Seroatlas · Human Serome Atlas

CFAP418

Cilia- and flagella-associated protein 418

Also known as: BBS21, C8orf37, CF418_HUMAN, CORD16, FAP418, FLJ30600, MOT25, RP64

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96NL8
Gene
CFAP418
Ensembl
ENSG00000156172
Chromosome
8
Canonical length
207 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Plasma membrane,Cell Junctions,Primary cilium,Centrosome

OverviewNCBI Gene

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

207 residues, UniProt reviewed canonical sequence.

>Q96NL8|CFAP418
     1  MAEDLDELLD EVESKFCTPD LLRRGMVEQP KGCGGGTHSS DRNQAKAKET LRSTETFKKE
    61  DDLDSLINEI LEEPNLDKKP SKLKSKSSGN TSVRASIEGL GKSCSPVYLG GSSIPCGIGT
   121  NISWRACDHL RCIACDFLVV SYDDYMWDKS CDYLFFRNNM PEFHKLKAKL IKKKGTRAYA
   181  CQCSWRTIEE VTDLQTDHQL RWVCGKH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP418 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.48
Highest tissue expression
4.7 nTPM

Expression across tissuesHPA

Tissue

  • retina: 4.7 nTPM
  • fallopian tube: 3.6 nTPM
  • ovary: 3.6 nTPM
  • parathyroid gland: 3.3 nTPM
  • epididymis: 2.9 nTPM
  • basal ganglia: 2.6 nTPM

Single-cell type

  • ependymal cells: 45 nCPM
  • adrenal medulla cells: 32 nCPM
  • respiratory ciliated cells: 26 nCPM
  • fallopian tube ciliated cells: 20 nCPM
  • choroid plexus epithelial cells: 18 nCPM
  • thyrotrophs: 16 nCPM

Immune cell

  • naive B-cell: 0.8 nTPM
  • NK-cell: 0.7 nTPM
  • MAIT T-cell: 0.5 nTPM
  • myeloid DC: 0.5 nTPM
  • naive CD8 T-cell: 0.5 nTPM
  • memory B-cell: 0.4 nTPM

Brain region

  • choroid plexus: 8.3 nTPM
  • midbrain: 7.6 nTPM
  • spinal cord: 7.3 nTPM
  • white matter: 7.2 nTPM
  • medulla oblongata: 6.5 nTPM
  • cerebellum: 6.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP418.

Disease | AllUniProt

Conditions CFAP418 is implicated in, by any mechanism.

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 276 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.42
gnomAD pLI
0
DepMap mean gene effect
0.02
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Cilia- and flagella-associated protein 418
  • Retinal Maintenance

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP418 as an antibody target. Whether an autoantibody or antibody against CFAP418 could matter depends on whether native CFAP418 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP418 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CFAP418 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CFAP418. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...