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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNK7 Gene

protein-coding   GIFtS: 51
GCID: GC11M065360

Potassium Channel, Subfamily K, Member 7

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Potassium Channel, Subfamily K, Member 71 2
K2p7.12
TWIK32
Potassium Channel Subfamily K Member 72
Two Pore Domain K+ Channel2

External Ids:    HGNC: 62821   Entrez Gene: 100892   Ensembl: ENSG000001733387   OMIM: 6039405   UniProtKB: Q9Y2U23   

Export aliases for KCNK7 gene to outside databases

Previous GC identifers: GC11M067876 GC11M067042 GC11M065610 GC11M065136 GC11M065139 GC11M065116 GC11M061687


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNK7 Gene:
This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains.
The product of this gene has not been shown to be a functional channel; however, it may require other
non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNK7 Gene: 
KCNK7 (potassium channel, subfamily K, member 7) is a protein-coding gene. Diseases associated with KCNK7 include maturity-onset diabetes of the young, and cholera, and among its related super-pathways are Melatonin Signaling and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated ion channel activity and potassium channel activity. An important paralog of this gene is KCNK15.

UniProtKB/Swiss-Prot: KCNK7_HUMAN, Q9Y2U2
Function: Probable potassium channel subunit. No channel activity observed in vitro as protein remains in the
endoplasmic reticulum. May need to associate with an as yet unknown partner in order to reach the plasma membrane

Gene Wiki entry for KCNK7 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNK7 gene promoter:
         E2F-3a   NF-1   NF-1/L   p53   AP-1   E2F-2   E47   E2F   E2F-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNK7 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNK7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNK7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

KCNK7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNK7 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M065360:  view genomic region     (about GC identifiers)

Start:
65,360,326 bp from pter      End:
65,363,467 bp from pter
Size:
3,142 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KCNK7_HUMAN, Q9Y2U2 (See protein sequence)
Recommended Name: Potassium channel subfamily K member 7  
Size: 307 amino acids; 31947 Da
Subunit: Homodimer (Potential)
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q3SYI2 Q9Y2U3 Q9Y2U4
Alternative splicing: 3 isoforms:  Q9Y2U2-1   Q9Y2U2-2   Q9Y2U2-3   

Explore the universe of human proteins at neXtProt for KCNK7: NX_Q9Y2U2

Explore proteomics data for KCNK7 at MOPED 

KCNK7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

KCNK7 Protein Expression

REFSEQ proteins (4 alternative transcripts): 
NP_005705.1  NP_203133.1  NP_203134.1  NP_258416.1  

ENSEMBL proteins: 
 ENSP00000343923   ENSP00000377765   ENSP00000377764   ENSP00000344820   ENSP00000431950  
 ENSP00000435449  
Reactome Protein details: Q9Y2U2
Human Recombinant Protein Products for KCNK7: 
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Cloud-Clone Corp. Proteins for KCNK7 

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane TAS--
GO:0016020membrane ----
GO:0016021integral to membrane IEA--

KCNK7 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
KCN: Potassium channels
KCNK: Voltage-gated ion channels / Potassium channels, Two-P

IUPHAR Guide to PHARMACOLOGY protein family classification: K2P7.1 
Two-P potassium channels

4 InterPro protein domains:
 IPR003280 2pore_dom_K_chnl
 IPR022306 2pore_dom_K_chnl_TASK/TWIK
 IPR005408 2pore_dom_K_chnl_TWIK
 IPR013099 Ion_trans_2

Graphical View of Domain Structure for InterPro Entry Q9Y2U2

ProtoNet protein and cluster: Q9Y2U2

3 Blocks protein domains:
IPB003280 Two pore domain K+ channel signature
IPB005408 TWIK-1/TWIK-2 K+ channel family signature
IPB013099 Ion transport 2


UniProtKB/Swiss-Prot: KCNK7_HUMAN, Q9Y2U2
Similarity: Belongs to the two pore domain potassium channel (TC 1.A.1.8) family


KCNK7 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: KCNK7_HUMAN, Q9Y2U2
Function: Probable potassium channel subunit. No channel activity observed in vitro as protein remains in the
endoplasmic reticulum. May need to associate with an as yet unknown partner in order to reach the plasma membrane

     Genatlas biochemistry entry for KCNK7:
potassium non voltage gated,weakly inwardly rectifying subfamily K,member 7

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005244voltage-gated ion channel activity IEA--
GO:0005267potassium channel activity IEA--
     
KCNK7 for ontologies           About GeneDecksing


Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Kcnk7):
 normal 

KCNK7 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Kcnk7tm1Dgen for KCNK7

   inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNK7 
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for KCNK7 About   (see all 8)                                                                                              See pathways by source

SuperPathContained pathways About
1Sweet Taste Signaling
Sweet Taste Signaling0.72
Bitter Taste Signaling0.44
Melatonin Signaling0.72
Sperm Motility0.37
Cellular Effects of Sildenafil0.46
2Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA0.77
PKA Signaling0.56
cAMP Pathway0.77
3Neuropathic Pain-Signaling in Dorsal Horn Neurons
Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
Cholera Infection0.40
Aldosterone Signaling in Epithelial Cells0.47
4Hepatic ABC Transporters
Hepatic ABC Transporters0.41
MODY (Maturity-Onset Diabetes of Young)0.41
5Transmission across Chemical Synapses
Neuronal System0.67

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KCNK7 (see all 13)
    Cholera Infection
Neuropathic Pain-Signaling in Dorsal Horn Neurons
Hepatic ABC Transporters
PKA Signaling
Sweet Taste Signaling

4        Reactome Pathways for KCNK7
    Potassium Channels
Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK)
Neuronal System
Tandem pore domain potassium channels



KCNK7 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCNK7

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006813potassium ion transport TAS10206991
GO:0007268synaptic transmission TAS--
GO:0071805potassium ion transmembrane transport ----

KCNK7 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Compounds for KCNK7 available from Tocris Bioscience    About this table
CompoundAction CAS #
Cesium chloridePotassium channel blocker; neuroprotective[7647-17-8]
YS-035 hydrochlorideInhibits K+ outward/pacemaker current[33978-72-2]
BL 1249Putative K2P2.1 (TREK-1) channel opener[18200-13-0]
DMP 543K+ channel blocker and potent ACh release enhancer[160588-45-4]
Tetraethylammonium chlorideNon-selective K+ channel blocker[56-34-8]

Search CenterWatch for drugs/clinical trials and news about KCNK7

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KCNK7 gene (5 alternative transcripts): 
NM_005714.1  NM_033347.1  NM_033348.1  NM_033455.1  NM_033456.1  

Unigene Cluster for KCNK7:

Potassium channel, subfamily K, member 7
Hs.175218  [show with all ESTs]
Unigene Representative Sequence: NM_005714
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000342202 ENST00000394217(uc001oeq.3) ENST00000394216(uc001oer.3 uc001oeu.3)
ENST00000340313(uc001oes.3) ENST00000530380 ENST00000525254
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Additional mRNA sequence: 

AF110522.1 AF110523.1 AF110524.1 BC103809.1 BC103810.2 BC103811.2 

5 DOTS entries:

DT.92417230  DT.100019259  DT.92417227  DT.40197253  DT.305761 

17 AceView cDNA sequences:

NM_005714 NM_033456 NM_033348 NM_033347 AF110524 AF110523 NM_033455 AF110522 
AW207001 BE669661 AI824092 AI435272 AI760119 AI559875 BX094943 AA777982 
R24416 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for KCNK7    About this scheme

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d
SP1:                                                      
SP2:                          -                           
SP3:                                                      
SP4:                                -                     


ECgene alternative splicing isoforms for KCNK7

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KCNK7 expression in normal human tissues (normalized intensities)      KCNK7 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
KCNK7 Expression
About this image


KCNK7 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/1 selected tissues (see all 1) fully expand
 
 Adipose (Muscoskeletal System)
         Visceral White Adipose

 -- (Integumentary System)
         skin   

See KCNK7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNK7

SOURCE GeneReport for Unigene cluster: Hs.175218
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KCNK7 gene from 3/8 species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Kcnk71 , 5 potassium channel, subfamily K, member 71, 5 80.79(n)1
80.13(a)1
  19 (4.34 cM)5
165301  NM_010609.21  NP_034739.21 
 57043675 
zebrafish
(Danio rerio)
Actinopterygii KCNK76
CR769785.16
Uncharacterized protein
34(a)
24(a)
1 ↔ 1
possible ortholog
7(19219912-19226504)
13(49262139-49262480)
worm
(Caenorhabditis elegans)
Secernentea twk-466
Protein TWK-46, isoform a
21(a)
1 → many
V(19060180-19066960)


