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Itgb4 Gene Detail
Summary
  • Symbol
    Itgb4
  • Name
    integrin beta 4
  • Synonyms
    CD104
  • Feature Type
    protein coding gene
  • IDs
    MGI:96613
    NCBI Gene: 192897
  • Alliance
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:115865556-115899238 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 11, 80.91 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    126 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96613
protein coding gene Chr11:115865535-115899238 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019408
protein coding gene Chr11:120054928-120089500 (+)
A/J MGP_AJ_G0019377
protein coding gene Chr11:114804368-114837541 (+)
AKR/J MGP_AKRJ_G0019347
protein coding gene Chr11:118235727-118268471 (+)
BALB/cJ MGP_BALBcJ_G0019351
protein coding gene Chr11:115220533-115252988 (+)
C3H/HeJ MGP_C3HHeJ_G0019157
protein coding gene Chr11:118581512-118618070 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019801
protein coding gene Chr11:123711980-123749987 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017424
protein coding gene Chr11:111828187-111861399 (+)
CAST/EiJ MGP_CASTEiJ_G0018712
protein coding gene Chr11:119927862-119963839 (+)
CBA/J MGP_CBAJ_G0019129
protein coding gene Chr11:128611280-128649187 (+)
DBA/2J MGP_DBA2J_G0019240
protein coding gene Chr11:114226369-114258929 (+)
FVB/NJ MGP_FVBNJ_G0019232
protein coding gene Chr11:113736167-113771045 (+)
LP/J MGP_LPJ_G0019310
protein coding gene Chr11:120434596-120467927 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019265
protein coding gene Chr11:127717431-127753732 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019839
protein coding gene Chr11:118888585-118923448 (+)
PWK/PhJ MGP_PWKPhJ_G0018476
protein coding gene Chr11:115547208-115590052 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018269
protein coding gene Chr11:118638658-118677153 (+)
WSB/EiJ MGP_WSBEiJ_G0018764
protein coding gene Chr11:118849050-118883903 (+)



Homology
more
  • Human Ortholog
    ITGB4, integrin subunit beta 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ITGB4, integrin subunit beta 4
  • Synonyms
    CD104, GP150, JEB5A, JEB5B
  • Links
    NCBI Gene ID: 3691
    neXtProt AC: NX_P16144
    UniProt: P16144

  • Chr Location
    17q25.1; chr17:75721328-75757818 (+)  GRCh38

Human Diseases
more
  • Diseases
    2 with Itgb4 mouse models; 2 with human ITGB4 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 7 alleles in 8 genetic backgrounds
    6 phenotypes from multigenic genotypes
    3 images
    37 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.
Homozygotes for targeted null mutations die shortly after birth with extensive detachment of the epidermis and other squamus epithelia. Stratified tissues lack hemidesmosomes and simple epithelia are also defective in adherence.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 192897 NCBI Gene Model | MGI Sequence Detail 33683 C57BL/6J ±  kb
    transcript NM_001405127 RefSeq | MGI Sequence Detail 5821 ZRU/MplStud  
    polypeptide A2A863 UniProt | EBI | MGI Sequence Detail 1818 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 102
      cDNA 95
      Primer pair 4
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11492, MGI:2143962
    References
    more
    • Summaries
      All 212
      Developmental Gene Expression 124
      Diseases 2
      Gene Ontology 15
      Phenotypes 37
    • Earliest
      J:35643 Kennel SJ, et al., Analysis of the tumor-associated antigen TSP-180. Identity with alpha 6-beta 4 in the integrin superfamily. J Biol Chem. 1989 Sep 15;264(26):15515-21
    • Latest
      J:341642 Schwartz B, et al., ZNF750 Regulates Skin Barrier Function by Driving Cornified Envelope and Lipid Processing Pathways. J Invest Dermatol. 2023 Sep 3;

    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)
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory