U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

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

    Gene ID: 3790, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    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
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See KCNS3 in Genome Data Viewer
    Location:
    2p24.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (17877847..17932958)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (17909623..17964710)
    RS_2024_09 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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues 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

    Go to the top of the pageHelp

    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

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See Variation Viewer (GRCh37.p13)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables potassium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    involved_in regulation of potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous