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BCL9L

Chr 11q23.3

BCL9 like

Aliases:
DLNB11, B9L, Bcl9-2
MANE:
ENST00000683865.1

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • colorectal adenocarcinoma

    0.57
  • colon adenocarcinoma

    0.40
  • superficial spreading melanoma

    0.37
  • skin basal cell carcinoma

    0.37
  • nodular malignant melanoma

    0.37
  • gastric carcinoma

    0.37
  • gastric intestinal type adenocarcinoma

    0.37
  • endometrial endometrioid adenocarcinoma

    0.37
  • cutaneous melanoma

    0.37
  • lymphoid neoplasm

    0.37

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

Protein function (UniProt)

B-cell CLL/lymphoma 9-like protein

Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1 (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.