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
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:
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.
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.
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.
ModBase Predicted Comparative 3D Structure on Q96RP8
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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.