LOCUS       NM_002072               6882 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens G protein subunit alpha q (GNAQ), mRNA.
ACCESSION   NM_002072
VERSION     NM_002072.5
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 6882)
  AUTHORS   Zhu,P., Bi,X., Su,D., Li,X., Chen,Y., Song,Z., Zhao,L., Wang,Y.,
            Xu,S. and Wu,X.
  TITLE     Transcription repression of estrogen receptor alpha by
            ghrelin/Gq/11/YAP signaling in granulosa cells promotes polycystic
            ovary syndrome
  JOURNAL   Hum Cell 37 (6), 1663-1678 (2024)
   PUBMED   39225978
  REMARK    GeneRIF: Transcription repression of estrogen receptor alpha by
            ghrelin/Gq/11/YAP signaling in granulosa cells promotes polycystic
            ovary syndrome.
REFERENCE   2  (bases 1 to 6882)
  AUTHORS   Ham,D., Shihoya,W., Nureki,O., Inoue,A. and Chung,K.Y.
  TITLE     Molecular mechanism of the endothelin receptor type B interactions
            with Gs, Gi, and Gq
  JOURNAL   Structure 32 (10), 1632-1639 (2024)
   PUBMED   39043181
  REMARK    GeneRIF: Molecular mechanism of the endothelin receptor type B
            interactions with Gs, Gi, and Gq.
REFERENCE   3  (bases 1 to 6882)
  AUTHORS   Ren,J., Cui,Z., Jiang,C., Wang,L., Guan,Y., Ren,Y., Zhang,S.,
            Tu,T., Yu,J., Li,Y., Duan,W., Guan,J., Wang,K., Zhang,H., Xing,D.,
            Kahn,M.L., Zhang,H. and Hong,T.
  TITLE     GNA14 and GNAQ somatic mutations cause spinal and intracranial
            extra-axial cavernous hemangiomas
  JOURNAL   Am J Hum Genet 111 (7), 1370-1382 (2024)
   PUBMED   38917801
  REMARK    GeneRIF: GNA14 and GNAQ somatic mutations cause spinal and
            intracranial extra-axial cavernous hemangiomas.
REFERENCE   4  (bases 1 to 6882)
  AUTHORS   Langbroek,G.B., Stor,M.L.E., Janssen,V., de Haan,A.,
            Horbach,S.E.R., Graupera,M., van Noesel,C.J.M., van der
            Horst,C.M.A.M., Wolkerstorfer,A. and Huveneers,S.
  TITLE     Characterization of Patient-Derived GNAQ Mutated Endothelial Cells
            from Capillary Malformations
  JOURNAL   J Invest Dermatol 144 (6), 1378-1388 (2024)
   PUBMED   38013159
  REMARK    GeneRIF: Characterization of Patient-Derived GNAQ Mutated
            Endothelial Cells from Capillary Malformations.
REFERENCE   5  (bases 1 to 6882)
  AUTHORS   Falzone,M.E. and MacKinnon,R.
  TITLE     The mechanism of Galphaq regulation of PLCbeta3-catalyzed PIP2
            hydrolysis
  JOURNAL   Proc Natl Acad Sci U S A 120 (48), e2315011120 (2023)
   PUBMED   37991948
REFERENCE   6  (bases 1 to 6882)
  AUTHORS   Dong,Q., Shenker,A., Way,J., Haddad,B.R., Lin,K., Hughes,M.R.,
            McBride,O.W., Spiegel,A.M. and Battey,J.
  TITLE     Molecular cloning of human G alpha q cDNA and chromosomal
            localization of the G alpha q gene (GNAQ) and a processed
            pseudogene
  JOURNAL   Genomics 30 (3), 470-475 (1995)
   PUBMED   8825633
REFERENCE   7  (bases 1 to 6882)
  AUTHORS   Lesch,K.P. and Manji,H.K.
