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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADPS2-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	22710270	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	20302894		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	20302894		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	36774336	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23715297, 29095904	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21626674, 23615300, 24287856, 24737869, 28647363, 28963059, 29095904, 31707317		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	12659812, 17380209, 19238500, 20302894, 21601610, 22001167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	17380209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	23715297	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	29867227	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	26881866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	19238500		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24737869		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	19238500		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24737869		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	36774336	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	21601610		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31707317		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	20302894		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28647363		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34919646	Associate	★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	21626674		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	21626674, 24287856, 31707317		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21601610		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21601610		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Social Communication Disorder	Social Communication Disorder	BEFREE	20302894		★☆☆☆☆ Found in Text Mining only