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Q9H252

- KCNH6_HUMAN

UniProt

Q9H252 - KCNH6_HUMAN

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Protein
Potassium voltage-gated channel subfamily H member 6
Gene
KCNH6, ERG2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying current By similarity. Channel properties may be modulated by cAMP and subunit assembly.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi594 – 711118cNMP
Add
BLAST

GO - Molecular functioni

  1. signal transducer activity Source: InterPro
  2. voltage-gated potassium channel activity Source: RefGenome

GO - Biological processi

  1. potassium ion transmembrane transport Source: RefGenome
  2. regulation of membrane potential Source: RefGenome
  3. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiREACT_75770. Voltage gated Potassium channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily H member 6
Alternative name(s):
Ether-a-go-go-related gene potassium channel 2
Short name:
ERG-2
Short name:
Eag-related protein 2
Short name:
Ether-a-go-go-related protein 2
Short name:
hERG-2
Short name:
hERG2
Voltage-gated potassium channel subunit Kv11.2
Gene namesi
Name:KCNH6
Synonyms:ERG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:18862. KCNH6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 261261Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei262 – 28221Helical; Name=Segment S1; Reviewed prediction
Add
BLAST
Topological domaini283 – 29816Extracellular Reviewed prediction
Add
BLAST
Transmembranei299 – 31921Helical; Name=Segment S2; Reviewed prediction
Add
BLAST
Topological domaini320 – 34021Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei341 – 36121Helical; Name=Segment S3; Reviewed prediction
Add
BLAST
Topological domaini362 – 3709Extracellular Reviewed prediction
Transmembranei371 – 39121Helical; Voltage-sensor; Name=Segment S4; Reviewed prediction
Add
BLAST
Topological domaini392 – 3987Cytoplasmic Reviewed prediction
Transmembranei399 – 41921Helical; Name=Segment S5; Reviewed prediction
Add
BLAST
Topological domaini420 – 46344Extracellular Reviewed prediction
Add
BLAST
Intramembranei464 – 48421Pore-forming; Name=Segment H5; Reviewed prediction
Add
BLAST
Topological domaini485 – 4906Extracellular Reviewed prediction
Transmembranei491 – 51121Helical; Name=Segment S6; Reviewed prediction
Add
BLAST
Topological domaini512 – 994483Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: RefGenome
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38722.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 994994Potassium voltage-gated channel subfamily H member 6
PRO_0000054013Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi449 – 4491N-linked (GlcNAc...) (complex)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9H252.
PRIDEiQ9H252.

PTM databases

PhosphoSiteiQ9H252.

Expressioni

Tissue specificityi

Expressed in prolactin-secreting adenomas.1 Publication

Gene expression databases

ArrayExpressiQ9H252.
BgeeiQ9H252.
CleanExiHS_KCNH6.
GenevestigatoriQ9H252.

Organism-specific databases

HPAiCAB006838.
CAB022674.

Interactioni

Subunit structurei

The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimers with KCNH2/ERG1 and KCNH7/ERG3 By similarity.

Protein-protein interaction databases

STRINGi9606.ENSP00000318212.

Structurei

3D structure databases

ProteinModelPortaliQ9H252.
SMRiQ9H252. Positions 1-164, 421-514, 522-716.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini41 – 7030PAS
Add
BLAST
Domaini92 – 14453PAC
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi476 – 4816Selectivity filter By similarity

Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2202.
HOGENOMiHOG000230793.
HOVERGENiHBG052232.
InParanoidiQ9H252.
KOiK04909.
OMAiMYPAFAD.
OrthoDBiEOG75B879.
PhylomeDBiQ9H252.
TreeFamiTF313130.

Family and domain databases

Gene3Di2.60.120.10. 2 hits.
InterProiIPR018490. cNMP-bd-like.
IPR000595. cNMP-bd_dom.
IPR005821. Ion_trans_dom.
IPR003938. K_chnl_volt-dep_EAG/ELK/ERG.
IPR003967. K_chnl_volt-dep_ERG.
IPR001610. PAC.
IPR000014. PAS.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 1 hit.
PF13426. PAS_9. 1 hit.
[Graphical view]
PRINTSiPR01463. EAGCHANLFMLY.
PR01470. ERGCHANNEL.
SMARTiSM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
PROSITEiPS50042. CNMP_BINDING_3. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Note: Experimental confirmation may be lacking for some isoforms.

Isoform 1 (identifier: Q9H252-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MPVRRGHVAP QNTYLDTIIR KFEGQSRKFL IANAQMENCA IIYCNDGFCE    50
LFGYSRVEVM QQPCTCDFLT GPNTPSSAVS RLAQALLGAE ECKVDILYYR 100
KDASSFRCLV DVVPVKNEDG AVIMFILNFE DLAQLLAKCS SRSLSQRLLS 150
QSFLGSEGSH GRPGGPGPGT GRGKYRTISQ IPQFTLNFVE FNLEKHRSSS 200
TTEIEIIAPH KVVERTQNVT EKVTQVLSLG ADVLPEYKLQ APRIHRWTIL 250
HYSPFKAVWD WLILLLVIYT AVFTPYSAAF LLSDQDESRR GACSYTCSPL 300
TVVDLIVDIM FVVDIVINFR TTYVNTNDEV VSHPRRIAVH YFKGWFLIDM 350
VAAIPFDLLI FRTGSDETTT LIGLLKTARL LRLVRVARKL DRYSEYGAAV 400
LFLLMCTFAL IAHWLACIWY AIGNVERPYL EHKIGWLDSL GVQLGKRYNG 450
SDPASGPSVQ DKYVTALYFT FSSLTSVGFG NVSPNTNSEK VFSICVMLIG 500
SLMYASIFGN VSAIIQRLYS GTARYHTQML RVKEFIRFHQ IPNPLRQRLE 550
EYFQHAWSYT NGIDMNAVLK GFPECLQADI CLHLHRALLQ HCPAFSGAGK 600
GCLRALAVKF KTTHAPPGDT LVHLGDVLST LYFISRGSIE ILRDDVVVAI 650
LGKNDIFGEP VSLHAQPGKS SADVRALTYC DLHKIQRADL LEVLDMYPAF 700
AESFWSKLEV TFNLRDAAGG LHSSPRQAPG SQDHQGFFLS DNQSGSPHEL 750
GPQFPSKGYS LLGPGSQNSM GAGPCAPGHP DAAPPLSISD ASGLWPELLQ 800
EMPPRHSPQS PQEDPDCWPL KLGSRLEQLQ AQMNRLESRV SSDLSRILQL 850
LQKPMPQGHA SYILEAPASN DLALVPIASE TTSPGPRLPQ GFLPPAQTPS 900
YGDLDDCSPK HRNSSPRMPH LAVATDKTLA PSSEQEQPEG LWPPLASPLH 950
PLEVQGLICG PCFSSLPEHL GSVPKQLDFQ RHGSDPGFAG SWGH 994
Length:994
Mass (Da):109,925
Last modified:March 1, 2001 - v1
Checksum:iBE9ECB349A798576
GO
Isoform 2 (identifier: Q9H252-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     419-472: WYAIGNVERPYLEHKIGWLDSLGVQLGKRYNGSDPASGPSVQDKYVTALYFTFS → C
     745-780: Missing.

Show »
Length:905
Mass (Da):100,450
Checksum:i0556E274946D2B7E
GO
Isoform 3 (identifier: Q9H252-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     501-502: SL → CE
     503-994: Missing.

Show »
Length:502
Mass (Da):56,298
Checksum:i6CBD9F336841809B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti165 – 1651G → R.
Corresponds to variant rs35399062 [ dbSNP | Ensembl ].
VAR_053857
Natural varianti925 – 9251T → M.1 Publication
Corresponds to variant rs35819807 [ dbSNP | Ensembl ].
VAR_053858

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei419 – 47254WYAIG…YFTFS → C in isoform 2.
VSP_000977Add
BLAST
Alternative sequencei501 – 5022SL → CE in isoform 3.
VSP_000979
Alternative sequencei503 – 994492Missing in isoform 3.
VSP_000980Add
BLAST
Alternative sequencei745 – 78036Missing in isoform 2.
VSP_000978Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti963 – 9631F → L in BAC03764. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF311913 mRNA. Translation: AAG40871.1.
AK090969 mRNA. Translation: BAC03559.1.
AK091877 mRNA. Translation: BAC03764.1.
BC006334 mRNA. Translation: AAH06334.1.
CCDSiCCDS11638.1. [Q9H252-1]
CCDS11639.1. [Q9H252-2]
RefSeqiNP_001265848.1. NM_001278919.1.
NP_001265849.1. NM_001278920.1.
NP_110406.1. NM_030779.3. [Q9H252-1]
NP_775115.1. NM_173092.2. [Q9H252-2]
UniGeneiHs.591177.

