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Gab1 Gene Detail
Summary
  • Symbol
    Gab1
  • Name
    growth factor receptor bound protein 2-associated protein 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:108088
    NCBI Gene: 14388
  • Alliance
    gene page
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:81491067-81607148 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 38.47 cM, cytoband C3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2887 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108088
 protein coding gene Chr8:81491060-81607151 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033820
 protein coding gene Chr8:81490515-81610436 (-)
A/J MGP_AJ_G0033803
 protein coding gene Chr8:78262395-78379107 (-)
AKR/J MGP_AKRJ_G0033729
 protein coding gene Chr8:80600231-80721968 (-)
BALB/cJ MGP_BALBcJ_G0033796
 protein coding gene Chr8:78361176-78479126 (-)
C3H/HeJ MGP_C3HHeJ_G0033505
 protein coding gene Chr8:81232105-81353007 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034316
 protein coding gene Chr8:84639660-84762951 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031257
 protein coding gene Chr8:72257860-72373703 (-)
CAST/EiJ MGP_CASTEiJ_G0032836
 protein coding gene Chr8:80561988-80686528 (-)
CBA/J MGP_CBAJ_G0033484
 protein coding gene Chr8:87625652-87749974 (-)
DBA/2J MGP_DBA2J_G0033637
 protein coding gene Chr8:77936611-78054351 (-)
FVB/NJ MGP_FVBNJ_G0033582
 protein coding gene Chr8:76887586-77004534 (-)
LP/J MGP_LPJ_G0033727
 protein coding gene Chr8:81585050-81705906 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033625
 protein coding gene Chr8:90113778-90238446 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034333
 protein coding gene Chr8:80606673-80727258 (-)
PWK/PhJ MGP_PWKPhJ_G0032539
 protein coding gene Chr8:77195356-77313989 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032377
 protein coding gene Chr8:79416221-79545700 (-)
WSB/EiJ MGP_WSBEiJ_G0032949
 protein coding gene Chr8:80958981-81079507 (-)



Homology
more
  • Human Ortholog
    GAB1, GRB2 associated binding protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GAB1, GRB2 associated binding protein 1
  • Synonyms
    DFNB26
  • Links
    NCBI Gene ID: 2549
    neXtProt AC: NX_Q13480
    UniProt: Q13480

  • Chr Location
    4q31.21; chr4:143336876-143474565 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human GAB1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    52 phenotypes from 8 alleles in 7 genetic backgrounds
    19 phenotypes from multigenic genotypes
    4 images
    73 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 exhibit developmental defects in the placenta, heart, eye, muscle, and skin, and die between embryonic day 13.5 and 18.5.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    35
  • GO References
    15
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
    764
  • Tissues
    35
  • cDNA Data
    179
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031714 Ensembl Gene Model | MGI Sequence Detail 116082 C57BL/6J ±  kb
    transcript ENSMUST00000210676 Ensembl | MGI Sequence Detail 4985 Not Applicable  
    polypeptide ENSMUSP00000147784 Ensembl | MGI Sequence Detail 725 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 184
      cDNA 182
      Primer pair 1
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-37125, MGI:2142409, MGI:2142758
    References
    more
    • Summaries
      All 123
      Developmental Gene Expression 17
      Gene Ontology 15
      Phenotypes 73
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:353169 Xu J, et al., Epithelial Gab1 calibrates RIPK3-dependent necroptosis to prevent intestinal inflammation. JCI Insight. 2023 Mar 22;8(6)
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory