LOCUS       NM_002067               4190 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens G protein subunit alpha 11 (GNA11), mRNA.
ACCESSION   NM_002067 NM_152294
VERSION     NM_002067.5
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 4190)
  AUTHORS   Knopfel,N., Zecchin,D., Richardson,H., Polubothu,S.,
            Barberan-Martin,S., Cullup,T., Gholam,K., Heales,S., Krywawych,S.,
            Lopez-Balboa,P., Muwanga-Nanyonjo,N., Ogunbiyi,O.,
            Puvirajasinghe,C., Solman,L., Swarbrick,K., Syed,S.B., Tahir,Z.,
            Tisdall,M.M., Allgrove,J., Chesover,A.D., Aylett,S.E.,
            Jacques,T.S., Hannan,F.M., Lobel,U., Semple,R.K., Thakker,R.V. and
            Kinsler,V.A.
  TITLE     GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium
            Indices and Microvascular Neurocalcification
  JOURNAL   J Invest Dermatol 144 (4), 820-832 (2024)
   PUBMED   37802294
  REMARK    GeneRIF: GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum
            Calcium Indices and Microvascular Neurocalcification.
REFERENCE   2  (bases 1 to 4190)
  AUTHORS   Nanba,K., Blinder,A.R., Udager,A.M., Hirokawa,Y., Miura,T.,
            Okuno,H., Moriyoshi,K., Yamazaki,Y., Sasano,H., Yasoda,A.,
            Satoh-Asahara,N., Rainey,W.E. and Tagami,T.
  TITLE     Double somatic mutations in CTNNB1 and GNA11 in an
            aldosterone-producing adenoma
  JOURNAL   Front Endocrinol (Lausanne) 15, 1286297 (2024)
   PUBMED   38505749
  REMARK    GeneRIF: Double somatic mutations in CTNNB1 and GNA11 in an
            aldosterone-producing adenoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4190)
  AUTHORS   Gestrich,C.K., Vivero,M.P., Konczyk,D.J., Goss,J.A., Labow,B.I.,
            Pearson,G.D., Cottrell,C.E., Mathew,M.T., Prasad,V.,
            Kozakewich,H.P., Fletcher,C.D.M., Greene,A.K. and Al-Ibraheemi,A.
  TITLE     Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations
  JOURNAL   Am J Surg Pathol 48 (1), 106-111 (2024)
   PUBMED   37750536
  REMARK    GeneRIF: Papillary Hemangioma Harbors Somatic GNA11 and GNAQ
            Mutations.
REFERENCE   4  (bases 1 to 4190)
  AUTHORS   Howles,S.A., Gorvin,C.M., Cranston,T., Rogers,A., Gluck,A.K.,
            Boon,H., Gibson,K., Rahman,M., Root,A., Nesbit,M.A., Hannan,F.M.
            and Thakker,R.V.
  TITLE     GNA11 Variants Identified in Patients with Hypercalcemia or
            Hypocalcemia
  JOURNAL   J Bone Miner Res 38 (6), 907-917 (2023)
   PUBMED   36970776
  REMARK    GeneRIF: GNA11 Variants Identified in Patients with Hypercalcemia
            or Hypocalcemia.
REFERENCE   5  (bases 1 to 4190)
  AUTHORS   Davies,O.M.T., Ng,A.T., Tran,J., Blumenthal,S., Arkin,L.M.,
            Nopper,A.J., Cottrell,C.E., Garzon,M., Siegel,D.H., Frieden,I.J.
            and Drolet,B.A.
  TITLE     Early-onset hypertension associated with extensive cutaneous
            capillary malformations harboring postzygotic variants in GNAQ and
            GNA11
  JOURNAL   Pediatr Dermatol 39 (6), 914-919 (2022)
   PUBMED   36440997
  REMARK    GeneRIF: Early-onset hypertension associated with extensive
            cutaneous capillary malformations harboring postzygotic variants in
            GNAQ and GNA11.
REFERENCE   6  (bases 1 to 4190)
  AUTHORS   Thomas,C.P., Dunn,M.J. and Mattera,R.
  TITLE     Ca2+ signalling in K562 human erythroleukaemia cells: effect of
            dimethyl sulphoxide and role of G-proteins in thrombin- and
            thromboxane A2-activated pathways
  JOURNAL   Biochem J 312 (Pt 1) (Pt 1), 151-158 (1995)
   PUBMED   7492305
REFERENCE   7  (bases 1 to 4190)
  AUTHORS   Tamburro,J., Traboulsi,E.I. and Patel,M.S.
  TITLE     Isolated and Classic Cutis Marmorata Telangiectatica Congenita
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   35679444
REFERENCE   8  (bases 1 to 4190)
  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 4190)
  AUTHORS   Wilkie,T.M., Gilbert,D.J., Olsen,A.S., Chen,X.N., Amatruda,T.T.,
            Korenberg,J.R., Trask,B.J., de Jong,P., Reed,R.R., Simon,M.I. et
            al.
  TITLE     Evolution of the mammalian G protein alpha subunit multigene family
  JOURNAL   Nat Genet 1 (2), 85-91 (1992)
   PUBMED   1302014
  REMARK    Review article
REFERENCE   10 (bases 1 to 4190)
  AUTHORS   Jiang,M., Pandey,S., Tran,V.T. and Fong,H.K.
  TITLE     Guanine nucleotide-binding regulatory proteins in retinal pigment
            epithelial cells
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3907-3911 (1991)
   PUBMED   1902575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005262.1, BC089041.1,
            HY118575.1 and KF456478.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002067.4.
            
            Summary: The protein encoded by this gene belongs to the family of
            guanine nucleotide-binding proteins (G proteins), which function as
            modulators or transducers in various transmembrane signaling
            systems. G proteins are composed of 3 units: alpha, beta and gamma.
            This gene encodes one of the alpha subunits (subunit alpha-11).
            Mutations in this gene have been associated with hypocalciuric
            hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2).
            Patients with HHC2 and HYPOC2 exhibit decreased or increased
            sensitivity, respectively, to changes in extracellular calcium
            concentrations. [provided by RefSeq, Dec 2013].
            
            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 :: ERR279833.10491.1,
                                           SRR1163658.278623.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000078429.9/ ENSP00000078429.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                AC005262.1         1034-1081
            49-1661             BC089041.1         1-1613
            1662-1669           HY118575.1         118-125
            1670-1989           KF456478.1         27-346
            1990-4190           AC005262.1         28471-30671
FEATURES             Location/Qualifiers
     source          1..4190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..4190
                     /gene="GNA11"
                     /gene_synonym="FBH; FBH2; FHH2; GNA-11; HG1K; HHC2;
                     HYPOC2"
                     /note="G protein subunit alpha 11"
                     /db_xref="GeneID:2767"
                     /db_xref="HGNC:HGNC:4379"
                     /db_xref="MIM:139313"
     exon            1..426
                     /gene="GNA11"
                     /gene_synonym="FBH; FBH2; FHH2; GNA-11; HG1K; HHC2;
                     HYPOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            427..611
                     /gene="GNA11"
