HOMER2 gene

homer scaffold protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal dominant 68

From UniProt:

Deafness, autosomal dominant, 68 (DFNA68): A form of non-syndromic sensorineural hearing loss with postlingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:616707]

Cytogenetic Location: 15q25.2, which is the long (q) arm of chromosome 15 at position 25.2

Molecular Location: base pairs 82,836,946 to 82,986,176 on chromosome 15 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 15q25.2, which is the long (q) arm of chromosome 15 at position 25.2
  • ACPD
  • CPD
  • DFNA68
  • HOMER-2
  • VESL-2