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Gene

CEP41

centrosomal protein 41

Summary

Cytogenetic location
7q32.2
Coordinates
Chromosome 7: 130,393,771–130,441,016 (GRCh38)
Exons
11 exons across 47.2 kb
Protein
373 amino acids
Inheritance
Autosomal recessive
Also known as
DKFZp762H1311, FLJ22445, JBTS15
Previous symbols
TSGA14
MANE Select transcript
ENST00000223208.10NM_018718.3
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.

      • 2 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.

      • 2 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.

      • 2 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 CEP41 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where CEP41 sits. CEP41 and 13 genes near it on chromosome 7, from 129,917,394 to 130,917,393.Chromosome 77q32.2p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3130 Mb130.2 Mb130.4 Mb130.6 Mb130.8 MbUBE2H: 129,830,732–129,952,988, reverse strandUBE2HZC3HC1: 130,018,286–130,051,401, reverse strandZC3HC1KLHDC10: 130,070,534–130,135,720, forward strandKLHDC10TMEM209: 130,164,713–130,207,770, reverse strandTMEM209SSMEM1: 130,206,344–130,219,343, forward strandSSMEM1CPA2: 130,266,821–130,289,798, forward strandCPA2CPA4: 130,293,118–130,324,180, forward strandCPA4CPA5: 130,344,816–130,368,730, forward strandCPA5CPA1: 130,380,339–130,388,114, forward strandCPA1CEP41: 130,393,771–130,441,016, reverse strandCEP41MEST: 130,486,171–130,522,765, forward strandMESTCOPG2: 130,505,553–130,668,755, reverse strandCOPG2TSGA13: 130,668,643–130,687,432, reverse strandTSGA13KLF14: 130,730,697–130,734,207, reverse strandKLF14Diagram of CEP41: 11 exons on the reverse strand of chromosome 7Exon 10: 3 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 11: 130,393,771–130,399,039, 5,269 basesExon 10: 130,400,039–130,400,254, 216 basesExon 9: 130,400,707–130,400,821, 115 basesExon 8: 130,401,881–130,401,948, 68 basesExon 7: 130,402,648–130,402,799, 152 basesExon 6: 130,404,564–130,404,708, 145 basesExon 5: 130,411,122–130,411,191, 70 basesExon 4: 130,412,179–130,412,240, 62 basesExon 3: 130,416,919–130,416,966, 48 basesExon 2: 130,427,955–130,428,018, 64 basesExon 1: 130,440,934–130,441,016, 83 bases1110864215′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 6.3 kb of the gene's 47.2 kb; 1,122 of those bases code for the protein.

How a genome test reads CEP41

16

positions in CEP41 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 47.2 kb of CEP41, introns included, not only the 6.3 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.). CEP41 gene: centrosomal protein 41. Retrieved 16 October 2026, from https://dantelabs.com/genes/cep41

Vancouver

Dante Labs. CEP41 gene: centrosomal protein 41 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cep41

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