GGRNA Home | Help | Advanced search

2019-03-25 15:10:47, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_003586               2089 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.
ACCESSION   NM_003586
VERSION     NM_003586.2  GI:47078260
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 2089)
  AUTHORS   Yao,J., Gaffaney,J.D., Kwon,S.E. and Chapman,E.R.
  TITLE     Doc2 is a Ca2+ sensor required for asynchronous neurotransmitter
            release
  JOURNAL   Cell 147 (3), 666-677 (2011)
   PUBMED   22036572
  REMARK    GeneRIF: Study analyzed Doc2alpha and Doc2beta and found that Doc2
            responds to changes in [Ca2+], with markedly slower kinetics as
            compared to the cytosolic domain of syt I (syt), and operates on a
            timescale consistent with asynchronous neurotransmitter release.
REFERENCE   2  (bases 1 to 2089)
  AUTHORS   Shimada,M., Miyagawa,T., Kawashima,M., Tanaka,S., Honda,Y.,
            Honda,M. and Tokunaga,K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum. Genet. 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 2089)
  AUTHORS   Glessner,J.T., Reilly,M.P., Kim,C.E., Takahashi,N., Albano,A.,
            Hou,C., Bradfield,J.P., Zhang,H., Sleiman,P.M., Flory,J.H.,
            Imielinski,M., Frackelton,E.C., Chiavacci,R., Thomas,K.A.,
            Garris,M., Otieno,F.G., Davidson,M., Weiser,M., Reichenberg,A.,
            Davis,K.L., Friedman,J.I., Cappola,T.P., Margulies,K.B.,
            Rader,D.J., Grant,S.F., Buxbaum,J.D., Gur,R.E. and Hakonarson,H.
  TITLE     Strong synaptic transmission impact by copy number variations in
            schizophrenia
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 107 (23), 10584-10589 (2010)
   PUBMED   20489179
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   4  (bases 1 to 2089)
  AUTHORS   Guilmatre,A., Dubourg,C., Mosca,A.L., Legallic,S., Goldenberg,A.,
            Drouin-Garraud,V., Layet,V., Rosier,A., Briault,S.,
            Bonnet-Brilhault,F., Laumonnier,F., Odent,S., Le Vacon,G.,
            Joly-Helas,G., David,V., Bendavid,C., Pinoit,J.M., Henry,C.,
            Impallomeni,C., Germano,E., Tortorella,G., Di Rosa,G.,
            Barthelemy,C., Andres,C., Faivre,L., Frebourg,T., Saugier Veber,P.
            and Campion,D.
  TITLE     Recurrent rearrangements in synaptic and neurodevelopmental genes
            and shared biologic pathways in schizophrenia, autism, and mental
            retardation
  JOURNAL   Arch. Gen. Psychiatry 66 (9), 947-956 (2009)
   PUBMED   19736351
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Review article
REFERENCE   5  (bases 1 to 2089)
  AUTHORS   Kumar,R.A., Marshall,C.R., Badner,J.A., Babatz,T.D., Mukamel,Z.,
            Aldinger,K.A., Sudi,J., Brune,C.W., Goh,G., Karamohamed,S.,
            Sutcliffe,J.S., Cook,E.H., Geschwind,D.H., Dobyns,W.B.,
            Scherer,S.W. and Christian,S.L.
  TITLE     Association and mutation analyses of 16p11.2 autism candidate genes
  JOURNAL   PLoS ONE 4 (2), E4582 (2009)
   PUBMED   19242545
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2089)
  AUTHORS   Mochida,S., Orita,S., Sakaguchi,G., Sasaki,T. and Takai,Y.
  TITLE     Role of the Doc2 alpha-Munc13-1 interaction in the neurotransmitter
            release process
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 95 (19), 11418-11422 (1998)
   PUBMED   9736751
REFERENCE   7  (bases 1 to 2089)
  AUTHORS   Orita,S., Naito,A., Sakaguchi,G., Maeda,M., Igarashi,H., Sasaki,T.
            and Takai,Y.
  TITLE     Physical and functional interactions of Doc2 and Munc13 in
            Ca2+-dependent exocytotic machinery
  JOURNAL   J. Biol. Chem. 272 (26), 16081-16084 (1997)
   PUBMED   9195900
REFERENCE   8  (bases 1 to 2089)
  AUTHORS   Verhage,M., de Vries,K.J., Roshol,H., Burbach,J.P., Gispen,W.H. and
            Sudhof,T.C.
  TITLE     DOC2 proteins in rat brain: complementary distribution and proposed
            function as vesicular adapter proteins in early stages of secretion
  JOURNAL   Neuron 18 (3), 453-461 (1997)
   PUBMED   9115738
REFERENCE   9  (bases 1 to 2089)
  AUTHORS   Sakaguchi,G., Orita,S., Maeda,M., Igarashi,H. and Takai,Y.
  TITLE     Molecular cloning of an isoform of Doc2 having two C2-like domains
  JOURNAL   Biochem. Biophys. Res. Commun. 217 (3), 1053-1061 (1995)
   PUBMED   8554557
REFERENCE   10 (bases 1 to 2089)
  AUTHORS   Orita,S., Sasaki,T., Naito,A., Komuro,R., Ohtsuka,T., Maeda,M.,
            Suzuki,H., Igarashi,H. and Takai,Y.
  TITLE     Doc2: a novel brain protein having two repeated C2-like domains
  JOURNAL   Biochem. Biophys. Res. Commun. 206 (2), 439-448 (1995)
   PUBMED   7826360
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC055284.1.
            On May 7, 2004 this sequence version replaced gi:4503352.
            
            Summary: There are at least two protein isoforms of the Double C2
            protein,  namely alpha (DOC2A) and beta (DOC2B), which contain two
            C2-like domains.  DOC2A and DOC2B are encoded by different genes;
            these genes are at times confused with the unrelated DAB2 gene
            which was initially named DOC-2. DOC2A is mainly expressed in brain
            and is suggested to be involved in Ca(2+)-dependent
            neurotransmitter release. [provided by RefSeq, Jul 2008].
            
            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 :: BC055284.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025082, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2089
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2089
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /note="double C2-like domains, alpha"
                     /db_xref="GeneID:8448"
                     /db_xref="HGNC:2985"
                     /db_xref="MIM:604567"
     exon            1..178
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     exon            179..453
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     CDS             192..1394
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /note="doc2-alpha"
                     /codon_start=1
                     /product="double C2-like domain-containing protein alpha"
                     /protein_id="NP_003577.2"
                     /db_xref="GI:47078261"
                     /db_xref="CCDS:CCDS10666.1"
                     /db_xref="GeneID:8448"
                     /db_xref="HGNC:2985"
                     /db_xref="MIM:604567"
                     /translation="
MRGRRGDRMTINIQEHMAINVCPGPIRPIRQISDYFPRGPGPEGGGGGGGEAPAHLVPLALAPPAALLGATTPEDGAEVDSYDSDDATALGTLEFDLLYDRASCTLHCSILRAKGLKPMDFNGLADPYVKLHLLPGACKANKLKTKTQRNTLNPVWNEDLTYSGITDDDITHKVLRIAVCDEDKLSHNEFIGEIRVPLRRLKPSQKKHFNICLERQVPLASPSSMSAALRGISCYLKELEQAEQGQGLLEERGRILLSLSYSSRRRGLLVGILRCAHLAAMDVNGYSDPYVKTYLRPDVDKKSKHKTCVKKKTLNPEFNEEFFYEIELSTLATKTLEVTVWDYDIGKSNDFIGGVSLGPGARGEARKHWSDCLQQPDAALERWHTLTSELPPAAGALSSA
"
     misc_feature    192..458
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14183.5);
                     Region: Interaction with UNC13D and DYNLT1"
     misc_feature    459..830
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /note="C2 domain first repeat present in Rabphilin and
                     Double C2 domain; Region: C2A_Rabphilin_Doc2; cd04035"
                     /db_xref="CDD:176000"
     misc_feature    order(549..551,567..569,732..734,738..740,756..758)
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /note="Ca2+ binding site [ion binding]; other site"
                     /db_xref="CDD:176000"
     misc_feature    834..1391
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14183.5);
                     Region: Interaction with UNC13D"
     misc_feature    999..1349
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /note="C2 domain; Region: C2; cl14603"
                     /db_xref="CDD:212363"
     variation       333
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1140239"
     variation       402
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:4566183"
     exon            454..533
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     variation       466
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1140240"
     exon            534..608
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     exon            609..718
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     exon            719..845
