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NUDCD2

Chr 5q34

NudC domain containing 2

Aliases:
DKFZp686E10109, NudCL2
MANE:
ENST00000302764.9
OMIM: 620136 ↗NCBI: 134492 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • transient ischemic attack

    0.20

  • Thromboembolism

    0.11

  • alcohol drinking

    0.10

  • poisoning

    0.08

  • ovarian dysfunction

    0.08

  • Precordial pain

    0.08

  • response to xenobiotic stimulus

    0.07

  • thyroid gland carcinoma

    0.07

  • device complication

    0.07

  • stroke disorder

    0.07

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

Protein function (UniProt)

NudC domain-containing protein 2

May regulate the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone

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.