Gene
HKDC1
hexokinase domain containing 1
- HGNC 23302↗(opens in a new tab)
- Ensembl gene ENSG00000156510↗(opens in a new tab)
- NCBI Gene 80201↗(opens in a new tab)
Summary
- Cytogenetic location
- 10q22.1
- Coordinates
- Chromosome 10: 69,220,332–69,267,552 (GRCh38)
- Exons
- 18 exons across 47.2 kb
- Protein
- 917 amino acids
- Also known as
- FLJ37767, FLJ22761
- MANE Select transcript
- ENST00000354624.6NM_025130.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads HKDC1 yet. The test sequences your whole genome, so your data includes it all the same.
How HKDC1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 3.7 kb of the gene's 47.2 kb; 2,754 of those bases code for the protein.
How a genome test reads HKDC1
5
positions in HKDC1 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 HKDC1, introns included, not only the 3.7 kb of exons.
Traits linked to HKDC1
The Human Phenotype Ontology lists these as features of the rare conditions HKDC1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Difficulties with night vision
- Limited peripheral vision
- Paracentral scotoma
- Pigmentary retinopathy
- Visual impairment
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Blindness
Show 21 more traits
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Progressive night blindness
- Retina degeneration
- Spicular pigmentation of the retina
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Bulging cornea
- Cystoid macular edema
- Eye muscle paralysis
- Glaucoma
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Abnormal color vision
- Decreased clarity of vision
- Photopsia
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). HKDC1 gene: hexokinase domain containing 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/hkdc1
Dante Labs. HKDC1 gene: hexokinase domain containing 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hkdc1
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