                     /gene_synonym="FBH; FBH2; FHH2; GNA-11; HG1K; HHC2;
                     HYPOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            612..766
                     /gene="GNA11"
                     /gene_synonym="FBH; FBH2; FHH2; GNA-11; HG1K; HHC2;
                     HYPOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            767..895
                     /gene="GNA11"
                     /gene_synonym="FBH; FBH2; FHH2; GNA-11; HG1K; HHC2;
                     HYPOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            896..1025
                     /gene="GNA11"
                     /gene_synonym="FBH; FBH2; FHH2; GNA-11; HG1K; HHC2;
                     HYPOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1179
                     /gene="GNA11"
                     /gene_synonym="FBH; FBH2; FHH2; GNA-11; HG1K; HHC2;
                     HYPOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..4190
                     /gene="GNA11"
                     /gene_synonym="FBH; FBH2; FHH2; GNA-11; HG1K; HHC2;
                     HYPOC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4172..4177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNA11"
                     /gene_synonym="FBH; FBH2; FHH2; GNA-11; HG1K; HHC2;
                     HYPOC2"
                     /note="hexamer: AATAAA"
     polyA_site      4190
                     /gene="GNA11"
                     /gene_synonym="FBH; FBH2; FHH2; GNA-11; HG1K; HHC2;
                     HYPOC2"
                     /note="major polyA site"
ORIGIN      
        1 aggttgtccg gcgctgtcgc tcggttgcgg cggctgcggt tggcggtggc tgcggcggcg
       61 gcgcgggctg agtgcggccg cgcgggagtc cgcggctggc gcggcccgag cggggacccg
      121 gcggctcgcc aggcggcggc cgaggcgggg cgggccggcc cggggccgag ggccggtggc
      181 cgaggccgga gggccgcggc gggcggcggc cgaggcggct ccggccaggg ccgggccggg
      241 ggccgggggg cggcggcggg caggcggccg cgtcggccgg ggccgggacg atgactctgg
      301 agtccatgat ggcgtgttgc ctgagcgatg aggtgaagga gtccaagcgg atcaacgccg
      361 agatcgagaa gcagctgcgg cgggacaagc gcgacgcccg gcgcgagctc aagctgctgc
      421 tgctcggcac gggcgagagc gggaagagca cgttcatcaa gcagatgcgc atcatccacg
      481 gcgccggcta ctcggaggag gacaagcgcg gcttcaccaa gctcgtctac cagaacatct
      541 tcaccgccat gcaggccatg atccgggcca tggagacgct caagatcctc tacaagtacg
      601 agcagaacaa ggccaatgcg ctcctgatcc gggaggtgga cgtggagaag gtgaccacct
      661 tcgagcatca gtacgtcagt gccatcaaga ccctgtggga ggacccgggc atccaggaat
      721 gctacgaccg caggcgcgag taccagctct ccgactctgc caagtactac ctgaccgacg
      781 ttgaccgcat cgccaccttg ggctacctgc ccacccagca ggacgtgctg cgggtccgcg
      841 tgcccaccac cggcatcatc gagtaccctt tcgacctgga gaacatcatc ttccggatgg
      901 tggatgtggg gggccagcgg tcggagcgga ggaagtggat ccactgcttt gagaacgtga
      961 catccatcat gtttctcgtc gccctcagcg aatacgacca agtcctggtg gagtcggaca
     1021 acgagaaccg gatggaggag agcaaagccc tgttccggac catcatcacc tacccctggt
     1081 tccagaactc ctccgtcatc ctcttcctca acaagaagga cctgctggag gacaagatcc
     1141 tgtactcgca cctggtggac tacttccccg agttcgatgg tccccagcgg gacgcccagg
     1201 cggcgcggga gttcatcctg aagatgttcg tggacctgaa ccccgacagc gacaagatca
     1261 tctactcaca cttcacgtgt gccaccgaca cggagaacat ccgcttcgtg ttcgcggccg
     1321 tgaaggacac catcctgcag ctcaacctca aggagtacaa cctggtctga gcgcccaggc
     1381 ccagggagac gggatggaga cacggggcag gaccttcctt ccacggagcc tgcggctgcc
