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Itgb1bp2 Gene Detail
Summary
  • Symbol
    Itgb1bp2
  • Name
    integrin beta 1 binding protein 2
  • Synonyms
    Chordc3, melusin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353420
    NCBI Gene: 26549
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:100492694-100497147 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 44.17 cM, cytoband D
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    151 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1353420
 protein coding gene ChrX:100492694-100520391 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035962
 protein coding gene ChrX:97962056-97966509 (+)
A/J MGP_AJ_G0035947
 protein coding gene ChrX:97960215-97964668 (+)
AKR/J MGP_AKRJ_G0035863
 protein coding gene ChrX:100778548-100783001 (+)
BALB/cJ MGP_BALBcJ_G0035930
 protein coding gene ChrX:96710448-96714901 (+)
C3H/HeJ MGP_C3HHeJ_G0035639
 protein coding gene ChrX:98368696-98373149 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036459
 protein coding gene ChrX:100865736-100870189 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033289
 protein coding gene ChrX:95709310-95713712 (+)
CAST/EiJ MGP_CASTEiJ_G0034926
 protein coding gene ChrX:82673087-82677540 (+)
CBA/J MGP_CBAJ_G0035614
 protein coding gene ChrX:103995059-103999512 (+)
DBA/2J MGP_DBA2J_G0035768
 protein coding gene ChrX:97170442-97174895 (+)
FVB/NJ MGP_FVBNJ_G0035706
 protein coding gene ChrX:96553828-96558281 (+)
LP/J MGP_LPJ_G0035858
 protein coding gene ChrX:98918412-98922865 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035741
 protein coding gene ChrX:108539638-108544091 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036486
 protein coding gene ChrX:97659143-97663825 (+)
PWK/PhJ MGP_PWKPhJ_G0034625
 protein coding gene ChrX:80274637-80279099 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034453
 protein coding gene ChrX:83578392-83582849 (+)
WSB/EiJ MGP_WSBEiJ_G0035065
 protein coding gene ChrX:96362833-96367515 (+)



Homology
more
  • Human Ortholog
    ITGB1BP2, integrin subunit beta 1 binding protein 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ITGB1BP2, integrin subunit beta 1 binding protein 2
  • Synonyms
    CHORDC3, ITGB1BP, MELUSIN, MSTP015
  • Links
    NCBI Gene ID: 26548
    neXtProt AC: NX_Q9UKP3
    UniProt: Q9UKP3

  • Chr Location
    Xq13.1; chrX:71301750-71305371 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    4 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutant animals show normal cardiac structure and function under physiological conditions. When subjected to pressure overload, mutant hearts display contractile dysfunction and dilated cardiomyopathy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    840
  • Tissues
    16
  • cDNA Data
    24
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031312 Ensembl Gene Model | MGI Sequence Detail 4454 C57BL/6J ±  kb
    transcript ENSMUST00000033674 Ensembl | MGI Sequence Detail 1314 Not Applicable  
    polypeptide ENSMUSP00000033674 Ensembl | MGI Sequence Detail 350 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 26
      Genomic 1
      cDNA 24
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 4
      Gene Ontology 8
      Phenotypes 4
    • 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:307814 Tannous C, et al., NMRK2 Gene Is Upregulated in Dilated Cardiomyopathy and Required for Cardiac Function and NAD Levels during Aging. Int J Mol Sci. 2021 Mar 29;22(7)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory