• Gene id: 8514

Gene Summary

• Gene Symbol: KCNAB2   Gene   UCSC   Ensembl
• Aliases: AKR6A5, HKvbeta2, HKvbeta2.1, HKvbeta2.2, KCNA2B, KV-BETA-2
• Gene name: potassium voltage-gated channel subfamily A regulatory beta subunit 2
• Alternate names: voltage-gated potassium channel subunit beta-2, K(+) channel subunit beta-2, potassium channel, voltage gated subfamily A regulatory beta subunit 2, potassium voltage-gated channel, shaker-related subfamily, beta member 2,
• Gene location: 1p36.31 (5992638: 6101185)     Exons: 21     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 602658

Protein Summary

• Protein general information: Q13303  
  • Name: Voltage gated potassium channel subunit beta 2 (EC 1.1.1. ) (K(+) channel subunit beta 2) (Kv beta 2) (hKvbeta2)
  • Length: 367  
  • Mass: 41000
  • 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
• Sequence:

  MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTL
  AYDNGINLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLE
  YVDVVFANRPDPNTPMEETVRAMTHVINQGMAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKV
  EVQLPELFHKIGVGAMTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLG
  CTLPQLAIAWCLRNEGVSSVLLGASNADQLMENIGAIQVLPKLSSSIIHEIDSILGNKPYSKKDYRS

• Structural information:
  • Interpro: IPR005983  IPR005399  IPR005401  IPR023210  IPR036812  
  • CDD: cd06660
  • PDB: 1ZSX
  • PDBsum: 1ZSX
  • STRING: ENSP00000367323
• Other Databases: GeneCards:  KCNAB2  Malacards:  KCNAB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098900	regulation of action potential	IBA	biological process
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0044325	ion channel binding	IBA	molecular function
GO:1901379	regulation of potassium ion transmembrane transport	IBA	biological process
GO:0044224	juxtaparanode region of axon	IBA	cellular component
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IBA	cellular component
GO:0015459	potassium channel regulator activity	IBA	molecular function
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0004033	aldo-keto reductase (NADP) activity	IBA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0044224	juxtaparanode region of axon	IDA	cellular component
GO:1901379	regulation of potassium ion transmembrane transport	IDA	biological process
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:2000008	regulation of protein localization to cell surface	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0070995	NADPH oxidation	ISS	biological process
GO:0055114	oxidation-reduction process	ISS	biological process
GO:1990031	pinceau fiber	ISS	cellular component
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	ISS	cellular component
GO:0005874	microtubule	ISS	colocalizes with
GO:0004033	aldo-keto reductase (NADP) activity	ISS	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0030424	axon	IEA	cellular component
GO:0050905	neuromuscular process	IEA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0044224	juxtaparanode region of axon	IEA	cellular component
GO:0044224	juxtaparanode region of axon	ISS	cellular component
GO:0030424	axon	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq