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Khdc3 Gene Detail
Summary
  • Symbol
    Khdc3
  • Name
    KH domain containing 3, subcortical maternal complex member
  • Synonyms
    2410004A20Rik, ecat1, FILIA
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914241
    NCBI Gene: 66991
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:73101836-73104438 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 40.08 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    39 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914241
protein coding gene Chr9:73101383-73106631 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035026
protein coding gene Chr9:73319955-73322557 (+)
A/J MGP_AJ_G0035007
protein coding gene Chr9:70747683-70750285 (+)
AKR/J MGP_AKRJ_G0034936
protein coding gene Chr9:72446264-72448866 (+)
BALB/cJ MGP_BALBcJ_G0034999
protein coding gene Chr9:70454412-70457014 (+)
C3H/HeJ MGP_C3HHeJ_G0034708
protein coding gene Chr9:72941968-72944570 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035518
protein coding gene Chr9:75236201-75238803 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032429
protein coding gene Chr9:70215385-70218206 (+)
CAST/EiJ MGP_CASTEiJ_G0034030
protein coding gene Chr9:73280367-73283010 (+)
CBA/J MGP_CBAJ_G0034681
protein coding gene Chr9:77844610-77847212 (+)
DBA/2J MGP_DBA2J_G0034840
protein coding gene Chr9:70466441-70469043 (+)
FVB/NJ MGP_FVBNJ_G0034782
protein coding gene Chr9:69776715-69779317 (+)
LP/J MGP_LPJ_G0034921
protein coding gene Chr9:73535644-73538246 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034823
protein coding gene Chr9:78941037-78943639 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035540
protein coding gene Chr9:72606577-72609179 (+)
PWK/PhJ MGP_PWKPhJ_G0033734
protein coding gene Chr9:70744454-70747146 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033567
protein coding gene Chr9:72881917-72884624 (+)
WSB/EiJ MGP_WSBEiJ_G0034142
protein coding gene Chr9:72534957-72537559 (+)



Homology
more
  • Human Ortholog
    KHDC3L, KH domain containing 3 like, subcortical maternal complex member
  • Vertebrate Orthologs
    7
  • Human Ortholog
    KHDC3L, KH domain containing 3 like, subcortical maternal complex member
    Orthology source: HomoloGene
  • Synonyms
    C6orf221, ECAT1, HYDM2
  • Links
    NCBI Gene ID: 154288
    neXtProt AC: NX_Q587J8
    UniProt: Q587J8

  • Chr Location
    6q13; chr6:73362677-73364175 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human KHDC3L associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    4 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.
Homozygous null mice display a maternal effect defect in embryogenesis with delayed embryonic development and spindle abnormalities resulting in decreased litter sizes for homozygous females.
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 population 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 ENSMUSG00000092622 Ensembl Gene Model | MGI Sequence Detail 2603 C57BL/6J ±  kb
    transcript ENSMUST00000034737 Ensembl | MGI Sequence Detail 1681 Not Applicable  
    polypeptide ENSMUSP00000034737 Ensembl | MGI Sequence Detail 440 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 8
      Primer pair 4
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2143072
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 7
      Gene Ontology 6
      Phenotypes 4
    • 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:184300 Wang J, et al., The N-terminus of FILIA forms an atypical KH domain with a unique extension involved in interaction with RNA. PLoS One. 2012;7(1):e30209

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    03/19/2019
    MGI 6.13
    The Jackson Laboratory