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Gene

WDR81

WD repeat domain 81

Summary

Cytogenetic location
17p13.3
Coordinates
Chromosome 17: 1,724,704–1,738,585 (GRCh38)
Exons
10 exons across 13.9 kb
Protein
1,941 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ33817, PPP1R166, CAMRQ2, SORF-2
MANE Select transcript
ENST00000409644.6NM_001163809.2
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

    • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

      • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

        One of 57 genes linked to it

        A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

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

        Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

    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 WDR81 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 17, with a bracket where WDR81 sits. WDR81 and 21 genes near it on chromosome 17, from 1,231,645 to 2,231,644.Chromosome 1717p13.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.31.4 Mb1.6 Mb1.8 Mb2 Mb2.2 MbBHLHA9: 1,270,444–1,271,815, forward strandBHLHA9TRARG1: 1,279,554–1,300,978, forward strandTRARG1YWHAE: 1,344,275–1,400,326, reverse strandYWHAECRK: 1,420,689–1,463,162, reverse strandCRKMYO1C: 1,464,186–1,492,707, reverse strandMYO1CINPP5K: 1,494,571–1,516,759, reverse strandINPP5KPITPNA: 1,517,718–1,562,861, reverse strandPITPNASLC43A2: 1,569,268–1,630,103, reverse strandSLC43A2SCARF1: 1,633,848–1,646,122, reverse strandSCARF1RILP: 1,646,138–1,650,083, reverse strandRILPPRPF8: 1,650,624–1,684,909, reverse strandPRPF8TLCD2: 1,688,598–1,710,639, reverse strandTLCD2WDR81: 1,724,704–1,738,585, forward strandWDR81SERPINF2: 1,742,069–1,755,271, forward strandSERPINF2SERPINF1: 1,761,958–1,777,627, forward strandSERPINF1SMYD4: 1,779,485–1,830,634, reverse strandSMYD4RPA1: 1,829,702–1,900,082, forward strandRPA1RTN4RL1: 1,934,677–2,025,355, reverse strandRTN4RL1DPH1: 2,030,136–2,043,898, forward strandDPH1OVCA2: 2,042,022–2,043,898, forward strandOVCA2HIC1: 2,054,154–2,063,241, forward strandHIC1SMG6: 2,059,839–2,303,934, reverse strandSMG6Diagram of WDR81: 10 exons on the forward strand of chromosome 17Exon 1: 12 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 1: 1,724,704–1,728,626, 3,923 basesExon 2: 1,730,380–1,730,487, 108 basesExon 3: 1,730,755–1,730,945, 191 basesExon 4: 1,731,068–1,731,258, 191 basesExon 5: 1,732,325–1,732,490, 166 basesExon 6: 1,732,666–1,732,831, 166 basesExon 7: 1,733,527–1,734,216, 690 basesExon 8: 1,735,572–1,735,717, 146 basesExon 9: 1,736,039–1,736,218, 180 basesExon 10: 1,737,365–1,738,585, 1,221 bases123456789105′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 13.9 kb; 5,826 of those bases code for the protein.

    How a genome test reads WDR81

    19

    positions in WDR81 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 13.9 kb of WDR81, introns included, not only the 7 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.). WDR81 gene: WD repeat domain 81. Retrieved 16 October 2026, from https://dantelabs.com/genes/wdr81

    Vancouver

    Dante Labs. WDR81 gene: WD repeat domain 81 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/wdr81

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