LOCUS       NM_199330               1982 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens homer scaffold protein 2 (HOMER2), transcript variant
            2, mRNA.
ACCESSION   NM_199330
VERSION     NM_199330.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1982)
  AUTHORS   Vache,C., Cubedo,N., Mansard,L., Sarniguet,J., Baux,D., Faugere,V.,
            Baudoin,C., Moclyn,M., Touraine,R., Lina-Granade,G., Cossee,M.,
            Bergougnoux,A., Kalatzis,V., Rossel,M. and Roux,A.F.
  TITLE     Identification and in vivo functional investigation of a HOMER2
            nonstop variant causing hearing loss
  JOURNAL   Eur J Hum Genet 31 (7), 834-840 (2023)
   PUBMED   37173411
  REMARK    GeneRIF: Identification and in vivo functional investigation of a
            HOMER2 nonstop variant causing hearing loss.
REFERENCE   2  (bases 1 to 1982)
  AUTHORS   Lachgar,M., Morin,M., Villamar,M., Del Castillo,I. and
            Moreno-Pelayo,M.A.
  TITLE     A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic
            Progressive DFNA68 Hearing Loss in a Spanish Family
  JOURNAL   Genes (Basel) 12 (3), 411 (2021)
   PUBMED   33809266
  REMARK    GeneRIF: A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic
            Progressive DFNA68 Hearing Loss in a Spanish Family.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1982)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1982)
  AUTHORS   Lu,X., Wang,Q., Gu,H., Zhang,X., Qi,Y. and Liu,Y.
  TITLE     Whole exome sequencing identified a second pathogenic variant in
            HOMER2 for autosomal dominant non-syndromic deafness
  JOURNAL   Clin Genet 94 (5), 419-428 (2018)
   PUBMED   30047143
  REMARK    GeneRIF: we have identified a distinct, novel insertion variant in
            HOMER2, which provides validating evidence that HOMER2 is indeed
            required for normal hearing. Its sequence alteration is responsible
            for late-onset, autosomal dominant, non-syndromic, SNHL in humans.
REFERENCE   5  (bases 1 to 1982)
  AUTHORS   Mhawech-Fauceglia,P., Walia,S., Yessaian,A., Machida,H., Matsuo,K.
            and Lawrenson,K.
  TITLE     Overexpression of HOMER2 predicts better outcome in low-grade
            endometrioid endometrial adenocarcinoma
  JOURNAL   Pathology 50 (5), 499-503 (2018)
   PUBMED   29891190
  REMARK    GeneRIF: that HOMER2 may be involved in tumourigenesis of
            endometrioid uterine tumours
REFERENCE   6  (bases 1 to 1982)
  AUTHORS   Shiraishi,Y., Mizutani,A., Mikoshiba,K. and Furuichi,T.
  TITLE     Coincidence in dendritic clustering and synaptic targeting of homer
            proteins and NMDA receptor complex proteins NR2B and PSD95 during
            development of cultured hippocampal neurons
  JOURNAL   Mol Cell Neurosci 22 (2), 188-201 (2003)
   PUBMED   12676529
REFERENCE   7  (bases 1 to 1982)
  AUTHORS   Kim,J.T., Park,S.H., Kim,S.K., Kwon,E.Y., Do,M.H. and Hwang,T.H.
  TITLE     Potential role of Homer-2a on cutaneous vascular anomaly
  JOURNAL   J Korean Med Sci 17 (5), 636-640 (2002)
   PUBMED   12378015
REFERENCE   8  (bases 1 to 1982)
  AUTHORS   Soloviev,M.M., Ciruela,F., Chan,W.Y. and McIlhinney,R.A.
  TITLE     Molecular characterisation of two structurally distinct groups of
            human homers, generated by extensive alternative splicing
  JOURNAL   J Mol Biol 295 (5), 1185-1200 (2000)
   PUBMED   10653696
REFERENCE   9  (bases 1 to 1982)
  AUTHORS   Tu,J.C., Xiao,B., Yuan,J.P., Lanahan,A.A., Leoffert,K., Li,M.,
            Linden,D.J. and Worley,P.F.
  TITLE     Homer binds a novel proline-rich motif and links group 1
            metabotropic glutamate receptors with IP3 receptors
  JOURNAL   Neuron 21 (4), 717-726 (1998)
   PUBMED   9808459
REFERENCE   10 (bases 1 to 1982)
  AUTHORS   Xiao,B., Tu,J.C., Petralia,R.S., Yuan,J.P., Doan,A., Breder,C.D.,
            Ruggiero,A., Lanahan,A.A., Wenthold,R.J. and Worley,P.F.
  TITLE     Homer regulates the association of group 1 metabotropic glutamate
            receptors with multivalent complexes of homer-related, synaptic
            proteins
  JOURNAL   Neuron 21 (4), 707-716 (1998)
   PUBMED   9808458
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI666912.1, Y19026.1 and
            CB321822.1.
            
            On May 31, 2019 this sequence version replaced NM_199330.2.
            
            Summary: 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].
            
            Transcript Variant: This variant (2), also known as HOMER-2B,
            represents the longer transcript and encodes the longer isoform
            (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-190               BI666912.1         10-199
            191-1934            Y19026.1           6-1749
            1935-1982           CB321822.1         24-71               c
FEATURES             Location/Qualifiers
     source          1..1982
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     gene            1..1982
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /note="homer scaffold protein 2"
                     /db_xref="GeneID:9455"
                     /db_xref="HGNC:HGNC:17513"
                     /db_xref="MIM:604799"
     exon            1..190
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             186..1250
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     cupidin; homer, neuronal immediate early gene, 2; homer
                     protein homolog 2; homer scaffolding protein 2; homer
                     homolog 3; homer homolog 2"
                     /codon_start=1
                     /product="homer protein homolog 2 isoform 2"
                     /protein_id="NP_955362.1"
                     /db_xref="CCDS:CCDS45334.1"
                     /db_xref="GeneID:9455"
                     /db_xref="HGNC:HGNC:17513"
                     /db_xref="MIM:604799"
                     /translation="MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNS
                     YRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADSRANTVFGLGFSSEQQLTKFAEK
                     FQEVKEAAKIAKDKTQEKIETSSNHSQESGRETPSSTQASSVNGTDDEKASHAGPANT
                     HLKSENDKLKIALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSIC
                     RDENDRLRNKIDELEEQCSEINREKEKNTQLKRRIEELEAELREKETELKDLRKQSEI
                     IPQLMSECEYVSEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRHLKVELKSFLEVLD
                     GKIDDLHDFRRGLSKLGTDN"
     exon            191..347
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            348..479
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            480..572
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            573..712
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            713..869
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            870..980
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1061
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1982
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1961..1966
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /note="hexamer: AATAAA"
     polyA_site      1982
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /note="major polyA site"
ORIGIN      
        1 gcgcctggcg gcggtggcgg cagtggcagc agtggcagcc gcgcagcccc gcggaatgga
       61 gcggcgccgg ggctgagccg ggcgcgcacg ggccgccgca tgtgccgcgc ggggagcggc
      121 tgccgagcgg gcggagagcg agcgcgagag gccccgtcgg agcggccgcc ggagcagcgc
      181 cggagatggg agaacagccc atcttcacca cccgagcgca tgtcttccag attgacccca
      241 acaccaagaa gaactggatg cctgcgagca agcaggcggt caccgtttcc tacttctatg
      301 atgtcacaag gaacagctat cggatcatca gtgtggacgg agccaaggtg atcataaaca
      361 gcacaatcac accgaatatg accttcacca aaacgtcaca gaagtttggg cagtgggccg
      421 acagcagagc caacacagtg tttggtttgg ggttttcctc tgagcagcag ctgacaaagt
      481 ttgcagagaa attccaggag gtgaaagaag ctgccaagat agccaaagac aagacgcagg
      541 agaaaatcga gacctcaagt aatcattccc aagaatctgg gcgtgaaacc ccatcttcta
      601 ctcaggcatc cagtgtcaac gggacggacg atgaaaaggc ctctcacgcc ggtccagcca
      661 acacacacct gaagtctgag aatgacaagc tgaagattgc cttgacgcag agcgcagcca
      721 acgtgaagaa gtgggagatc gagctgcaga cccttcggga gagcaatgca cggctgacca
      781 cagcactgca ggagtcggca gccagtgtgg agcagtggaa gaggcagttc tccatctgcc
      841 gtgatgagaa tgaccggctc cgcaacaaga ttgatgagct ggaagaacaa tgcagtgaga
      901 tcaacagaga gaaggagaag aacacgcagc tgaagaggag gatcgaggag ctggaggcag
      961 agctccgaga aaaggagaca gagctgaaag atctccgaaa acaaagtgaa atcatacctc
     1021 agctcatgtc agagtgcgaa tatgtctctg agaagctaga ggcggcagag agagacaatc
     1081 aaaacctgga agacaaagtg cgttccttaa agacagacat tgaggagagc aaataccgac
     1141 agcgccacct gaaggtggag ttgaagagct tcctggaggt gctggacggg aagattgacg
     1201 acctgcatga cttccgccga gggctctcca agctgggcac cgataactag ggctggccga
     1261 ggcccaggcc ccgcccgtga gtcccaagcg tgtgtgcgag accagatagc tctaggacgt
     1321 tcttctgtgt gcattgcttc tgtaaatgca ggcgcagttt gtcgtgtttc caaaccagtt
     1381 gtgccgtcca ctcactcctt ttcagaatag aaatctcctc tcgcttctct ggccttgtga
     1441 ggttgtggac aactggaaga ttctgactca ggaatccaga actaggtcta ccttcaacat
     1501 ttatgcagtc agggcaggga tgtttatatc tttcataagg gctgttgcaa ccatatgaac
     1561 tgaaaaaaca cgcattttgt aatccaaata ttgatattct ttacaccaag ccatcaggct
     1621 ccttttatca aatagcattc agagtatttg aatgtccacc agacaccagc cccggggggc
     1681 acagagagaa caacattcct ctctgtcaac atcgagaggc tttaaaacaa ctgtttagtg
     1741 gaaactttct gagagatgga aaacaagctt ctggtgggtg cattttctgg cccggagttg
     1801 cctgcatcca cgctactgcc ccctgccccc cgccccccca gtttgtacgg ttgcaacagt
     1861 gttccttttc ttggttttaa tttctgagca gatgattgtg ctgtgggaac agcacacagt
     1921 gagggtgcct agcacaatgt ctggcacaaa gtaggtgctt aataaatatt tgttcaatta
     1981 aa
//
