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Gene

RAD50

RAD50 double strand break repair protein

Summary

Cytogenetic location
5q31.1
Coordinates
Chromosome 5: 132,556,977–132,646,349 (GRCh38)
Exons
25 exons across 89.4 kb
Protein
1,312 amino acids
Inheritance
Autosomal recessive
Also known as
hRad50, RAD50-2
MANE Select transcript
ENST00000378823.8NM_005732.4
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

  • DNA Repair Disease

    • Autosomal recessive

      A disease that has its basis in the disruption of DNA repair.

      • 2 GenCC submitters rate it definitive or strong

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 RAD50 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 RAD50 sits. RAD50 and 20 genes near it on chromosome 5, from 132,101,663 to 133,101,662.Chromosome 55q31.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3132.2 Mb132.4 Mb132.6 Mb132.8 Mb133 MbP4HA2: 132,190,094–132,295,315, reverse strandP4HA2PDLIM4: 132,257,640–132,273,712, forward strandPDLIM4SLC22A4: 132,293,737–132,344,206, forward strandSLC22A4SLC22A5: 132,369,493–132,395,615, forward strandSLC22A5: 132,410,832–132,646,079, forward strandIRF1: 132,440,440–132,508,719, reverse strandIRF1IL5: 132,541,444–132,556,838, reverse strandIL5RAD50: 132,556,977–132,646,349, forward strandRAD50IL13: 132,656,263–132,661,110, forward strandIL13IL4: 132,673,986–132,682,678, forward strandIL4KIF3A: 132,688,806–132,737,638, reverse strandKIF3ACCNI2: 132,747,319–132,765,178, forward strandCCNI2SEPTIN8: 132,750,138–132,807,241, reverse strandSEPTIN8SOWAHA: 132,813,302–132,816,786, forward strandSOWAHASHROOM1: 132,821,271–132,830,924, reverse strandSHROOM1GDF9: 132,861,181–132,866,884, reverse strandGDF9UQCRQ: 132,866,623–132,868,847, forward strandUQCRQLEAP2: 132,873,444–132,899,343, forward strandLEAP2AFF4: 132,875,395–132,963,931, reverse strandAFF4ZCCHC10: 132,996,985–133,026,604, reverse strandZCCHC10HSPA4: 133,051,942–133,106,449, forward strandHSPA4Diagram of RAD50: 25 exons on the forward strand of chromosome 5Exon 1: 3 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 5 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 10 known disease-causing sitesExon 14: 4 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 16: 1 known disease-causing siteExon 17: 6 known disease-causing sitesExon 18: 1 known disease-causing siteExon 19: 6 known disease-causing sitesExon 20: 5 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 22: 1 known disease-causing siteExon 23: 5 known disease-causing sitesExon 24: 3 known disease-causing sitesExon 25: 2 known disease-causing sitesExon 1: 132,556,977–132,557,453, 477 basesExon 2: 132,559,284–132,559,367, 84 basesExon 3: 132,575,777–132,575,928, 152 basesExon 4: 132,579,317–132,579,502, 186 basesExon 5: 132,579,862–132,580,066, 205 basesExon 6: 132,587,562–132,587,690, 129 basesExon 7: 132,587,924–132,588,089, 166 basesExon 8: 132,588,687–132,588,880, 194 basesExon 9: 132,589,631–132,589,837, 207 basesExon 10: 132,591,224–132,591,406, 183 basesExon 11: 132,591,877–132,592,034, 158 basesExon 12: 132,594,869–132,595,044, 176 basesExon 13: 132,595,573–132,595,810, 238 basesExon 14: 132,603,300–132,603,489, 190 basesExon 15: 132,603,920–132,604,046, 127 basesExon 16: 132,604,806–132,604,999, 194 basesExon 17: 132,608,615–132,608,725, 111 basesExon 18: 132,609,117–132,609,209, 93 basesExon 19: 132,609,283–132,609,396, 114 basesExon 20: 132,616,003–132,616,130, 128 basesExon 21: 132,618,070–132,618,294, 225 basesExon 22: 132,637,115–132,637,200, 86 basesExon 23: 132,638,081–132,638,223, 143 basesExon 24: 132,640,672–132,640,805, 134 basesExon 25: 132,642,178–132,646,349, 4,172 bases15101520255′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 8.3 kb of the gene's 89.4 kb; 3,939 of those bases code for the protein.

How a genome test reads RAD50

119

positions in RAD50 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 89.4 kb of RAD50, introns included, not only the 8.3 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.). RAD50 gene: RAD50 double strand break repair protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/rad50

Vancouver

Dante Labs. RAD50 gene: RAD50 double strand break repair protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rad50

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