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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
    genome feature page
  • Transcription Start Sites
    11 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
    19
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 ENSMUSG00200042577
 protein coding gene Chr4:135005529-135022318 (-)
A/J ENSMUSG00195029885
 protein coding gene Chr4:136355408-136372190 (-)
AKR/J ENSMUSG00220041517
 protein coding gene Chr4:135351752-135368503 (-)
BALB/cJ ENSMUSG00180040616
 protein coding gene Chr4:133991913-134008652 (-)
C3H/HeJ ENSMUSG00175034740
 protein coding gene Chr4:135018490-135035228 (-)
C57BL/6NJ ENSMUSG00215048527
 protein coding gene Chr4:136537999-136554779 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026756
 protein coding gene Chr4:131545148-131562571 (-)
CAST/EiJ ENSTCUG00005012582
 protein coding gene Chr4:135980351-135997137 (-)
CBA/J ENSMUSG00210028242
 protein coding gene Chr4:134642404-134659146 (-)
DBA/2J ENSMUSG00185050212
 protein coding gene Chr4:136146459-136163236 (-)
FVB/NJ ENSMUSG00205032334
 protein coding gene Chr4:134405167-134421964 (-)
JF1/MsJ ENSUMUG00000033616
 protein coding gene Chr4:136840445-136857205 (-)
LP/J ENSMUSG00230039150
 protein coding gene Chr4:139943966-139960751 (-)
NOD/ShiLtJ ENSMUSG00190022401
 protein coding gene Chr4:134397826-134414600 (-)
NZO/HlLtJ ENSMUSG00225009661
 protein coding gene Chr4:145893812-145910609 (-)
PWK/PhJ ENSLUMG00010037136
 protein coding gene Chr4:133831899-133848668 (-)
SPRET/EiJ ENSMSPG00010031256
 protein coding gene Chr4:135883709-135900413 (-)
WSB/EiJ ENSIUOG00005046013
 protein coding gene Chr4:134288864-134305649 (-)



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
    UniProt: Q96C19

  • Chr Location
    1p36.21; chr1:15409849-15430339 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    22 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
    11
  • GO References
    6
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
    715
  • 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
      3 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
      Antibodies 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-34198, MGI:1914390, MGI:2140132
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 5
      Gene Ontology 6
      Phenotypes 22
    • 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:389864 Murata K, et al., A novel miniTurbo knock-in mouse reveals a protein interaction network of USP46 in the brain. Exp Anim. 2026 Jan 1;75(1):63-72
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory