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11280 SCN11A

11280

SCN11A

sodium voltage-gated channel alpha subunit 11

protein-coding

Homo sapiens

基因描述

Type Description
Definition sodium voltage-gated channel alpha subunit 11

研究结论

Date Results Publications
2020-09-05 13:58:00 A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane. 31822564
2020-05-09 11:24:00 Findings suggest that higher PBMC SCN11A expression levels may be associated with certain behavioral bipolar disorder (BD) sub-phenotypes, including lack of alcohol dependence and psychosis, among BD patients. 31498915
2019-12-14 10:27:00 The frequency of (potentially) pathogenic variants was 5.1% (n=58/1139) for SCN9A, 3.7% (n=42/1139) for SCN10A and 2.9% (n=33/1139) for SCN11A in pure small fibre neuropathy. 30554136
2019-09-21 11:27:00 data suggest an important contribution of NaV1.9 to itch signaling. 30395542
2019-06-01 10:15:00 A total of 11 mutations in SCN11A: p.R222H in seven families, and p.R225C, p.F814C, p.F1146S, or p.V1184A, in independent families. A founder mutation, SCN11A p.R222H was confirmed to be frequently observed in patients with Familial episodic limb pain in Japan. And identification of two novel missense variants of SCN11A, p.F814C and p.F1146S. 30557356

名称对应

Type IDs
Synonymous FEPS3, HSAN7, NAV1.9, NaN, PN5, SCN12A, SNS-2
Gene
UniProtKB-ID: SCNBA_HUMAN
UniprotKB: Q9UI33
UniParc: UPI000006CCD7, UPI0000209BDE, UPI0000ED8FEE
EMBL: AJ417790, AF150882, AC116038, AY686224, AF109737, AF188679
Ensembl: ENSG00000168356
KO: hsa:11280
Nucleutide sequences
EMBL-CDS: AAT95434.1, CAD10507.1, AAF24976.1, AAF17480.1, AAF24980.1
Ensembl_TRS: ENST00000302328, ENST00000444237, ENST00000668754, ENST00000456224
Protein sequencees
Ensembl_PRO: ENSP00000408028, ENSP00000499569, ENSP00000416757, ENSP00000307599
RefSeq: XP_016861140.1, NP_054858.2, XP_011531623.1, XP_016861139.1, XP_016861136.1, XP_016861141.1, NP_001336182.1, XP_016861142.1, XP_016861137.1
Others
UniRef100: UniRef100_Q9UI33
UniRef90: UniRef90_Q9UI33
UniRef50: UniRef50_Q9UI33
UniGene: Hs.591657
CCDS: CCDS33737.1

全选

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