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KCNS3 potassium voltage-gated channel modifier subfamily S member 3 [ Homo sapiens (human) ]

Gene ID: 3790, updated on 11-Apr-2024

Summary

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Official Symbol
KCNS3provided by HGNC
Official Full Name
potassium voltage-gated channel modifier subfamily S member 3provided by HGNC
Primary source
HGNC:HGNC:6302
See related
Ensembl:ENSG00000170745 MIM:603888; AllianceGenome:HGNC:6302
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
KV9.3
Summary
Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
Expression
Broad expression in lung (RPKM 12.4), placenta (RPKM 5.3) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
2p24.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (17877847..17932958)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (17909623..17964710)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (18059114..18114225)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112267888 Neighboring gene uncharacterized LOC124907737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11194 Neighboring gene zona pellucida glycoprotein AX, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:18198381-18199030 Neighboring gene small nucleolar RNA SNORA40 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:18228711-18229910 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:18256560-18256766 Neighboring gene uncharacterized LOC105373451

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Lower gene expression for KCNS3 potassium channel subunit in parvalbumin-containing neurons in the prefrontal cortex in schizophrenia. Georgiev D, et al. Am J Psychiatry, 2014 Jan. PMID 24170294, Free PMC Article
  2. Expression of an electrically silent voltage-gated potassium channel in the human placenta. Fyfe GK, et al. J Obstet Gynaecol, 2012 Oct. PMID 22943705
  3. Single-nucleotide polymorphisms of the KCNS3 gene are significantly associated with airway hyperresponsiveness. Hao K, et al. Hum Genet, 2005 Apr. PMID 15714333
  4. Stromatoxin-sensitive, heteromultimeric Kv2.1/Kv9.3 channels contribute to myogenic control of cerebral arterial diameter. Zhong XZ, et al. J Physiol, 2010 Nov 15. PMID 20876197, Free PMC Article
  5. Fluorescence measurements reveal stoichiometry of K+ channels formed by modulatory and delayed rectifier alpha-subunits. Kerschensteiner D, et al. Proc Natl Acad Sci U S A, 2005 Apr 26. PMID 15827117, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease.
    Title: Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease.
  2. By in situ hybridization, KCNS3 mRNA levels were 23% lower in schizophrenia subjects than in controls. At the cellular level, both KCNS3 mRNA-expressing neuron density and KCNS3 mRNA level per neuron were significantly lower.
    Title: Lower gene expression for KCNS3 potassium channel subunit in parvalbumin-containing neurons in the prefrontal cortex in schizophrenia.
  3. study concluded that potassium voltage-gated channel K(V)9.3 is localised to human placental vascular tissues and syncytiotrophoblast
    Title: Expression of an electrically silent voltage-gated potassium channel in the human placenta.
  4. stromatoxin-1 -sensitive KV2-containing channels are expressed in detrusor smooth muscle (DSM); they control DSM excitability, intracellular Ca2+ levels, and myogenic and nerve-evoked contractions
    Title: Expression and function of K(V)2-containing channels in human urinary bladder smooth muscle.
  5. There is evidence of heteromultimeric Kv2.1/Kv9.3 channel expression in control of middle cerebral arterial diameter.
    Title: Stromatoxin-sensitive, heteromultimeric Kv2.1/Kv9.3 channels contribute to myogenic control of cerebral arterial diameter.
  6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: A high-density association screen of 155 ion transport genes for involvement with common migraine.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Single-nucleotide polymorphisms of the KCNS3 gene are significantly associated with airway hyperresponsiveness.
  8. formation of heteromeric Kv2.1/Kv9.3 channels of fixed stoichiometry consisting of three Kv2.1 subunits and one Kv9.3 subunit
    Title: Fluorescence measurements reveal stoichiometry of K+ channels formed by modulatory and delayed rectifier alpha-subunits.
  9. Our findings suggest that SNPs located at the 3' downstream region of KCNS3 have a significant role in the etiology of AHR.
    Title: Single-nucleotide polymorphisms of the KCNS3 gene are significantly associated with airway hyperresponsiveness.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC9481

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables delayed rectifier potassium channel activity TAS
Traceable Author Statement
more info
 PubMed 
enables potassium channel regulator activity TAS
Traceable Author Statement
more info
 PubMed 
enables voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in action potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
potassium voltage-gated channel subfamily S member 3
Names
Shab-related delayed-rectifier K+ channel alpha subunit 3
delayed-rectifier K(+) channel alpha subunit 3
potassium voltage-gated channel delayed-rectifier protein S3
potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3
voltage-gated potassium channel protein Kv9.3
voltage-gated potassium channel subunit Kv9.3

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_012873.2 RefSeqGene

    Range
    5822..60113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282428.2 → NP_001269357.1  potassium voltage-gated channel subfamily S member 3

    See identical proteins and their annotated locations for NP_001269357.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' terminal exon, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC093731
    Consensus CDS
    CCDS1692.1
    UniProtKB/Swiss-Prot
    D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31
    Related
    ENSP00000385968.1, ENST00000403915.5
    Conserved Domains (4) summary
    smart00225
    Location:44 → 122
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:219 → 417
    Ion_trans; Ion transport protein
    pfam02214
    Location:17 → 116
    BTB_2; BTB/POZ domain
    pfam07885
    Location:329 → 411
    Ion_trans_2; Ion channel

  2. NM_002252.5 → NP_002243.3  potassium voltage-gated channel subfamily S member 3

    See identical proteins and their annotated locations for NP_002243.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variant 2 encode the same protein.
    Source sequence(s)
    AC093731
    Consensus CDS
    CCDS1692.1
    UniProtKB/Swiss-Prot
    D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31
    Related
    ENSP00000305824.4, ENST00000304101.9
    Conserved Domains (4) summary
    smart00225
    Location:44 → 122
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:219 → 417
    Ion_trans; Ion transport protein
    pfam02214
    Location:17 → 116
    BTB_2; BTB/POZ domain
    pfam07885
    Location:329 → 411
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    17877847..17932958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532825.2 → XP_011531127.1  potassium voltage-gated channel subfamily S member 3 isoform X1

    See identical proteins and their annotated locations for XP_011531127.1

    UniProtKB/Swiss-Prot
    D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31
    Conserved Domains (4) summary
    smart00225
    Location:44 → 122
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:219 → 417
    Ion_trans; Ion transport protein
    pfam02214
    Location:17 → 116
    BTB_2; BTB/POZ domain
    pfam07885
    Location:329 → 411
    Ion_trans_2; Ion channel

  2. XM_047444255.1 → XP_047300211.1  potassium voltage-gated channel subfamily S member 3 isoform X1

    UniProtKB/Swiss-Prot
    D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    17909623..17964710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341943.1 → XP_054197918.1  potassium voltage-gated channel subfamily S member 3 isoform X1

    UniProtKB/Swiss-Prot
    D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31

  2. XM_054341942.1 → XP_054197917.1  potassium voltage-gated channel subfamily S member 3 isoform X1

    UniProtKB/Swiss-Prot
    D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BQ31.3 GenPept UniProtKB/Swiss-Prot:Q9BQ31

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