SMAD5 (SMAD family member 5)

2003-02-01  

Identity

HGNC
LOCATION
5q31.1
LOCUSID
ALIAS
DWFC,JV5-1,MADH5
FUSION GENES

Other Information

Locus ID:

NCBI: 4090
MIM: 603110
HGNC: 6771
Ensembl: ENSG00000113658

Variants:

dbSNP: 4090
ClinVar: 4090
TCGA: ENSG00000113658
COSMIC: SMAD5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113658ENST00000506223D6R9D4
ENSG00000113658ENST00000507118D6RIZ9
ENSG00000113658ENST00000507637H0YAK7
ENSG00000113658ENST00000509297Q99717
ENSG00000113658ENST00000509297Q68DB7
ENSG00000113658ENST00000511116D6RBB4
ENSG00000113658ENST00000513418H0YAM3
ENSG00000113658ENST00000545279Q99717
ENSG00000113658ENST00000545279Q68DB7
ENSG00000113658ENST00000545620Q99717
ENSG00000113658ENST00000545620Q68DB7

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
TGF-beta signaling pathwayKEGGko04350
TGF-beta signaling pathwayKEGGhsa04350
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
BMP signalingKEGGhsa_M00679
BMP signalingKEGGM00679
Signal TransductionREACTOMER-HSA-162582
Signaling by BMPREACTOMER-HSA-201451

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
186847122009Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva.77
192116122009A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension.62
183103192008Tumor cell cycle arrest induced by shear stress: Roles of integrins and Smad.60
162474762006Bone morphogenetic protein 2 stimulation of tumor growth involves the activation of Smad-1/5.50
120607512002Integration of Runx and Smad regulatory signals at transcriptionally active subnuclear sites.49
220130492012Kaposi's sarcoma-associated herpesvirus-encoded microRNA miR-K12-11 attenuates transforming growth factor beta signaling through suppression of SMAD5.48
187759912008Endoglin promotes transforming growth factor beta-mediated Smad 1/5/8 signaling and inhibits endothelial cell migration through its association with GIPC.43
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
198199412009Smad1-Smad5 ovarian conditional knockout mice develop a disease profile similar to the juvenile form of human granulosa cell tumors.34
183936322008Control of early fate decisions in human ES cells by distinct states of TGFbeta pathway activity.33

Citation

Dessen P

SMAD5 (SMAD family member 5)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41230/smad5