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Gene

POMK

protein O-mannose kinase

Summary

Cytogenetic location
8p11.21
Coordinates
Chromosome 8: 43,093,515–43,123,434 (GRCh38)
Exons
5 exons across 29.9 kb
Protein
350 amino acids
Also known as
FLJ23356, SgK196
MANE Select transcript
ENST00000331373.10NM_032237.5
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 report relevant to this gene

  • Congenital Muscular Dystrophies

    • Congenital muscular dystrophy

      A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).

      • 4 GenCC submitters rate it definitive or strong

How POMK is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where POMK sits. POMK and 9 genes near it on chromosome 8, from 42,608,475 to 43,608,474.Chromosome 88p11.21p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.342.8 Mb43 Mb43.2 Mb43.4 Mb43.6 MbCHRNB3: 42,697,341–42,738,553, forward strandCHRNB3CHRNA6: 42,752,620–42,796,392, reverse strandCHRNA6THAP1: 42,836,249–42,843,364, reverse strandTHAP1RNF170: 42,849,637–42,897,309, reverse strandRNF170HOOK3: 42,896,499–43,030,535, forward strandHOOK3: 43,018,424–43,077,334, forward strandFNTA: 43,034,194–43,085,793, forward strandFNTAPOMK: 43,093,515–43,123,434, forward strandPOMKHGSNAT: 43,140,374–43,202,855, forward strandHGSNATPOTEA: 43,292,483–43,363,518, forward strandPOTEADiagram of POMK: 5 exons on the forward strand of chromosome 8Exon 4: 11 known disease-causing sitesExon 5: 11 known disease-causing sitesExon 1: 43,093,515–43,093,563, 49 basesExon 2: 43,097,524–43,097,615, 92 basesExon 3: 43,102,505–43,102,600, 96 basesExon 4: 43,103,528–43,103,830, 303 basesExon 5: 43,122,107–43,123,434, 1,328 bases123455′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 1.9 kb of the gene's 29.9 kb; 1,053 of those bases code for the protein.

How a genome test reads POMK

23

positions in POMK 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 29.9 kb of POMK, introns included, not only the 1.9 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.). POMK gene: protein O-mannose kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/pomk

Vancouver

Dante Labs. POMK gene: protein O-mannose kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pomk

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