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Gene

KIAA0586

KIAA0586

Summary

Cytogenetic location
14q23.1
Coordinates
Chromosome 14: 58,427,719–58,551,297 (GRCh38)
Exons
31 exons across 123.6 kb
Protein
1,548 amino acids
Inheritance
Autosomal recessive
Also known as
Talpid3, JBTS23
MANE Select transcript
ENST00000652326.2NM_001329943.3
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

  • Joubert Syndrome And Related Disorders

    • Autosomal recessive

      Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.

      • 3 GenCC submitters rate it definitive or strong
    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • 4 GenCC submitters rate it definitive or strong

Broader groupings

  • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

    • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

      One of 57 genes linked to it

      A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

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 KIAA0586 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 KIAA0586 sits. KIAA0586 and 7 genes near it on chromosome 14, from 57,989,508 to 58,989,507.Chromosome 1414q23.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3358 Mb58.2 Mb58.4 Mb58.6 Mb58.8 MbARMH4: 57,999,735–58,298,139, reverse strandARMH4ACTR10: 58,199,997–58,238,757, forward strandACTR10PSMA3: 58,244,740–58,272,096, forward strandPSMA3ARID4A: 58,298,384–58,373,995, forward strandARID4ATOMM20L: 58,395,928–58,408,702, forward strandTOMM20LTIMM9: 58,398,508–58,427,662, reverse strandTIMM9KIAA0586: 58,427,719–58,551,297, forward strandKIAA0586DACT1: 58,633,967–58,648,612, forward strandDACT1Diagram of KIAA0586: 31 exons on the forward strand of chromosome 14Exon 1: 10 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 14: 7 known disease-causing sitesExon 16: 5 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 19: 2 known disease-causing sitesExon 20: 3 known disease-causing sitesExon 21: 4 known disease-causing sitesExon 22: 3 known disease-causing sitesExon 23: 6 known disease-causing sitesExon 24: 6 known disease-causing sitesExon 25: 3 known disease-causing sitesExon 27: 6 known disease-causing sitesExon 28: 3 known disease-causing sitesExon 29: 4 known disease-causing sitesExon 30: 2 known disease-causing sitesExon 1: 58,427,719–58,428,463, 745 basesExon 2: 58,429,363–58,429,433, 71 basesExon 3: 58,430,648–58,430,717, 70 basesExon 4: 58,432,388–58,432,457, 70 basesExon 5: 58,442,706–58,442,880, 175 basesExon 6: 58,443,954–58,444,175, 222 basesExon 7: 58,448,340–58,448,493, 154 basesExon 8: 58,450,579–58,450,746, 168 basesExon 9: 58,453,350–58,453,473, 124 basesExon 10: 58,456,702–58,456,810, 109 basesExon 11: 58,457,759–58,457,979, 221 basesExon 12: 58,458,473–58,458,545, 73 basesExon 13: 58,459,843–58,460,070, 228 basesExon 14: 58,460,986–58,461,160, 175 basesExon 15: 58,465,835–58,466,029, 195 basesExon 16: 58,467,735–58,467,922, 188 basesExon 17: 58,470,613–58,470,723, 111 basesExon 18: 58,472,199–58,472,279, 81 basesExon 19: 58,474,607–58,474,797, 191 basesExon 20: 58,477,123–58,477,241, 119 basesExon 21: 58,482,513–58,482,712, 200 basesExon 22: 58,487,007–58,487,166, 160 basesExon 23: 58,487,887–58,488,109, 223 basesExon 24: 58,488,621–58,488,874, 254 basesExon 25: 58,490,164–58,490,240, 77 basesExon 26: 58,492,144–58,492,275, 132 basesExon 27: 58,498,783–58,498,960, 178 basesExon 28: 58,508,555–58,508,709, 155 basesExon 29: 58,512,522–58,512,627, 106 basesExon 30: 58,540,071–58,540,136, 66 basesExon 31: 58,547,781–58,551,297, 3,517 bases151015202530315′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 8.6 kb of the gene's 123.6 kb; 4,647 of those bases code for the protein.

How a genome test reads KIAA0586

147

positions in KIAA0586 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 123.6 kb of KIAA0586, introns included, not only the 8.6 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.). KIAA0586 gene: KIAA0586. Retrieved 17 October 2026, from https://dantelabs.com/genes/kiaa0586

Vancouver

Dante Labs. KIAA0586 gene: KIAA0586 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kiaa0586

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