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Gene

IFT43

intraflagellar transport 43

Summary

Cytogenetic location
14q24.3
Coordinates
Chromosome 14: 75,985,763–76,083,742 (GRCh38)
Exons
9 exons across 98 kb
Protein
208 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ32173, MGC16028
Previous symbols
C14orf179
MANE Select transcript
ENST00000314067.11NM_001102564.3
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 reports relevant to this gene

  • Ellis-van Creveld Syndrome and Cranioectodermal Dysplasia

    • Cranioectodermal dysplasiaAutosomal recessive

      A ciliopathy with skull shape changes, short limbs, sparse hair and dental anomalies, and a risk of progressive kidney disease.

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

      Regular kidney and liver monitoring is advised.

  • Syndromic Craniosynostosis

    • Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.

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

      Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.

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.

      • 1 GenCC submitter rates 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 IFT43 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where IFT43 sits. IFT43 and 7 genes near it on chromosome 14, from 75,534,753 to 76,534,752.Chromosome 1414q24.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3375.6 Mb75.8 Mb76 Mb76.2 Mb76.4 MbBATF: 75,522,455–75,546,993, forward strandBATFFLVCR2: 75,578,591–75,663,214, forward strandFLVCR2TTLL5: 75,633,625–75,955,084, forward strandTTLL5ERG28: 75,648,079–75,661,570, reverse strandERG28TGFB3: 75,958,066–75,983,026, reverse strandTGFB3IFT43: 75,985,763–76,083,742, forward strandIFT43GPATCH2L: 76,151,905–76,254,342, forward strandGPATCH2LESRRB: 76,310,712–76,501,837, forward strandESRRBDiagram of IFT43: 9 exons on the forward strand of chromosome 14Exon 1: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 1: 75,985,763–75,985,840, 78 basesExon 2: 75,988,885–75,988,977, 93 basesExon 3: 76,022,327–76,022,394, 68 basesExon 4: 76,058,642–76,058,674, 33 basesExon 5: 76,059,327–76,059,373, 47 basesExon 6: 76,082,295–76,082,367, 73 basesExon 7: 76,082,617–76,082,692, 76 basesExon 8: 76,083,227–76,083,289, 63 basesExon 9: 76,083,458–76,083,742, 285 bases1595′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 0.8 kb of the gene's 98 kb; 627 of those bases code for the protein.

How a genome test reads IFT43

16

positions in IFT43 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 98 kb of IFT43, introns included, not only the 0.8 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.). IFT43 gene: intraflagellar transport 43. Retrieved 16 October 2026, from https://dantelabs.com/genes/ift43

Vancouver

Dante Labs. IFT43 gene: intraflagellar transport 43 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ift43

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