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CADPS2 Ca++-dependent secretion activator 2 [ Homo sapiens (human) ]

Gene ID: 93664, updated on 26-Aug-2014
Official Symbol
CADPS2provided by HGNC
Official Full Name
Ca++-dependent secretion activator 2provided by HGNC
Primary source
HGNC:16018
See related
Ensembl:ENSG00000081803; HPRD:12996; MIM:609978; Vega:OTTHUMG00000157093
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
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]
See CADPS2 in Epigenomics, MapViewer
Location:
7q31.3
Exon count:
32
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (122318424..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 FEZF1 antisense RNA 1 Neighboring gene FEZ family zinc finger 1 Neighboring gene uncharacterized LOC102724540 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 taste receptor, type 2, member 16 Neighboring gene solute carrier family 13 (sodium/sulfate symporter), member 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Haploinsufficency

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

ISCA Genome Curation Page
Triplosensitivity

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

ISCA Genome Curation Page

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Voxelwise genome-wide association study (vGWAS).
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

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
positive regulation of exocytosis IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle priming IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane 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
 
Preferred Names
calcium-dependent secretion activator 2
Names
calcium-dependent secretion activator 2
CAPS-2
Ca2+-dependent activator protein for secretion 2
calcium-dependent activator protein for secretion 2

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_016215.1 

    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 proteins identical to 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
    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 668
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:797888
    Blast Score: 353
    DUF1041; Domain of Unknown Function (DUF1041)
  2. NM_001167940.1NP_001161412.1  calcium-dependent secretion activator 2 isoform c

    See proteins identical to 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/TrEMBL
    B7ZM57
    UniProtKB/Swiss-Prot
    Q86UW7
    Related
    ENSP00000325581, ENST00000313070
    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 671
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800898
    Blast Score: 371
    DUF1041; Domain of Unknown Function (DUF1041)
  3. NM_017954.10NP_060424.9  calcium-dependent secretion activator 2 isoform a

    See proteins identical to 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, DA118516, DA248542
    Consensus CDS
    CCDS55158.1
    UniProtKB/Swiss-Prot
    Q86UW7
    Related
    ENSP00000333940, ENST00000334010
    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 671
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800894
    Blast Score: 372
    DUF1041; Domain of Unknown Function (DUF1041)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    122318424..122886759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250708.1XP_005250765.1  

    See proteins identical to XP_005250765.1

    UniProtKB/TrEMBL
    X5D7B2
    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 89
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 669
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:797888
    Blast Score: 353
    DUF1041; Domain of Unknown Function (DUF1041)
  2. XM_005250702.2XP_005250759.1  

    Related
    ENSP00000398481, OTTHUMP00000211454, ENST00000449022, OTTHUMT00000347414
    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 671
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:797891
    Blast Score: 372
    DUF1041; Domain of Unknown Function (DUF1041)
  3. XM_005250706.2XP_005250763.1  

    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 669
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:797898
    Blast Score: 389
    DUF1041; Domain of Unknown Function (DUF1041)
  4. XM_005250700.2XP_005250757.1  

    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 671
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:797898
    Blast Score: 389
    DUF1041; Domain of Unknown Function (DUF1041)
  5. XM_005250697.2XP_005250754.1  

    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 670
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:797898
    Blast Score: 389
    DUF1041; Domain of Unknown Function (DUF1041)
  6. XM_005250707.2XP_005250764.1  

    Related
    ENSP00000400401, OTTHUMP00000211455, ENST00000412584, OTTHUMT00000347415
    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 669
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800891
    Blast Score: 353
    DUF1041; Domain of Unknown Function (DUF1041)
  7. XM_005250701.2XP_005250758.1  

    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 670
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800891
    Blast Score: 354
    DUF1041; Domain of Unknown Function (DUF1041)
  8. XM_005250699.2XP_005250756.1  

    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 670
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800894
    Blast Score: 372
    DUF1041; Domain of Unknown Function (DUF1041)
  9. XM_005250705.2XP_005250762.1  

    See proteins identical to XP_005250762.1

    UniProtKB/TrEMBL
    X5D8X0
    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 669
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800898
    Blast Score: 370
    DUF1041; Domain of Unknown Function (DUF1041)
  10. XM_005250704.2XP_005250761.1  

    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 669
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800898
    Blast Score: 370
    DUF1041; Domain of Unknown Function (DUF1041)
  11. XM_005250696.2XP_005250753.1  

    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 670
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800898
    Blast Score: 371
    DUF1041; Domain of Unknown Function (DUF1041)
  12. XM_005250703.2XP_005250760.1  

    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 669
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800901
    Blast Score: 389
    DUF1041; Domain of Unknown Function (DUF1041)
  13. XM_005250698.2XP_005250755.1  

    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 671
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800901
    Blast Score: 390
    DUF1041; Domain of Unknown Function (DUF1041)
  14. XM_005250695.2XP_005250752.1  

    Conserved Domains (3) summary
    smart00239
    Location:366448
    Blast Score: 90
    C2; Protein kinase C conserved region 2 (CalB)
    cd01234
    Location:481600
    Blast Score: 670
    PH_CADPS; Ca2+-dependent activator protein (also called CAPS) Pleckstrin homology (PH) domain
    pfam06292
    Location:800901
    Blast Score: 390
    DUF1041; Domain of Unknown Function (DUF1041)

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    116321864..116889045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    121891856..122459852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)