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KCNH6 potassium voltage-gated channel subfamily H member 6 [ Homo sapiens (human) ]

Gene ID: 81033, updated on 3-Apr-2024

Summary

Official Symbol
KCNH6provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily H member 6provided by HGNC
Primary source
HGNC:HGNC:18862
See related
Ensembl:ENSG00000173826 MIM:608168; AllianceGenome:HGNC:18862
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
ERG2; ERG-2; HERG2; Kv11.2; hERG-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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
Expression
Biased expression in kidney (RPKM 3.1), small intestine (RPKM 1.8) and 4 other tissues See more
Orthologs
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Genomic context

See KCNH6 in Genome Data Viewer
Location:
17q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63523358..63548992)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64393673..64419606)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61600719..61626353)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61563854-61564354 Neighboring gene angiotensin I converting enzyme Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12546 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:61594037-61595236 Neighboring gene angiotensin I converting enzyme 3, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61611272-61611775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:61626768-61627752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8820 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:61640093-61640313 Neighboring gene DDB1 and CUL4 associated factor 7 Neighboring gene RNA, U6 small nuclear 288, pseudogene Neighboring gene translational activator of cytochrome c oxidase I

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

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in membrane repolarization during cardiac muscle cell 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 regulation of heart rate by cardiac conduction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of ventricular cardiac muscle cell membrane repolarization IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
potassium voltage-gated channel subfamily H member 6
Names
eag-related gene member 2
ether-a-go-go-related protein 2
potassium channel, voltage gated eag related subfamily H, member 6
potassium voltage-gated channel, subfamily H (eag-related), member 6
voltage-gated potassium channel subunit Kv11.2

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001278919.2NP_001265848.1  potassium voltage-gated channel subfamily H member 6 isoform 3

    See identical proteins and their annotated locations for NP_001265848.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 3, which is shorter, compared to isoform 1.
    Source sequence(s)
    AA825356, AK090969, AK296498, BE465143, BM561167, CD632730, DB147394, DB506421
    Consensus CDS
    CCDS62290.1
    UniProtKB/TrEMBL
    B4DKC0, J9JID4
    Related
    ENSP00000318212.5, ENST00000314672.10
    Conserved Domains (6) summary
    COG0664
    Location:588704
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:594705
    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:41132
    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:296520
    Ion_trans; Ion transport protein
    pfam07885
    Location:463517
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain
  2. NM_001278920.2NP_001265849.1  potassium voltage-gated channel subfamily H member 6 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, uses a downstream start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (4) has a shorter N-terminus and is shorter, compared to isoform 1.
    Source sequence(s)
    AA825356, AK090969, AK298363, BE465143, CD632730, DB506421
    UniProtKB/TrEMBL
    B4DPJ3
    Conserved Domains (4) summary
    COG0664
    Location:465581
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:471582
    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 ...
    pfam00520
    Location:173397
    Ion_trans; Ion transport protein
    pfam07885
    Location:340394
    Ion_trans_2; Ion channel
  3. NM_030779.4NP_110406.1  potassium voltage-gated channel subfamily H member 6 isoform 1

    See identical proteins and their annotated locations for NP_110406.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA825356, AF311913, BE465143, CD632730, DB147394, DB506421
    Consensus CDS
    CCDS11638.1
    UniProtKB/Swiss-Prot
    Q9BRD7, Q9H252
    UniProtKB/TrEMBL
    B4DKC0
    Related
    ENSP00000463533.1, ENST00000583023.1
    Conserved Domains (6) summary
    COG0664
    Location:588704
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:594705
    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:41132
    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:296520
    Ion_trans; Ion transport protein
    pfam07885
    Location:463517
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain
  4. NM_173092.4NP_775115.1  potassium voltage-gated channel subfamily H member 6 isoform 2

    See identical proteins and their annotated locations for NP_775115.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment and an alternate in-frame exon but includes an alternate 3' terminal exon with an alternate 3' UTR, compared to variant 1. It encodes isoform 2, which is shorter, compared to isoform 1.
    Source sequence(s)
    AC113554, AK091877, CD632730
    Consensus CDS
    CCDS11639.1
    UniProtKB/TrEMBL
    B4DKC0
    Related
    ENSP00000463830.1, ENST00000581784.5
    Conserved Domains (6) summary
    COG0664
    Location:535651
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:541652
    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:41132
    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:296467
    Ion_trans; Ion transport protein
    pfam07885
    Location:393464
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    63523358..63548992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025175.2XP_016880664.1  potassium voltage-gated channel subfamily H member 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BRD7, Q9H252
    UniProtKB/TrEMBL
    B4DKC0
    Conserved Domains (6) summary
    COG0664
    Location:588704
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:594705
    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:41132
    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:296520
    Ion_trans; Ion transport protein
    pfam07885
    Location:463517
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain
  2. XM_017025177.2XP_016880666.1  potassium voltage-gated channel subfamily H member 6 isoform X3

    UniProtKB/TrEMBL
    B4DKC0, J9JID4
    Conserved Domains (6) summary
    COG0664
    Location:588704
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:594705
    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:41132
    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:296520
    Ion_trans; Ion transport protein
    pfam07885
    Location:463517
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain
  3. XM_047436856.1XP_047292812.1  potassium voltage-gated channel subfamily H member 6 isoform X11

  4. XM_017025176.3XP_016880665.1  potassium voltage-gated channel subfamily H member 6 isoform X2

    UniProtKB/TrEMBL
    B4DKC0
  5. XM_017025178.3XP_016880667.1  potassium voltage-gated channel subfamily H member 6 isoform X4

    UniProtKB/TrEMBL
    B4DKC0
  6. XM_017025179.3XP_016880668.1  potassium voltage-gated channel subfamily H member 6 isoform X5

    UniProtKB/TrEMBL
    B4DKC0
  7. XM_011525310.3XP_011523612.1  potassium voltage-gated channel subfamily H member 6 isoform X9

    See identical proteins and their annotated locations for XP_011523612.1

    UniProtKB/TrEMBL
    B4DKC0
    Related
    ENSP00000396900.2, ENST00000456941.6
    Conserved Domains (6) summary
    COG0664
    Location:535651
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:541652
    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:41132
    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:296467
    Ion_trans; Ion transport protein
    pfam07885
    Location:393464
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain
  8. XM_047436854.1XP_047292810.1  potassium voltage-gated channel subfamily H member 6 isoform X6

  9. XM_047436855.1XP_047292811.1  potassium voltage-gated channel subfamily H member 6 isoform X10

  10. XM_017025180.3XP_016880669.1  potassium voltage-gated channel subfamily H member 6 isoform X12

    UniProtKB/TrEMBL
    B4DPJ3
  11. XM_011525309.3XP_011523611.1  potassium voltage-gated channel subfamily H member 6 isoform X8

    UniProtKB/TrEMBL
    B4DKC0
    Conserved Domains (6) summary
    COG0664
    Location:588704
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:594705
    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:41132
    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:296520
    Ion_trans; Ion transport protein
    pfam07885
    Location:463517
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain
  12. XM_011525308.3XP_011523610.1  potassium voltage-gated channel subfamily H member 6 isoform X7

    UniProtKB/TrEMBL
    B4DKC0
    Conserved Domains (6) summary
    COG0664
    Location:588704
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:594705
    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:41132
    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:296520
    Ion_trans; Ion transport protein
    pfam07885
    Location:463517
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain
  13. XM_011525311.2XP_011523613.1  potassium voltage-gated channel subfamily H member 6 isoform X13

    Conserved Domains (6) summary
    COG0664
    Location:588724
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:594705
    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:41132
    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:296520
    Ion_trans; Ion transport protein
    pfam07885
    Location:463517
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain
  14. XM_011525312.2XP_011523614.1  potassium voltage-gated channel subfamily H member 6 isoform X14

    Conserved Domains (6) summary
    COG0664
    Location:588704
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:594705
    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:41132
    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:296520
    Ion_trans; Ion transport protein
    pfam07885
    Location:463517
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain
  15. XM_011525313.2XP_011523615.1  potassium voltage-gated channel subfamily H member 6 isoform X15

    Conserved Domains (6) summary
    COG0664
    Location:588704
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:594705
    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:41132
    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:296520
    Ion_trans; Ion transport protein
    pfam07885
    Location:463517
    Ion_trans_2; Ion channel
    pfam13426
    Location:29132
    PAS_9; PAS domain

RNA

  1. XR_934568.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    64393673..64419606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317425.1XP_054173400.1  potassium voltage-gated channel subfamily H member 6 isoform X1

  2. XM_054317427.1XP_054173402.1  potassium voltage-gated channel subfamily H member 6 isoform X3

  3. XM_054317426.1XP_054173401.1  potassium voltage-gated channel subfamily H member 6 isoform X2

  4. XM_054317428.1XP_054173403.1  potassium voltage-gated channel subfamily H member 6 isoform X4

  5. XM_054317429.1XP_054173404.1  potassium voltage-gated channel subfamily H member 6 isoform X5

  6. XM_054317433.1XP_054173408.1  potassium voltage-gated channel subfamily H member 6 isoform X9

  7. XM_054317430.1XP_054173405.1  potassium voltage-gated channel subfamily H member 6 isoform X6

  8. XM_054317434.1XP_054173409.1  potassium voltage-gated channel subfamily H member 6 isoform X10

  9. XM_054317436.1XP_054173411.1  potassium voltage-gated channel subfamily H member 6 isoform X12

  10. XM_054317435.1XP_054173410.1  potassium voltage-gated channel subfamily H member 6 isoform X11

  11. XM_054317432.1XP_054173407.1  potassium voltage-gated channel subfamily H member 6 isoform X8

  12. XM_054317431.1XP_054173406.1  potassium voltage-gated channel subfamily H member 6 isoform X7

  13. XM_054317437.1XP_054173412.1  potassium voltage-gated channel subfamily H member 6 isoform X13

  14. XM_054317438.1XP_054173413.1  potassium voltage-gated channel subfamily H member 6 isoform X14

  15. XM_054317439.1XP_054173414.1  potassium voltage-gated channel subfamily H member 6 isoform X15

RNA

  1. XR_008484947.1 RNA Sequence