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

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; AllianceGenome:HGNC:6154
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: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (71301750..71305371)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (69735860..69739481)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (70521600..70525221)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Studies in mouse show that melusin prevents cardiac dilation during chronic pressure overload by specifically sensing mechanical stress.
Title: Melusin, a muscle-specific integrin beta1-interacting protein, is required to prevent cardiac failure in response to chronic pressure overload.
Chp-1 and melusin can interact with cochaperones PP5 and Sgt1 and with each other in an ATP-dependent manner
Title: Dynamic nucleotide-dependent interactions of cysteine- and histidine-rich domain (CHORD)-containing Hsp90 cochaperones Chp-1 and melusin with cochaperones PP5 and Sgt1.
Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy
Title: Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy.
The altered melusin pathways and CDC42 parallel the cardiac function progression during cardiac remodeling post-MI.
Title: Altered melusin pathways involved in cardiac remodeling following acute myocardial infarction.
Our analysis revealed an extremely low number of variations in the ITGB1BP2 gene in nearly 1000 hypertensive/cardiopathic and healthy individuals, thus suggesting a high degree of conservation of the melusin gene within the populations analyzed
Title: Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.
Observational study of gene-disease association. (HuGE Navigator)
Title: Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS1500 (e-PCR)
- UniSTS:99633

DXS9791 (e-PCR)
- UniSTS:9273

NoName (e-PCR)
- UniSTS:483953

DXS7556 (e-PCR)
- UniSTS:26513

RH77996 (e-PCR)
- UniSTS:72881

RH18146 (e-PCR)
- UniSTS:209598

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in centrosome duplication	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: integrin beta-1-binding protein 2

Names: integrin beta 1 binding protein (melusin) 2

NCBI Reference Sequences (RefSeq)

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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

NG_054891.1 RefSeqGene

Range

5476..9097

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001303277.3 → NP_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:95 → 181

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:25 → 85

CHORD; CHORD
NM_012278.4 → NP_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

Q32N04, Q549J7, Q9UKP3

Related

ENSP00000362935.3, ENST00000373829.8

Conserved Domains (2) summary

cd06488
Location:218 → 304

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:3 → 64

CHORD