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CADPS2 calcium dependent secretion activator 2 [ Homo sapiens (human) ]

Gene ID: 93664, updated on 1-Jun-2020

Summary

Official Symbol
CADPS2provided by HGNC
Official Full Name
calcium dependent secretion activator 2provided by HGNC
Primary source
HGNC:HGNC:16018
See related
Ensembl:ENSG00000081803 MIM:609978
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAPS2
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]
Expression
Ubiquitous expression in kidney (RPKM 9.9), brain (RPKM 7.6) and 23 other tissues See more
Orthologs

Genomic context

See CADPS2 in Genome Data Viewer
Location:
7q31.32
Exon count:
34
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (122318411..122886759, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (121958478..122526813, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 37 Neighboring gene VISTA enhancer hs1809 Neighboring gene FEZF1 antisense RNA 1 Neighboring gene FEZ family zinc finger 1 Neighboring gene uncharacterized LOC105375481 Neighboring gene ribosomal protein S26 pseudogene 31 Neighboring gene ring finger protein 133 Neighboring gene ring finger protein 148 Neighboring gene v-rel avian reticuloendotheliosis viral oncogene homolog A pseudogene Neighboring gene uncharacterized LOC105375482 Neighboring gene taste 2 receptor member 16

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-07-10)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-07-10)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
Voxelwise genome-wide association study (vGWAS).
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40851, KIAA1591

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to starvation IEA
Inferred from Electronic Annotation
more info
 
dense core granule exocytosis IEA
Inferred from Electronic Annotation
more info
 
exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle priming IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
calcium-dependent secretion activator 2
Names
CAPS-2
Ca++-dependent secretion activator 2
Ca2+ dependent secretion activator 2
Ca2+-dependent activator protein for secretion 2
calcium-dependent activator protein for secretion 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016215.2 RefSeqGene

    Range
    5001..573336
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001009571.3NP_001009571.2  calcium-dependent secretion activator 2 isoform b

    See identical proteins and their annotated locations for NP_001009571.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three alternate in-frame exons and includes an alternate in-frame exon, compared to variant 3. The resulting isoform (b) differs in four regions and is shorter compared to isoform c.
    Source sequence(s)
    AB046811, AC015983, AF401638, BX110721, DA118516, DA248542
    Consensus CDS
    CCDS47691.1
    UniProtKB/Swiss-Prot
    Q86UW7
    UniProtKB/TrEMBL
    X5DNG0
    Related
    ENSP00000400401.2, ENST00000412584.6
    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:798888
    DUF1041; Domain of Unknown Function (DUF1041)
  2. NM_001167940.1NP_001161412.1  calcium-dependent secretion activator 2 isoform c

    See identical proteins and their annotated locations for NP_001161412.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
    Source sequence(s)
    AC015983, AF401638, BC144279, BX110721, DA118516, DA248542
    UniProtKB/Swiss-Prot
    Q86UW7
    UniProtKB/TrEMBL
    B7ZM57
    Related
    ENSP00000325581.8, ENST00000313070.11
    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:801898
    DUF1041; Domain of Unknown Function (DUF1041)
  3. NM_001363389.1NP_001350318.1  calcium-dependent secretion activator 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AB046811, AC006463, AC015983, BP376175, BX110721, DA060101, DA210803, DA248542, KJ534803
    Conserved Domains (3) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:801901
    DUF1041; Domain of Unknown Function (DUF1041)
  4. NM_001363390.1NP_001350319.1  calcium-dependent secretion activator 2 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC006463, AC015983, AK054853, BX110721, DA210803, DA248542, KJ534803
    Conserved Domains (3) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:801901
    DUF1041; Domain of Unknown Function (DUF1041)
  5. NM_001363391.1NP_001350320.1  calcium-dependent secretion activator 2 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC006463, AC015983, AK054853, BP378689, BX110721, DA041479, DA210803, DA248542, KJ534803
    Conserved Domains (3) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:798898
    DUF1041; Domain of Unknown Function (DUF1041)
  6. NM_001363392.1NP_001350321.1  calcium-dependent secretion activator 2 isoform g

    Status: REVIEWED

    Source sequence(s)
    AB046811, AC006463, AC015983, BP376175, BX110721, DA210803, DA248542, DT220064, KJ534803
    Conserved Domains (3) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:801901
    DUF1041; Domain of Unknown Function (DUF1041)
  7. NM_001363393.1NP_001350322.1  calcium-dependent secretion activator 2 isoform h

    Status: REVIEWED

    Source sequence(s)
    AB046811, AC006463, AC015983, BX110721, DA248542, KJ534803, KJ534804
    Conserved Domains (3) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:801901
    DUF1041; Domain of Unknown Function (DUF1041)
  8. NM_001363394.1NP_001350323.1  calcium-dependent secretion activator 2 isoform i

    Status: REVIEWED

    Source sequence(s)
    AB046811, AC004594, AC006463, AC015983, BX110721, DA248542, KJ534803
    Conserved Domains (3) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:801898
    DUF1041; Domain of Unknown Function (DUF1041)
  9. NM_001363395.1NP_001350324.1  calcium-dependent secretion activator 2 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC004594, AC004838, AC006009, AC006463, AC015983, AC091438
    Conserved Domains (3) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:798895
    DUF1041; Domain of Unknown Function (DUF1041)
  10. NM_001363396.1NP_001350325.1  calcium-dependent secretion activator 2 isoform k

    Status: REVIEWED

    Source sequence(s)
    AC006463, AC015983, AK054853, BX110721, DA248542, KJ534798, KJ534803
    Conserved Domains (3) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:801894
    DUF1041; Domain of Unknown Function (DUF1041)
  11. NM_001363397.1NP_001350326.1  calcium-dependent secretion activator 2 isoform l

    Status: REVIEWED

    Source sequence(s)
    AB046811, AC004594, AC006463, AC015983, BX110721, DA248542, KJ534802, KJ534803
    Conserved Domains (3) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:801891
    DUF1041; Domain of Unknown Function (DUF1041)
  12. NM_001363398.1NP_001350327.1  calcium-dependent secretion activator 2 isoform m

    Status: REVIEWED

    Source sequence(s)
    AC015983, AK054853, BX110721, DA248542, KJ534805
    Conserved Domains (3) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:798888
    DUF1041; Domain of Unknown Function (DUF1041)
  13. NM_001363399.1NP_001350328.1  calcium-dependent secretion activator 2 isoform n

    Status: REVIEWED

    Source sequence(s)
    AC004594, AC004838, AC006009, AC006463, AC015983, AC091438
    Conserved Domains (3) summary
    smart00239
    Location:205287
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:320439
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:640740
    DUF1041; Domain of Unknown Function (DUF1041)
  14. NM_001363400.1NP_001350329.1  calcium-dependent secretion activator 2 isoform o

    Status: REVIEWED

    Source sequence(s)
    AC004594, AC004838, AC006009, AC006463, AC015983, AC091438
    Conserved Domains (3) summary
    smart00239
    Location:205287
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:320439
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:640740
    DUF1041; Domain of Unknown Function (DUF1041)
  15. NM_017954.11NP_060424.9  calcium-dependent secretion activator 2 isoform a

    See identical proteins and their annotated locations for NP_060424.9

    Status: REVIEWED

    Description
    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.
    Source sequence(s)
    AB046811, AC015983, AY264289, BC144278, BX110721, DA248542
    Consensus CDS
    CCDS55158.1
    UniProtKB/Swiss-Prot
    Q86UW7
    Related
    ENSP00000398481.2, ENST00000449022.7
    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:801894
    DUF1041; Domain of Unknown Function (DUF1041)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    122318411..122886759 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012794.2XP_016868283.1  calcium-dependent secretion activator 2 isoform X8

  2. XM_005250701.5XP_005250758.1  calcium-dependent secretion activator 2 isoform X7

    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:801891
    DUF1041; Domain of Unknown Function (DUF1041)
  3. XM_005250699.5XP_005250756.1  calcium-dependent secretion activator 2 isoform X5

    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:801894
    DUF1041; Domain of Unknown Function (DUF1041)
  4. XM_005250704.5XP_005250761.1  calcium-dependent secretion activator 2 isoform X11

    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:801898
    DUF1041; Domain of Unknown Function (DUF1041)
  5. XM_005250696.5XP_005250753.1  calcium-dependent secretion activator 2 isoform X3

    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:801898
    DUF1041; Domain of Unknown Function (DUF1041)
  6. XM_017012798.2XP_016868287.1  calcium-dependent secretion activator 2 isoform X22

  7. XM_005250702.5XP_005250759.1  calcium-dependent secretion activator 2 isoform X9

    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:798891
    DUF1041; Domain of Unknown Function (DUF1041)
  8. XM_005250706.5XP_005250763.1  calcium-dependent secretion activator 2 isoform X13

    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:798898
    DUF1041; Domain of Unknown Function (DUF1041)
  9. XM_005250697.5XP_005250754.1  calcium-dependent secretion activator 2 isoform X2

    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:798898
    DUF1041; Domain of Unknown Function (DUF1041)
  10. XM_005250707.5XP_005250764.1  calcium-dependent secretion activator 2 isoform X15

    Conserved Domains (4) summary
    smart00239
    Location:366448
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam00169
    Location:489588
    PH; PH domain
    pfam06292
    Location:801891
    DUF1041; Domain of Unknown Function (DUF1041)
  11. XM_024446998.1XP_024302766.1  calcium-dependent secretion activator 2 isoform X24

    Related
    ENSP00000380833.4, ENST00000397721.4
    Conserved Domains (2) summary
    cd01234
    Location:110229
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:430530
    DUF1041; Domain of Unknown Function (DUF1041)
  12. XM_017012796.2XP_016868285.1  calcium-dependent secretion activator 2 isoform X20

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