  TITLE     Signal-transducing G proteins and antidepressant drugs: evidence
            for modulation of alpha subunit gene expression in rat brain
  JOURNAL   Biol Psychiatry 32 (7), 549-579 (1992)
   PUBMED   1333286
REFERENCE   8  (bases 1 to 6882)
  AUTHORS   Berstein,G., Blank,J.L., Jhon,D.Y., Exton,J.H., Rhee,S.G. and
            Ross,E.M.
  TITLE     Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11,
            its physiologic regulator
  JOURNAL   Cell 70 (3), 411-418 (1992)
   PUBMED   1322796
REFERENCE   9  (bases 1 to 6882)
  AUTHORS   Shenker,A., Goldsmith,P., Unson,C.G. and Spiegel,A.M.
  TITLE     The G protein coupled to the thromboxane A2 receptor in human
            platelets is a member of the novel Gq family
  JOURNAL   J Biol Chem 266 (14), 9309-9313 (1991)
   PUBMED   1851174
REFERENCE   10 (bases 1 to 6882)
  AUTHORS   Banno,Y., Yada,Y. and Nozawa,Y.
  TITLE     Purification and characterization of membrane-bound phospholipase C
            specific for phosphoinositides from human platelets
  JOURNAL   J Biol Chem 263 (23), 11459-11465 (1988)
   PUBMED   2841328
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160278.24, BC067850.1 and
            AL355535.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002072.4.
            
            Summary: This locus encodes a guanine nucleotide-binding protein.
            The encoded protein, an alpha subunit in the Gq class, couples a
            seven-transmembrane domain receptor to activation of phospolipase
            C-beta. Mutations at this locus have been associated with problems
            in platelet activation and aggregation. A related pseudogene exists
            on chromosome 2.[provided by RefSeq, Nov 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: GQ891431.1, BC067850.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000286548.9/ ENSP00000286548.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-535               AL160278.24        167340-167874       c
            536-2606            BC067850.1         1-2071
            2607-6882           AL355535.14        130440-134715       c
FEATURES             Location/Qualifiers
     source          1..6882
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.2"
     gene            1..6882
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /note="G protein subunit alpha q"
                     /db_xref="GeneID:2776"
                     /db_xref="HGNC:HGNC:4390"
                     /db_xref="MIM:600998"
     exon            1..712
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /inference="alignment:Splign:2.1.0"
     exon            713..897
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1052
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1181
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1311
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1312..1465
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /inference="alignment:Splign:2.1.0"
     exon            1466..6882
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5673..5678
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /note="hexamer: ATTAAA"
     polyA_site      5694
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
     regulatory      6684..6689
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /note="hexamer: AATACA"
     polyA_site      6705
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /note="major polyA site"
     regulatory      6746..6751
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /note="hexamer: ATTAAA"
     polyA_site      6770
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
     regulatory      6799..6804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /note="hexamer: AATACA"
     polyA_site      6819
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
ORIGIN      
        1 gttgccgggc gggacgggaa ccgggtctgc gcgcgagccg ggcggtgggc gcggacaggg
       61 ccgagggcgc ccgggagccg tgtcaggcgg cggcgaggag cgggcgcgcc gggcgcgggg
      121 agccgtcggc ggccgctcgc tgcggggaca ccccggtgaa tgagctctcg ccgccaggcg
      181 cacggcgtag gggagcctcg caggcggcgg cggcggcggc ggctcggggg gcgaggcggg
      241 ccgcctgttc ccggggaagg aggcgcgggc gtctgagcga ggccgggcgc ggcggccttc
      301 tctcacgcgc cccccgagcc agcgcccgcc tcccgcgccc gcctctcttc tcccgtcggc
      361 ccagactatc cgctcccacc gcgcccccgg cccacctggt ggccccggcc ctggccgccg
      421 cccccgcggc ggttcccgga gctcgtcccg gacgcgcgcc cgggcggcgg gggctcggcg
      481 gccaccgctg cctcggggga gcgagggcgg gagggtgtgt gtgcgcgctg tgagcagggg
      541 gtgccggcgg ggctgcagcg gaggcacttt ggaagaatga ctctggagtc catcatggcg
      601 tgctgcctga gcgaggaggc caaggaagcc cggcggatca acgacgagat cgagcggcag
      661 ctccgcaggg acaagcggga cgcccgccgg gagctcaagc tgctgctgct cgggacagga
      721 gagagtggca agagtacgtt tatcaagcag atgagaatca tccatgggtc aggatactct
      781 gatgaagata aaaggggctt caccaagctg gtgtatcaga acatcttcac ggccatgcag
      841 gccatgatca gagccatgga cacactcaag atcccataca agtatgagca caataaggct
      901 catgcacaat tagttcgaga agttgatgtg gagaaggtgt ctgcttttga gaatccatat
      961 gtagatgcaa taaagagttt atggaatgat cctggaatcc aggaatgcta tgatagacga
     1021 cgagaatatc aattatctga ctctaccaaa tactatctta atgacttgga ccgcgtagct
     1081 gaccctgcct acctgcctac gcaacaagat gtgcttagag ttcgagtccc caccacaggg
     1141 atcatcgaat acccctttga cttacaaagt gtcattttca gaatggtcga tgtagggggc
     1201 caaaggtcag agagaagaaa atggatacac tgctttgaaa atgtcacctc tatcatgttt
     1261 ctagtagcgc ttagtgaata tgatcaagtt ctcgtggagt cagacaatga gaaccgaatg
     1321 gaggaaagca aggctctctt tagaacaatt atcacatacc cctggttcca gaactcctcg
     1381 gttattctgt tcttaaacaa gaaagatctt ctagaggaga aaatcatgta ttcccatcta
     1441 gtcgactact tcccagaata tgatggaccc cagagagatg cccaggcagc ccgagaattc
     1501 attctgaaga tgttcgtgga cctgaaccca gacagtgaca aaattatcta ctcccacttc
     1561 acgtgcgcca cagacaccga gaatatccgc tttgtctttg ctgccgtcaa ggacaccatc
     1621 ctccagttga acctgaagga gtacaatctg gtctaattgt gcctcctaga cacccgccct
     1681 gcccttccct ggtgggctat tgaagataca caagagggac tgtatttctg tggaaaacaa
     1741 tttgcataat actaatttat tgccgtcctg gactctgtgt gagcgtgtcc acagagtttg
     1801 tagtaaatat tatgatttta tttaaactat tcagaggaaa aacagaggat gctgaagtac
     1861 agtcccagca catttcctct ctatcttttt tttaggcaaa accttgtgac tcagtgtatt
