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Gene: ITGB1BP2 (integrin subunit beta 1 binding protein 2) Homo sapiens
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Symbol: ITGB1BP2
Name: integrin subunit beta 1 binding protein 2
Description: This gene encodes a protein with two cysteine and histidine-rich (CHORD) domains, PXXP motifs, YXXI/P motifs, putative SH2 and SH3 domain binding motifs, and an acidic region at the C-terminus that can bind calcium. Two hybrid analysis showed that this protein interacts with the cytoplasmic domain of the beta 1 integrin subunit and is thought to act as a chaperone protein. Studies in the mouse ortholog of this gene indicate that absence of this gene in mouse results in failed cardiac hypertrophy in response to mechanical stress. Alternative splicing results in multiple transcript variants encoding different isoforms, including an isoform that lacks several domains, including one of the CHORD domains. [provided by RefSeq, May 2017]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHORDC3; integrin beta 1 binding protein (melusin) 2; integrin beta 1 binding protein 2; integrin beta-1-binding protein 2; ITGB1BP; MELUSIN; MGC119214; MSTP015
Orthologs:
Mus musculus (house mouse) : Itgb1bp2 (integrin beta 1 binding protein 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Itgb1bp2 (integrin subunit beta 1 binding protein 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Itgb1bp2 (integrin subunit beta 1 binding protein 2)
Pan paniscus (bonobo/pygmy chimpanzee) : ITGB1BP2 (integrin subunit beta 1 binding protein 2)
Canis lupus familiaris (dog) : ITGB1BP2 (integrin subunit beta 1 binding protein 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Itgb1bp2 (integrin subunit beta 1 binding protein 2)
Sus scrofa (pig) : ITGB1BP2 (integrin subunit beta 1 binding protein 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X71,301,734 - 71,305,371 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,521,581 - 70,525,221 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,438,353 - 70,441,929 (+)NCBINCBI36hg18NCBI36
Build 34X70,304,648 - 70,308,225NCBI
CeleraX70,875,506 - 70,879,082 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,337,919 - 64,341,495 (+)NCBIHuRef
CHM1_1X70,414,651 - 70,418,274 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ITGB1BP2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1350069
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.