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Gene

CEP250

centrosomal protein 250

Summary

Cytogenetic location
20q11.22
Coordinates
Chromosome 20: 35,455,598–35,519,280 (GRCh38)
Exons
35 exons across 63.7 kb
Protein
2,442 amino acids
Also known as
C-NAP1
Previous symbols
CEP2
MANE Select transcript
ENST00000397527.6NM_007186.6
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

No Genome Test report reads CEP250 yet. The test sequences your whole genome, so your data includes it all the same.

How CEP250 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 CEP250 sits. CEP250 and 23 genes near it on chromosome 20, from 34,987,439 to 35,987,438.Chromosome 2020q11.22p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3335 Mb35.2 Mb35.4 Mb35.6 Mb35.8 MbMYH7B: 34,955,810–35,002,440, forward strandMYH7BTRPC4AP: 34,995,209–35,092,868, reverse strandTRPC4APEDEM2: 35,113,122–35,147,404, reverse strandEDEM2PROCR: 35,153,330–35,216,253, forward strandPROCRMMP24OS: 35,201,745–35,278,131, reverse strandMMP24: 35,226,559–35,277,030, forward strandMMP24: 35,267,885–35,280,043, reverse strandEIF6: 35,278,891–35,285,009, reverse strandEIF6SACK1C: 35,285,731–35,292,425, reverse strandSACK1CUQCC1: 35,301,219–35,412,070, reverse strandUQCC1GDF5: 35,433,347–35,454,754, reverse strandGDF5CEP250: 35,455,598–35,519,280, forward strandCEP250C20orf173: 35,523,186–35,529,652, reverse strandC20orf173ERGIC3: 35,542,022–35,557,634, forward strandERGIC3SPAG4: 35,615,594–35,621,613, forward strandSPAG4CPNE1: 35,626,031–35,664,962, reverse strandCPNE1: 35,632,340–35,674,544, reverse strandRBM12: 35,648,925–35,664,956, reverse strandRBM12NFS1: 35,668,052–35,699,376, reverse strandNFS1ROMO1: 35,699,228–35,703,939, forward strandROMO1RBM39: 35,701,347–35,742,312, reverse strandRBM39PHF20: 35,771,947–35,950,385, forward strandPHF20SCAND1: 35,953,617–35,959,472, reverse strandSCAND1CNBD2: 35,954,564–36,030,700, forward strandCNBD2Diagram of CEP250: 35 exons on the forward strand of chromosome 20Exon 7: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 18: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 26: 2 known disease-causing sitesExon 29: 1 known disease-causing siteExon 30: 6 known disease-causing sitesExon 1: 35,455,598–35,455,751, 154 basesExon 2: 35,458,304–35,458,374, 71 basesExon 3: 35,459,983–35,460,105, 123 basesExon 4: 35,462,265–35,462,553, 289 basesExon 5: 35,463,575–35,463,631, 57 basesExon 6: 35,465,743–35,465,825, 83 basesExon 7: 35,466,039–35,466,204, 166 basesExon 8: 35,466,966–35,467,072, 107 basesExon 9: 35,467,304–35,467,555, 252 basesExon 10: 35,469,890–35,469,986, 97 basesExon 11: 35,472,050–35,472,151, 102 basesExon 12: 35,472,673–35,472,831, 159 basesExon 13: 35,473,374–35,473,552, 179 basesExon 14: 35,473,870–35,474,052, 183 basesExon 15: 35,475,502–35,475,646, 145 basesExon 16: 35,476,449–35,476,595, 147 basesExon 17: 35,477,871–35,478,101, 231 basesExon 18: 35,479,231–35,479,424, 194 basesExon 19: 35,479,646–35,479,773, 128 basesExon 20: 35,479,976–35,480,145, 170 basesExon 21: 35,490,637–35,490,804, 168 basesExon 22: 35,491,212–35,491,346, 135 basesExon 23: 35,493,429–35,493,572, 144 basesExon 24: 35,494,524–35,494,657, 134 basesExon 25: 35,496,577–35,496,715, 139 basesExon 26: 35,497,719–35,498,067, 349 basesExon 27: 35,498,595–35,498,716, 122 basesExon 28: 35,500,049–35,500,169, 121 basesExon 29: 35,501,845–35,501,966, 122 basesExon 30: 35,502,390–35,505,005, 2,616 basesExon 31: 35,507,738–35,507,851, 114 basesExon 32: 35,508,035–35,508,190, 156 basesExon 33: 35,508,943–35,509,044, 102 basesExon 34: 35,509,998–35,510,054, 57 basesExon 35: 35,511,363–35,519,280, 7,918 bases151015202530355′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 15.4 kb of the gene's 63.7 kb; 7,329 of those bases code for the protein.

How a genome test reads CEP250

21

positions in CEP250 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 63.7 kb of CEP250, introns included, not only the 15.4 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.
  • 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.). CEP250 gene: centrosomal protein 250. Retrieved 17 October 2026, from https://dantelabs.com/genes/cep250

Vancouver

Dante Labs. CEP250 gene: centrosomal protein 250 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cep250

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