CADPS2 (calcium dependent secretion activator 2)

Gene

• Entrez ID: 93664
• Gene name: Calcium dependent secretion activator 2
• Gene symbol: CADPS2
• Synonyms (NCBI Gene): CAPS2
• Chromosome: 7
• Chromosome location: 7q31.32
• 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 ge

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018754	hsa-miR-335-5p	Microarray	18185580
MIRT024929	hsa-miR-215-5p	Microarray	19074876
MIRT026747	hsa-miR-192-5p	Microarray	19074876
MIRT047976	hsa-miR-30c-5p	CLASH	23622248
MIRT858692	hsa-miR-1228	CLIP-seq
MIRT858693	hsa-miR-3129-3p	CLIP-seq
MIRT858694	hsa-miR-4450	CLIP-seq
MIRT858695	hsa-miR-4667-5p	CLIP-seq
MIRT858696	hsa-miR-4700-5p	CLIP-seq
MIRT1954960	hsa-miR-4762-5p	CLIP-seq
MIRT1954961	hsa-miR-4778-3p	CLIP-seq
MIRT2192570	hsa-miR-1243	CLIP-seq
MIRT2192571	hsa-miR-2276	CLIP-seq
MIRT2192572	hsa-miR-329	CLIP-seq
MIRT2192573	hsa-miR-362-3p	CLIP-seq
MIRT2192574	hsa-miR-3654	CLIP-seq
MIRT2192575	hsa-miR-374a	CLIP-seq
MIRT2192576	hsa-miR-374b	CLIP-seq
MIRT2192577	hsa-miR-3941	CLIP-seq
MIRT2192578	hsa-miR-548ag	CLIP-seq
MIRT2192579	hsa-miR-548ai	CLIP-seq
MIRT2192580	hsa-miR-603	CLIP-seq
MIRT2426866	hsa-miR-3605-5p	CLIP-seq
MIRT2426867	hsa-miR-4731-3p	CLIP-seq
MIRT2426868	hsa-miR-4801	CLIP-seq
MIRT2426869	hsa-miR-583	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	38538594
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	38538594
GO:0005929	Component	Cilium	IEA
GO:0006887	Process	Exocytosis	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0016082	Process	Synaptic vesicle priming	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0036064	Component	Ciliary basal body	IDA	38538594
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045921	Process	Positive regulation of exocytosis	IBA
GO:0045921	Process	Positive regulation of exocytosis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1990504	Process	Dense core granule exocytosis	IEA

Other IDs

• MIM: 609978
• HGNC: 16018
• e!Ensembl: ENSG00000081803

Protein

• UniProt ID: Q86UW7
• Protein name: Calcium-dependent secretion activator 2 (Calcium-dependent activator protein for secretion 2) (CAPS-2)
• Protein function: Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granu
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	488 → 590	PH domain	Domain
  PF06292	DUF1041	801 → 894	Domain of Unknown Function (DUF1041)	Domain

• Tissue specificity: 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:

  MLDPSSSEEESDEGLEEESRDVLVAAGSSQRAPPAPTREGRRDAPGRAGGGGAARSVSPS
  PSVLSEGRDEPQRQLDDEQERRIRLQLYVFVVRCIAYPFNAKQPTDMARRQQKLNKQQLQ
  LLKERFQAFLNGETQIVADEAFCNAVRSYYEVFLKSDRVARMVQSGGCSANDFREVFKKN
  IEKRVRSLPEIDGLSKETVLSSWIAKYDAIYRGEEDLCKQPNRMALSAVSELILSKEQLY
  EMFQQILGIKKLEHQLLYNACQLDNADEQAAQIRRELDGRLQLADKMAKERKFPKFIAKD
  MENMYIEELRSSVNLLMANLESLPVSKGGPEFKLQKLKRSQNSAFLDIGDENEIQLSKSD
  VVLSFTLEIVIMEVQGLKSVAPNRIVYCTMEVEGEKLQTDQAEASRPQWGTQGDFTTTHP
  RPVVKVKLFTESTGVLALEDKELGRVILYPTSNSSKSAELHRMVVPKNSQDSDLKIKLAV
  RMDKPAHMKHSGYLYALGQKVWKRWKKRYFVLVQVSQYTFAMCSYREKKSEPQELMQLEG
  YTVDYTDPHPGLQGGCMFFNAVKEGDTVIFASDDEQDRILWVQAMYRATGQSYKPVPAIQ
  TQKLNPKGGTLHADAQLSGKDADRFQKHGMDEFISANPCKLDHAFLFRILQRQTLDHRLN
  DSYSCLGWFSPGQVFVLDEYCARYGVRGCHRHLCYLAELMEHSENGAVIDPTLLHYSFAF
  CASHVHGNRPDGIGTVSVEEKERFEEIKERLSSLLENQISHFRYCFPFGRPEGALKATLS
  LLERVLMKDIATPIPAEEVKKVVRKCLEKAALINYTRLTEYAKIEETMNQASPARKLEEI
  LHLAELCIEVLQQNEEHHAEGREAFAWWPDLLAEHAEKFWALFTVDMDTALEAQPQDSWD
  SFPLFQLLNNFLRNDTLLCNGKFHKHLQEIFVPLVVRYVDLMESSIAQSIHRGFEQETWQ
  PVKNIANSLPNVALPKVPSLPLNLPQIPNISTASWMPSLYESTNGSATSEDLFWKLDALQ
  MFVFDLHWPEQEFAHHLEQRLKLMASDMLEACVKRTRTAFELKLQKASKTTDLRIPASVC
  TMFNVLVDAKKQSTKLCALDGGQEQQYHSKIDDLIDNSVKEIISLLVSKFVSVLEGVLSK
  LSRYDEGTFFSSILSFTVKAAAKYVDVPKPGMDLADTYIMFVRQNQDILREKVNEEMYIE
  KLFDQWYSSSMKVICVWLTDRLDLQLHIYQLKTLIKIVKKTYRDFRLQGVLEGTLNSKTY
  DTVHRRLTVEEATASVSEGGGLQGITMKDSDEEEEG

• Sequence length: 1296

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
CADPS2-related disorder	Likely benign	rs183005983, rs118113605, rs76528953	RCV003924062 RCV003939413 RCV003983248
Clear cell carcinoma of kidney	Likely benign	rs200522504	RCV005902973

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	22710270
Attention Deficit Disorder with Hyperactivity	Associate	36774336
Autism Spectrum Disorder	Associate	23715297
Autistic Disorder	Associate	23715297
Breast Neoplasms	Associate	29867227
Memory Disorders	Associate	36774336
Neoplasms	Associate	29867227
Neurologic Manifestations	Associate	23715297
Parkinson Disease	Associate	34919646