1. Gene
  2. BMP5 - bone morphogenetic protein 5 Gene

BMP5 - bone morphogenetic protein 5 Gene

中文名称:骨形态发生蛋白 5

种属: Homo sapiens

基因 ID: 653 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 TGF-β (转化生长因子-β) 蛋白质超家族的分泌配体。该家族的配体结合各种 TGF-β 受体,导致调节基因表达的 SMAD 家族转录因子的募集和激活。编码的前原蛋白经过蛋白水解处理,生成二硫键连接的同源二聚体的每个亚基,在骨骼和软骨发育中发挥作用。该基因的多态性可能与人类患者的骨关节炎有关。该基因在多种人类癌症中受到差异调节。该基因编码不同的蛋白质同种型,这些同种型可能经过类似的蛋白水解处理。[RefSeq 提供,2016 年 7 月]

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 基因产物(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

BMP5 蛋白结构

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.
蛋白主名 其他名称

bone morphogenetic protein 5

重组 BMP5 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75472 BMP-5 Protein, Human (HEK293, hFc) NP_066551.1 (Q324-H454) ≥95%
HY-P700028AF Animal-Free BMP-5 Protein, Human (His) P22003 (A317-H454) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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