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Gene

PRKDC

protein kinase, DNA-activated, catalytic subunit

Summary

Cytogenetic location
8q11.21
Coordinates
Chromosome 8: 47,773,111–47,960,136 (GRCh38)
Exons
86 exons across 187 kb
Protein
4,128 amino acids
Inheritance
Autosomal recessive
Also known as
DNPK1, p350, DNAPK, XRCC7, DNA-PKcs, DNAPKc, DNA-PKC, p460
Previous symbols
HYRC, HYRC1
MANE Select transcript
ENST00000314191.7NM_006904.7
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Severe Combined Immunodeficiency

    • Autosomal recessive

      Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PRKDC is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where PRKDC sits. PRKDC and 4 genes near it on chromosome 8, from 47,366,624 to 48,366,623.Chromosome 88q11.21p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.347.4 Mb47.6 Mb47.8 Mb48 Mb48.2 MbSPIDR: 47,260,568–47,737,022, forward strandSPIDRCEBPD: 47,735,634–47,738,164, reverse strandCEBPDPRKDC: 47,773,111–47,960,136, reverse strandPRKDCMCM4: 47,960,185–47,979,181, forward strandMCM4UBE2V2: 48,008,410–48,067,523, forward strandUBE2V2Diagram of PRKDC: 86 exons on the reverse strand of chromosome 8Exon 66: 1 known disease-causing siteExon 42: 1 known disease-causing siteExon 86: 47,773,111–47,774,377, 1,267 basesExon 85: 47,776,844–47,776,983, 140 basesExon 84: 47,777,686–47,777,874, 189 basesExon 83: 47,778,459–47,778,660, 202 basesExon 82: 47,778,728–47,778,799, 72 basesExon 81: 47,779,004–47,779,093, 90 basesExon 80: 47,782,162–47,782,254, 93 basesExon 79: 47,782,378–47,782,598, 221 basesExon 78: 47,783,742–47,783,809, 68 basesExon 77: 47,785,113–47,785,317, 205 basesExon 76: 47,788,906–47,789,049, 144 basesExon 75: 47,789,151–47,789,238, 88 basesExon 74: 47,794,290–47,794,501, 212 basesExon 73: 47,798,237–47,798,397, 161 basesExon 72: 47,799,210–47,799,390, 181 basesExon 71: 47,800,793–47,800,986, 194 basesExon 70: 47,803,306–47,803,480, 175 basesExon 69: 47,807,137–47,807,326, 190 basesExon 68: 47,817,450–47,817,561, 112 basesExon 67: 47,819,402–47,819,510, 109 basesExon 66: 47,820,719–47,820,943, 225 basesExon 65: 47,821,604–47,821,792, 189 basesExon 64: 47,823,858–47,823,996, 139 basesExon 63: 47,826,656–47,826,861, 206 basesExon 62: 47,828,168–47,828,347, 180 basesExon 61: 47,830,605–47,830,736, 132 basesExon 60: 47,831,814–47,831,926, 113 basesExon 59: 47,834,196–47,834,396, 201 basesExon 58: 47,836,338–47,836,527, 190 basesExon 57: 47,837,212–47,837,419, 208 basesExon 56: 47,839,148–47,839,246, 99 basesExon 55: 47,840,016–47,840,189, 174 basesExon 54: 47,849,154–47,849,303, 150 basesExon 53: 47,849,379–47,849,503, 125 basesExon 52: 47,852,673–47,852,784, 112 basesExon 51: 47,854,083–47,854,214, 132 basesExon 50: 47,855,222–47,855,373, 152 basesExon 49: 47,857,156–47,857,299, 144 basesExon 48: 47,858,516–47,858,635, 120 basesExon 47: 47,858,849–47,858,986, 138 basesExon 46: 47,859,611–47,859,759, 149 basesExon 45: 47,860,899–47,860,971, 73 basesExon 44: 47,862,062–47,862,127, 66 basesExon 43: 47,862,373–47,862,541, 169 basesExon 42: 47,863,399–47,863,577, 179 basesExon 41: 47,864,556–47,864,763, 208 basesExon 40: 47,877,724–47,877,851, 128 basesExon 39: 47,879,491–47,879,658, 168 basesExon 38: 47,881,416–47,881,520, 105 basesExon 37: 47,881,912–47,882,097, 186 basesExon 36: 47,885,944–47,886,147, 204 basesExon 35: 47,887,547–47,887,705, 159 basesExon 34: 47,888,518–47,888,650, 133 basesExon 33: 47,889,014–47,889,222, 209 basesExon 32: 47,890,257–47,890,480, 224 basesExon 31: 47,893,139–47,893,387, 249 basesExon 30: 47,897,161–47,897,294, 134 basesExon 29: 47,898,470–47,898,569, 100 basesExon 28: 47,900,373–47,900,467, 95 basesExon 27: 47,902,569–47,902,795, 227 basesExon 26: 47,904,869–47,904,976, 108 basesExon 25: 47,912,410–47,912,562, 153 basesExon 24: 47,913,901–47,914,064, 164 basesExon 23: 47,915,328–47,915,418, 91 basesExon 22: 47,918,277–47,918,383, 107 basesExon 21: 47,927,194–47,927,353, 160 basesExon 20: 47,927,771–47,927,890, 120 basesExon 19: 47,929,092–47,929,178, 87 basesExon 18: 47,929,853–47,930,012, 160 basesExon 17: 47,930,672–47,930,787, 116 basesExon 16: 47,933,020–47,933,172, 153 basesExon 15: 47,933,965–47,934,090, 126 basesExon 14: 47,935,009–47,935,058, 50 basesExon 13: 47,935,732–47,935,900, 169 basesExon 12: 47,936,353–47,936,517, 165 basesExon 11: 47,939,551–47,939,697, 147 basesExon 10: 47,943,209–47,943,366, 158 basesExon 9: 47,943,853–47,943,883, 31 basesExon 8: 47,943,974–47,944,029, 56 basesExon 7: 47,953,620–47,953,719, 100 basesExon 6: 47,953,807–47,953,919, 113 basesExon 5: 47,954,338–47,954,446, 109 basesExon 4: 47,955,874–47,955,948, 75 basesExon 3: 47,957,171–47,957,263, 93 basesExon 2: 47,957,355–47,957,431, 77 basesExon 1: 47,959,973–47,960,136, 164 bases86807060504030201015′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 13.5 kb of the gene's 187 kb; 12,387 of those bases code for the protein.

How a genome test reads PRKDC

2

positions in PRKDC 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 187 kb of PRKDC, introns included, not only the 13.5 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.). PRKDC gene: protein kinase, DNA-activated, catalytic subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/prkdc

Vancouver

Dante Labs. PRKDC gene: protein kinase, DNA-activated, catalytic subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prkdc

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