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HIVEP2

Chr 6q24.2

HIVEP zinc finger 2

Aliases:
MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2
MANE:
ENST00000367603.8

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • intellectual disability, autosomal dominant 43

    0.74
  • Intellectual disability

    0.54
  • hereditary disease

    0.53
  • diabetes mellitus

    0.48
  • type 2 diabetes mellitus

    0.47
  • Angelman syndrome

    0.43
  • hypertensive disorder

    0.38
  • hypothyroidism

    0.38
  • autosomal dominant non-syndromic intellectual disability

    0.37
  • inflammation of heart layer

    0.34

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

Protein function (UniProt)

Transcription factor HIVEP2

This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T-cell activation

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.