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ITGB1BP2 integrin subunit beta 1 binding protein 2 [ Homo sapiens (human) ]

Gene ID: 26548, updated on 1-Jun-2020

Summary

Official Symbol
ITGB1BP2provided by HGNC
Official Full Name
integrin subunit beta 1 binding protein 2provided by HGNC
Primary source
HGNC:HGNC:6154
See related
Ensembl:ENSG00000147166 MIM:300332
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CHORDC3; ITGB1BP; MELUSIN; MSTP015
Summary
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]
Expression
Biased expression in heart (RPKM 22.0), prostate (RPKM 2.3) and 3 other tissues See more
Orthologs

Genomic context

See ITGB1BP2 in Genome Data Viewer
Location:
Xq13.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (71301750..71305371)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70521581..70525221)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger MYM-type containing 3 Neighboring gene uncharacterized LOC105373247 Neighboring gene non-POU domain containing octamer binding Neighboring gene ZCRB1 pseudogene 1 Neighboring gene RHOG family member 2, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119214

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
integrin beta-1-binding protein 2
Names
integrin beta 1 binding protein (melusin) 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054891.1 RefSeqGene

    Range
    5476..9097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303277.3NP_001290206.1  integrin beta-1-binding protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001290206.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three exons in the 5' end, compared to variant 1. This difference results in translation initiation at a downstream, in-frame start codon and an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF110225, BP372847
    Conserved Domains (2) summary
    cd06488
    Location:95181
    p23_melusin_like; p23_like domain similar to the C-terminal (tail) domain of vertebrate Melusin and related proteins. Melusin's tail domain interacts with the cytoplasmic domain of beta1-A and beta1-D isoforms of beta1 integrin, it does not bind other integrin beta ...
    pfam04968
    Location:2585
    CHORD; CHORD
  2. NM_012278.4NP_036410.1  integrin beta-1-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_036410.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF110225, DA895605
    Consensus CDS
    CCDS14411.1
    UniProtKB/Swiss-Prot
    Q9UKP3
    Related
    ENSP00000362935.3, ENST00000373829.8
    Conserved Domains (2) summary
    cd06488
    Location:218304
    p23_melusin_like; p23_like domain similar to the C-terminal (tail) domain of vertebrate Melusin and related proteins. Melusin's tail domain interacts with the cytoplasmic domain of beta1-A and beta1-D isoforms of beta1 integrin, it does not bind other integrin beta ...
    pfam04968
    Location:364
    CHORD; CHORD

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    71301750..71305371
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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