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     variation       764..765
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:34789550"
     exon            846..905
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     exon            906..1069
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     exon            1070..1151
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     exon            1152..1248
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     exon            1249..2066
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /inference="alignment:Splign:1.39.8"
     variation       1318
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34246709"
     STS             1432..1615
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /standard_name="RH80757"
                     /db_xref="UniSTS:89750"
     STS             1786..1926
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /standard_name="RH99266"
                     /db_xref="UniSTS:92279"
     variation       1924
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12851"
     polyA_signal    2048..2053
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
     polyA_site      2066
                     /gene="DOC2A"
                     /gene_synonym="Doc2"
ORIGIN      
cgccgccgcgccggctgcatcctcgcctccacctcgctcaccccctcctccccgcactttctcggcgctccctccctctcggctcgcacagctcgactccgcgctctcctcgccggccgccgccgcccagcctgcgcccgccgtccccccagtgcctgggcacctgttggaggcagagccaggggtgctgcatgaggggccgcaggggcgatcgcatgaccatcaacatccaggagcacatggccatcaacgtgtgccccgggcccatccggcccatccgccagatctctgactacttcccccggggaccaggacctgaagggggcggcgggggcggcggggaggcccccgcccatctggtccccctggctctggccccccctgcagccctccttggggccaccacgcctgaggatggtgcggaggtggacagctatgactcggatgatgccaccgccctaggcacgctggagtttgaccttctctacgaccgggcctcctgcactctgcactgtagcatcctcagggccaagggcctcaagcccatggatttcaatggcctcgccgacccctacgtcaagctgcacttgctgcctggagcctgtaaggccaataagctaaaaacgaagactcagaggaacacactgaatcccgtgtggaatgaggacctgacttacagcgggatcacagatgacgacatcacgcacaaggtgctcaggatcgccgtctgtgatgaggacaagctgagtcacaatgagtttattggggagatccgcgtgcccctccgccgcctcaagccttcgcagaagaagcattttaacatctgcctcgagcgccaggtcccgctggcgtccccctcttccatgtcagcggcgctgaggggcatctcctgttatctgaaggagttggagcaggcggagcaggggcaggggctgctggaggagcgtggccgcatcctgctgagtctcagctacagctcgcggcgccggggactgctggtaggcatcttgcgctgcgcccatctggctgccatggacgtcaacggttactcggacccctacgtcaagacgtacctgaggcccgatgtggacaagaaatccaagcataagacgtgtgtgaagaagaagactctcaacccagaatttaacgaggagtttttctacgagatagagctctccactctggccaccaagaccctggaagtcaccgtctgggactatgacattggcaaatccaatgacttcattggtggcgtgtccctggggccaggtgcccgaggcgaggctcggaagcactggagtgactgcctgcagcagccggacgcagccctggagcgctggcacaccctgaccagtgagctgccccctgcggccggggctctgtcctcagcctgagtggacagcagtgtcccggcacaggcccatcgagccgggtccagtacccaaccttcgcacgagtgtgttgcacgtttacacagggtgggctgcccccaccctgcactacctatttttgtgagtctccgtgacccgggtctgtctgctcatgaggggctgcggagttctatattcacatatgcaaacctcctgcctgactcgctagtccctgcaaatatgcaaaccccccatcatctgcacacccgggcagtgctcagagcccggccccaggcccccgcgctcctcactcctgcctctccacgctgccccgtccctctcccccaacagggaggaggtcggattaggggaggttcagaggaggagaatgtctcaaaaaaaaaggacaaaaaacaaacccagagccactcctttaatacagaaacttcattgaaaaaacctagccctgtacagctgcccttttaaagaggtggccattgcagggtctctgcctccccagcaggtggcagatgctcccggccactcgtttaaataactgtcccctggagggggccggggtttgaaggcagggcccctgccaccctcctgggggacacccgtgcatgtttacgccttttctggttgtgtcagtggccggagcatggcagctgggcatcaataaacacctccgaggaaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:8448 -> Molecular function: GO:0005215 [transporter activity] evidence: IEA
            GeneID:8448 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:8448 -> Molecular function: GO:0005544 [calcium-dependent phospholipid binding] evidence: IEA
            GeneID:8448 -> Biological process: GO:0007268 [synaptic transmission] evidence: TAS
            GeneID:8448 -> Biological process: GO:0007399 [nervous system development] evidence: TAS
            GeneID:8448 -> Biological process: GO:0016079 [synaptic vesicle exocytosis] evidence: IEA
            GeneID:8448 -> Biological process: GO:0017158 [regulation of calcium ion-dependent exocytosis] evidence: IMP
            GeneID:8448 -> Cellular component: GO:0005764 [lysosome] evidence: IEA
            GeneID:8448 -> Cellular component: GO:0030054 [cell junction] evidence: IEA
            GeneID:8448 -> Cellular component: GO:0030672 [synaptic vesicle membrane] evidence: IEA
            GeneID:8448 -> Cellular component: GO:0043005 [neuron projection] evidence: IEA

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.