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Gene

PNKD

PNKD metallo-beta-lactamase domain containing

Summary

Cytogenetic location
2q35
Coordinates
Chromosome 2: 218,270,519–218,346,793 (GRCh38)
Exons
10 exons across 76.3 kb
Protein
385 amino acids
Inheritance
Autosomal dominant
Also known as
DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1, MR-1S
MANE Select transcript
ENST00000273077.9NM_015488.5
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

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Paroxysmal DyskinesiaAutosomal dominant

      Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).

      • 2 GenCC submitters rate it definitive or strong
    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 2 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 PNKD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where PNKD sits. PNKD and 21 genes near it on chromosome 2, from 217,808,656 to 218,808,655.Chromosome 22q35p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3218 Mb218.2 Mb218.4 Mb218.6 Mb218.8 MbTNS1: 217,799,588–218,033,982, reverse strandTNS1RUFY4: 218,034,960–218,090,649, forward strandRUFY4CXCR2: 218,125,269–218,137,251, forward strandCXCR2CXCR1: 218,162,841–218,166,969, reverse strandCXCR1ARPC2: 218,216,630–218,254,356, forward strandARPC2GPBAR1: 218,259,496–218,263,861, forward strandGPBAR1AAMP: 218,264,125–218,270,889, reverse strandAAMPPNKD: 218,270,519–218,346,793, forward strandPNKDTMBIM1: 218,274,193–218,292,589, reverse strandTMBIM1CATIP: 218,356,838–218,369,962, forward strandCATIPSLC11A1: 218,382,006–218,396,906, forward strandSLC11A1CTDSP1: 218,397,136–218,405,942, forward strandCTDSP1VIL1: 218,419,083–218,453,295, forward strandVIL1USP37: 218,450,251–218,568,768, reverse strandUSP37CNOT9: 218,568,575–218,597,080, forward strandCNOT9PLCD4: 218,607,855–218,637,186, forward strandPLCD4ZNF142: 218,633,329–218,659,655, reverse strandZNF142BCS1L: 218,658,764–218,668,759, forward strandBCS1LRNF25: 218,662,081–218,672,009, reverse strandRNF25STK36: 218,672,027–218,702,717, forward strandSTK36TTLL4: 218,710,773–218,759,724, forward strandTTLL4CYP27A1: 218,781,688–218,825,335, forward strandCYP27A1Diagram of PNKD: 10 exons on the forward strand of chromosome 2Exon 1: 2 known disease-causing sitesExon 1: 218,270,519–218,270,602, 84 basesExon 2: 218,271,381–218,271,549, 169 basesExon 3: 218,339,783–218,339,898, 116 basesExon 4: 218,340,029–218,340,141, 113 basesExon 5: 218,340,728–218,340,786, 59 basesExon 6: 218,341,534–218,341,626, 93 basesExon 7: 218,341,981–218,342,144, 164 basesExon 8: 218,343,500–218,343,586, 87 basesExon 9: 218,344,455–218,344,570, 116 basesExon 10: 218,344,808–218,346,793, 1,986 bases15105′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 3 kb of the gene's 76.3 kb; 1,158 of those bases code for the protein.

How a genome test reads PNKD

2

positions in PNKD 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 76.3 kb of PNKD, introns included, not only the 3 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.). PNKD gene: PNKD metallo-beta-lactamase domain containing. Retrieved 17 October 2026, from https://dantelabs.com/genes/pnkd

Vancouver

Dante Labs. PNKD gene: PNKD metallo-beta-lactamase domain containing [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pnkd

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