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Itgb1bp2
Gene Detail
 Symbol
Name
ID
Itgb1bp2
integrin beta 1 binding protein 2
MGI:1353420
Synonyms Chordc3, melusin
Feature Type protein coding gene
Genetic Map
Chromosome X
44.17 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
ChrX:101449088-101453541 bp, + strand
From VEGA annotation of GRCm38

  4454 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:22708  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Itgb1bp2

Human
homologs
Human Homolog ITGB1BP2, integrin beta 1 binding protein (melusin) 2
NCBI Gene ID 26548
neXtProt AC  NX_Q9UKP3
Human Synonyms  CHORDC3, ITGB1BP, MELUSIN
Human Chr (Location)  Xq12-q13.1; chrX:71301732-71305371 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Gene trapped(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mutant animals show normal cardiac structure and function under physiological conditions. When subjected to pressure overload, mutant hearts display contractile dysfunction and dilated cardiomyopathy.
 
Interactions
Itgb1bp2 interacts with 38 markers (Mir10b, Mir18, Mir29b-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Component Z disc
Function calcium ion binding, integrin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (134)    Tissues (16)    Images (25)
Theiler Stages: 23
Assay TypeResults
RNA in situ 132
RT-PCR 2
cDNA source data(23)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(25) Genomic(1) cDNA(23) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000018208 (Evidence)
Ensembl Gene ModelENSMUSG00000031312 (Evidence)
Entrez Gene26549 (Evidence)
UniGene46232
DFCITC1588339, TC1631304
DoTSDT.40176660
NIA Mouse Gene IndexU020069
Consensus CDS ProjectCCDS41079.1
International Mouse Knockout Project StatusItgb1bp2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018208 VEGA Gene Model | MGI Sequence Detail 4454 C57BL/6J ±  kb
transcript OTTMUST00000043972 VEGA | MGI Sequence Detail 1314 Not Applicable 
polypeptide OTTMUSP00000019743 VEGA | MGI Sequence Detail 350 Not Applicable 

For the selected sequences
All sequences(20) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(27 from dbSNP Build 137)    SNPs within 2kb including multiple locations(31)
Protein-related
information
ResourceIDDescription
InterPro IPR007052 CS-like domain
InterPro IPR007051 Cysteine/histidine-rich domain
InterPro IPR008978 HSP20-like chaperone
Protein Ontology PR:000009137 integrin beta-1-binding protein 2
References (Earliest) J:57924 Brancaccio M, et al., Melusin is a new muscle-specific interactor for beta(1) integrin cytoplasmic domain. J Biol Chem. 1999 Oct 8;274(41):29282-8
(Latest) J:197112 Hong TJ, et al., Dynamic nucleotide-dependent interactions of cysteine- and histidine-rich domain (CHORD)-containing Hsp90 cochaperones Chp-1 and melusin with cochaperones PP5 and Sgt1. J Biol Chem. 2013 Jan 4;288(1):215-22
All references(31)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory