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Cfap418 Gene Detail
Summary
  • Symbol
    Cfap418
  • Name
    cilia and flagella associated protein 418
  • Synonyms
    2610301B20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914407
    NCBI Gene: 67157
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:10874498-10899425 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 4.85 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    740 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914407
 protein coding gene Chr4:10874249-10899425 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028045
 protein coding gene Chr4:7501736-7529447 (+)
A/J MGP_AJ_G0028002
 protein coding gene Chr4:7385505-7410417 (+)
AKR/J MGP_AKRJ_G0027968
 protein coding gene Chr4:7460942-7492870 (+)
BALB/cJ MGP_BALBcJ_G0028014
 protein coding gene Chr4:7306066-7334337 (+)
C3H/HeJ MGP_C3HHeJ_G0027744
 protein coding gene Chr4:7613049-7638174 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028457
 protein coding gene Chr4:7918517-7942443 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025801
 protein coding gene Chr4:6917230-6937610 (+)
CAST/EiJ MGP_CASTEiJ_G0027198
 protein coding gene Chr4:7442087-7471078 (+)
CBA/J MGP_CBAJ_G0027719
 protein coding gene Chr4:8071242-8103595 (+)
DBA/2J MGP_DBA2J_G0027860
 protein coding gene Chr4:7268554-7293419 (+)
FVB/NJ MGP_FVBNJ_G0027826
 protein coding gene Chr4:7106266-7131801 (+)
LP/J MGP_LPJ_G0027970
 protein coding gene Chr4:7582524-7611235 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027859
 protein coding gene Chr4:8275362-8303484 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028516
 protein coding gene Chr4:7462980-7497156 (+)
PWK/PhJ MGP_PWKPhJ_G0026919
 protein coding gene Chr4:7260112-7286913 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026749
 protein coding gene Chr4:7390731-7416767 (+)
WSB/EiJ MGP_WSBEiJ_G0027277
 protein coding gene Chr4:7519509-7545919 (+)



Homology
more
  • Human Ortholog
    CFAP418, cilia and flagella associated protein 418
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFAP418, cilia and flagella associated protein 418
  • Synonyms
    BBS21, C8orf37, CORD16, FAP418, MOT25, RP64, smalltalk
  • Links
    NCBI Gene ID: 157657
    neXtProt AC: NX_Q96NL8
    UniProt: Q96NL8

  • Chr Location
    8q22.1; chr8:95244913-95269201 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cfap418 mouse models; 2 with human CFAP418 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
      
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
    18 phenotypes from 4 alleles in 2 genetic backgrounds
    6 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.
Homozygous deletions of this gene lead to defects in photoreceptor outer segment disc morphogenesis and progressive degeneration of retinal rod and cone photoreceptors with notable absence of extra-ocular phenotypes such as obesity or polydactyly.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    4
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
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
    708
  • Tissues
    2
  • cDNA Data
    40
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000059482 Ensembl Gene Model | MGI Sequence Detail 24928 C57BL/6J ±  kb
    transcript ENSMUST00000101504 Ensembl | MGI Sequence Detail 2053 Not Applicable  
    polypeptide ENSMUSP00000103966 Ensembl | MGI Sequence Detail 210 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 40
      cDNA 40

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2135558, MGI:6715961
    References
    more
    • Summaries
      All 31
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 4
      Phenotypes 6
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory