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Efhd2 Gene Detail
Summary
  • Symbol
    Efhd2
  • Name
    EF hand domain containing 2
  • Synonyms
    2600015J22Rik, D4Wsu27e, swiprosin 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:106504
    NCBI Gene: 27984
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:141585453-141602231 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 74.75 cM, cytoband E1
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    538 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106504
 protein coding gene Chr4:141585453-141602231 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029061
 protein coding gene Chr4:144960607-144977391 (-)
A/J MGP_AJ_G0029021
 protein coding gene Chr4:138641129-138657877 (-)
AKR/J MGP_AKRJ_G0028973
 protein coding gene Chr4:142670142-142686872 (-)
BALB/cJ MGP_BALBcJ_G0029045
 protein coding gene Chr4:139327943-139344554 (-)
C3H/HeJ MGP_C3HHeJ_G0028759
 protein coding gene Chr4:143028010-143044732 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029486
 protein coding gene Chr4:150000425-150017147 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026756
 protein coding gene Chr4:131545148-131562571 (-)
CAST/EiJ MGP_CASTEiJ_G0028191
 protein coding gene Chr4:141294014-141310989 (-)
CBA/J MGP_CBAJ_G0028723
 protein coding gene Chr4:154425726-154442454 (-)
DBA/2J MGP_DBA2J_G0028873
 protein coding gene Chr4:139027348-139044134 (-)
FVB/NJ MGP_FVBNJ_G0028840
 protein coding gene Chr4:138152863-138169598 (-)
LP/J MGP_LPJ_G0028972
 protein coding gene Chr4:144965513-144982275 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028866
 protein coding gene Chr4:158150842-158167613 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029524
 protein coding gene Chr4:143192133-143208916 (-)
PWK/PhJ MGP_PWKPhJ_G0027912
 protein coding gene Chr4:135925538-135942456 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027736
 protein coding gene Chr4:138995175-139013783 (-)
WSB/EiJ MGP_WSBEiJ_G0028269
 protein coding gene Chr4:143451691-143468426 (-)



Homology
more
  • Human Ortholog
    EFHD2, EF-hand domain family member D2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EFHD2, EF-hand domain family member D2
  • Synonyms
    SWS1
  • Links
    NCBI Gene ID: 79180
    neXtProt AC: NX_Q96C19
    UniProt: Q96C19

  • Chr Location
    1p36.21; chr1:15409888-15430339 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    20 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 knock-out allele exhibit enhanced germinal center responses and humoral type 2 immunity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    6
  • GO References
    4
Molecular Function

Biological Process

Cellular Component

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
    824
  • Tissues
    36
  • cDNA Data
    15
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 27984 NCBI Gene Model | MGI Sequence Detail 16779 C57BL/6J ±  kb
    transcript NM_025994 RefSeq | MGI Sequence Detail 2381 ZRU/MplStud  
    polypeptide Q9D8Y0 UniProt | EBI | MGI Sequence Detail 240 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000029441 EF-hand domain-containing protein D2
      (term hierarchy)
    • InterPro Domains
      IPR049025 Allograft inflammatory factor 1-like, EF-hand domain pair
      IPR002048 EF-hand domain
      IPR040365 EF-hand domain-containing protein D1/2
      IPR011992 EF-hand domain pair
    • GlyGen
      Q9D8Y0 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 15
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-34198, MGI:1914390, MGI:2140132
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 5
      Gene Ontology 4
      Phenotypes 20
    • Earliest
      J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
    • Latest
      J:350101 Wu J, et al., EFHD2 suppresses intestinal inflammation by blocking intestinal epithelial cell TNFR1 internalization and cell death. Nat Commun. 2024 Feb 12;15(1):1282
    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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    11/12/2024
    MGI 6.24     		The Jackson Laboratory