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TIE1

Chr 1p34.2

tyrosine kinase with immunoglobulin like and EGF like domains 1

Aliases:
JTK14
MANE:
ENST00000372476.8
OMIM: 600222 ↗NCBI: 7075 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary lymphoedema

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • lymphatic malformation 11

    0.53

  • cardiovascular disorder

    0.20

  • neoplasm

    0.10

  • cervical carcinoma

    0.10

  • cervical cancer

    0.10

  • ovarian carcinoma

    0.09

  • ovarian cancer

    0.09

  • non-small cell lung carcinoma

    0.09

  • cancer

    0.08

  • nasopharyngeal carcinoma

    0.08

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

Protein function (UniProt)

Tyrosine-protein kinase receptor Tie-1

Transmembrane tyrosine-protein kinase that may modulate TEK/TIE2 activity and contribute to the regulation of angiogenesis

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.