LOCUS NP_060424 1296 aa linear PRI 18-NOV-2024
DEFINITION calcium-dependent secretion activator 2 isoform a [Homo sapiens].
ACCESSION NP_060424
VERSION NP_060424.9
DBSOURCE REFSEQ: accession NM_017954.11
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 (residues 1 to 1296)
AUTHORS Andersen,J.S., Vijayakumaran,A., Godbehere,C., Lorentzen,E.,
Mennella,V. and Schou,K.B.
TITLE Uncovering structural themes across cilia microtubule inner
proteins with implications for human cilia function
JOURNAL Nat Commun 15 (1), 2687 (2024)
PUBMED 38538594
REMARK Publication Status: Online-Only
REFERENCE 2 (residues 1 to 1296)
AUTHORS Yoo,H., Yang,S.H., Kim,J.Y., Yang,E., Park,H.S., Lee,S.J.,
Rhyu,I.J., Turecki,G., Lee,H.W. and Kim,H.
TITLE Down-regulation of habenular calcium-dependent secretion activator
2 induces despair-like behavior
JOURNAL Sci Rep 11 (1), 3700 (2021)
PUBMED 33580180
REMARK GeneRIF: Down-regulation of habenular calcium-dependent secretion
activator 2 induces despair-like behavior.
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 1296)
AUTHORS Zhang,K., Fan,Z., Wang,Y., Faraone,S.V., Yang,L. and Chang,S.
TITLE Genetic analysis for cognitive flexibility in the trail-making test
in attention deficit hyperactivity disorder patients from single
nucleotide polymorphism, gene to pathway level
JOURNAL World J Biol Psychiatry 20 (6), 476-485 (2019)
PUBMED 28971736
REMARK GeneRIF: The top SNP rs2049161 involved gene DLGAP1 and the top
gene CADPS2 in the gene-based analysis resulted in much literature
evidence of associations with psychiatric disorders. Gene
expression and network analysis showed their contribution to
cognition function.
REFERENCE 4 (residues 1 to 1296)
AUTHORS Obergasteiger,J., Uberbacher,C., Pramstaller,P.P., Hicks,A.A.,
Corti,C. and Volta,M.
TITLE CADPS2 gene expression is oppositely regulated by LRRK2 and
alpha-synuclein
JOURNAL Biochem Biophys Res Commun 490 (3), 876-881 (2017)
PUBMED 28647363
REMARK GeneRIF: These results indicate that LRRK2 and alpha-synuclein
participate in the dysregulation of CADPS2 by altering
transcription and support the hypothesis that synaptic
dysfunctions, through different mechanisms, might contribute to the
neuronal defects of diseases such as Parkinson's disease.
REFERENCE 5 (residues 1 to 1296)
AUTHORS Perry,J.R., Day,F., Elks,C.E., Sulem,P., Thompson,D.J.,
Ferreira,T., He,C., Chasman,D.I., Esko,T., Thorleifsson,G.,
Albrecht,E., Ang,W.Q., Corre,T., Cousminer,D.L., Feenstra,B.,
Franceschini,N., Ganna,A., Johnson,A.D., Kjellqvist,S.,
Lunetta,K.L., McMahon,G., Nolte,I.M., Paternoster,L., Porcu,E.,
Smith,A.V., Stolk,L., Teumer,A., Tsernikova,N., Tikkanen,E.,
Ulivi,S., Wagner,E.K., Amin,N., Bierut,L.J., Byrne,E.M.,
Hottenga,J.J., Koller,D.L., Mangino,M., Pers,T.H.,
Yerges-Armstrong,L.M., Zhao,J.H., Andrulis,I.L., Anton-Culver,H.,
Atsma,F., Bandinelli,S., Beckmann,M.W., Benitez,J., Blomqvist,C.,
Bojesen,S.E., Bolla,M.K., Bonanni,B., Brauch,H., Brenner,H.,
Buring,J.E., Chang-Claude,J., Chanock,S., Chen,J.,
Chenevix-Trench,G., Collee,J.M., Couch,F.J., Couper,D.,
Coveillo,A.D., Cox,A., Czene,K., D'adamo,A.P., Smith,G.D., De
Vivo,I., Demerath,E.W., Dennis,J., Devilee,P., Dieffenbach,A.K.,
Dunning,A.M., Eiriksdottir,G., Eriksson,J.G., Fasching,P.A.,
Ferrucci,L., Flesch-Janys,D., Flyger,H., Foroud,T., Franke,L.,
Garcia,M.E., Garcia-Closas,M., Geller,F., de Geus,E.E., Giles,G.G.,
Gudbjartsson,D.F., Gudnason,V., Guenel,P., Guo,S., Hall,P.,
Hamann,U., Haring,R., Hartman,C.A., Heath,A.C., Hofman,A.,
Hooning,M.J., Hopper,J.L., Hu,F.B., Hunter,D.J., Karasik,D.,
Kiel,D.P., Knight,J.A., Kosma,V.M., Kutalik,Z., Lai,S.,
Lambrechts,D., Lindblom,A., Magi,R., Magnusson,P.K., Mannermaa,A.,
Martin,N.G., Masson,G., McArdle,P.F., McArdle,W.L., Melbye,M.,
Michailidou,K., Mihailov,E., Milani,L., Milne,R.L., Nevanlinna,H.,
Neven,P., Nohr,E.A., Oldehinkel,A.J., Oostra,B.A., Palotie,A.,
Peacock,M., Pedersen,N.L., Peterlongo,P., Peto,J., Pharoah,P.D.,
Postma,D.S., Pouta,A., Pylkas,K., Radice,P., Ring,S.,
Rivadeneira,F., Robino,A., Rose,L.M., Rudolph,A., Salomaa,V.,
Sanna,S., Schlessinger,D., Schmidt,M.K., Southey,M.C., Sovio,U.,
Stampfer,M.J., Stockl,D., Storniolo,A.M., Timpson,N.J., Tyrer,J.,
Visser,J.A., Vollenweider,P., Volzke,H., Waeber,G.,
Waldenberger,M., Wallaschofski,H., Wang,Q., Willemsen,G.,
Winqvist,R., Wolffenbuttel,B.H., Wright,M.J., Boomsma,D.I.,
Econs,M.J., Khaw,K.T., Loos,R.J., McCarthy,M.I., Montgomery,G.W.,
Rice,J.P., Streeten,E.A., Thorsteinsdottir,U., van Duijn,C.M.,
Alizadeh,B.Z., Bergmann,S., Boerwinkle,E., Boyd,H.A., Crisponi,L.,
Gasparini,P., Gieger,C., Harris,T.B., Ingelsson,E., Jarvelin,M.R.,
Kraft,P., Lawlor,D., Metspalu,A., Pennell,C.E., Ridker,P.M.,
Snieder,H., Sorensen,T.I., Spector,T.D., Strachan,D.P.,
Uitterlinden,A.G., Wareham,N.J., Widen,E., Zygmunt,M., Murray,A.,
Easton,D.F., Stefansson,K., Murabito,J.M. and Ong,K.K.
CONSRTM Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
Consortium
TITLE Parent-of-origin-specific allelic associations among 106 genomic
loci for age at menarche
JOURNAL Nature 514 (7520), 92-97 (2014)
PUBMED 25231870
REFERENCE 6 (residues 1 to 1296)
AUTHORS Brunk,I., Blex,C., Speidel,D., Brose,N. and Ahnert-Hilger,G.
TITLE Ca2+-dependent activator proteins of secretion promote vesicular
monoamine uptake
JOURNAL J Biol Chem 284 (2), 1050-1056 (2009)
PUBMED 19008227
REMARK GeneRIF: CAPS proteins are involved in optimizing vesicular
monoamine uptake and storage mediated by VMAT1 and VMAT2
REFERENCE 7 (residues 1 to 1296)
AUTHORS Sadakata,T., Washida,M., Iwayama,Y., Shoji,S., Sato,Y., Ohkura,T.,
Katoh-Semba,R., Nakajima,M., Sekine,Y., Tanaka,M., Nakamura,K.,
Iwata,Y., Tsuchiya,K.J., Mori,N., Detera-Wadleigh,S.D.,
Ichikawa,H., Itohara,S., Yoshikawa,T. and Furuichi,T.
TITLE Autistic-like phenotypes in Cadps2-knockout mice and aberrant
CADPS2 splicing in autistic patients
JOURNAL J Clin Invest 117 (4), 931-943 (2007)
PUBMED 17380209
REMARK GeneRIF: Genetic disturbance in CADPS2-mediated neurotrophin
release contributes to autism susceptibility.
GeneRIF: CADPS2-KO mice show autistic-like phenotypes. Moreover,
the results show that some autistic patients have an aberrant
splicing variant of CADPS2 mRNA, suggesting that a disturbance in
CADPS2-mediated neurotrophin release contributes to autism.
GeneRIF: Results from Cadps2-deficient mice and human data suggest
that a disturbance in CADPS2-mediated neurotrophin release
contributes to autistic-like cellular and behavioral phenotypes.
REFERENCE 8 (residues 1 to 1296)
AUTHORS Kim,J.M., Lee,K.H., Jeon,Y.J., Oh,J.H., Jeong,S.Y., Song,I.S.,
Kim,J.M., Lee,D.S. and Kim,N.S.
TITLE Identification of genes related to Parkinson's disease using
expressed sequence tags
JOURNAL DNA Res 13 (6), 275-286 (2006)
PUBMED 17213182
REFERENCE 9 (residues 1 to 1296)
AUTHORS Speidel,D., Varoqueaux,F., Enk,C., Nojiri,M., Grishanin,R.N.,
Martin,T.F., Hofmann,K., Brose,N. and Reim,K.
TITLE A family of Ca2+-dependent activator proteins for secretion:
comparative analysis of structure, expression, localization, and
function
JOURNAL J Biol Chem 278 (52), 52802-52809 (2003)
PUBMED 14530279
REMARK GeneRIF: identification, cloning, and comparative characterization
of a second mammalian CAPS isoform, CAPS2; concluded that at the
functional level, CAPS2 is largely redundant with CAPS1
REFERENCE 10 (residues 1 to 1296)
AUTHORS Cisternas,F.A., Vincent,J.B., Scherer,S.W. and Ray,P.N.
TITLE Cloning and characterization of human CADPS and CADPS2, new members
of the Ca2+-dependent activator for secretion protein family
JOURNAL Genomics 81 (3), 279-291 (2003)
PUBMED 12659812
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA248542.1, BC144278.1,
AY264289.1, AB046811.1, AC015983.7 and BX110721.1.
This sequence is a reference standard in the RefSeqGene project.
On Jun 15, 2007 this sequence version replaced NP_060424.8.
Summary: This gene encodes a member of the calcium-dependent
activator of secretion (CAPS) protein family, which are calcium
binding proteins that regulate the exocytosis of synaptic and
dense-core vesicles in neurons and neuroendocrine cells. Mutations
in this gene may contribute to autism susceptibility. Multiple
transcript variants encoding different isoforms have been found for
this gene. [provided by RefSeq, Nov 2009].
Transcript Variant: This variant (1) lacks an alternate in-frame
exon and includes an alternate in-frame exon, compared to variant
3. The resulting isoform (a) differs in two regions and is shorter
compared to isoform c.
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 :: SRR1660803.78709.1,
SRR1803613.238732.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000449022.7/ ENSP00000398481.2
RefSeq Select criteria :: based on conservation
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..1296
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q31.32"
Protein 1..1296
/product="calcium-dependent secretion activator 2 isoform
a"
/note="Ca2+-dependent activator protein for secretion 2;
Ca2+ dependent secretion activator 2; CAPS-2;
calcium-dependent activator protein for secretion 2;
Ca++-dependent secretion activator 2"
/calculated_mol_wt=147604
Region 1..78
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q86UW7.2)"
Site 56
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:21406692; propagated from
UniProtKB/Swiss-Prot (Q86UW7.2)"
Site 58
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:21406692; propagated from
UniProtKB/Swiss-Prot (Q86UW7.2)"
Region 366..448
/region_name="C2"
/note="Protein kinase C conserved region 2 (CalB);
smart00239"
/db_xref="CDD:214577"
Region 481..600
/region_name="PH_CADPS"
/note="Ca2+-dependent activator protein (also called CAPS)
Pleckstrin homology (PH) domain; cd01234"
/db_xref="CDD:269940"
Region 755..1074
/region_name="Interaction with DRD2.
/evidence=ECO:0000269|PubMed:15857609"
/note="propagated from UniProtKB/Swiss-Prot (Q86UW7.2)"
Region 801..1245
/region_name="MUN"
/note="MUN domain; pfam06292"
/db_xref="CDD:461870"
Region 1274..1296
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q86UW7.2)"
Site 1290
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q8BYR5; propagated from
UniProtKB/Swiss-Prot (Q86UW7.2)"
CDS 1..1296
/gene="CADPS2"
/gene_synonym="CAPS2"
/coded_by="NM_017954.11:124..4014"
/note="isoform a is encoded by transcript variant 1"
/db_xref="CCDS:CCDS55158.1"
/db_xref="GeneID:93664"
/db_xref="HGNC:HGNC:16018"
/db_xref="MIM:609978"
ORIGIN
1 mldpssseee sdegleeesr dvlvaagssq rappaptreg rrdapgragg ggaarsvsps
61 psvlsegrde pqrqlddeqe rrirlqlyvf vvrciaypfn akqptdmarr qqklnkqqlq
121 llkerfqafl ngetqivade afcnavrsyy evflksdrva rmvqsggcsa ndfrevfkkn
181 iekrvrslpe idglsketvl sswiakydai yrgeedlckq pnrmalsavs elilskeqly
241 emfqqilgik klehqllyna cqldnadeqa aqirreldgr lqladkmake rkfpkfiakd
301 menmyieelr ssvnllmanl eslpvskggp efklqklkrs qnsafldigd eneiqlsksd
361 vvlsftleiv imevqglksv apnrivyctm evegeklqtd qaeasrpqwg tqgdfttthp
421 rpvvkvklft estgvlaled kelgrvilyp tsnssksael hrmvvpknsq dsdlkiklav
481 rmdkpahmkh sgylyalgqk vwkrwkkryf vlvqvsqytf amcsyrekks epqelmqleg
541 ytvdytdphp glqggcmffn avkegdtvif asddeqdril wvqamyratg qsykpvpaiq
601 tqklnpkggt lhadaqlsgk dadrfqkhgm defisanpck ldhaflfril qrqtldhrln
661 dsysclgwfs pgqvfvldey carygvrgch rhlcylaelm ehsengavid ptllhysfaf
721 cashvhgnrp dgigtvsvee kerfeeiker lssllenqis hfrycfpfgr pegalkatls
781 llervlmkdi atpipaeevk kvvrkcleka alinytrlte yakieetmnq asparkleei
841 lhlaelciev lqqneehhae greafawwpd llaehaekfw alftvdmdta leaqpqdswd
901 sfplfqllnn flrndtllcn gkfhkhlqei fvplvvryvd lmessiaqsi hrgfeqetwq
961 pvknianslp nvalpkvpsl plnlpqipni staswmpsly estngsatse dlfwkldalq
1021 mfvfdlhwpe qefahhleqr lklmasdmle acvkrtrtaf elklqkaskt tdlripasvc
1081 tmfnvlvdak kqstklcald ggqeqqyhsk iddlidnsvk eiisllvskf vsvlegvlsk
1141 lsrydegtff ssilsftvka aakyvdvpkp gmdladtyim fvrqnqdilr ekvneemyie
1201 klfdqwysss mkvicvwltd rldlqlhiyq lktlikivkk tyrdfrlqgv legtlnskty
1261 dtvhrrltve eatasvsegg glqgitmkds deeeeg
//