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4930447C04Rik Gene Detail
Summary
  • Symbol
    4930447C04Rik
  • Name
    RIKEN cDNA 4930447C04 gene
  • Synonyms
    4921504I02Rik, A930035O15Rik, Six6as, Six6os1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923051
    NCBI Gene: 75801
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:72926967-72964742 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 30.30 cM, cytoband C3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    194 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923051
 protein coding gene Chr12:72926967-72987548 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019830
 protein coding gene Chr12:72741585-72808053 (-)
A/J MGP_AJ_G0019788
 protein coding gene Chr12:70036049-70098798 (-)
AKR/J MGP_AKRJ_G0019763
 protein coding gene Chr12:72156176-72218659 (-)
BALB/cJ MGP_BALBcJ_G0019768
 protein coding gene Chr12:70511532-70574056 (-)
C3H/HeJ MGP_C3HHeJ_G0019573
 protein coding gene Chr12:72583403-72646848 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020220
 protein coding gene Chr12:75013809-75078980 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017838
 protein coding gene Chr12:67492230-67553108 (-)
CAST/EiJ MGP_CASTEiJ_G0019125
 protein coding gene Chr12:67367421-67435835 (-)
CBA/J MGP_CBAJ_G0019543
 protein coding gene Chr12:77844058-77919032 (-)
DBA/2J MGP_DBA2J_G0019659
 protein coding gene Chr12:69921333-69983739 (-)
FVB/NJ MGP_FVBNJ_G0019646
 protein coding gene Chr12:68784555-68844240 (-)
LP/J MGP_LPJ_G0019731
 protein coding gene Chr12:72778371-72837306 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019685
 protein coding gene Chr12:81020538-81093255 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020255
 protein coding gene Chr12:71630156-71694743 (-)
PWK/PhJ MGP_PWKPhJ_G0018890
 protein coding gene Chr12:64230134-64295181 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018685
 protein coding gene Chr12:66039087-66108940 (-)
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    C14orf39, chromosome 14 open reading frame 39
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C14orf39, chromosome 14 open reading frame 39
  • Synonyms
    POF18, Six6os1, SPGF52
  • Links
    NCBI Gene ID: 317761
    neXtProt AC: NX_Q8N1H7
    UniProt: Q8N1H7

  • Chr Location
    14q23.1; chr14:60396469-60515544 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human C14orf39 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 2 alleles in 2 genetic backgrounds
    11 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 null mutation display male and female infertility with meiotic arrest and defective synaptic formation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    7
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
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
    721
  • Tissues
    14
  • cDNA Data
    16
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 75801 NCBI Gene Model | MGI Sequence Detail 37776 C57BL/6J ±  kb
    transcript NM_029444 RefSeq | MGI Sequence Detail 1910 C57BL/6  
    polypeptide Q9CTN5 UniProt | EBI | MGI Sequence Detail 574 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 16
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1921603, MGI:1925081
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 11
    • 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:313843 Fan S, et al., Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Am J Hum Genet. 2021 Feb 4;108(2):324-336
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory