Gene Gene information from NCBI Gene database.
Entrez ID 6340
Gene name Sodium channel epithelial 1 subunit gamma
Gene symbol SCNN1G
Synonyms (NCBI Gene)
BESC3ENaCgENaCgammaLDLS2PHA1PHA1B3SCNEG
Chromosome 16
Chromosome location 16p12.2
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,
SNPs SNP information provided by dbSNP.
12
SNP ID Visualize variation Clinical significance Consequence
rs5736 G>A Benign-likely-benign, benign, likely-benign, pathogenic Missense variant, coding sequence variant
rs5738 G>A Benign-likely-benign, benign, likely-benign, pathogenic Missense variant, coding sequence variant
rs72647541 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs137853342 G>A Pathogenic Coding sequence variant, stop gained
rs886041786 ->GCCG Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
168
miRTarBase ID miRNA Experiments Reference
MIRT648317 hsa-miR-4778-3p HITS-CLIP 23824327
MIRT648316 hsa-miR-5702 HITS-CLIP 23824327
MIRT648315 hsa-miR-7154-5p HITS-CLIP 23824327
MIRT648314 hsa-miR-433-3p HITS-CLIP 23824327
MIRT648313 hsa-miR-937-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0005216 Function Monoatomic ion channel activity IMP 22864553
GO:0005272 Function Sodium channel activity IDA 24124190, 32729833
GO:0005272 Function Sodium channel activity IEA
GO:0005515 Function Protein binding IPI 11244092, 16423824, 21775436, 22493497
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600761 10602 ENSG00000166828
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51170
Protein name Epithelial sodium channel subunit gamma (ENaC subunit gamma) (ENaCG) (Epithelial Na(+) channel subunit gamma) (Gamma-ENaC) (Amiloride-sensitive sodium channel subunit gamma) (Gamma-NaCH) (Nonvoltage-gated sodium channel 1 subunit gamma) (SCNEG) (Sodium ch
Protein function This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:7550319, PubMed:7762608, PubMed:9792722
PDB 6BQN , 6WTH , 9BLR , 9BTG , 9BTU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00858 ASC 32 552 Amiloride-sensitive sodium channel Family
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney (at protein level). {ECO:0000269|PubMed:22207244}.
Sequence
Sequence length 649
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Taste transduction
Aldosterone-regulated sodium reabsorption
  Stimuli-sensing channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bronchiectasis with or without elevated sweat chloride 3 Pathogenic; Likely pathogenic rs866495683, rs1596760831 RCV004798928
RCV000991457
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liddle syndrome 2 Pathogenic; Likely pathogenic rs137853342, rs2141946607, rs1567270184, rs1596760831 RCV000009372
RCV000680189
RCV000684754
RCV000991457
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism, type IB1, autosomal recessive Likely pathogenic rs764425655, rs1596760831 RCV001449732
RCV000991457
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism, type IB3, autosomal recessive Pathogenic rs1596779402, rs1567262640, rs1596779433 RCV002310624
RCV002310625
RCV002310626
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Achard Thiers syndrome Stimulate 37417251
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 34111567
★☆☆☆☆
Found in Text Mining only
Bartter syndrome type 3 Associate 18443236
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 26723502
★☆☆☆☆
Found in Text Mining only
Bronchiectasis Associate 18507830
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 34111567
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 35865652
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Associate 26437894
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Associate 19017867, 25900089
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Dwarfism Pituitary Associate 25157616
★☆☆☆☆
Found in Text Mining only