About   Help   FAQ
Efcab6 Gene Detail
Summary
  • Symbol
    Efcab6
  • Name
    EF-hand calcium binding domain 6
  • Synonyms
    4931407K02Rik, 4932408N08Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924877
    NCBI Gene: 77627
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:83750913-83949580 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 39.48 cM, cytoband E3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    993 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924877
 protein coding gene Chr15:83750913-83959226 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022171
 protein coding gene Chr15:84606467-84813175 (-)
A/J MGP_AJ_G0022130
 protein coding gene Chr15:81497276-81697254 (-)
AKR/J MGP_AKRJ_G0022105
 protein coding gene Chr15:83871713-84075474 (-)
BALB/cJ MGP_BALBcJ_G0022136
 protein coding gene Chr15:81640164-81839152 (-)
C3H/HeJ MGP_C3HHeJ_G0021906
 protein coding gene Chr15:83825549-84029538 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022581
 protein coding gene Chr15:87849205-88062489 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020106
 protein coding gene Chr15:77867425-78065409 (-)
CAST/EiJ MGP_CASTEiJ_G0021428
 protein coding gene Chr15:84606332-84818648 (-)
CBA/J MGP_CBAJ_G0021873
 protein coding gene Chr15:90656733-90878581 (-)
DBA/2J MGP_DBA2J_G0022000
 protein coding gene Chr15:80981825-81181628 (-)
FVB/NJ MGP_FVBNJ_G0021979
 protein coding gene Chr15:80033398-80235178 (-)
LP/J MGP_LPJ_G0022071
 protein coding gene Chr15:84767964-84979985 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021999
 protein coding gene Chr15:95518249-95726004 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022596
 protein coding gene Chr15:83873446-84081680 (-)
PWK/PhJ MGP_PWKPhJ_G0021169
 protein coding gene Chr15:80975399-81173789 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021003
 protein coding gene Chr15:83603743-83792912 (-)
WSB/EiJ MGP_WSBEiJ_G0021477
 protein coding gene Chr15:84378325-84584510 (-)



Homology
more
  • Human Ortholog
    EFCAB6, EF-hand calcium binding domain 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EFCAB6, EF-hand calcium binding domain 6
  • Synonyms
    dJ185D5.1, DJBP, HSCBCIP1
  • Links
    NCBI Gene ID: 64800
    neXtProt AC: NX_Q5THR3
    UniProt: Q5THR3

  • Chr Location
    22q13.2-q13.31; chr22:43528744-43812337 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    24 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    4
  • 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

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.
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
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
    728
  • Tissues
    15
  • cDNA Data
    24
  • Literature Summary
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000022441 Ensembl Gene Model | MGI Sequence Detail 198668 C57BL/6J ±  kb
transcript ENSMUST00000156187 Ensembl | MGI Sequence Detail 5012 Not Applicable  
polypeptide ENSMUSP00000114909 Ensembl | MGI Sequence Detail 1516 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 24
    cDNA 24

    Microarray probesets 5
Other
Accession IDs
less
MGI:1921618
References
more
  • Summaries
    All 49
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 4
    Phenotypes 24
  • Earliest
    J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
  • Latest
    J:338030 Zhou L, et al., Structures of sperm flagellar doublet microtubules expand the genetic spectrum of male infertility. Cell. 2023 Jun 22;186(13):2897-2910.e19
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
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory