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KCNH7 potassium voltage-gated channel subfamily H member 7 [ Homo sapiens (human) ]

Gene ID: 90134, updated on 2-Oct-2018

Summary

Official Symbol
KCNH7provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily H member 7provided by HGNC
Primary source
HGNC:HGNC:18863
See related
Ensembl:ENSG00000184611 MIM:608169; Vega:OTTHUMG00000132069
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
ERG3; HERG3; Kv11.3
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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 1.6), testis (RPKM 0.5) and 3 other tissues See more
Orthologs

Genomic context

See KCNH7 in Genome Data Viewer
Location:
2q24.2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (162371407..162838817, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (163227917..163695257, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373724 Neighboring gene interferon induced with helicase C domain 1 Neighboring gene grancalcin Neighboring gene RNA, 5S ribosomal pseudogene 109 Neighboring gene uncharacterized LOC101929570 Neighboring gene ribosomal protein L7 pseudogene 61 Neighboring gene uncharacterized LOC105373727 Neighboring gene RNA, U6 small nuclear 627, pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog

Pathways from BioSystems

  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC45986

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
potassium voltage-gated channel subfamily H member 7
Names
ERG-3
eag-related protein 3
ether-a-go-go-related gene potassium channel 3
ether-a-go-go-related protein 3
potassium channel subunit HERG-3
potassium channel, voltage gated eag related subfamily H, member 7
voltage-gated potassium channel subunit Kv11.3

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.

Genomic

  1. NG_041938.1 RefSeqGene

    Range
    5001..472341
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_033272.3NP_150375.2  potassium voltage-gated channel subfamily H member 7 isoform 1

    See identical proteins and their annotated locations for NP_150375.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC007740, AC010876, AF032897, BC035815, DR002425
    Consensus CDS
    CCDS2219.1
    UniProtKB/Swiss-Prot
    Q9NS40
    Related
    ENSP00000331727.5, OTTHUMP00000162950, ENST00000332142.9, OTTHUMT00000255093
    Conserved Domains (6) summary
    COG0664
    Location:739876
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:745856
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    cd00130
    Location:41130
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00520
    Location:448671
    Ion_trans; Ion transport protein
    pfam07885
    Location:614668
    Ion_trans_2; Ion channel
    pfam13426
    Location:29134
    PAS_9; PAS domain
  2. NM_173162.2NP_775185.1  potassium voltage-gated channel subfamily H member 7 isoform 2

    See identical proteins and their annotated locations for NP_775185.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal in-frame coding exon and several 3' terminal exons but contains an alternate 3' terminal segment, as compared to variant 1. Isoform 2 is shorter and has a distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    BC035815, DR002425
    Consensus CDS
    CCDS2220.1
    UniProtKB/Swiss-Prot
    Q9NS40
    Related
    ENSP00000333781.4, OTTHUMP00000162951, ENST00000328032.8, OTTHUMT00000255094
    Conserved Domains (2) summary
    pfam00520
    Location:402664
    Ion_trans; Ion transport protein
    pfam13426
    Location:29134
    PAS_9; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    162371407..162838817 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005220.2XP_016860709.1  potassium voltage-gated channel subfamily H member 7 isoform X4

  2. XM_017005219.2XP_016860708.1  potassium voltage-gated channel subfamily H member 7 isoform X3

  3. XM_017005218.2XP_016860707.1  potassium voltage-gated channel subfamily H member 7 isoform X2

  4. XM_011512109.3XP_011510411.1  potassium voltage-gated channel subfamily H member 7 isoform X1

    Conserved Domains (6) summary
    COG0664
    Location:747884
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:753864
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    cd00130
    Location:41130
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00520
    Location:456679
    Ion_trans; Ion transport protein
    pfam07885
    Location:622676
    Ion_trans_2; Ion channel
    pfam13426
    Location:29134
    PAS_9; PAS domain
  5. XM_017005221.2XP_016860710.1  potassium voltage-gated channel subfamily H member 7 isoform X5

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