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WDR26

Chr 1q42.11-q42.12

WD repeat domain 26

Aliases:
FLJ21016, GID7
MANE:
ENST00000414423.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Clefting

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Skraban-Deardorff syndrome

    0.81
  • neurodegenerative disease

    0.54
  • hereditary disease

    0.52
  • Intellectual disability

    0.50
  • gastritis

    0.26
  • type 2 diabetes mellitus

    0.23
  • spermatocele

    0.19
  • Prolonged QT interval

    0.14
  • neurofibromatosis type 1

    0.12
  • breast cancer

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

WD repeat-containing protein 26

G-beta-like protein involved in cell signal transduction (PubMed:15378603, PubMed:19446606, PubMed:22065575, PubMed:23625927, PubMed:26895380, PubMed:27098453). Acts as a negative regulator in MAPK signaling pathway (PubMed:15378603). Functions as a scaffolding protein to promote G beta:gamma-mediated PLCB2 plasma membrane translocation and subsequent activation in leukocytes (PubMed:22065575, PubMed:23625927). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Acts as a negative regulator of the canonical Wnt signaling pathway through preventing ubiquitination of beta-catenin CTNNB1 by the beta-catenin destruction complex, thus negatively regulating CTNNB1 degradation (PubMed:27098453). Serves as a scaffold to coordinate PI3K/AKT pathway-driven cell growth and migration (PubMed:26895380). Protects cells from oxidative stress-induced apoptosis via the down-regulation of AP-1 transcriptional activity as well as by inhibiting cytochrome c release from mitochondria (PubMed:19446606). Also protects cells by promoting hypoxia-mediated autophagy and mitophagy (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.