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Gene

CFAP418

cilia and flagella associated protein 418

Summary

Cytogenetic location
8q22.1
Coordinates
Chromosome 8: 95,244,913–95,269,201 (GRCh38)
Exons
6 exons across 24.3 kb
Protein
207 amino acids
Inheritance
Autosomal recessive
Also known as
MOT25, FLJ30600, CORD16, RP64, BBS21, FAP418, SMALLTALK
Previous symbols
C8orf37
MANE Select transcript
ENST00000286688.6NM_177965.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Bardet-Biedl and Alström Syndromes

    • Bardet-Biedl syndromeAutosomal recessive

      A recessive ciliopathy caused by variants in more than 20 genes (most often BBS1 and BBS10) that causes retinal dystrophy, obesity, extra fingers or toes, kidney anomalies and learning difficulties.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Diagnosis allows eye, kidney and diabetes surveillance, and setmelanotide is an approved treatment for obesity in Bardet-Biedl syndrome.

Broader groupings

  • Retinitis Pigmentosa

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CFAP418 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where CFAP418 sits. CFAP418 and 6 genes near it on chromosome 8, from 94,757,057 to 95,757,056.Chromosome 88q22.1p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.394.8 Mb95 Mb95.2 Mb95.4 Mb95.6 MbDPY19L4: 94,719,677–94,793,836, forward strandDPY19L4INTS8: 94,813,311–94,881,746, forward strandINTS8CCNE2: 94,874,347–94,896,680, reverse strandCCNE2NDUFAF6: 94,895,533–95,116,455, forward strandNDUFAF6TP53INP1: 94,925,972–94,949,400, reverse strandTP53INP1PLEKHF2: 95,115,642–95,156,698, forward strandPLEKHF2CFAP418: 95,244,913–95,269,201, reverse strandCFAP418Diagram of CFAP418: 6 exons on the reverse strand of chromosome 8Exon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 6: 95,244,913–95,247,770, 2,858 basesExon 5: 95,252,188–95,252,283, 96 basesExon 4: 95,259,840–95,259,905, 66 basesExon 3: 95,260,468–95,260,532, 65 basesExon 2: 95,263,687–95,263,774, 88 basesExon 1: 95,269,035–95,269,201, 167 bases6543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.3 kb of the gene's 24.3 kb; 624 of those bases code for the protein.

How a genome test reads CFAP418

10

positions in CFAP418 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 24.3 kb of CFAP418, introns included, not only the 3.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CFAP418 gene: cilia and flagella associated protein 418. Retrieved 17 October 2026, from https://dantelabs.com/genes/cfap418

Vancouver

Dante Labs. CFAP418 gene: cilia and flagella associated protein 418 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cfap418

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