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TBATA

Chr 10q22.1

thymus, brain and testes associated

Aliases:
FLJ32820, spatial
MANE:
ENST00000456372.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Familial Hirschsprung Disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • pyelonephritis

    0.25
  • Hirschsprung disease

    0.21
  • Aganglionic megacolon

    0.11
  • type 2 diabetes mellitus

    0.04
  • lymphoid neoplasm

    0.03
  • Abnormality of the skeletal system

    0.03
  • corneal neovascularization

    0.03
  • amyotrophic lateral sclerosis

    0.03
  • neuroendocrine neoplasm

    0.03
  • ovarian neoplasm

    0.03

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

Protein function (UniProt)

Protein TBATA

May play a role in spermatid differentiation. Modulates thymic stromal cell proliferation and thymus function

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.