About   Help   FAQ
Efhc1 Gene Detail
Summary
  • Symbol
    Efhc1
  • Name
    EF-hand domain (C-terminal) containing 1
  • Synonyms
    1700029F22Rik, mRib72-1, myoclonin1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919127
    NCBI Gene: 71877
  • Gene Overview
    MyGene.info: EFHC1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:20951626-20990841 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39216 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 6.50 cM, cytoband A5
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EFHC1, EF-hand domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EFHC1, EF-hand domain containing 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    dJ304B14.2, EJM1
  • Links
    NCBI Gene ID: 114327
    neXtProt AC: NX_Q5JVL4
    UniProt: Q5JVL4

  • Chr Location
    6p12.2; chr6:52420196-52495785 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 10003
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EFHC1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Efhc1 mouse models; 2 with human EFHC1 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
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
    5 phenotypes from 1 allele in 1 genetic background
    5 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous or heterozygous for a null mutation display myoclonus and increased susceptibility to pharmacologically induced seizures. Homozygous mice also display enlarged brain ventricles and reduced hippocampal size.
Gene Ontology
(GO)
Classifications
less
  • 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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000029838 VEGA Gene Model | MGI Sequence Detail 39216 C57BL/6J ±  kb
    transcript OTTMUST00000074047 VEGA | MGI Sequence Detail 2146 Not Applicable  
    polypeptide OTTMUSP00000038413 VEGA | MGI Sequence Detail 648 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      306 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 20

      Microarray probesets 3
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 5
      Phenotypes 5
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:188921 de Nijs L, et al., Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. Hum Mol Genet. 2012 Dec 1;21(23):5106-17

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory