• Gene id: 6339

Gene Summary

• Gene Symbol: SCNN1D   Gene   UCSC   Ensembl
• Aliases: ENaCd, ENaCdelta, SCNED, dNaCh
• Gene name: sodium channel epithelial 1 subunit delta
• Alternate names: amiloride-sensitive sodium channel subunit delta, delta-ENaC, delta-NaCH, epithelial Na(+) channel subunit delta, nonvoltage-gated sodium channel 1 subunit delta, sodium channel epithelial 1 delta subunit, sodium channel, non-voltage-gated 1, delta subunit, sodi,
• Gene location: 1p36.33 (1280435: 1292028)     Exons: 18     NC_000001.11
• OMIM: 607673

Protein Summary

• Protein general information: P51172  
  • Name: Amiloride sensitive sodium channel subunit delta (Delta NaCH) (Epithelial Na(+) channel subunit delta) (Delta ENaC) (ENaCD) (Nonvoltage gated sodium channel 1 subunit delta) (SCNED)
  • Length: 802  
  • Mass: 87850
• Sequence:

  MRAVLSQKTTPLPRYLWPGHLSGPRRLTWSWCSDHRTPTCRELGSPHPTPCTGPARGWPRRGGGPCGFTSAGHVL
  CGYPLCLLSGPIQGCGTGLGDSSMAFLSRTSPVAAASFQSRQEARGSILLQSCQLPPQWLSTEAWTGEWKQPHGG
  ALTSRSPGPVAPQRPCHLKGWQHRPTQHNAACKQGQAAAQTPPRPGPPSAPPPPPKEGHQEGLVELPASFRELLT
  FFCTNATIHGAIRLVCSRGNRLKTTSWGLLSLGALVALCWQLGLLFERHWHRPVLMAVSVHSERKLLPLVTLCDG
  NPRRPSPVLRHLELLDEFARENIDSLYNVNLSKGRAALSATVPRHEPPFHLDREIRLQRLSHSGSRVRVGFRLCN
  STGGDCFYRGYTSGVAAVQDWYHFHYVDILALLPAAWEDSHGSQDGHFVLSCSYDGLDCQARQFRTFHHPTYGSC
  YTVDGVWTAQRPGITHGVGLVLRVEQQPHLPLLSTLAGIRVMVHGRNHTPFLGHHSFSVRPGTEATISIREDEVH
  RLGSPYGHCTAGGEGVEVELLHNTSYTRQACLVSCFQQLMVETCSCGYYLHPLPAGAEYCSSARHPAWGHCFYRL
  YQDLETHRLPCTSRCPRPCRESAFKLSTGTSRWPSAKSAGWTLATLGEQGLPHQSHRQRSSLAKINIVYQELNYR
  SVEEAPVYSVPQLLSAMGSLCSLWFGASVLSLLELLELLLDASALTLVLGGRRLRRAWFSWPRASPASGASSIKP
  EASQMPPPAGGTSDDPEPSGPHLPRVMLPGVLAGVSAEESWAGPQPLETLDT

• Structural information:
  • Interpro: IPR001873  IPR004724  IPR020903  
  • Prosite: PS01206
  • STRING: ENSP00000368411
• Other Databases: GeneCards:  SCNN1D  Malacards:  SCNN1D

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0005272	sodium channel activity	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0050909	sensory perception of taste	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:0006811	ion transport	IEA	biological process
GO:0015280	ligand-gated sodium channel activity	TAS	molecular function
GO:0006814	sodium ion transport	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:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq