KCNS3 (potassium voltage-gated channel modifier subfamily S member 3)

Gene

• Entrez ID: 3790
• Gene name: Potassium voltage-gated channel modifier subfamily S member 3
• Gene symbol: KCNS3
• Synonyms (NCBI Gene): KV9.3
• Chromosome: 2
• Chromosome location: 2p24.2
• Summary: Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the contro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005009	hsa-miR-125b-5p	Microarray	17891175
MIRT022698	hsa-miR-124-3p	Microarray	18668037
MIRT024380	hsa-miR-215-5p	Microarray	19074876
MIRT026551	hsa-miR-192-5p	Microarray	19074876
MIRT1082462	hsa-miR-192	CLIP-seq
MIRT1082463	hsa-miR-215	CLIP-seq
MIRT1082464	hsa-miR-3646	CLIP-seq
MIRT1082465	hsa-miR-3919	CLIP-seq
MIRT1082466	hsa-miR-4269	CLIP-seq
MIRT2020521	hsa-miR-223	CLIP-seq
MIRT2020522	hsa-miR-3130-3p	CLIP-seq
MIRT2020523	hsa-miR-3908	CLIP-seq
MIRT2020524	hsa-miR-3942-3p	CLIP-seq
MIRT2020525	hsa-miR-4291	CLIP-seq
MIRT2020526	hsa-miR-4697-3p	CLIP-seq
MIRT2020527	hsa-miR-545	CLIP-seq
MIRT2020525	hsa-miR-4291	CLIP-seq
MIRT2020527	hsa-miR-545	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	TAS	10484328
GO:0005267	Function	Potassium channel activity	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	10484328
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	ISS
GO:0015459	Function	Potassium channel regulator activity	TAS	10484328
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	ISS

Other IDs

• MIM: 603888
• HGNC: 6302
• e!Ensembl: ENSG00000170745

Protein

• UniProt ID: Q9BQ31
• Protein name: Delayed-rectifier potassium channel regulatory subunit KCNS3 (Delayed-rectifier K(+) channel alpha subunit 3) (Delayed-rectifier potassium channel subunit Kv9.3) (Kv9.3) (Potassium voltage-gated channel subfamily S member 3)
• Protein function: Potassium channel regulatory subunit that modulates the delayed rectifier potassium channel activity of KCNB1 by namely slowing down the deactivation and inactivation time constants (PubMed:10484328). While it does not form functional channel on
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	17 → 116	BTB/POZ domain	Domain
  PF00520	Ion_trans	184 → 417	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in whole normal term placental and placental chorionic plate arteries and veins. Detected in syncytiotrophoblast and in blood vessel endothelium within intermediate villi and chorionic plate (at protein level) (PubMed:22943705
• Sequence:

  MVFGEFFHRPGQDEELVNLNVGGFKQSVDQSTLLRFPHTRLGKLLTCHSEEAILELCDDY
  SVADKEYYFDRNPSLFRYVLNFYYTGKLHVMEELCVFSFCQEIEYWGINELFIDSCCSNR
  YQERKEENHEKDWDQKSHDVSTDSSFEESSLFEKELEKFDTLRFGQLRKKIWIRMENPAY
  CLSAKLIAISSLSVVLASIVAMCVHSMSEFQNEDGEVDDPVLEGVEIACIAWFTGELAVR
  LAAAPCQKKFWKNPLNIIDFVSIIPFYATLAVDTKEEESEDIENMGKVVQILRLMRIFRI
  LKLARHSVGLRSLGATLRHSYHEVGLLLLFLSVGISIFSVLIYSVEKDDHTSSLTSIPIC
  WWWATISMTTVGYGDTHPVTLAGKLIASTCIICGILVVALPITIIFNKFSKYYQKQKDID
  VDQCSEDAPEKCHELPYFNIRDIYAQRMHTFITSLSSVGIVVSDPDSTDASSIEDNEDIC
  NTTSLENCTAK

• Sequence length: 491

Pathways

Reactome:

Voltage gated Potassium channels
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion

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
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNS3-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METASTATIC COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTINODULAR GOITER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	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
Asthma	Asthma	BEFREE	15714333		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24170294		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	26635082	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34349187	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22937123, 24170294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24170294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations