• Gene id: 6340

Gene Summary

• Gene Symbol: SCNN1G   Gene   UCSC   Ensembl
• Aliases: BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, SCNEG
• Gene name: sodium channel epithelial 1 subunit gamma
• Alternate names: amiloride-sensitive sodium channel subunit gamma, 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 ,
• Gene location: 16p12.2 (23182744: 23216882)     Exons: 13     NC_000016.10
• Gene summary(Entrez): 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,
• OMIM: 600761

Protein Summary

• Protein general information: P51170  
  • Name: Amiloride sensitive sodium channel subunit gamma (Epithelial Na(+) channel subunit gamma) (ENaCG) (Gamma ENaC) (Gamma NaCH) (Nonvoltage gated sodium channel 1 subunit gamma) (SCNEG)
  • Length: 649  
  • Mass: 74270
  • Tissue specificity: Expressed in kidney (at protein level). {ECO
• Sequence:

  MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFTLTAVALILWQCALLV
  FSFYTVSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQETREALKSLYGFPESRKRREAESWNSVSEGK
  QPRFSHRIPLLIFDQDEKGKARDFFTGRKRKVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINA
  IQEWYKLHYMNIMAQVPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
  GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLTESFKLSEPYSQCTED
  GSDVPIRNIYNAAYSLQICLHSCFQTKMVEKCGCAQYSQPLPPAANYCNYQQHPNWMYCYYQLHRAFVQEELGCQ
  SVCKEACSFKEWTLTTSLAQWPSVVSEKWLLPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPANSIE
  MLLSNFGGQLGLWMSCSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
  DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL

• Structural information:
  • Interpro: IPR001873  IPR004724  IPR020903  
  • Prosite: PS01206
  • PDB: 6BQN
  • PDBsum: 6BQN
  • STRING: ENSP00000300061
• Other Databases: GeneCards:  SCNN1G  Malacards:  SCNN1G

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005216	ion channel activity	IMP	molecular function
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0015280	ligand-gated sodium channel activity	IDA	contributes to
GO:0055078	sodium ion homeostasis	IDA	biological process
GO:0050891	multicellular organismal water homeostasis	IDA	biological process
GO:0034706	sodium channel complex	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0015280	ligand-gated sodium channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0050909	sensory perception of taste	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005272	sodium channel activity	TAS	molecular function
GO:0015280	ligand-gated sodium channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006814	sodium ion transport	TAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050699	WW domain binding	IEA	molecular function
GO:0015280	ligand-gated sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0034706	sodium channel complex	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0050699	WW domain binding	IPI	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04742	Taste transduction
hsa04960	Aldosterone-regulated sodium reabsorption

Diseases

Associated diseases	References
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
High blood pressure	KEGG:H01633
Bronchiectasis with or without elevated sweat chloride	KEGG:H00892
Liddle syndrome	KEGG:H00242
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
High blood pressure	KEGG:H01633
Bronchiectasis with or without elevated sweat chloride	KEGG:H00892
Liddle syndrome	KEGG:H00242
Liddle syndrome	PMID:7550319
Pseudohypoaldosteronism	PMID:8640238
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray