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SCNN1G sodium channel epithelial 1 subunit gamma [ Homo sapiens (human) ]

Gene ID: 6340, updated on 1-Jun-2020

Summary

Official Symbol
SCNN1Gprovided by HGNC
Official Full Name
sodium channel epithelial 1 subunit gammaprovided by HGNC
Primary source
HGNC:HGNC:10602
See related
Ensembl:ENSG00000166828 MIM:600761
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PHA1; BESC3; ENaCg; LDLS2; SCNEG; ENaCgamma
Summary
Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]
Expression
Biased expression in kidney (RPKM 29.9), salivary gland (RPKM 4.7) and 5 other tissues See more
Orthologs

Genomic context

See SCNN1G in Genome Data Viewer
Location:
16p12.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (23182745..23216883)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23194040..23228201)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268176 Neighboring gene ubiquitin specific peptidase 31 Neighboring gene sodium channel epithelial 1 subunit beta Neighboring gene component of oligomeric golgi complex 7 Neighboring gene RN7SK pseudogene 23

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
WW domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
ion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to ligand-gated sodium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sodium channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
excretion TAS
Traceable Author Statement
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
multicellular organismal water homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
sensory perception of taste IEA
Inferred from Electronic Annotation
more info
 
sodium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
sodium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
amiloride-sensitive sodium channel subunit gamma
Names
ENaC gamma subunit
amiloride-sensitive epithelial sodium channel gamma subunit
amiloride-sensitive sodium channel gamma-subunit
epithelial Na(+) channel subunit gamma
gamma-ENaC
gamma-NaCH
nonvoltage-gated sodium channel 1 subunit gamma
sodium channe epithelial 1 gamma subunit
sodium channel epithelial 1 gamma subunit
sodium channel, non-voltage-gated 1, gamma subunit
sodium channel, nonvoltage-gated 1, gamma

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011909.1 RefSeqGene

    Range
    5027..39165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039.4NP_001030.2  amiloride-sensitive sodium channel subunit gamma

    See identical proteins and their annotated locations for NP_001030.2

    Status: REVIEWED

    Source sequence(s)
    AC099482, BC059391, X87160
    Consensus CDS
    CCDS10608.1
    UniProtKB/Swiss-Prot
    P51170
    UniProtKB/TrEMBL
    A5X2V1
    Related
    ENSP00000300061.2, ENST00000300061.3
    Conserved Domains (1) summary
    TIGR00859
    Location:24630
    ENaC; sodium channel transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    23182745..23216883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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