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MPZL2

Chr 11q23.3

myelin protein zero like 2

Aliases:
EVA
MANE:
ENST00000278937.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.71
  • Non-syndromic genetic deafness

    0.38
  • nonsyndromic genetic hearing loss

    0.37
  • deafness

    0.36
  • hereditary disease

    0.34
  • Splenomegaly

    0.33
  • lung adenocarcinoma

    0.27
  • non-autoimmune hemolytic anemia

    0.26
  • lung cancer

    0.23
  • non-small cell lung carcinoma

    0.16

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

Protein function (UniProt)

Myelin protein zero-like protein 2

Mediates homophilic cell-cell adhesion

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.