ITGB1BP2 (integrin subunit beta 1 binding protein 2)

2014-11-01  

Identity

HGNC
LOCATION
Xq13.1
LOCUSID
ALIAS
CHORDC3,ITGB1BP,MELUSIN,MSTP015

Other Information

Locus ID:

NCBI: 26548
MIM: 300332
HGNC: 6154
Ensembl: ENSG00000147166

Variants:

dbSNP: 26548
ClinVar: 26548
TCGA: ENSG00000147166
COSMIC: ITGB1BP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147166ENST00000373829Q9UKP3
ENSG00000147166ENST00000538820Q9UKP3

Expression (GTEx)

0
10
20
30
40
50
60

References

Pubmed IDYearTitleCitations
124969582003Melusin, a muscle-specific integrin beta1-interacting protein, is required to prevent cardiac failure in response to chronic pressure overload.79
231849432013Dynamic nucleotide-dependent interactions of cysteine- and histidine-rich domain (CHORD)-containing Hsp90 cochaperones Chp-1 and melusin with cochaperones PP5 and Sgt1.6
200179032009Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.2
200179032009Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.2
231240432013Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy.2
215462742012Altered melusin pathways involved in cardiac remodeling following acute myocardial infarction.1

Citation

Dessen P

ITGB1BP2 (integrin subunit beta 1 binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64686/itgb1bp2