HOMER2
entrez
9455
canonical
uniprot
Q9NSB8
canonical
ensembl
ENSG00000103942
resolver
ensp
ENSP00000305632
resolver
ensp
ENSP00000407634
resolver
ensp
ENSP00000525558
resolver
genesymbol
HOMER2
resolver
hgnc
HGNC:17513
resolver
uniprot
O95269
resolver
uniprot
O95349
resolver
uniprot
Q9NSB6
resolver
uniprot
Q9NSB7
resolver
uniprot
Q9UNT7
resolver
uniprot_entry
HOME2_HUMAN
resolver
uniprot_sec
O95269
resolver
uniprot_sec
O95349
resolver
uniprot_sec
Q9NSB6
resolver
uniprot_sec
Q9NSB7
resolver
uniprot_sec
Q9UNT7
resolver
amino_acid_sequence
MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADSRANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDEKASHAGPANTHLKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLRNKIDELEEQCSEINREKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRHLKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 68 (DFNA68) [MIM:616707]: 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. {ECO:0000269|PubMed:25816005}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:18218901, ECO:0000269|PubMed:25816005, ECO:0000269|PubMed:9808459}.
uniprot
proteins
mass_dalton
40627
uniprot
proteins
protein_family
Homer family
uniprot
proteins
pubmed
10653696
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18218901
uniprot
proteins
pubmed
25816005
uniprot
proteins
pubmed
9808458
uniprot
proteins
pubmed
9808459
uniprot
proteins
sequence_length
354
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25816005}. Cell membrane {ECO:0000250|UniProtKB:O88801}. Postsynaptic density. Synapse. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q9QWW1}. Note=Postsynaptic density of neuronal cells. The stabilization and clustering of the metabotropic glutamate receptors appears to be mediated by isoform 1 and isoform 2 at the cell surface.
uniprot
proteins