Gene
HPCA
hippocalcin
- HGNC 5144↗(opens in a new tab)
- Ensembl gene ENSG00000121905↗(opens in a new tab)
- NCBI Gene 3208↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p35.1
- Coordinates
- Chromosome 1: 32,886,491–32,894,646 (GRCh38)
- Exons
- 4 exons across 8.2 kb
- Protein
- 193 amino acids
- Previous symbols
- DYT2
- MANE Select transcript
- ENST00000373467.4NM_002143.3
- 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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Dystonia, Myotonia, Paroxysmal Dyskinesia
- Inherited Dystonia
Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.
- 3 GenCC submitters rate it definitive or strong
How HPCA is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
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 1.4 kb of the gene's 8.2 kb; 582 of those bases code for the protein.
Genes linked to the same conditions
- ACTBactin betaShares 1 condition
- ANO3anoctamin 3Shares 1 condition
- ARFGEF3ARFGEF family member 3Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
- BCAP31B cell receptor associated protein 31Shares 1 condition
- COL6A3collagen type VI alpha 3 chainShares 1 condition
- DCAF17DDB1 and CUL4 associated factor 17Shares 1 condition
- GCH1GTP cyclohydrolase 1Shares 1 condition
- GNALG protein subunit alpha LShares 1 condition
- KCNJ10potassium inwardly rectifying channel subfamily J member 10Shares 1 condition
- KCTD17potassium channel tetramerization domain containing 17Shares 1 condition
- KMT2Blysine methyltransferase 2BShares 1 condition
Traits linked to HPCA
The Human Phenotype Ontology lists these as features of the rare conditions HPCA can cause. Each trait's page lists the other genes linked to it.
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.
- 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.
- 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.). HPCA gene: hippocalcin. Retrieved 16 October 2026, from https://dantelabs.com/genes/hpca
Dante Labs. HPCA gene: hippocalcin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hpca
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