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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8514
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium voltage-gated channel subfamily A regulatory beta subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNAB2
Synonyms (NCBI Gene) Gene synonyms aliases	AKR6A5, HKvbeta2, HKvbeta2.1, HKvbeta2.2, KCNA2B, KV-BETA-2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

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(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004033	Function	Aldo-keto reductase (NADP) activity	IBA	21873635
GO:0004033	Function	Aldo-keto reductase (NADP) activity	ISS
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005829	Component	Cytosol	ISS
GO:0005874	Component	Microtubule	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0008076	Component	Voltage-gated potassium channel complex	IBA	21873635
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11086297
GO:0015459	Function	Potassium channel regulator activity	IBA	21873635
GO:0015459	Function	Potassium channel regulator activity	IDA	7649300
GO:0016020	Component	Membrane	IDA	11086297
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IBA	21873635
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	ISS
GO:0035579	Component	Specific granule membrane	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0044224	Component	Juxtaparanode region of axon	IBA	21873635
GO:0044224	Component	Juxtaparanode region of axon	IDA	11086297
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0044325	Function	Ion channel binding	IBA	21873635
GO:0045202	Component	Synapse	IEA
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0070995	Process	NADPH oxidation	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0098900	Process	Regulation of action potential	IBA	21873635
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IBA	21873635
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	7649300
GO:1990031	Component	Pinceau fiber	ISS
GO:2000008	Process	Regulation of protein localization to cell surface	ISS

MIM	HGNC	e!Ensembl
601142	6229	ENSG00000069424

Protein

UniProt ID

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 Causal Diseases (22)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cardiomyopathy	Cardiomyopathy, Dilated	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377 View all (900 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Epilepsy	Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670 View all (165 more)	11580756
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Neuroblastoma	Neuroblastoma	rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Ocular albinism	Albinism, Ocular	rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
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)