role in disease development.
Title: Expression analysis of BMP2, BMP5, BMP10 in human colon tissues from Hirschsprung disease patients.
BMP5 and BMP7, involved in cardiomyocyte differentiation defect
Title: Genome-wide study reveals an important role of spontaneous autoimmunity, cardiomyocyte differentiation defect and anti-angiogenic activities in gender-specific gene expression in Keshan disease.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M60314 (e-PCR)
- UniSTS:59685

RH35693 (e-PCR)
- UniSTS:74858

D6S1661 (e-PCR), detects polymorphism
- UniSTS:54135

D6S1276 (e-PCR), detects polymorphism
- UniSTS:18620

RH122491 (e-PCR)
- UniSTS:135364

PMC56999P1 (e-PCR)
- UniSTS:273363

RH71440 (e-PCR)
- UniSTS:76014

AL035197 (e-PCR)
- UniSTS:94703

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BMP receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in allantois development	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterior head development	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in chorio-allantoic fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in ear development	IEA Inferred from Electronic Annotation more info
involved_in endocardial cushion formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart trabecula morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in hindbrain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in male genitalia development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of aldosterone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cortisol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of epithelial to mesenchymal transition	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of insulin-like growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mononuclear cell migration	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of steroid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in neural fold elevation formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in pattern specification process	IEA Inferred from Electronic Annotation more info
involved_in pericardium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in pharyngeal system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of dendrite development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal system development	NAS Non-traceable Author Statement more info	PubMed
involved_in type B pancreatic cell development	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info
located_in vesicle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: bone morphogenetic protein 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001329754.2 → NP_001316683.1 bone morphogenetic protein 5 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AK291559, AK303576, AL133386, BC027958, BE501543, BQ025899, DA833638

UniProtKB/TrEMBL

A8K694

Conserved Domains (2) summary

pfam00019
Location:353 → 416

TGF_beta; Transforming growth factor beta like domain

pfam00688
Location:31 → 304

TGFb_propeptide; TGF-beta propeptide
NM_001329756.2 → NP_001316685.1 bone morphogenetic protein 5 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate exons in the 3' coding region, resulting in a frameshift and an early stop codon compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AL133386, AL137178, BQ025899

Conserved Domains (1) summary

pfam00688
Location:31 → 304

TGFb_propeptide; TGF-beta propeptide
NM_021073.4 → NP_066551.1 bone morphogenetic protein 5 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_066551.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK291559, AK303576, AL133386, BC027958, BE501543, BQ025899, DA833638

Consensus CDS

CCDS4958.1

UniProtKB/Swiss-Prot

B4E0Y4, P22003, Q9H547, Q9NTM5

UniProtKB/TrEMBL

A8K694, M9VUD0

Related

ENSP00000359866.3, ENST00000370830.4

Conserved Domains (2) summary

cd19395
Location:342 → 454

TGF_beta_BMP5; transforming growth factor beta (TGF-beta) like domain found in bone morphogenetic protein 5 (BMP-5) and similar proteins

pfam00688
Location:32 → 304

TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

55753653..55875590 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514817.4 → XP_011513119.1 bone morphogenetic protein 5 isoform X1

Conserved Domains (1) summary

pfam00688
Location:31 → 304

TGFb_propeptide; TGF-beta propeptide
XM_024446524.2 → XP_024302292.1 bone morphogenetic protein 5 isoform X2

Conserved Domains (1) summary

pfam00688
Location:31 → 229

TGFb_propeptide; TGF-beta propeptide