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HOXA11

Chr 7p15.2

homeobox A11

MANE:
ENST00000006015.4

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Inherited bleeding disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Bleeding and platelet disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Cytopenias and congenital anaemias

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Limb disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Skeletal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Radio-ulnar synostosis - amegakaryocytic thrombocytopenia

    0.60
  • radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

    0.39
  • endometrial endometrioid adenocarcinoma

    0.37
  • colorectal adenocarcinoma

    0.37
  • neurodegenerative disease

    0.35
  • Abnormality of the skeletal system

    0.32
  • non-small cell lung carcinoma

    0.31
  • hepatocellular carcinoma

    0.31
  • breast carcinoma

    0.30
  • glioma

    0.30

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

Protein function (UniProt)

Homeobox protein Hox-A11

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis

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.