ENSEMBL Gene Tree for KCNK7 (if available)
TreeFam Gene Tree for KCNK7 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for KCNK7 gene
KCNK152  KCNK52  KCNK162  KCNK32  KCNK122  KCNK92  KCNK62  KCNK22  
KCNK102  KCNK172  KCNK42  KCNK132  KCNK12  
2 SIMAP similar genes for KCNK7 using alignment to 5 protein entries:     KCNK7_HUMAN (see all proteins):
KCNK1    KCNK6

KCNK7 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/187 SNPs in KCNK7 are shown (see all 187)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs47871,2
C,F,A--65280587(-) GCCCTA/GTACGG 4 -- ds50014Minor allele frequency- G:0.27NA 126
rs1826806641,2
--65280756(+) CTTGCC/TCTCCT 4 -- ds50010--------
rs342789121,2
C,F--65280920(+) GGCCAG/ACGGAG 4 -- ds50015Minor allele frequency- A:0.13NA WA EA 362
rs1867672151,2
--65280996(+) AAATAA/GCCGAA 4 -- ds50010--------
rs25100771,2
C,H--65281033(+) TATCCA/C/TCTGAG 8 -- ut3113NA WA CSA EA 378
rs1392287391,2
C--65281050(+) CGCCC-/ACCCT 
        
CACCG
4 -- ut310--------
rs562051341,2
--65281059(+) TCACCA/GCGGCT 4 -- ut310--------
rs1839767051,2
C--65281124(+) CACCTC/TACGGA 4 -- ut310--------
rs1505243901,2
C,F--65281166(+) CAGGGG/CCTTGT 5 /A /G ut31 mis11Minor allele frequency- C:0.00NA 4264
rs2004896451,2
--65281170(+) GGCTTG/TTCCTG 5 K Q ut31 mis10--------

HapMap Linkage Disequilibrium report for KCNK7 (65360326 - 65363467 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/12 variations for KCNK7 (see all 12):    About this table     
Variant IDTypeSubtypePubMed ID
nsv897723CNV Loss21882294
dgv1175n71CNV Loss21882294
nsv897739CNV Loss21882294
dgv1180n71CNV Loss21882294
nsv897736CNV Loss21882294
nsv897730CNV Loss21882294
dgv1176n71CNV Loss21882294
dgv1181n71CNV Loss21882294
dgv1179n71CNV Loss21882294
nsv897718CNV Loss21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 603940    OMIM disorders: --

4 diseases for KCNK7:    About MalaCards
maturity-onset diabetes of the young    cholera    hepatitis    neuronitis


KCNK7 for disorders           About GeneDecksing


Export disorders for KCNK7 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for KCNK7 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KCNK7)
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  1. Cloning of a new mouse two-P domain channel subunit and a human homologue with a unique pore structure. (PubMed id 10206991)1, 2, 3, 9 Salinas M....Lazdunski M. (1999)
  2. International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels. (PubMed id 16382106)1, 3 Goldstein S.A....Rajan S. (2005)
  3. Potassium leak channels and the KCNK family of two-P-domain subunits. (PubMed id 11256078)1, 3 Goldstein S.A....Zilberberg N. (2001)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  6. Distribution analysis of human two pore domain potassium channels in tissues of the central nervous system and periphery. (PubMed id 11165377)1 Medhurst A.D....Pangalos M.N. (2001)
  7. Localization of TASK and TREK, two-pore domain K+ channels, in human cytotrophoblast cells. (PubMed id 15695101)9 Bai X....Fyfe G.K. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 10089 HGNC: 6282 AceView: KCNK7 Ensembl:ENSG00000173338 euGenes: HUgn10089
ECgene: KCNK7 H-InvDB: KCNK7

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KCNK7 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KCNK7 gene:
Search GeneIP for patents involving KCNK7

GeneCards and IP:
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