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	8514
Gene name	Potassium voltage-gated channel subfamily A regulatory beta subunit 2
Gene symbol	KCNAB2
Synonyms (NCBI Gene)	AKR6A5HKvbeta2HKvbeta2.1HKvbeta2.2KCNA2BKV-BETA-2
Chromosome	1
Chromosome location	1p36.31
Summary	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro

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Show/Hide all (110)

miRTarBase ID	miRNA	Experiments
MIRT1080364	hsa-miR-125a-5p	CLIP-seq
MIRT1080365	hsa-miR-125b	CLIP-seq
MIRT1080366	hsa-miR-3124-3p	CLIP-seq
MIRT1080367	hsa-miR-3180-5p	CLIP-seq
MIRT1080368	hsa-miR-324-5p	CLIP-seq
MIRT1080369	hsa-miR-362-5p	CLIP-seq
MIRT1080370	hsa-miR-4270	CLIP-seq
MIRT1080371	hsa-miR-4319	CLIP-seq
MIRT1080372	hsa-miR-4441	CLIP-seq
MIRT1080373	hsa-miR-4685-5p	CLIP-seq
MIRT1080374	hsa-miR-4732-3p	CLIP-seq
MIRT1080375	hsa-miR-500b	CLIP-seq
MIRT1080376	hsa-miR-544b	CLIP-seq
MIRT1080377	hsa-miR-670	CLIP-seq
MIRT1080378	hsa-miR-339-5p	CLIP-seq
MIRT1080379	hsa-miR-3649	CLIP-seq
MIRT1080380	hsa-miR-3667-3p	CLIP-seq
MIRT1080381	hsa-miR-3689a-3p	CLIP-seq
MIRT1080382	hsa-miR-3689c	CLIP-seq
MIRT1080383	hsa-miR-4648	CLIP-seq
MIRT1080384	hsa-miR-4728-5p	CLIP-seq
MIRT1080385	hsa-miR-483-3p	CLIP-seq
MIRT1080386	hsa-miR-668	CLIP-seq
MIRT1080387	hsa-miR-671-5p	CLIP-seq
MIRT1080388	hsa-miR-1286	CLIP-seq
MIRT1080389	hsa-miR-214	CLIP-seq
MIRT1080390	hsa-miR-3155	CLIP-seq
MIRT1080391	hsa-miR-3155b	CLIP-seq
MIRT1080392	hsa-miR-3169	CLIP-seq
MIRT1080393	hsa-miR-3619-5p	CLIP-seq
MIRT1080394	hsa-miR-3654	CLIP-seq
MIRT1080395	hsa-miR-4515	CLIP-seq
MIRT1080396	hsa-miR-4520a-3p	CLIP-seq
MIRT1080397	hsa-miR-4638-3p	CLIP-seq
MIRT1080398	hsa-miR-4690-5p	CLIP-seq
MIRT1080399	hsa-miR-484	CLIP-seq
MIRT1080400	hsa-miR-761	CLIP-seq
MIRT1080401	hsa-miR-2355-5p	CLIP-seq
MIRT1080402	hsa-miR-3202	CLIP-seq
MIRT1080403	hsa-miR-4286	CLIP-seq
MIRT1080404	hsa-miR-4425	CLIP-seq
MIRT1080405	hsa-miR-4475	CLIP-seq
MIRT1080406	hsa-miR-4747-5p	CLIP-seq
MIRT1080407	hsa-miR-617	CLIP-seq
MIRT2019979	hsa-miR-4447	CLIP-seq
MIRT2019980	hsa-miR-4472	CLIP-seq
MIRT2019979	hsa-miR-4447	CLIP-seq
MIRT2019980	hsa-miR-4472	CLIP-seq
MIRT2019981	hsa-miR-4514	CLIP-seq
MIRT2019982	hsa-miR-4651	CLIP-seq
MIRT2019983	hsa-miR-4692	CLIP-seq
MIRT2019984	hsa-miR-608	CLIP-seq
MIRT2452158	hsa-miR-1302	CLIP-seq
MIRT1080389	hsa-miR-214	CLIP-seq
MIRT2452159	hsa-miR-2861	CLIP-seq
MIRT2452160	hsa-miR-3122	CLIP-seq
MIRT1080390	hsa-miR-3155	CLIP-seq
MIRT1080391	hsa-miR-3155b	CLIP-seq
MIRT1080392	hsa-miR-3169	CLIP-seq
MIRT1080393	hsa-miR-3619-5p	CLIP-seq
MIRT1080394	hsa-miR-3654	CLIP-seq
MIRT1080381	hsa-miR-3689a-3p	CLIP-seq
MIRT1080382	hsa-miR-3689c	CLIP-seq
MIRT2452161	hsa-miR-3689d	CLIP-seq
MIRT2452162	hsa-miR-3913-5p	CLIP-seq
MIRT2452163	hsa-miR-3978	CLIP-seq
MIRT2452164	hsa-miR-4298	CLIP-seq
MIRT1080395	hsa-miR-4515	CLIP-seq
MIRT1080396	hsa-miR-4520a-3p	CLIP-seq
MIRT1080397	hsa-miR-4638-3p	CLIP-seq
MIRT2452165	hsa-miR-4650-5p	CLIP-seq
MIRT1080398	hsa-miR-4690-5p	CLIP-seq
MIRT1080384	hsa-miR-4728-5p	CLIP-seq
MIRT2452166	hsa-miR-4796-3p	CLIP-seq
MIRT1080399	hsa-miR-484	CLIP-seq
MIRT2452167	hsa-miR-661	CLIP-seq
MIRT2452168	hsa-miR-7	CLIP-seq
MIRT1080400	hsa-miR-761	CLIP-seq
MIRT2452169	hsa-miR-765	CLIP-seq
MIRT2452158	hsa-miR-1302	CLIP-seq
MIRT2452159	hsa-miR-2861	CLIP-seq
MIRT2452160	hsa-miR-3122	CLIP-seq
MIRT2452162	hsa-miR-3913-5p	CLIP-seq
MIRT2452164	hsa-miR-4298	CLIP-seq
MIRT2452165	hsa-miR-4650-5p	CLIP-seq
MIRT2452167	hsa-miR-661	CLIP-seq
MIRT1080389	hsa-miR-214	CLIP-seq
MIRT1080390	hsa-miR-3155	CLIP-seq
MIRT1080391	hsa-miR-3155b	CLIP-seq
MIRT1080392	hsa-miR-3169	CLIP-seq
MIRT1080393	hsa-miR-3619-5p	CLIP-seq
MIRT1080394	hsa-miR-3654	CLIP-seq
MIRT1080395	hsa-miR-4515	CLIP-seq
MIRT1080396	hsa-miR-4520a-3p	CLIP-seq
MIRT1080397	hsa-miR-4638-3p	CLIP-seq
MIRT1080398	hsa-miR-4690-5p	CLIP-seq
MIRT1080399	hsa-miR-484	CLIP-seq
MIRT1080400	hsa-miR-761	CLIP-seq
MIRT1080389	hsa-miR-214	CLIP-seq
MIRT1080390	hsa-miR-3155	CLIP-seq
MIRT1080391	hsa-miR-3155b	CLIP-seq
MIRT1080392	hsa-miR-3169	CLIP-seq
MIRT1080393	hsa-miR-3619-5p	CLIP-seq
MIRT1080394	hsa-miR-3654	CLIP-seq
MIRT1080395	hsa-miR-4515	CLIP-seq
MIRT1080396	hsa-miR-4520a-3p	CLIP-seq
MIRT1080397	hsa-miR-4638-3p	CLIP-seq
MIRT1080398	hsa-miR-4690-5p	CLIP-seq
MIRT1080399	hsa-miR-484	CLIP-seq
MIRT1080400	hsa-miR-761	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	21357749, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	ISS
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:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11086297
GO:0008106	Function	Alcohol dehydrogenase (NADP+) activity	IBA
GO:0008106	Function	Alcohol dehydrogenase (NADP+) activity	ISS
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IDA	7649300
GO:0016020	Component	Membrane	IDA	11086297
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030424	Component	Axon	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0044224	Component	Juxtaparanode region of axon	IBA
GO:0044224	Component	Juxtaparanode region of axon	IDA	11086297
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0045202	Component	Synapse	IEA
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IBA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	7649300
GO:1990002	Function	Methylglyoxal reductase (NADPH) (acetol producing) activity	IEA
GO:1990031	Component	Pinceau fiber	ISS
GO:2000008	Process	Regulation of protein localization to cell surface	ISS

MIM	HGNC	e!Ensembl
601142	6229	ENSG00000069424

Q13303

Protein name

Voltage-gated potassium channel subunit beta-2 (EC 1.1.1.-) (K(+) channel subunit beta-2) (Kv-beta-2) (hKvbeta2)

Protein function

Regulatory subunit of the voltage-gated potassium (Kv) Shaker channels composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits (PubMed:11825900, PubMed:7649300). The beta-2/KCNAB2 cytoplasmic subunit prom

PDB

1ZSX , 7EJ1 , 7EJ2 , 7WF3 , 7WF4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00248	Aldo_ket_red	51 → 356	Aldo/keto reductase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in myelinated nerve fibers in the spinal cord, in the juxtaparanodal region of the nodes of Ranvier, but also in the paranodal region (PubMed:11086297). Detected in hippocampus (at protein level) (PubMed:21357749). Detected in

Sequence

MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTF
GGQITDEMAEQLMTLAYDNGINLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIF
WGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRPDPNTPMEETVRAMTHVINQG
MAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGA
MTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLG
CTLPQLAIAWCLRNEGVSSVLLGASNADQLMENIGAIQVLPKLSSSIIHEIDSILGNKPY
SKKDYRS

Sequence length

367

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels Neutrophil degranulation

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs202153711	RCV005931711
Clear cell carcinoma of kidney	Benign	rs111754266	RCV005906263
Familial cancer of breast	Benign	rs115915191	RCV005904782
KCNAB2-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	rs2229002, rs146277144, rs201665803, rs772137851, rs147130504, rs143477926, rs2525264584, rs538893523, rs2229004, rs529702052, rs530635823, rs535005730, rs2227911, rs111569439, rs115915191 View all (4 more)	RCV003976040 RCV003967542 RCV003954097 RCV003909286 RCV003907039 RCV003977127 RCV003967289 RCV003967327 RCV003914102 RCV003981250 RCV003919465 RCV003914385 RCV003976401 RCV003916188 RCV003930731 RCV003913081 RCV003977977 RCV003913116 RCV003913210
KCNAB2-related epilepsy	Uncertain significance	rs563117758	RCV004799640
Malignant tumor of esophagus	Likely benign	rs202153711	RCV005931710
Ovarian serous cystadenocarcinoma	Benign	rs115915191	RCV005904784
Sarcoma	Benign	rs115915191	RCV005904783
Thymoma	Likely benign	rs202153711	RCV005931712
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs202153711, rs115915191	RCV005931713 RCV005904785

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Inhibit	36359834
Brugada Syndrome	Associate	27287695
Carcinoma Renal Cell	Associate	36789694
Chromosome 1p36 Deletion Syndrome	Inhibit	11580756
Chronic Disease	Associate	11580756
Colorectal Neoplasms	Associate	36359834
Creutzfeldt Jakob Disease Sporadic	Associate	32918118
Diabetes Gestational	Associate	35721735
Epilepsy	Associate	11580756
Kidney Neoplasms	Associate	36789694
Neoplasms	Inhibit	36359834
Pituitary Neoplasms	Associate	24781529

KCNAB2 (potassium voltage-gated channel subfamily A regulatory beta subunit 2)