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Gene : ITGB1BP2 Homo sapiens

Name  ? integrin subunit beta 1 binding protein 2 Cytological Location  Xq13.1
Brief Description  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]
  • synonyms:
  • MSTP015,
  • ITGB1BP2,
  • MELUSIN,
  • AF140690,
  • ITGB1BP,
  • CHORDC3,
  • uc004dzr.2,
  • OTTHUMG00000021793,
  • CHORDC3,
  • NM_012278,
  • integrin beta 1 binding protein 2,
  • melusin,
  • HGNC:6154
  • identifiers:
  • 26548,
  • ENSG00000147166,
  • ITGB1BP2

Genome feature

Region: gene ? Length: 3638  
Location: X:71301734-71305371 Cyto location: Xq13.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

10 SN Ps

5 Cross References

15 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results