     1441 gggcgggtgg cgctgccgag tccgggccgg ggcctctgcc cgcgggagga gatttttttt
     1501 tttcatattt ttaacaaatg gtttttattt cacagttatc aggggatgta catctctccc
     1561 tccgtacact tcgcgcacct tctcaccttt tgtcaacggc aaaggcagcc tttttctggc
     1621 cttgacttat ggctcgcttt tttctaaaaa aaaaaaaaaa agaaagaaag aaaaaaagca
     1681 acgaaacata aaacacacaa gcgccccgtg cccccagtga ctctgggcct cacagagccc
     1741 ccgccagcca gcatggggcc ccgccctgca gccagtcacg cgcccccaca ccgcagcccc
     1801 ccgtggctgt ccttccaacc ccacgtgctt tttctttctc ctgcccgctt cttttcttca
     1861 tcacaaaagg cgtggagact cggagacgga cgtttttccc cttttttaag ttattgacgc
     1921 ccagcgcgcc tcgcctcttc acccatcaac gctgtgcttt gcccactgga ctcctgaaga
     1981 gggggtgggg ggctccctcg gtcgcccacc ctgggaagtg cctaaccttt tattttattt
     2041 tatttttttg aggaaaaaga acgcctgact cacaggttga agaaacaccc tgggccctct
     2101 ctcatggccg ggttccccgt ccctctgcag aggctgggaa gggtccccgg gctggagcca
     2161 cgggggcttc tctgggctgt gcctccgggg ccaacactgg ctgcttgggg ctgcccgggg
     2221 actccagagg gctgcacggc caccctgccc tggctagagc gcaccccacc ggagcccacg
     2281 tgggctgggc ggctggaggg atggtccccc ggtgacactg ggagaaaggc cacttggatg
     2341 ggggcgtttc tgttttgttc cgctttgtga tgtcaccaat ttggaaacag cgagggtggg
     2401 tggggacttt tacagaatat tctcaggtgt gtacccgaga ggcagagaga gggacgtggc
     2461 cggcagctct gtgcgtggcc ttgtcccaag cacttgcgcc cgcccccgag cgccgccccc
     2521 ggggagcggg aagccagcac tcgcactttg gccaggggcg cgtggaaggt ggtggcaggc
     2581 accggcctgg gcagcttcca ggcctggctg gccacgacca cggcccgagg gggagcccgc
     2641 caggccacgc cgcactgagc cacagccccg ggggccgcct cccggggccc cttgaggcac
     2701 tgaggcaccg agactggttc tccccgagag actcggaagg tggggaacga ggggactgtg
     2761 tttggggagg tggctttttc gtctgctgtt gactgaacac tacagcgccc tgtggttccg
     2821 ggcttcgcac agctgtccca gggatggatc gcctgtgctg ccttcgcccg ccgccacacc
     2881 gggaccctgc acggctgctt ctggcctcga cagatgacaa aagaaacagc cccaaaatac
     2941 gaccactcca accagcagtt cccgcctgcc tgcccgccac tgtcaggcct gccctggcct
     3001 cctcgtccgc agggctgtct gctggcttct gggggcagaa gagcggggag ccccgtggaa
     3061 gggtcagggg agaccaggtc agggcagcta catttctggt gatcagcccc atggggagac
     3121 ggggctggcg ggataccccc cccccggctt ccccacacca cttctgtctc acccggaagc
     3181 gtcctttttt tgtgccaggt gtctacctaa gagggttggt gccagaagcc ccccatggcg
     3241 agtgctgggg cccggcggtg ccctggggga gcagatgggg ccacccctgg cagggccgct
     3301 acaacctttt ccagcagcgg agccctctgg ggggcctgtg cttgtggcat ctctgagggc
     3361 ctagattgca caaggtgacc tggccgtggc ctgagggtgg agtcgcccag cacgcaggcc
     3421 ggggcgctgc ggggctaagt attaggcctt cccagggagg gggcgtgcca agcatcccag
     3481 agccgggctg ggaccgccaa aacgtcgtgg cctggatcct ctgggtctga gtgcctgatc
     3541 ccctgccccc caaaaaagca gaggtaggtg ttgcaggccc agggcagggg tgcctgcccc
     3601 aggagagtcc caggcagtgg ttctcgtgcc agtggcaccc aggggcaagg acagccaacc
     3661 cccacccttg ccacgtgtgg ggccacgtgg gcatgtgggg tgtgtgtttt taccttggtg
     3721 aatctcacct gccaacgatt tctcgtgagt gccgaccacc ttctccgacc atgttacgcc
     3781 cgggcggcag cagcccccgg ccactgcaaa cccatgccct gggtcccccg gctcccccag
     3841 ggaggcatcc ccgtgccaat gtcccccagt ggtggcagca gatcctgtgg ccggcctggc
     3901 ggacgggacc cagtgatact tgtatattac acagtcctga tttcagacaa tttcaacctt
     3961 aatctattta aaaaagaata ttctatacaa gctgttttta agccttttac catttgaaat
     4021 gcatgtgttg tgcgcgttgg ggatgggagg aggggctgag gagcggctca gtgtcacctc
     4081 ccacagccac cggccctgac ccttaatcca gacaccgatg gaagtcgact tttcatatct
     4141 ttctcctgaa atgaactctg ttttaaattg gaataaattt tgttcctaaa
//
