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HOMER2

Chr 15q25.2

homer scaffold protein 2

Aliases:
CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2
MANE:
ENST00000450735.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Monogenic hearing loss

    MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Disease associations (Open Targets)

  • autosomal dominant nonsyndromic hearing loss

    0.60
  • deafness

    0.54
  • sarcoidosis

    0.24
  • ovarian dysfunction

    0.22
  • preeclampsia

    0.22
  • Non-syndromic genetic deafness

    0.20
  • hereditary disease

    0.19
  • nonsyndromic genetic hearing loss

    0.18
  • biliary tract disorder

    0.16
  • bipolar disorder

    0.11

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

Protein function (UniProt)

Homer protein homolog 2

Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses (PubMed:9808459). Required for normal hearing (PubMed:25816005). Negatively regulates T cell activation by inhibiting the calcineurin-NFAT pathway. Acts by competing with calcineurin/PPP3CA for NFAT protein binding, hence preventing NFAT activation by PPP3CA (PubMed:18218901)

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.