Skip to content
Use your HSA or FSA funds

Gene

IFT27

intraflagellar transport 27

Summary

Cytogenetic location
22q12.3
Coordinates
Chromosome 22: 36,758,211–36,776,119 (GRCh38)
Exons
7 exons across 17.9 kb
Protein
186 amino acids
Inheritance
Autosomal recessive
Also known as
RAYL, BBS19, FAP156, CFAP156
Previous symbols
RABL4
MANE Select transcript
ENST00000433985.7NM_001177701.3
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 report 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.

      • 2 GenCC submitters rate 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.

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 IFT27 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where IFT27 sits. IFT27 and 18 genes near it on chromosome 22, from 36,267,165 to 37,267,164.Chromosome 2222q12.3p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3336.4 Mb36.6 Mb36.8 Mb37 Mb37.2 MbAPOL1: 36,253,071–36,267,530, forward strandAPOL1MYH9: 36,281,277–36,388,018, reverse strandMYH9TXN2: 36,466,895–36,482,072, reverse strandTXN2FOXRED2: 36,487,190–36,507,221, reverse strandFOXRED2EIF3D: 36,510,847–36,529,245, reverse strandEIF3DCACNG2: 36,560,857–36,703,779, reverse strandCACNG2IFT27: 36,758,211–36,776,119, reverse strandIFT27PVALB: 36,800,682–36,819,479, reverse strandPVALBNCF4: 36,860,795–36,878,067, forward strandNCF4CSF2RB: 36,913,590–36,940,454, forward strandCSF2RBCIMIP4: 36,991,119–37,007,884, reverse strandCIMIP4TST: 37,010,859–37,024,797, reverse strandTSTMPST: 37,019,635–37,029,828, forward strandMPSTKCTD17: 37,051,705–37,063,390, forward strandKCTD17TMPRSS6: 37,065,005–37,110,890, reverse strandTMPRSS6IL2RB: 37,118,666–37,176,676, reverse strandIL2RBC1QTNF6: 37,180,166–37,199,385, reverse strandC1QTNF6SSTR3: 37,204,237–37,212,482, reverse strandSSTR3RAC2: 37,225,270–37,259,594, reverse strandRAC2Diagram of IFT27: 7 exons on the reverse strand of chromosome 22Exon 5: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 7: 36,758,211–36,758,409, 199 basesExon 6: 36,762,904–36,763,013, 110 basesExon 5: 36,763,919–36,764,036, 118 basesExon 4: 36,766,138–36,766,197, 60 basesExon 3: 36,767,306–36,767,365, 60 basesExon 2: 36,767,783–36,767,862, 80 basesExon 1: 36,775,674–36,776,119, 446 bases76543215′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 1.1 kb of the gene's 17.9 kb; 561 of those bases code for the protein.

How a genome test reads IFT27

3

positions in IFT27 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 17.9 kb of IFT27, introns included, not only the 1.1 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.). IFT27 gene: intraflagellar transport 27. Retrieved 16 October 2026, from https://dantelabs.com/genes/ift27

Vancouver

Dante Labs. IFT27 gene: intraflagellar transport 27 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ift27

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test