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Gene

PANK2

pantothenate kinase 2

Summary

Cytogenetic location
20p13
Coordinates
Chromosome 20: 3,889,387–3,929,887 (GRCh38)
Exons
7 exons across 40.5 kb
Protein
460 amino acids
Also known as
HSS, FLJ11729, PKAN, HARP
Previous symbols
C20orf48, NBIA1
MANE Select transcript
ENST00000610179.7NM_001386393.1
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

  • Neurodegeneration with Brain Iron Accumulation (NBIA)

    • Neurodegeneration with Brain Iron Accumulation

      A group of disorders including PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), neuroferritinopathy (FTL) and aceruloplasminemia (CP), with mostly recessive inheritance.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Symptom treatment for dystonia and parkinsonism, iron chelation for aceruloplasminemia, and carrier testing for relatives in recessive forms.

How PANK2 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 PANK2 sits. PANK2 and 14 genes near it on chromosome 20, from 3,409,637 to 4,409,636.Chromosome 2020p13p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.333.6 Mb3.8 Mb4 Mb4.2 Mb4.4 MbATRN: 3,470,965–3,651,118, forward strandATRNGFRA4: 3,659,248–3,663,483, reverse strandGFRA4ADAM33: 3,667,962–3,682,249, reverse strandADAM33SIGLEC1: 3,686,970–3,712,647, reverse strandSIGLEC1HSPA12B: 3,730,248–3,753,553, forward strandADISSP: 3,751,220–3,768,738, reverse strandADISSPSPEF1: 3,777,504–3,781,448, reverse strandSPEF1CENPB: 3,783,851–3,786,740, reverse strandCENPBCDC25B: 3,786,772–3,806,730, forward strandCDC25BAP5S1: 3,811,257–3,828,909, forward strandAP5S1MAVS: 3,842,694–3,876,123, forward strandMAVSPANK2: 3,889,387–3,929,887, forward strandPANK2RNF24: 3,927,309–4,015,598, reverse strandRNF24SMOX: 4,120,980–4,187,748, forward strandSMOXADRA1D: 4,220,283–4,249,305, reverse strandADRA1DDiagram of PANK2: 7 exons on the forward strand of chromosome 20Exon 1: 18 known disease-causing sitesExon 2: 24 known disease-causing sitesExon 3: 20 known disease-causing sitesExon 4: 16 known disease-causing sitesExon 5: 16 known disease-causing sitesExon 6: 11 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 1: 3,889,387–3,889,728, 342 basesExon 2: 3,907,926–3,908,278, 353 basesExon 3: 3,910,577–3,910,830, 254 basesExon 4: 3,912,458–3,912,634, 177 basesExon 5: 3,916,927–3,917,050, 124 basesExon 6: 3,918,671–3,918,796, 126 basesExon 7: 3,923,244–3,929,887, 6,644 bases12345675′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 kb of the gene's 40.5 kb; 1,383 of those bases code for the protein.

How a genome test reads PANK2

125

positions in PANK2 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 40.5 kb of PANK2, introns included, not only the 8 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.). PANK2 gene: pantothenate kinase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/pank2

Vancouver

Dante Labs. PANK2 gene: pantothenate kinase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pank2

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