Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
90134 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Potassium voltage-gated channel subfamily H member 7 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
KCNH7 |
SynonymsGene synonyms aliases
|
ERG3, HERG3, Kv11.3 |
ChromosomeChromosome number
|
2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2q24.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q9NS40 |
Protein name |
Potassium voltage-gated channel subfamily H member 7 (Ether-a-go-go-related gene potassium channel 3) (ERG-3) (Eag-related protein 3) (Ether-a-go-go-related protein 3) (hERG-3) (Voltage-gated potassium channel subunit Kv11.3) |
Protein function |
Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly. |
PDB |
6Y7Q
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13426 |
PAS_9 |
29 → 134 |
PAS domain |
Domain |
PF00520 |
Ion_trans |
407 → 674 |
Ion transport protein |
Family |
PF00027 |
cNMP_binding |
763 → 848 |
Cyclic nucleotide-binding domain |
Domain |
|
Sequence |
|
Sequence length |
1196 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Autoimmune diseases |
Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 |
rs41285370, rs869025224 |
30595370 |
Hypothyroidism |
Hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 |
30595370 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
Psoriasis |
Psoriasis |
rs-1, rs281875215, rs587777763, rs281875213, rs281875212 |
23143594, 20953190, 25574825 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Diabetic nephropathy |
Diabetic Nephropathy |
|
26305897 |
Psoriasis vulgaris |
Psoriasis vulgaris |
|
26626624 |
|