BMP5 - bone morphogenetic protein 5 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 653

About BMP5

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:55,753,653-55,875,590 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues, 31 paralogues and is associated with 70 phenotypes. Biased expression in placenta (RPKM 11.7), lung (RPKM 3.1) and 7 other tissues.

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]

BMP5 Products (3)

mRNA Protein Name
NM_001329754.2 NP_001316683.1 bone morphogenetic protein 5 isoform 2 precursor
NM_001329756.2 NP_001316685.1 bone morphogenetic protein 5 isoform 3 precursor
NM_021073.4 NP_066551.1 bone morphogenetic protein 5 isoform 1 preproprotein
Molecular Function GO Annotation Evidence References Source
enables BMP receptor binding IDA
IDA: Inferred from direct assay
7811286 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
30097509 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BMP5 Protein Structure

TGFb_propeptide

TGFb_propeptide: TGF-beta propeptide (31 - 304)

TGF_beta

TGF_beta: Transforming growth factor beta like domain (351 - 454)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 454 a.a.
Protein Preferred Names Protein Names

bone morphogenetic protein 5

BMP5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BMP5 P22003 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
BMP5 P22003 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
BMP5 P22003 MEOX2 Homo sapiens Q6FHY5 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BMP5 Proteins

Cat. No. Product Name Accession Purity
HY-P75472 BMP-5 Protein, Human (HEK293, hFc) NP_066551.1 (Q324-H454) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P700028AF Animal-Free BMP-5 Protein, Human (His) P22003 (A317-H454) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Osteoarthritis
  • Osteoarthrosis

  • Degenerative Joint Disease

  • Hypertrophic Arthritis

  • Arthropathy

  • Degenerative Polyarthritis

  • Degenerative Arthritis

  • Osteoarthrosis And Allied Disorder

  • Arthritis, Degenerative

  • Oa

  • Osteoarthritis Deformans

  • Osteoarthrosis Deformans

  • Kashin-Beck Disease

Cardiomyopathy, Familial Restrictive, 3
  • RCM3

  • Restrictive Cardiomyopathy 3

  • Familial Restrictive Cardiomyopathy 3

  • Cardiomyopathy, Familial Restrictive 3

  • Cardiomyopathy, Restrictive, Familial, Type 3

Witkop Syndrome
  • Tooth And Nail Syndrome

  • Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome

  • Tns

  • Ectodermal Dysplasia 3, Witkop Type

  • ECTD3

  • Ectodermal Dysplasia 3, Tooth/Nail Type

  • Tooth-And-Nail Syndrome

  • Dysplasia Of Nails With Hypodontia

  • Nail Dysplasia With Hypodontia

  • Witkop'S Syndrome

  • Hypodontia - Dysplasia Of Nails

  • Hypodontia-Dysplasia Of Nails Syndrome

  • Hypodontia-Nail Dysgenesis Syndrome

  • Hypodontia-Nail Dysgenesis

Nephrosclerosis
  • Renal Sclerosis

Cardiomyopathy, Familial Restrictive, 2
  • RCM2

  • Restrictive Cardiomyopathy 2

  • Familial Restrictive Cardiomyopathy 2

  • Cardiomyopathy, Restrictive, Familial, Type 2

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
  • Weissenbacher-Zweymuller Syndrome

  • Wzs

  • Pierre Robin Syndrome With Fetal Chondrodysplasia

  • OSMEDA

  • Weissenbacher-Zweymüller Syndrome

  • Heterozygous Osmed

  • Stickler Syndrome, Type 3

  • Osmed, Heterozygous

  • Pierre Robin Syndrome With Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly

  • Stickler Syndrome, Type Iii, Formerly

  • Stl3, Formerly

  • Piere-Robin Syndrome

  • Pierre Robin Malformation

  • Heterozygous Otospondylomegaepiphyseal Dysplasia

  • Autosomal Dominant Otospondylomegaepiphyseal Dysplasia

  • Ad Osmed

  • Stickler Syndrome Type 3

  • Stickler Syndrome, Non-Ocular Type

  • Stickler-Like Syndrome

  • Stickler Syndrome 3

  • Stickler Syndrome Non-Ocular Type

  • Stickler Syndrome Type Iii

  • Stl3

  • Weissenbacher-Zweymueller Syndrome

  • Stickler Syndrome, Type Iii

  • Pierre Robin Syndrome

  • Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant

Brachydactyly, Type A2
  • Brachydactyly Type A2

  • BDA2

  • Mohr-Wriedt Type Brachydactyly

  • Brachymesophalangy Ii

  • Brachymesophalangy Type 2

  • Brachymesophalangy 2

  • Brachydactyly, Mohr-Wriedt Type

  • Brachydactyly A2

Otosclerosis
  • Otospongiosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus BMP5 MGD MGI:88181
Rattus norvegicus BMP5 RGD RGD:1305979
Canis familiaris BMP5 VGNC VGNC:38481
Felis catus BMP5 VGNC VGNC:60134
Macaca mulatta BMP5 VGNC VGNC:70264
Bos taurus BMP5 VGNC VGNC:26520
Others BMP5 NCBI