2. Gene
  3. SMAD5 - SMAD family member 5 Gene

SMAD5 - SMAD family member 5 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：SMAD 家族成员 5

种属: Homo sapiens

同用名: DWFC; JV5-1; MADH5

基因 ID: 4090 | 基因类型: protein coding

关于 SMAD5

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:136,132,845-136,182,733 (from NCBI)

This gene has 12 transcripts (splice variants), 205 orthologues and 7 paralogues. Ubiquitous expression in endometrium (RPKM 14.1), ovary (RPKM 13.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质参与转化生长因子β信号通路，从而抑制造血祖细胞的增殖。编码的蛋白质被骨形态发生蛋白 1 型受体激酶激活，并可能与癌症有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 2 月]

The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in Cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SMAD5 基因产物(3)

mRNA Protein Name
NM_001001419.3 NP_001001419.1 mothers against decapentaplegic homolog 5
NM_001001420.3 NP_001001420.1 mothers against decapentaplegic homolog 5
NM_005903.7 NP_005894.3 mothers against decapentaplegic homolog 5
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DEAD/H-box RNA helicase binding IPI
IPI: 通过物理相互作用推断
18548003 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
28369590 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15231748 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
11278251 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within negative regulation of Fas signaling pathway IMP
IMP: 通过突变表型推断
26400397 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
26400397 GOA
acts upstream of negative regulation of gene expression IMP
IMP: 通过突变表型推断
26400397 GOA
involved in osteoblast differentiation IDA
IDA: 通过直接分析推断
30378100 GOA
involved in positive regulation of osteoblast differentiation IDA
IDA: 通过直接分析推断
32271402 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of protein-containing complex IDA
IDA: 通过直接分析推断
23610558 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SMAD5 蛋白结构

MH1

MH1: MH1 domain (32 - 132)

MH2

MH2: MH2 domain (266 - 438)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 464 a.a.
蛋白主名 其他名称

mothers against decapentaplegic homolog 5

MAD, mothers against decapentaplegic homolog 5

关联疾病

疾病名称 别名
Fibrodysplasia Ossificans Progressiva

Myositis Ossificans Progressiva

Progressive Myositis Ossificans

FOP

Progressive Ossifying Myositis

Myositis Ossificans

Stone Man Syndrome

Man Of Stone

Myositis Ossificans Progressive

Diffuse Progressive Ossifying Polymyositis

Fibrodysplasia Ossificans Congenita

Myositis Ossificans Progressiva, Site Unspecified

Münchmeyer Disease

Fop - [Fibrodysplasia Ossificans Progressiva]

Progressive Myositis Ossificans Calcification
Deafness, Autosomal Dominant 52

DFNA52

Autosomal Dominant Nonsyndromic Deafness 52

Deafness, Autosomal Dominant 42

Dfna42

Autosomal Dominant Deafness 52
Acromesomelic Dysplasia 2a

Chondrodysplasia, Grebe Type

Acromesomelic Dysplasia, Grebe Type

Grebe Chondrodysplasia

Amdg

Grebe Syndrome

AMD2A

Grebe Dysplasia

Achondrogenesis, Brazilian

Achondrogenesis, Type Ii, Formerly

Acromesomelic Dysplasia-2a

Achondrogenesis Type Ii

Brazilian Achondrogenesis

Acromesomelic Chondrodysplasia, Grebe Type
Cowden Syndrome 6

CWS6

Cowden Syndrome, Type 6
Geotrichosis
Arteriovenous Malformation

Arteriovenous Malformations

Arteriovenous Hemangioma

Cirsoid Aneurysm

Racemose Aneurysm

Racemose Angioma

Racemose Hemangioma

Congenital Arteriovenous Malformation
Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease

Hht

Osler-Weber-Rendu Disease

Telangiectasia, Hereditary Hemorrhagic

Osler Hemorrhagic Telangiectasia Syndrome

Orw Disease

Osler Weber Rendu Syndrome

Osler-Rendu-Weber Disease

Osler-Weber-Rendu Syndrome

Rendu-Osler Disease

Telangiectasia Hereditary Hemorrhagic

Telangiectasia Hemorrhagic, Hereditary

Hht - [Hereditary Haemorrhagic Telangiectasia]

Osler Haemorrhagic Telangiectasia Syndrome
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13396 SMAD5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SMAD5 VGNC VGNC:46522
Felis catus SMAD5 VGNC VGNC:68133
Bos taurus SMAD5 VGNC VGNC:34978
Rattus norvegicus SMAD5 RGD RGD:620158
Mus musculus SMAD5 MGD MGI:1328787
Macaca mulatta SMAD5 VGNC VGNC:77813
Others SMAD5 NCBI
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