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KCTD15

Chr 19q13.11

potassium channel tetramerization domain containing 15

Aliases:
MGC25497
MANE:
ENST00000683859.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Paediatric disorders - additional genes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Abnormality of the skeletal system

    0.49
  • facial morphology

    0.34
  • smoking behavior

    0.31
  • type 2 diabetes mellitus

    0.28
  • cervical carcinoma

    0.25
  • skin aging

    0.19
  • frontonasal dysplasia

    0.19
  • tooth disorder

    0.16
  • response to radiation

    0.15
  • protozoa infectious disease

    0.15

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

Protein function (UniProt)

BTB/POZ domain-containing protein KCTD15

During embryonic development, it is involved in neural crest formation (By similarity). Inhibits AP2 transcriptional activity by interaction with its activation domain (PubMed:23382213)

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.