Genome annotation databases

EnsembliENST00000456941; ENSP00000396900; ENSG00000173826. [Q9H252-2]
ENST00000580652; ENSP00000464672; ENSG00000173826. [Q9H252-3]
ENST00000581784; ENSP00000463830; ENSG00000173826. [Q9H252-2]
ENST00000583023; ENSP00000463533; ENSG00000173826. [Q9H252-1]
GeneIDi81033.
KEGGihsa:81033.
UCSCiuc002jax.1. human. [Q9H252-3]
uc002jay.3. human. [Q9H252-1]
uc002jaz.1. human. [Q9H252-2]

Polymorphism databases

DMDMi26006810.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF311913 mRNA. Translation: AAG40871.1 .
AK090969 mRNA. Translation: BAC03559.1 .
AK091877 mRNA. Translation: BAC03764.1 .
BC006334 mRNA. Translation: AAH06334.1 .
CCDSi CCDS11638.1. [Q9H252-1 ]
CCDS11639.1. [Q9H252-2 ]
RefSeqi NP_001265848.1. NM_001278919.1.
NP_001265849.1. NM_001278920.1.
NP_110406.1. NM_030779.3. [Q9H252-1 ]
NP_775115.1. NM_173092.2. [Q9H252-2 ]
UniGenei Hs.591177.

3D structure databases

ProteinModelPortali Q9H252.
SMRi Q9H252. Positions 1-164, 421-514, 522-716.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000318212.

Chemistry

ChEMBLi CHEMBL2362996.
DrugBanki DB00308. Ibutilide.
GuidetoPHARMACOLOGYi 573.

PTM databases

PhosphoSitei Q9H252.

Polymorphism databases

DMDMi 26006810.

Proteomic databases

PaxDbi Q9H252.
PRIDEi Q9H252.

Protocols and materials databases

DNASUi 81033.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000456941 ; ENSP00000396900 ; ENSG00000173826 . [Q9H252-2 ]
ENST00000580652 ; ENSP00000464672 ; ENSG00000173826 . [Q9H252-3 ]
ENST00000581784 ; ENSP00000463830 ; ENSG00000173826 . [Q9H252-2 ]
ENST00000583023 ; ENSP00000463533 ; ENSG00000173826 . [Q9H252-1 ]
GeneIDi 81033.
KEGGi hsa:81033.
UCSCi uc002jax.1. human. [Q9H252-3 ]
uc002jay.3. human. [Q9H252-1 ]
uc002jaz.1. human. [Q9H252-2 ]

Organism-specific databases

CTDi 81033.
GeneCardsi GC17P061600.
HGNCi HGNC:18862. KCNH6.
HPAi CAB006838.
CAB022674.
MIMi 608168. gene.
neXtProti NX_Q9H252.
PharmGKBi PA38722.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2202.
HOGENOMi HOG000230793.
HOVERGENi HBG052232.
InParanoidi Q9H252.
KOi K04909.
OMAi MYPAFAD.
OrthoDBi EOG75B879.
PhylomeDBi Q9H252.
TreeFami TF313130.

Enzyme and pathway databases

Reactomei REACT_75770. Voltage gated Potassium channels.

Miscellaneous databases

GeneWikii KCNH6.
GenomeRNAii 81033.
NextBioi 71366.
PROi Q9H252.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H252.
Bgeei Q9H252.
CleanExi HS_KCNH6.
Genevestigatori Q9H252.

Family and domain databases

Gene3Di 2.60.120.10. 2 hits.
InterProi IPR018490. cNMP-bd-like.
IPR000595. cNMP-bd_dom.
IPR005821. Ion_trans_dom.
IPR003938. K_chnl_volt-dep_EAG/ELK/ERG.
IPR003967. K_chnl_volt-dep_ERG.
IPR001610. PAC.
IPR000014. PAS.
IPR014710. RmlC-like_jellyroll.
[Graphical view ]
Pfami PF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 1 hit.
PF13426. PAS_9. 1 hit.
[Graphical view ]
PRINTSi PR01463. EAGCHANLFMLY.
PR01470. ERGCHANNEL.
SMARTi SM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
[Graphical view ]
SUPFAMi SSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
PROSITEi PS50042. CNMP_BINDING_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human Eag-related gene member 2 (Herg2) potassium channel."
    Titus S.A., Ganetzky B.S.
    Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT MET-925.
    Tissue: Amygdala and Kidney.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Uterus.
  4. Cited for: TISSUE SPECIFICITY.
  5. Cited for: GLYCOSYLATION AT ASN-449.

Entry informationi

Entry nameiKCNH6_HUMAN
AccessioniPrimary (citable) accession number: Q9H252
Secondary accession number(s): Q9BRD7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: March 1, 2001
Last modified: September 3, 2014
This is version 129 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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