Gene Page:SCN5A

总结?
GeneID 6331
Symbol SCN5A
Synonyms CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1
Description sodium voltage-gated channel alpha subunit 5
Reference MIM:600163|HGNC:HGNC:10593|Ensembl:ENSG00000183873|HPRD:02543|Vega:OTTHUMG00000156166
Gene type protein-coding
Map location 3p21
Pascal p-value 5.935E-6
Fetal beta -0.099
DMG 1 (# studies)
eGene 元
Support EXCITABILITY

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Wockner_2014 Genome-wide DNA methylation analysis This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
PMID:cooccur High-throughput literature-search 系统搜索PubMed的基因co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_I Genome scan meta-analysis Psr: 0.006
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details
Network Shortest path distance of core genes in the Human protein-protein interaction network Contribution to shortest path in PPI network: 0.0369

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg12926589 3 38691364 SCN5A 1.83E-5 -0.284 0.016 DMG:Wockner_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0005244 voltage-gated ion channel activity IEA -
GO:0005248 voltage-gated sodium channel activity IEA -
GO:0005248 voltage-gated sodium channel activity TAS 7651517
GO:0005216 ion channel activity IEA -
GO:0031402 sodium ion binding IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0008015 blood circulation NAS 7889574
GO:0008016 regulation of heart contraction TAS 9521325
GO:0006814 sodium ion transport IEA -
GO:0006814 sodium ion transport TAS 7651517
GO:0006811 ion transport IEA -
GO:0006936 muscle contraction TAS 7889574
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0001518 voltage-gated sodium channel complex IEA -
去:0016020 membrane IEA -
去:0016021 integral to membrane IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
REACTOME DEVELOPMENTAL BIOLOGY 396 292 All SZGR 2.0 genes in this pathway
REACTOME AXON GUIDANCE 251 188 All SZGR 2.0 genes in this pathway
REACTOME L1CAM INTERACTIONS 86 62 All SZGR 2.0 genes in this pathway
REACTOME INTERACTION BETWEEN L1 AND ANKYRINS 23 19 All SZGR 2.0 genes in this pathway
LIN APC TARGETS 77 55 All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY NO BLOOD UP 222 139 All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY UP 487 303 All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069 729 All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 AND H3K27ME3 349 234 All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435 318 All SZGR 2.0 genes in this pathway
MIKKELSEN NPC HCP WITH H3K27ME3 341 243 All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590 403 All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE UP 857 456 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
let-7/98 1614 1620 m8 hsa-let-7abrain UGAGGUAGUAGGUUGUAUAGUU
hsa-let-7bbrain UGAGGUAGUAGGUUGUGUGGUU
hsa-let-7cbrain UGAGGUAGUAGGUUGUAUGGUU
hsa-let-7dbrain AGAGGUAGUAGGUUGCAUAGU
hsa-let-7ebrain UGAGGUAGGAGGUUGUAUAGU
hsa-let-7fbrain UGAGGUAGUAGAUUGUAUAGUU
hsa-miR-98brain UGAGGUAGUAAGUUGUAUUGUU
hsa-let-7gSZ UGAGGUAGUAGUUUGUACAGU
hsa-let-7ibrain UGAGGUAGUAGUUUGUGCUGU
miR-125/351 1364 1370 1A hsa-miR-125bbrain UCCCUGAGACCCUAACUUGUGA
hsa-miR-125abrain UCCCUGAGACCCUUUAACCUGUG
miR-153 1434 1440 1A hsa-miR-153 UUGCAUAGUCACAAAAGUGA
miR-200bc/429 1683 1689 1A hsa-miR-200b UAAUACUGCCUGGUAAUGAUGAC
hsa-miR-200c UAAUACUGCCGGGUAAUGAUGG
hsa-miR-429 UAAUACUGUCUGGUAAAACCGU
hsa-miR-200b UAAUACUGCCUGGUAAUGAUGAC
hsa-miR-200c UAAUACUGCCGGGUAAUGAUGG
hsa-miR-429 UAAUACUGUCUGGUAAAACCGU
miR-214 1412 1418 1A hsa-miR-214brain ACAGCAGGCACAGACAGGCAG
miR-219 1417 1423 m8 hsa-miR-219brain UGAUUGUCCAAACGCAAUUCU
miR-369-3p 326 332 1A hsa-miR-369-3p AAUAAUACAUGGUUGAUCUUU
miR-374 326 332 m8 hsa-miR-374 UUAUAAUACAACCUGAUAAGUG
miR-378* 1384 1390 1A hsa-miR-422b CUGGACUUGGAGUCAGAAGGCC
hsa-miR-422a CUGGACUUAGGGUCAGAAGGCC
miR-448 1433 1440 1A,m8 hsa-miR-448 UUGCAUAUGUAGGAUGUCCCAU