• Gene id: 93664

Gene Summary

• Gene Symbol: CADPS2   Gene   UCSC   Ensembl
• Aliases: CAPS2
• Gene name: calcium dependent secretion activator 2
• Alternate names: calcium-dependent secretion activator 2, 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,
• Gene location: 7q31.32 (122886758: 122318410)     Exons: 34     NC_000007.14
• Gene summary(Entrez): 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 ge
• OMIM: 609978

Protein Summary

• Protein general information: Q86UW7  
  • Name: Calcium dependent secretion activator 2 (Calcium dependent activator protein for secretion 2) (CAPS 2)
  • Length: 1296  
  • Mass: 147735
  • Tissue specificity: Widely expressed. Expressed in all adult and fetal tissues examined, with the strongest expression in kidney and pancreas. In brain, it is expressed at high levels in cerebellum, to a lesser degree in cerebral cortex, occipital pole, a
• Sequence:

  MLDPSSSEEESDEGLEEESRDVLVAAGSSQRAPPAPTREGRRDAPGRAGGGGAARSVSPSPSVLSEGRDEPQRQL
  DDEQERRIRLQLYVFVVRCIAYPFNAKQPTDMARRQQKLNKQQLQLLKERFQAFLNGETQIVADEAFCNAVRSYY
  EVFLKSDRVARMVQSGGCSANDFREVFKKNIEKRVRSLPEIDGLSKETVLSSWIAKYDAIYRGEEDLCKQPNRMA
  LSAVSELILSKEQLYEMFQQILGIKKLEHQLLYNACQLDNADEQAAQIRRELDGRLQLADKMAKERKFPKFIAKD
  MENMYIEELRSSVNLLMANLESLPVSKGGPEFKLQKLKRSQNSAFLDIGDENEIQLSKSDVVLSFTLEIVIMEVQ
  GLKSVAPNRIVYCTMEVEGEKLQTDQAEASRPQWGTQGDFTTTHPRPVVKVKLFTESTGVLALEDKELGRVILYP
  TSNSSKSAELHRMVVPKNSQDSDLKIKLAVRMDKPAHMKHSGYLYALGQKVWKRWKKRYFVLVQVSQYTFAMCSY
  REKKSEPQELMQLEGYTVDYTDPHPGLQGGCMFFNAVKEGDTVIFASDDEQDRILWVQAMYRATGQSYKPVPAIQ
  TQKLNPKGGTLHADAQLSGKDADRFQKHGMDEFISANPCKLDHAFLFRILQRQTLDHRLNDSYSCLGWFSPGQVF
  VLDEYCARYGVRGCHRHLCYLAELMEHSENGAVIDPTLLHYSFAFCASHVHGNRPDGIGTVSVEEKERFEEIKER
  LSSLLENQISHFRYCFPFGRPEGALKATLSLLERVLMKDIATPIPAEEVKKVVRKCLEKAALINYTRLTEYAKIE
  ETMNQASPARKLEEILHLAELCIEVLQQNEEHHAEGREAFAWWPDLLAEHAEKFWALFTVDMDTALEAQPQDSWD
  SFPLFQLLNNFLRNDTLLCNGKFHKHLQEIFVPLVVRYVDLMESSIAQSIHRGFEQETWQPVKNIANSLPNVALP
  KVPSLPLNLPQIPNISTASWMPSLYESTNGSATSEDLFWKLDALQMFVFDLHWPEQEFAHHLEQRLKLMASDMLE
  ACVKRTRTAFELKLQKASKTTDLRIPASVCTMFNVLVDAKKQSTKLCALDGGQEQQYHSKIDDLIDNSVKEIISL
  LVSKFVSVLEGVLSKLSRYDEGTFFSSILSFTVKAAAKYVDVPKPGMDLADTYIMFVRQNQDILREKVNEEMYIE
  KLFDQWYSSSMKVICVWLTDRLDLQLHIYQLKTLIKIVKKTYRDFRLQGVLEGTLNSKTYDTVHRRLTVEEATAS
  VSEGGGLQGITMKDSDEEEEG

• Structural information:
  • Protein Domains: (350..46-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (487..59-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (885..105-)
    (/note="MHD1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00587"-)
  • Interpro: IPR033227  IPR010439  IPR014770  IPR011993  IPR001849  
  • Prosite: PS50004 PS51258 PS50003
  • STRING: ENSP00000398481
• Other Databases: GeneCards:  CADPS2  Malacards:  CADPS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008289	lipid binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016082	synaptic vesicle priming	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0098688	parallel fiber to Purkinje cell synapse	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0009267	cellular response to starvation	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045921	positive regulation of exocytosis	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0098978	glutamatergic synapse	IBA	cellular component
GO:0045921	positive regulation of exocytosis	IBA	biological process
GO:0006887	exocytosis	IBA	biological process
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:1990504	dense core granule exocytosis	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray