SMAD5 - SMAD family member 5 Gene

Homo sapiens

Also known as DWFC; JV5-1; MADH5

Gene ID: 4090 | Gene type: protein coding

About 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.

Summary

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 Products(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

SMAD5 Protein Structure

MH1

MH2

0
100
200
300
400
464 a.a.

Protein Preferred Names

Protein Names

mothers against decapentaplegic homolog 5

MAD, mothers against decapentaplegic homolog 5

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13396	SMAD5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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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