Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

6331

Name

SCN5A

Synonymous

CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;sodium channel, voltage-gated, type V, alpha subunit;SCN5A;sodium channel, voltage-gated, type V, alpha subunit

Definition

cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit|sodium channel protein cardiac muscle subunit alpha|sodium channel protein type 5 subunit alpha|voltage-gated sodium channel subunit alpha Nav1.5

Position

3p21

Gene Type

protein-coding

Gene Regulation:

ENCODE RegulomeDB
Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

ENCODE RegulomeDB   [Top]

Link to UCSC genome

Matched SNP location

dbSNP ID

Regulatory information

chr3:38589548-38691164chr3:38619348-38619348rs7428882Single_Nucleotides|eQTL|CSRNP1, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hepatocytes

Transcription Factors   [Top]

There is no record for SCN5A

Post Transcriptional Modification   [Top]

Location (AA)

PTM type

Literature

Database

214N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
283N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
288N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
291N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
318N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
328N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
548N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
592N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
740N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
803N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
841N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
864N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
946N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1365N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1374N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1380N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1388N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1736N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1774N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1955N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1494Phosphotyrosine15831816Phospho.ELM 6.0
1495Phosphotyrosine15831816Phospho.ELM 6.0

Methylation Profile   [Top]

Chromosome

Location

Source

chr3

Promoter: 38665667 - 38667667Agilent_014791

chr3

Promoter: 38665667 - 38667667GSE27584

chr3

Promoter: 38665667 - 38667667GSE27584

chr3

Promoter: 38665667 - 38667667Agilent_014791_44K


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