Human Gene KCNA7 (uc002pmg.3) Description and Page Index
  Description: Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.
RefSeq Summary (NM_031886): Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AJ310479.1, BC140906.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158188, SAMEA2158800 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr19:49,570,675-49,576,198 Size: 5,524 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr19:49,573,320-49,575,842 Size: 2,523 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:49,570,675-49,576,198)mRNA (may differ from genome)Protein (456 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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Wikipedia

-  Comments and Description Text from UniProtKB
  ID: KCNA7_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily A member 7; AltName: Full=Voltage-gated potassium channel subunit Kv1.7;
FUNCTION: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity).
SUBUNIT: Heterotetramer of potassium channel proteins (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Highly expressed in skeletal muscle, heart and kidney.
DOMAIN: The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments (By similarity).
DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position (By similarity).
SIMILARITY: Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.7/KCNA7 sub-subfamily.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KCNA7
CDC HuGE Published Literature: KCNA7
Positive Disease Associations: diabetes, type 2
Related Studies:
  1. diabetes, type 2
    Ding, Q. et al. 2003, [Distribution and Significance of cSNP in KCNA7 Gene as a Novel NIDDM Candidate Gene in the Population of Northeast China.], Yi chuan. 2003 Mar;25(2):129-32. [PubMed 15639836]
    This study demonstrates the frequency of this cSNP complies well with the Hardy-Weinberg equilibrium in normal group,T418M(C/T) is only a polymorphic maker of KCNA7 gene,and the possibility of association between NIDDM and KCNA7 can not be excluded.

-  MalaCards Disease Associations
  MalaCards Gene Search: KCNA7
Diseases sorted by gene-association score: progressive familial heart block (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.78 RPKM in Muscle - Skeletal
Total median expression: 9.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -202.52356-0.569 Picture PostScript Text
3' UTR -972.752645-0.368 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR005821 - Ion_trans_dom
IPR003091 - K_chnl
IPR003968 - K_chnl_volt-dep_Kv
IPR003972 - K_chnl_volt-dep_Kv1
IPR003131 - T1-type_BTB

Pfam Domains:
PF00520 - Ion transport protein
PF02214 - BTB/POZ domain
PF07885 - Ion channel

SCOP Domains:
54695 - POZ domain
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on Q96RP8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005267 potassium channel activity

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0034765 regulation of ion transmembrane transport
GO:0051260 protein homooligomerization
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AJ310479 - Homo sapiens mRNA for potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7 gene).
LF385387 - JP 2014500723-A/192890: Polycomb-Associated Non-Coding RNAs.
JD349740 - Sequence 330764 from Patent EP1572962.
JD039142 - Sequence 20166 from Patent EP1572962.
JD219642 - Sequence 200666 from Patent EP1572962.
JD276900 - Sequence 257924 from Patent EP1572962.
JD084593 - Sequence 65617 from Patent EP1572962.
JD455341 - Sequence 436365 from Patent EP1572962.
JD322486 - Sequence 303510 from Patent EP1572962.
JD518606 - Sequence 499630 from Patent EP1572962.
JD097958 - Sequence 78982 from Patent EP1572962.
JD205226 - Sequence 186250 from Patent EP1572962.
JD344132 - Sequence 325156 from Patent EP1572962.
JD204652 - Sequence 185676 from Patent EP1572962.
JD181485 - Sequence 162509 from Patent EP1572962.
JD469979 - Sequence 451003 from Patent EP1572962.
JD366388 - Sequence 347412 from Patent EP1572962.
JD446238 - Sequence 427262 from Patent EP1572962.
JD430747 - Sequence 411771 from Patent EP1572962.
JD447958 - Sequence 428982 from Patent EP1572962.
JD052768 - Sequence 33792 from Patent EP1572962.
JD473611 - Sequence 454635 from Patent EP1572962.
JD473612 - Sequence 454636 from Patent EP1572962.
JD274733 - Sequence 255757 from Patent EP1572962.
JD424974 - Sequence 405998 from Patent EP1572962.
JD325799 - Sequence 306823 from Patent EP1572962.
JD370098 - Sequence 351122 from Patent EP1572962.
JD122740 - Sequence 103764 from Patent EP1572962.
JD404604 - Sequence 385628 from Patent EP1572962.
JD497285 - Sequence 478309 from Patent EP1572962.
JD347000 - Sequence 328024 from Patent EP1572962.
JD375944 - Sequence 356968 from Patent EP1572962.
JD460559 - Sequence 441583 from Patent EP1572962.
JD062461 - Sequence 43485 from Patent EP1572962.
JD085549 - Sequence 66573 from Patent EP1572962.
JD147689 - Sequence 128713 from Patent EP1572962.
JD330499 - Sequence 311523 from Patent EP1572962.
JD039105 - Sequence 20129 from Patent EP1572962.
JD379536 - Sequence 360560 from Patent EP1572962.
JD202730 - Sequence 183754 from Patent EP1572962.
JD038803 - Sequence 19827 from Patent EP1572962.
JD077470 - Sequence 58494 from Patent EP1572962.
JD114646 - Sequence 95670 from Patent EP1572962.
JD467520 - Sequence 448544 from Patent EP1572962.
JD274166 - Sequence 255190 from Patent EP1572962.
JD179900 - Sequence 160924 from Patent EP1572962.
JD158435 - Sequence 139459 from Patent EP1572962.
JD439350 - Sequence 420374 from Patent EP1572962.
JD343725 - Sequence 324749 from Patent EP1572962.
JD080176 - Sequence 61200 from Patent EP1572962.
JD294725 - Sequence 275749 from Patent EP1572962.
JD532786 - Sequence 513810 from Patent EP1572962.
BC140906 - Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7, mRNA (cDNA clone MGC:176583 IMAGE:9056718), complete cds.
JD550597 - Sequence 531621 from Patent EP1572962.
JD181167 - Sequence 162191 from Patent EP1572962.
JD472829 - Sequence 453853 from Patent EP1572962.
JD145675 - Sequence 126699 from Patent EP1572962.
JD097629 - Sequence 78653 from Patent EP1572962.
AF315818 - Homo sapiens voltage-gated potassium channel KCNA7 mRNA, complete cds.
AY779768 - Homo sapiens voltage-dependent potassium channel Kv1.7 mRNA, complete cds.
KJ897078 - Synthetic construct Homo sapiens clone ccsbBroadEn_06472 KCNA7 gene, encodes complete protein.
JD192680 - Sequence 173704 from Patent EP1572962.
JD057785 - Sequence 38809 from Patent EP1572962.
JD470089 - Sequence 451113 from Patent EP1572962.
MA620964 - JP 2018138019-A/192890: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96RP8 (Reactome details) participates in the following event(s):

R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A1KYX7, KCNA7_HUMAN, NM_031886, NP_114092, Q96RP8, Q9BYS4
UCSC ID: uc002pmg.3
RefSeq Accession: NM_031886
Protein: Q96RP8 (aka KCNA7_HUMAN)
CCDS: CCDS12755.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_031886.2
exon count: 2CDS single in 3' UTR: no RNA size: 4372
ORF size: 1371CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2387.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.