     1921 ttaaattctc agtcatgcac tcacaaagat aagacttgtt tctttctgtc tctctctctt
     1981 tttcttttct atggagcaaa acaaagctga tttccctttt ttcttccccc gctaattcat
     2041 acctccctcc tgatgttttt cccaggttac aatggccttt atcctagttc cattcttggt
     2101 caagtttttc tctcaaatga tacagtcagg acacatcgtt cgatttaagc catcatcagc
     2161 ttaatttaag tttgtagttt ttgctgaagg attatatgta ttaatactta cggttttaaa
     2221 tgtgttgctt tggatacaca catagtttct tttttaatag aatatactgt cttgtctcac
     2281 tttggactgg gacagtggat gcccatctaa aagttaagtg tcatttcttt tagatgttta
     2341 ccttcagcca tagcttgatt gctcagagaa atatgcagaa ggcaggatca aagacacaca
     2401 ggagtccttt cttttgaaat gccacgtgcc attgtctttc ctcccttctt tgcttctttt
     2461 tcttaccctc tctttcaatt gcagatgcca aaaaagatgc caacagacac tacattaccc
     2521 taatggctgc tacccagaac ctttttatag gttgttctta atttttttgt tgttgttgtt
     2581 caagcttttc ctttcttttt tttcttggtg tttgggccac gattttaaaa tgacttttat
     2641 tatgggtatg tgttgccaaa gctggctttt tgtcaaataa aatgaatacg aacttaaaaa
     2701 ataaaagctg gtatcttaaa atgtaagaga gtaagactgt gaagcctaaa atgactggct
     2761 gagaatgaac cagaaatgcc atttgccaaa cagttgtaac tagaaatttg attctcacgg
     2821 tccattcttt tctttgtcct taagatgaca ttgttagtgt tcacgtccca tgttcagtgt
     2881 ccaaaccggc aatgtaaaaa gtatcctgtg tggtttaaca ggaaatctgt ttatgtctct
     2941 ttatttgaaa ccagttttac tctcagtggt tctttaagtt caatgaagtc tgccaggaac
     3001 attggttggt agtattattc cgacaccttt aatttccaaa atctgaagtt cctgctagtt
     3061 taccaccttc atgatcttct tgaactggta actgattagg ttgaacttat ggaagatttg
     3121 tggacttaac tcaaaagtaa cctctcagtg ttctatagaa catgtatttg tgtaactgaa
     3181 cctaccagga gaaatgtttg gaattctata tgtgcaattt ttcaacaaat gcaaaaaaaa
     3241 tacagcacat gtattgacaa gcttctgtca agcagcttga gttgaaattt gatttaagaa
     3301 aataaatcat gattgttcaa agctgctggg acgttagaat taggccatga tactggtctc
     3361 attttaacta cagtggtatt tggcactagt gtaaacttcc atataaatca ctcttttgga
     3421 acaacaaagg gggagggaga aaaatcacgg cctgttaaat gagtaccaaa gccgcccaac
     3481 agtaatgaga tgttctcatc cttgattctc ccagcctcaa acaacacagc ttactttttt
     3541 tttcccttgc tcagaaagta cctgtaattt aacaaacaga ctgcctgtag gtatagtgca
     3601 attacaaatg ctctaatcat tgtacataca tctctcttga tattgcagca tccatactgg
     3661 ctttgtaatc attaattttt tggcagattg aatgtgctgt attgatatgt atctatgtaa
     3721 ttgtattgta tgtctatagc taattcacgt tttgaataat gttattttat ttactttttt
     3781 aagagaggag aatgtaaatt tgtcagttta tttctgacta gggatatttt ctttccattt
     3841 agaaaagaag aaaaaaaaaa aaccttactg tcatacagag cggtactagc gtcgtgctgt
     3901 ataaaatcat ttgcacattc ctgagtagag gtatactgat tataagaccc aaaggtaatt
     3961 tcatagcaaa atacataaaa tcagtcggag cttttataca aacatggaaa ccaactttgt
     4021 agaacttttg ccatttgatc taggattgga atatgagctt ttatacaatt catattctta
     4081 tttggcaaat gcacagttta gtattacctc tctgatggcc tttactagaa aggcagtttt
     4141 agaagctatt gtgatccact aaggaaatgt tttaacagct agagaccact gcttgcctga
     4201 aagggcgttc ttaaatttgg tgcagcaaaa aaaaaaaaaa aaaaaaaaaa aattaaacaa
     4261 caacatttga aggcctacag tgtgtataga gaaaacctca tcacaagatc ataagtgtta
     4321 cagttttagg gaatcaagat attctattta atagagctat agtaaatgta gtcaattaaa
