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Gene

RECQL4

RecQ like helicase 4

Summary

Cytogenetic location
8q24.3
Coordinates
Chromosome 8: 144,511,288–144,517,833 (GRCh38)
Exons
21 exons across 6.5 kb
Protein
1,208 amino acids
Inheritance
Autosomal recessive
Also known as
RecQ4
MANE Select transcript
ENST00000617875.6NM_004260.4
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 reports relevant to this gene

  • Rothmund-Thomson Syndrome

    • Autosomal recessive

      A genodermatosis with poikiloderma, sparse hair, small stature, skeletal abnormalities and, in type 2 (RECQL4), an increased risk of osteosarcoma and skin cancer.

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

      Awareness of bone pain or swelling as possible signs of osteosarcoma, skin checks and sun protection; carriers have no expected health effects.

  • Syndromic Craniosynostosis

    • Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.

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

      Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.

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 RECQL4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 8, with a bracket where RECQL4 sits. RECQL4 and 46 genes near it on chromosome 8, from 144,014,561 to 145,014,560.Chromosome 88q24.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3144.2 Mb144.4 Mb144.6 Mb144.8 Mb145 MbPARP10: 143,977,151–144,019,930, reverse strandPARP10SPATC1: 144,012,275–144,047,114, forward strandSPATC1OPLAH: 144,051,265–144,064,091, reverse strandEXOSC4: 144,078,560–144,081,408, forward strand: 144,078,642–144,084,330, forward strandGPAA1: 144,082,337–144,093,149, forward strandCYC1: 144,095,039–144,097,525, forward strandSHARPIN: 144,097,513–144,108,124, reverse strandSHARPINMAF1: 144,103,112–144,107,618, forward strandMAF1WDR97: 144,107,726–144,118,328, forward strandWDR97HGH1: 144,137,774–144,140,851, forward strandHGH1MROH1: 144,147,975–144,262,470, forward strandMROH1BOP1: 144,262,045–144,291,453, reverse strandBOP1SCX: 144,266,446–144,268,481, forward strandSCXHSF1: 144,291,521–144,314,729, forward strandHSF1DGAT1: 144,314,584–144,326,916, reverse strandSCRT1: 144,330,565–144,336,503, reverse strandSLC52A2: 144,333,957–144,361,447, forward strandCATSPERQ: 144,352,219–144,354,954, reverse strandCATSPERQ: 144,353,228–144,355,609, reverse strandFBXL6: 144,355,427–144,359,376, reverse strandFBXL6ADCK5: 144,373,101–144,393,243, forward strandADCK5CPSF1: 144,393,229–144,409,864, reverse strandCPSF1SLC39A4: 144,409,742–144,416,894, reverse strandVPS28: 144,423,597–144,429,499, reverse strandVPS28TONSL: 144,428,763–144,444,488, reverse strandTONSLZFTRAF1: 144,447,345–144,462,908, reverse strandTMEM276-ZFTRAF1: 144,449,582–144,465,430, reverse strandTMEM276: 144,463,817–144,466,890, reverse strandKIFC2: 144,465,940–144,474,202, forward strandFOXH1: 144,473,412–144,475,873, reverse strandPPP1R16A: 144,475,989–144,502,126, forward strandGPT: 144,502,608–144,507,494, forward strandGPTSLC33A2: 144,508,263–144,511,317, forward strandSLC33A2RECQL4: 144,511,288–144,517,833, reverse strandRECQL4LRRC14: 144,517,957–144,526,244, forward strandLRRC14LRRC24: 144,522,385–144,527,608, reverse strandC8orf82: 144,525,733–144,529,132, reverse strandARHGAP39: 144,529,179–144,685,879, reverse strandZNF251: 144,720,515–144,756,417, reverse strandZNF251ZNF34: 144,770,441–144,788,684, reverse strandZNF34RPL8: 144,789,765–144,793,502, reverse strandRPL8ZNF517: 144,798,863–144,813,034, forward strandZNF517ZNF7: 144,826,894–144,848,546, forward strandZNF7COMMD5: 144,837,760–144,854,229, reverse strandCOMMD5ZNF250: 144,876,497–144,902,217, reverse strandZNF250ZNF16: 144,929,355–144,950,888, reverse strandZNF16Diagram of RECQL4: 21 exons on the reverse strand of chromosome 8Exon 21: 2 known disease-causing sitesExon 20: 9 known disease-causing sitesExon 19: 17 known disease-causing sitesExon 18: 19 known disease-causing sitesExon 17: 13 known disease-causing sitesExon 16: 10 known disease-causing sitesExon 15: 24 known disease-causing sitesExon 14: 27 known disease-causing sitesExon 13: 14 known disease-causing sitesExon 12: 10 known disease-causing sitesExon 11: 13 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 14 known disease-causing sitesExon 5: 59 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 10 known disease-causing sitesExon 21: 144,511,288–144,511,555, 268 basesExon 20: 144,511,681–144,511,789, 109 basesExon 19: 144,511,911–144,512,067, 157 basesExon 18: 144,512,144–144,512,324, 181 basesExon 17: 144,512,392–144,512,561, 170 basesExon 16: 144,512,642–144,512,771, 130 basesExon 15: 144,512,847–144,513,138, 292 basesExon 14: 144,513,218–144,513,480, 263 basesExon 13: 144,513,571–144,513,712, 142 basesExon 12: 144,513,928–144,514,107, 180 basesExon 11: 144,514,189–144,514,362, 174 basesExon 10: 144,514,442–144,514,525, 84 basesExon 9: 144,514,936–144,515,072, 137 basesExon 8: 144,515,150–144,515,242, 93 basesExon 7: 144,515,326–144,515,457, 132 basesExon 6: 144,515,764–144,515,890, 127 basesExon 5: 144,515,988–144,516,764, 777 basesExon 4: 144,517,050–144,517,190, 141 basesExon 3: 144,517,414–144,517,508, 95 basesExon 2: 144,517,602–144,517,635, 34 basesExon 1: 144,517,701–144,517,833, 133 bases2120191817161514131211109876543215′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 3.8 kb of the gene's 6.5 kb; 3,627 of those bases code for the protein.

How a genome test reads RECQL4

346

positions in RECQL4 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 6.5 kb of RECQL4, introns included, not only the 3.8 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.). RECQL4 gene: RecQ like helicase 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/recql4

Vancouver

Dante Labs. RECQL4 gene: RecQ like helicase 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/recql4

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