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Efs Gene Detail
Summary
  • Symbol
    Efs
  • Name
    embryonal Fyn-associated substrate
  • Feature Type
    protein coding gene
  • IDs
    MGI:105311
    NCBI Gene: 13644
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:55153992-55163583 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 27.99 cM, cytoband C1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    248 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105311
 protein coding gene Chr14:55153992-55164222 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021331
 protein coding gene Chr14:48898276-48909666 (-)
A/J MGP_AJ_G0021290
 protein coding gene Chr14:47934493-47944450 (-)
AKR/J MGP_AKRJ_G0021266
 protein coding gene Chr14:49679556-49689513 (-)
BALB/cJ MGP_BALBcJ_G0021294
 protein coding gene Chr14:47911935-47921888 (-)
C3H/HeJ MGP_C3HHeJ_G0021074
 protein coding gene Chr14:49371857-49383169 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021732
 protein coding gene Chr14:51370254-51380479 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019279
 protein coding gene Chr14:46346809-46357539 (-)
CAST/EiJ MGP_CASTEiJ_G0020593
 protein coding gene Chr14:45610607-45622294 (-)
CBA/J MGP_CBAJ_G0021041
 protein coding gene Chr14:52928515-52939426 (-)
DBA/2J MGP_DBA2J_G0021162
 protein coding gene Chr14:47675257-47686210 (-)
FVB/NJ MGP_FVBNJ_G0021144
 protein coding gene Chr14:47132819-47143187 (-)
LP/J MGP_LPJ_G0021236
 protein coding gene Chr14:49918661-49929080 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021168
 protein coding gene Chr14:52312438-52323174 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021759
 protein coding gene Chr14:48856979-48866971 (-)
PWK/PhJ MGP_PWKPhJ_G0020340
 protein coding gene Chr14:44210746-44221213 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020168
 protein coding gene Chr14:44841016-44851499 (-)
WSB/EiJ MGP_WSBEiJ_G0020646
 protein coding gene Chr14:49149007-49160069 (-)



Homology
more
  • Human Ortholog
    EFS, embryonal Fyn-associated substrate
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EFS, embryonal Fyn-associated substrate
  • Synonyms
    CAS3, CASS3, EFS1, EFS2, HEFS, SIN
  • Links
    NCBI Gene ID: 10278
    neXtProt AC: NX_O43281
    UniProt: O43281

  • Chr Location
    14q11.2; chr14:23356403-23365752 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Efs mouse models

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    10 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.
Mice homozygous for a disruption in this gene display an increased inflammatory response characterized by excessive T cell responses, enhanced cytokine secretion and antibody production, and intestinal, kidney, liver, and lung inflammation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    8
  • GO References
    4
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
    819
  • Tissues
    49
  • cDNA Data
    75
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022203 Ensembl Gene Model | MGI Sequence Detail 9592 C57BL/6J ±  kb
    transcript ENSMUST00000022813 Ensembl | MGI Sequence Detail 2705 Not Applicable  
    polypeptide ENSMUSP00000022813 Ensembl | MGI Sequence Detail 560 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 76
      cDNA 75
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-32352
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 4
      Phenotypes 10
    • Earliest
      J:30264 Ishino M, et al., Molecular cloning of a cDNA encoding a phosphoprotein, Efs, which contains a Src homology 3 domain and associates with Fyn. Oncogene. 1995 Dec 7;11(11):2331-8
    • Latest
      J:339438 Wong W, et al., An adhesion signaling axis involving Dystroglycan, beta1-Integrin, and Cas adaptor proteins regulates the establishment of the cortical glial scaffold. PLoS Biol. 2023 Aug;21(8):e3002212
    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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    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