     4381 cctgatctca aagcttgaag aagctgagca aaacagggaa agattgttat atttgtcttt
     4441 atgaaattgg gatggaattt gctatgcaga attgaggttt gtggcttcgc tgttcctgta
     4501 gggtgcatga caagatccct tctcttgaga aaggaaaaaa ttgatcaccc tagcagcagt
     4561 gatgcataga aacctaattt tagccacacc agtcaatcga agctaaagga ttttcttttt
     4621 tgtttcttcg gggttttatt gaaggggcta ggggcgggac gggattcttt tcagttttgt
     4681 ataaaaacaa agtttactca tgctttatat tatattgtga ttgcaagcgt tataagcgtg
     4741 tgccactggc ctcctattgt tgatgcttag gtaatggagg cctgtggtga gttttatggt
     4801 gacttgggca tgtcttattc aaaaacaaaa acataaaaca cagaaacctt tcttcagcat
     4861 accaaggcaa gcagccattt catgactcac ttaacacatt gcagtgtacc agtttacaga
     4921 tgatttttcc ctttttgcgt gacatggcag ttctaacccc cagagaattc cttatttgta
     4981 aattggaagt ttctactatg ccttacagag cttaaattca gaagtttgtg cctcatatct
     5041 gaaacaaagg gaaataacac acccattcaa aagtaaataa atctcctaga agtttttgtt
     5101 tttaacattt ccatataaag agctctgttg aatgtcatga atagactgga aaaaaaaatt
     5161 ttaagaacct gcatatgttg tttactagca gatgacaact acaaaaggaa tctgaagaac
     5221 acgtaaaact tgtatttttt tttttttggt agattaacta gcaggcctat tttaaaaagg
     5281 taattcagct aaagggcaat ttactttttt gtacttcaga ctatcttgat tgtcaaagtg
     5341 tacgaactgt aattttaaaa tttatactgc cacatgattg taaattttag ttgtcttaag
     5401 ttaggaattg gtgaaaagct atttatgctg gatttgggtc aaaatgactt atttgcaaaa
     5461 aaataaataa tgggaagaaa gggctgtata atgaaatact gcaagactca catattggtt
     5521 ggaaatttcc ctcaaatcac ctaccgatta cccttgattt ccctttgttt tcagtttctc
     5581 aaaacgaatg aaatgaaata tagcagaatg ttaacccata taaaaataaa gtgtacccaa
     5641 atattgtaat gtatattgct gctcttcttc aaattaaata agggtttaaa accacttaat
     5701 tggtaatcaa catctcaatt gatacaaata aggtgtgctt ggtatacatt aatattttct
     5761 tccaaagata tatctttggt tagaaacaca aaaaaataaa actagtaata ttgtatgttt
     5821 atctatctct acatatttcc agcatatgta gcgttaatag atctgtcctg gtaactgtgt
     5881 ctttgggatt tcattttggt tccatcaaat taggaaaaga aatggcttag ttgtatatga
     5941 ttagctagag atttttggag ccagacacct gctgtttagt agataactta gtacagaccc
     6001 taaacttgtc atttgttttt ctcacagaat agccatttcc tgctgtcttc ccaatgatca
     6061 ctgccctttc aataacactc ttgcctctag aatcatatgt tcaaagtatg aatacacacc
     6121 tagcacatag taggtgctca aatattaatt tcctccttgc cttccttatc taccctgtgt
     6181 cctccatttc cccgtatgat tccaacccaa tatagcaaat gacatttaca tgttatgaaa
     6241 acatctattg ggtaaaatca gatcttggat aaagaaattc tgacttttat ataagctttt
     6301 ggtagacaga aaaaacagaa aggtattcgt tggtagaaca tttttaagtt caggaaagaa
     6361 agctggaata atactacgta actttgtcca ggttactttg actgaaacac gtttttggtg
     6421 gatttctttt cctcaaagaa ctctctaaat gcaactcctt gctggattcc tcacccatca
     6481 tcctgttgga aacccttact agacctatgt atttagggag ttttgtcaga aaacattttt
     6541 aacttgcagt atttaaaaga atatttactg ttcctaaaat gtcattcaaa tgcatgtact
     6601 gtctattgtt tggggatggg aactagtttt gcaaaaaaca cctaatgttg tataataatg
     6661 ccccaatgat cttgctggtt aaaaatacag tatttttggc cataattttg tactatagta
     6721 ttcttcattg ttgagttttg cttccattaa agttgcccga gcccctctca gaatgttttg
     6781 tattagtagg agtactgaaa tacatctttc cttccttaac acaccttgtg catattgcat
     6841 tttccaaaat aaacaagttt aatggtttca aaaaaaaaaa aa
//
