Basic information of KCNH7 :
| Official Symbol of Gene | KCNH7 |
| Species | Homo sapiens |
| Entrez Gene ID | 90134 |
| Official Full Name | potassium voltage-gated channel subfamily H member 7 |
| Also known as | ERG3; HERG3; Kv11.3 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000184611 MIM:608169; AllianceGenome:HGNC:18863 |
| Map Location | 2q24.2 |
| Variation Type | SNP |
| refSNP ID | rs2068330 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | Real-Time PCR |
| Disease | MS |
| Disease subtype | RRMS/PPMS/SPMS |
| Population | white Spanish |
| Sample Size | 412MS/535Health |
Literature information of multiple sclerosis :
| Pubmed ID | 18285833 |
| Year | 2008 |
| Title | IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Therefore, genes included in this locus – IFIH1 interferon induced helicase,GCA grancalcin or the potassium channel KCNH7 – are potential candidates implicated in the pathogenesis of these autoimmune diseases, although strong linkage disequilibrium in the region hampered further localization of the etiologic gene. |
| Mechanism/Pathway | A recent genome-wide scan of nonsynonymous SNPs and ulterior validation in case-control and family analyses evidenced a susceptibility locus for type 1 diabetes (T1D) on chromosome 2q24.3. |
