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Gene

MDC1

mediator of DNA damage checkpoint 1

Summary

Cytogenetic location
6p21.33
Coordinates
Chromosome 6: 30,699,807–30,717,281 (GRCh38)
Exons
15 exons across 17.5 kb
Protein
2,089 amino acids
Also known as
NFBD1, KIAA0170, Em:AB023051.5
MANE Select transcript
ENST00000376406.8NM_014641.3
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

No Genome Test report reads MDC1 yet. The test sequences your whole genome, so your data includes it all the same.

How MDC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where MDC1 sits. MDC1 and 33 genes near it on chromosome 6, from 30,208,544 to 31,208,543.Chromosome 66p21.33p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2730.4 Mb30.6 Mb30.8 Mb31 Mb31.2 MbTRIM26: 30,184,446–30,214,158, reverse strandTRIM26TRIM39: 30,325,880–30,344,265, forward strandTRIM39TRIM39-RPP21: 30,328,907–30,346,854, forward strandTRIM39-RPP21RPP21: 30,345,125–30,346,884, forward strandRPP21HLA-E: 30,489,495–30,494,205, forward strandHLA-EGNL1: 30,541,212–30,556,603, reverse strandGNL1PRR3: 30,556,704–30,563,723, forward strandPRR3ABCF1: 30,571,383–30,597,179, forward strandABCF1PPP1R10: 30,600,400–30,618,612, reverse strandPPP1R10MRPS18B: 30,617,759–30,626,398, forward strandATAT1: 30,626,837–30,646,835, forward strandATAT1C6orf136: 30,647,003–30,653,225, forward strandDHX16: 30,652,469–30,673,059, reverse strandDHX16PPP1R18: 30,676,389–30,687,895, reverse strandPPP1R18NRM: 30,688,047–30,691,420, reverse strandNRMMDC1: 30,699,807–30,717,281, reverse strandMDC1TUBB: 30,717,435–30,725,538, forward strandTUBBFLOT1: 30,727,709–30,743,075, reverse strandFLOT1IER3: 30,743,199–30,744,555, reverse strandIER3DDR1: 30,876,421–30,900,978, forward strandDDR1GTF2H4: 30,907,517–30,914,119, forward strandGTF2H4VARS2: 30,914,205–30,928,614, forward strandVARS2SFTA2: 30,931,353–30,955,636, reverse strandSFTA2SFTA2-AS1: 30,934,523–30,938,824, forward strandSFTA2-AS1MUCL3: 30,940,973–30,954,221, forward strandMUC21: 30,983,718–30,989,903, forward strandMUC21MUC22: 31,010,474–31,036,882, forward strandMUC22C6orf15: 31,111,223–31,112,582, reverse strandC6orf15PSORS1C1: 31,114,750–31,140,092, forward strandPSORS1C1CDSN: 31,115,087–31,120,446, reverse strandCDSNPSORS1C2: 31,137,534–31,139,721, reverse strandPSORS1C2CCHCR1: 31,142,439–31,158,238, reverse strandTCF19: 31,158,331–31,167,252, forward strandPOU5F1: 31,163,193–31,180,731, reverse strandPOU5F1Diagram of MDC1: 15 exons on the reverse strand of chromosome 6Exon 13: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 15: 30,699,807–30,700,632, 826 basesExon 14: 30,702,553–30,702,663, 111 basesExon 13: 30,702,752–30,702,877, 126 basesExon 12: 30,703,104–30,703,286, 183 basesExon 11: 30,703,418–30,703,537, 120 basesExon 10: 30,703,621–30,706,098, 2,478 basesExon 9: 30,707,384–30,707,454, 71 basesExon 8: 30,707,566–30,708,357, 792 basesExon 7: 30,711,412–30,711,504, 93 basesExon 6: 30,711,667–30,711,726, 60 basesExon 5: 30,711,874–30,713,354, 1,481 basesExon 4: 30,713,648–30,713,717, 70 basesExon 3: 30,713,803–30,714,183, 381 basesExon 2: 30,715,040–30,715,178, 139 basesExon 1: 30,717,245–30,717,281, 37 bases15141210864215′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 7 kb of the gene's 17.5 kb; 6,270 of those bases code for the protein.

Sequencing MDC1

3

positions in MDC1 where ClinVar classes a change as pathogenic or likely pathogenic

3 of them (100%) fall in regions short reads find hard.

  • MHC (3 sites)The major histocompatibility complex (HLA genes), highly polymorphic and poorly represented by a single reference.

A whole genome covers all 17.5 kb of MDC1, introns included, not only the 7 kb of exons.

External links

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.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MDC1 gene: mediator of DNA damage checkpoint 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mdc1

Vancouver

Dante Labs. MDC1 gene: mediator of DNA damage checkpoint 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mdc1

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