LOCUS       NP_060424               1296 aa            linear   PRI 28-APR-2025
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
//
