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Gene

IFT52

intraflagellar transport 52

Summary

Cytogenetic location
20q13.12
Coordinates
Chromosome 20: 43,590,937–43,647,299 (GRCh38)
Exons
14 exons across 56.4 kb
Protein
437 amino acids
Inheritance
Autosomal recessive
Also known as
CGI-53, NGD5, dJ1028D15.1, NGD2
Previous symbols
C20orf9
MANE Select transcript
ENST00000373030.8NM_016004.5
Locus type
gene with protein product

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.

      • ClinGen rates the link moderate
      • 3 GenCC submitters rate 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.

      • ClinGen rates the link moderate
      • 3 GenCC submitters rate 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.

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 IFT52 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 20, with a bracket where IFT52 sits. IFT52 and 10 genes near it on chromosome 20, from 43,119,118 to 44,119,117.Chromosome 2020q13.12p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3343.2 Mb43.4 Mb43.6 Mb43.8 Mb44 MbPTPRT: 42,072,752–43,189,970, reverse strandPTPRTSRSF6: 43,457,875–43,504,984, forward strandSRSF6: 43,458,054–43,541,881, forward strandL3MBTL1: 43,489,442–43,550,954, forward strandL3MBTL1: 43,540,171–43,569,498, forward strandSGK2: 43,558,968–43,588,237, forward strandSGK2IFT52: 43,590,937–43,647,299, forward strandIFT52MYBL2: 43,667,005–43,716,495, forward strandMYBL2GTSF1L: 43,726,164–43,727,002, reverse strandGTSF1LTOX2: 43,914,802–44,069,616, forward strandTOX2JPH2: 44,097,006–44,189,032, reverse strandJPH2Diagram of IFT52: 14 exons on the forward strand of chromosome 20Exon 6: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 1: 43,590,937–43,591,054, 118 basesExon 2: 43,594,693–43,594,817, 125 basesExon 3: 43,596,435–43,596,522, 88 basesExon 4: 43,603,760–43,603,889, 130 basesExon 5: 43,604,183–43,604,258, 76 basesExon 6: 43,605,002–43,605,073, 72 basesExon 7: 43,613,850–43,613,976, 127 basesExon 8: 43,618,940–43,619,026, 87 basesExon 9: 43,620,857–43,620,925, 69 basesExon 10: 43,623,891–43,624,045, 155 basesExon 11: 43,635,926–43,636,013, 88 basesExon 12: 43,637,145–43,637,253, 109 basesExon 13: 43,642,479–43,642,624, 146 basesExon 14: 43,646,936–43,647,299, 364 bases124681012145′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 1.8 kb of the gene's 56.4 kb; 1,314 of those bases code for the protein.

How a genome test reads IFT52

2

positions in IFT52 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 56.4 kb of IFT52, introns included, not only the 1.8 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.). IFT52 gene: intraflagellar transport 52. Retrieved 16 October 2026, from https://dantelabs.com/genes/ift52

Vancouver

Dante Labs. IFT52 gene: intraflagellar transport 52 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ift52

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