ITGB1BP2 (integrin subunit beta 1 binding protein 2)

2014-11-01  

Identity

HGNC
ITGB1BP2
LOCATION
Xq13.1
LOCUSID
26548
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
231240432013Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy.4
231849432013Dynamic nucleotide-dependent interactions of cysteine- and histidine-rich domain (CHORD)-containing Hsp90 cochaperones Chp-1 and melusin with cochaperones PP5 and Sgt1.9
231240432013Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy.4
231849432013Dynamic nucleotide-dependent interactions of cysteine- and histidine-rich domain (CHORD)-containing Hsp90 cochaperones Chp-1 and melusin with cochaperones PP5 and Sgt1.9
215462742012Altered melusin pathways involved in cardiac remodeling following acute myocardial infarction.2
215462742012Altered melusin pathways involved in cardiac remodeling following acute myocardial infarction.2
200179032009Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.4
200179032009Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.4
200179032009Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.4
200179032009Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.4
124969582003Melusin, a muscle-specific integrin beta1-interacting protein, is required to prevent cardiac failure in response to chronic pressure overload.93
124969582003Melusin, a muscle-specific integrin beta1-interacting protein, is required to prevent cardiac failure in response to chronic pressure overload.93

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/css/gene-explorer/haematological-explorer/