Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9196
Gene name	Potassium voltage-gated channel subfamily A regulatory beta subunit 3
Gene symbol	KCNAB3
Synonyms (NCBI Gene)	AKR6A9KCNA3.1BKCNA3BKV-BETA-3
Chromosome	17
Chromosome location	17p13.1
Summary	This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodi

Show/Hide all (23)

miRTarBase ID	miRNA	Experiments
MIRT1080408	hsa-let-7a	CLIP-seq
MIRT1080409	hsa-let-7b	CLIP-seq
MIRT1080410	hsa-let-7c	CLIP-seq
MIRT1080411	hsa-let-7d	CLIP-seq
MIRT1080412	hsa-let-7e	CLIP-seq
MIRT1080413	hsa-let-7f	CLIP-seq
MIRT1080414	hsa-let-7g	CLIP-seq
MIRT1080415	hsa-let-7i	CLIP-seq
MIRT1080416	hsa-miR-1206	CLIP-seq
MIRT1080417	hsa-miR-1304	CLIP-seq
MIRT1080418	hsa-miR-135a	CLIP-seq
MIRT1080419	hsa-miR-135b	CLIP-seq
MIRT1080420	hsa-miR-202	CLIP-seq
MIRT1080421	hsa-miR-296-5p	CLIP-seq
MIRT1080422	hsa-miR-297	CLIP-seq
MIRT1080423	hsa-miR-3119	CLIP-seq
MIRT1080424	hsa-miR-3201	CLIP-seq
MIRT1080425	hsa-miR-375	CLIP-seq
MIRT1080426	hsa-miR-4458	CLIP-seq
MIRT1080427	hsa-miR-4500	CLIP-seq
MIRT1080428	hsa-miR-4791	CLIP-seq
MIRT1080429	hsa-miR-567	CLIP-seq
MIRT1080430	hsa-miR-98	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005737	Component	Cytoplasm	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	9857044
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008106	Function	Alcohol dehydrogenase (NADP+) activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	TAS	9857044
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IBA

MIM	HGNC	e!Ensembl
604111	6230	ENSG00000170049

O43448

Protein name

Voltage-gated potassium channel subunit beta-3 (EC 1.1.1.-) (K(+) channel subunit beta-3) (Kv-beta-3)

Protein function

Regulatory subunit of the voltage-gated potassium (Kv) channels composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunit (PubMed:9857044). The beta-3/KCNAB3 subunit may mediate closure of potassium channels

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00248	Aldo_ket_red	92 → 396	Aldo/keto reductase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain specific. Most prominent expression in cerebellum. Weaker signals detected in cortex, occipital lobe, frontal lobe and temporal lobe. Not detected in spinal cord, heart, lung, liver, kidney, pancreas, placenta and skeletal muscle

Sequence

MQVSIACTEQNLRSRSSEDRLCGPRPGPGGGNGGPAGGGHGNPPGGGGSGPKARAALVPR
PPAPAGALRESTGRGTGMKYRNLGKSGLRVSCLGLGTWVTFGSQISDETAEDVLTVAYEH
GVNLFDTAEVYAAGKAERTLGNILKSKGWRRSSYVITTKIFWGGQAETERGLSRKHIIEG
LRGSLERLQLGYVDIVFANRSDPNCPMEEIVRAMTYVINQGLALYWGTSRWGAAEIMEAY
SMARQFNLIPPVCEQAEHHLFQREKVEMQLPELYHKIGVGSVTWYPLACGLITSKYDGRV
PDTCRASIKGYQWLKDKVQSEDGKKQQAKVMDLLPVAHQLGCTVAQLAIAWCLRSEGVSS
VLLGVSSAEQLIEHLGALQVLSQLTPQTVMEIDGLLGNKPHSKK

Sequence length

404

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels

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)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Epilepsy	Epilepsy	Pubtator	32990398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	32990398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32990398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	32990398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNAB3 (potassium voltage-gated channel subfamily A regulatory beta subunit 3)