LOCUS       NM_004839               1949 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens homer scaffold protein 2 (HOMER2), transcript variant
            1, mRNA.
ACCESSION   NM_004839
VERSION     NM_004839.4
KEYWORDS    RefSeq; MANE Select.
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 1949)
  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 1949)
  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 1949)
  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 1949)
  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 1949)
  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 1949)
  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 1949)
  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 1949)
  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 1949)
  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 1949)
  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 BC012109.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004839.3.
            
            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 (1), also known as HOMER-2A, uses
            an alternate in-frame splice site in the central coding region,
            compared to variant 2, resulting in an isoform (1) that is shorter
            than 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##
            Transcript exon combination :: BC012109.1, ERR279868.2929.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000450735.7/ ENSP00000407634.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1949              BC012109.1         2-1950
FEATURES             Location/Qualifiers
     source          1..1949
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     gene            1..1949
                     /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..1217
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_004830.2"
                     /db_xref="CCDS:CCDS45336.1"
                     /db_xref="GeneID:9455"
                     /db_xref="HGNC:HGNC:17513"
                     /db_xref="MIM:604799"
                     /translation="MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNS
                     YRIISVDGAKVIINSTITPNMTFTKTSQKFGQWADSRANTVFGLGFSSEQQLTKFAEK
                     FQEVKEAAKIAKDKTQEKIETSSNHSQASSVNGTDDEKASHAGPANTHLKSENDKLKI
                     ALTQSAANVKKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLRNKI
                     DELEEQCSEINREKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYV
                     SEKLEAAERDNQNLEDKVRSLKTDIEESKYRQRHLKVELKSFLEVLDGKIDDLHDFRR
                     GLSKLGTDN"
     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..679
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            680..836
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            837..947
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1028
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1949
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1928..1933
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOMER2"
                     /gene_synonym="ACPD; CPD; DFNA68; HOMER-2; VESL-2"
                     /note="hexamer: AATAAA"
     polyA_site      1949
                     /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 aagcatccag tgtcaacggg acggacgatg
      601 aaaaggcctc tcacgccggt ccagccaaca cacacctgaa gtctgagaat gacaagctga
      661 agattgcctt gacgcagagc gcagccaacg tgaagaagtg ggagatcgag ctgcagaccc
      721 ttcgggagag caatgcacgg ctgaccacag cactgcagga gtcggcagcc agtgtggagc
      781 agtggaagag gcagttctcc atctgccgtg atgagaatga ccggctccgc aacaagattg
      841 atgagctgga agaacaatgc agtgagatca acagagagaa ggagaagaac acgcagctga
      901 agaggaggat cgaggagctg gaggcagagc tccgagaaaa ggagacagag ctgaaagatc
      961 tccgaaaaca aagtgaaatc atacctcagc tcatgtcaga gtgcgaatat gtctctgaga
     1021 agctagaggc ggcagagaga gacaatcaaa acctggaaga caaagtgcgt tccttaaaga
     1081 cagacattga ggagagcaaa taccgacagc gccacctgaa ggtggagttg aagagcttcc
     1141 tggaggtgct ggacgggaag attgacgacc tgcatgactt ccgccgaggg ctctccaagc
     1201 tgggcaccga taactagggc tggccgaggc ccaggccccg cccgtgagtc ccaagcgtgt
     1261 gtgcgagacc agatagctct aggacgttct tctgtgtgca ttgcttctgt aaatgcaggc
     1321 gcagtttgtc gtgtttccaa accagttgtg ccgtccactc actccttttc agaatagaaa
     1381 tctcctctcg cttctctggc cttgtgaggt tgtggacaac tggaagattc tgactcagga
     1441 atccagaact aggtctacct tcaacattta tgcagtcagg gcagggatgt ttatatcttt
     1501 cataagggct gttgcaacca tatgaactga aaaaacacgc attttgtaat ccaaatattg
     1561 atattcttta caccaagcca tcaggctcct tttatcaaat agcattcaga gtatttgaat
     1621 gtccaccaga caccagcccc ggggggcaca gagagaacaa cattcctctc tgtcaacatc
     1681 gagaggcttt aaaacaactg tttagtggaa actttctgag agatggaaaa caagcttctg
     1741 gtgggtgcat tttctggccc ggagttgcct gcatccacgc tactgccccc tgccccccgc
     1801 ccccccagtt tgtacggttg caacagtgtt ccttttcttg gttttaattt ctgagcagat
     1861 gattgtgctg tgggaacagc acacagtgag ggtgcctagc acaatgtctg gcacaaagta
     1921 ggtgcttaat aaatatttgt tcaattaaa
//
