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2025-05-09 16:28:53, 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 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
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