Aliases for ITGB1BP2 Gene
External Ids for ITGB1BP2 Gene
Previous GeneCards Identifiers for ITGB1BP2 Gene
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]
GeneCards Summary for ITGB1BP2 Gene
ITGB1BP2 (Integrin Subunit Beta 1 Binding Protein 2) is a Protein Coding gene. Diseases associated with ITGB1BP2 include Dilated Cardiomyopathy. Gene Ontology (GO) annotations related to this gene include calcium ion binding and integrin binding. An important paralog of this gene is CHORDC1.
UniProtKB/Swiss-Prot for ITGB1BP2 Gene
May play a role during maturation and/or organization of muscles cells.