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Cfap54 Gene Detail
Summary
  • Symbol
    Cfap54
  • Name
    cilia and flagella associated protein 54
  • Synonyms
    4930485B16Rik, Gm872, LOC380653
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922208
    NCBI Gene: 380654
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:92611481-92917480 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 47.44 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    7475 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1922208
 protein coding gene Chr10:92611471-92919085 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017647
 protein coding gene Chr10:94147262-94456198 (-)
A/J MGP_AJ_G0017626
 protein coding gene Chr10:90890425-91181001 (-)
AKR/J MGP_AKRJ_G0017584
 protein coding gene Chr10:93477398-93781134 (-)
BALB/cJ MGP_BALBcJ_G0017589
 protein coding gene Chr10:91156674-91452022 (-)
C3H/HeJ MGP_C3HHeJ_G0017412
 protein coding gene Chr10:93487874-93793826 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018046
 protein coding gene Chr10:97239215-97559027 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015728
 protein coding gene Chr10:86525628-86810003 (-)
CAST/EiJ MGP_CASTEiJ_G0016977
 protein coding gene Chr10:93443957-93746083 (-)
CBA/J MGP_CBAJ_G0017381
 protein coding gene Chr10:101274894-101612062 (-)
DBA/2J MGP_DBA2J_G0017487
 protein coding gene Chr10:89984217-90287371 (-)
FVB/NJ MGP_FVBNJ_G0017479
 protein coding gene Chr10:89211324-89500913 (-)
LP/J MGP_LPJ_G0017561
 protein coding gene Chr10:94766747-95077141 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017510
 protein coding gene Chr10:102641285-102964031 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018083
 protein coding gene Chr10:93385379-93679668 (-)
PWK/PhJ MGP_PWKPhJ_G0016758
 protein coding gene Chr10:90059527-90359701 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016546
 protein coding gene Chr10:92174268-92480397 (-)
WSB/EiJ MGP_WSBEiJ_G0017036
 protein coding gene Chr10:93343640-93656565 (-)



Homology
more
  • Human Ortholog
    CFAP54, cilia and flagella associated protein 54
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFAP54, cilia and flagella associated protein 54
  • Synonyms
    C12orf55, C12orf63
  • Links
    NCBI Gene ID: 144535
    neXtProt AC: NX_Q96N23
    UniProt: Q96N23

  • Chr Location
    12q23.1; chr12:96489571-96875555 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 1 allele in 3 genetic backgrounds
    13 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 inactivation of this gene causes background-dependent lethality and hydroencephaly, male sterility associated with defects in spermiogenesis, and impaired mucociliary clearance. Airway epithelial cilia show structural defects and a decrease in ciliary beat frequency and cilia-driven flow.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    5
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
    706
  • cDNA Data
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020014 Ensembl Gene Model | MGI Sequence Detail 306000 C57BL/6J ±  kb
    transcript ENSMUST00000212902 Ensembl | MGI Sequence Detail 9516 Not Applicable  
    polypeptide ENSMUSP00000148636 Ensembl | MGI Sequence Detail 3171 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 8

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2685718
    References
    more
    • Summaries
      All 34
      Gene Ontology 5
      Phenotypes 13
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:307547 Miyata H, et al., Analysis of the sperm flagellar axoneme using gene-modified mice. Exp Anim. 2020 Nov 12;69(4):374-381
    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
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory