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KCNB2 potassium voltage-gated channel subfamily B member 2 [ Homo sapiens (human) ]

Gene ID: 9312, updated on 13-Mar-2020

Summary

Official Symbol
KCNB2provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily B member 2provided by HGNC
Primary source
HGNC:HGNC:6232
See related
Ensembl:ENSG00000182674 MIM:607738
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KV2.2
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, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See KCNB2 in Genome Data Viewer
Location:
8q21.11
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (72537225..72945890)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (73449626..73850584)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) pseudogene Neighboring gene uncharacterized LOC105375897 Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene HAUS augmin like complex subunit 1 pseudogene 3 Neighboring gene uncharacterized LOC101926908 Neighboring gene RNA, U6 small nuclear 285, pseudogene Neighboring gene telomeric repeat binding factor 1 Neighboring gene somatomedin B and thrombospondin type 1 domain containing

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
Common genetic variation and performance on standardized cognitive tests.
NHGRI GWA Catalog
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
delayed rectifier potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of smooth muscle contraction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
potassium voltage-gated channel subfamily B member 2
Names
delayed rectifier potassium channel protein
potassium channel Kv2.2
potassium channel, voltage gated Shab related subfamily B, member 2
potassium voltage-gated channel, Shab-related subfamily, member 2
voltage-gated potassium channel subunit Kv2.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004770.3NP_004761.2  potassium voltage-gated channel subfamily B member 2

    See identical proteins and their annotated locations for NP_004761.2

    Status: REVIEWED

    Source sequence(s)
    AC011131, AC022893
    Consensus CDS
    CCDS6209.1
    UniProtKB/Swiss-Prot
    Q92953
    Related
    ENSP00000430846.1, ENST00000523207.2
    Conserved Domains (5) summary
    smart00225
    Location:37143
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:230428
    Ion_trans; Ion transport protein
    pfam02214
    Location:37136
    BTB_2; BTB/POZ domain
    pfam03521
    Location:471759
    Kv2channel; Kv2 voltage-gated K+ channel
    pfam07885
    Location:341422
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    72537225..72945890
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013981.1XP_016869470.1  potassium voltage-gated channel subfamily B member 2 isoform X1

  2. XM_017013982.1XP_016869471.1  potassium voltage-gated channel subfamily B member 2 isoform X1

RNA

  1. XR_001745621.1 RNA Sequence

  2. XR_001745620.1 RNA Sequence

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