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Gene

ANKH

ANKH inorganic pyrophosphate transport regulator

Summary

Cytogenetic location
5p15.2
Coordinates
Chromosome 5: 14,704,800–14,871,778 (GRCh38)
Exons
12 exons across 167 kb
Protein
492 amino acids
Inheritance
Autosomal dominant
Also known as
HANK, ANK, CPPDD, SLC62A1
Previous symbols
CCAL2, CMDJ
MANE Select transcript
ENST00000284268.8NM_054027.6
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 report relevant to this gene

  • Inherited Arthropathies

    • Familial chondrocalcinosis (CCAL2)Autosomal dominant

      Early-onset calcium pyrophosphate crystal deposits in joint cartilage causing pseudogout attacks and arthritis, caused by variants in ANKH.

      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ANKH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where ANKH sits. ANKH and 3 genes near it on chromosome 5, from 14,288,289 to 15,288,288.Chromosome 55p15.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.314.4 Mb14.6 Mb14.8 Mb15 Mb15.2 MbTRIO: 14,143,223–14,532,128, forward strandTRIOOTULINL: 14,581,792–14,616,180, forward strandOTULINLOTULIN: 14,664,664–14,716,529, forward strandOTULINANKH: 14,704,800–14,871,778, reverse strandANKHDiagram of ANKH: 12 exons on the reverse strand of chromosome 5Exon 10: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 1: 1 known disease-causing siteExon 12: 14,704,800–14,711,310, 6,511 basesExon 11: 14,712,874–14,712,973, 100 basesExon 10: 14,713,544–14,713,667, 124 basesExon 9: 14,716,706–14,716,835, 130 basesExon 8: 14,741,827–14,741,922, 96 basesExon 7: 14,745,870–14,745,962, 93 basesExon 6: 14,749,172–14,749,306, 135 basesExon 5: 14,751,069–14,751,239, 171 basesExon 4: 14,755,861–14,755,944, 84 basesExon 3: 14,758,480–14,758,598, 119 basesExon 2: 14,768,975–14,769,191, 217 basesExon 1: 14,871,352–14,871,778, 427 bases1210864215′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 8.2 kb of the gene's 167 kb; 1,479 of those bases code for the protein.

How a genome test reads ANKH

6

positions in ANKH 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 167 kb of ANKH, introns included, not only the 8.2 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.). ANKH gene: ANKH inorganic pyrophosphate transport regulator. Retrieved 17 October 2026, from https://dantelabs.com/genes/ankh

Vancouver

Dante Labs. ANKH gene: ANKH inorganic pyrophosphate transport regulator [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ankh

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