• Gene id: 6337

Gene Summary

• Gene Symbol: SCNN1A   Gene   UCSC   Ensembl
• Aliases: BESC2, ENaCa, ENaCalpha, LIDLS3, SCNEA, SCNN1
• Gene name: sodium channel epithelial 1 subunit alpha
• Alternate names: amiloride-sensitive sodium channel subunit alpha, alpha ENaC-2, alpha-ENaC, alpha-NaCH, amiloride-sensitive epithelial sodium channel alpha subunit, amiloride-sensitive sodium channel subunit alpha 2, epithelial Na(+) channel subunit alpha, nasal epithelial sodi,
• Gene location: 12p13.31 (6377356: 6346842)     Exons: 14     NC_000012.12
• 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 alpha subunit,
• OMIM: 600228

Protein Summary

• Protein general information: P37088  
  • Name: Amiloride sensitive sodium channel subunit alpha (Alpha NaCH) (Epithelial Na(+) channel subunit alpha) (Alpha ENaC) (ENaCA) (Nonvoltage gated sodium channel 1 subunit alpha) (SCNEA)
  • Length: 669  
  • Mass: 75704
  • Tissue specificity: Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level) (PubMed
• Sequence:

  MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFEFFCNNTTIHGAIRLV
  CSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINLNSDKLVFPAVTICTLNPYRYPEIKEELEEL
  DRITEQTLFDLYKYSSFTTLVAGSRSRRDLRGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIG
  FQLCNQNKSDCFYQTYSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHP
  MYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPAFMDDGGFNLRPGVET
  SISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSCFQESMIKECGCAYIFYPRPQNVEYCDYRKH
  SSWGYCYYKLQVDFSSDHLGCFTKCRKPCSVTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVN
  IFFKELNYKTNSESPSVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGR
  GAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGASSSTCPLGGP

• Structural information:
  • Interpro: IPR001873  IPR004724  IPR020903  
  • Prosite: PS01206
  • PDB: 2M3O 6BQN
  • PDBsum: 2M3O 6BQN
  • STRING: ENSP00000353292
• Other Databases: GeneCards:  SCNN1A  Malacards:  SCNN1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0015280	ligand-gated sodium channel activity	IDA	contributes to
GO:0060170	ciliary membrane	IDA	cellular component
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:0031514	motile cilium	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	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:0050909	sensory perception of taste	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005272	sodium channel activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
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	IPI	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0097228	sperm principal piece	ISS	cellular component
GO:0001669	acrosomal vesicle	ISS	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
Bronchiectasis with or without elevated sweat chloride	KEGG:H00892
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
Bronchiectasis with or without elevated sweat chloride	KEGG:H00892
Pseudohypoaldosteronism	PMID:8589714
neuroblastoma	PMID:21314941
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray