SCNN1D (sodium channel epithelial 1 subunit delta)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6339
• Gene name: Sodium channel epithelial 1 subunit delta
• Gene symbol: SCNN1D
• Synonyms (NCBI Gene): ENaCd, ENaCdelta, SCNED, dNaCh
• Chromosome: 1
• Chromosome location: 1p36.33

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017326	hsa-miR-335-5p	Microarray	18185580
MIRT2097849	hsa-miR-370	CLIP-seq

Gene ontology (GO) Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005272	Function	Sodium channel activity	IDA	19520916
GO:0005272	Function	Sodium channel activity	IDA	7499195
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	14645214
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	7499195
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	24419567
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006883	Process	Intracellular sodium ion homeostasis	IDA	16423824
GO:0008217	Process	Regulation of blood pressure	NAS	24419567
GO:0015280	Function	Ligand-gated sodium channel activity	IBA
GO:0015280	Function	Ligand-gated sodium channel activity	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IDA	19812697
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	19520916
GO:0016324	Component	Apical plasma membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034706	Component	Sodium channel complex	IBA
GO:0034706	Component	Sodium channel complex	IDA	7499195, 16423824, 19520916
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0050914	Process	Sensory perception of salty taste	NAS	22983350
GO:0050915	Process	Sensory perception of sour taste	NAS	22983350
GO:0071468	Process	Cellular response to acidic pH	IDA	16423824
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	16423824, 19520916
GO:1904045	Process	Cellular response to aldosterone	NAS	24419567
GO:1904117	Process	Cellular response to vasopressin	NAS	24419567

Other IDs

• MIM: 601328
• HGNC: 10601
• e!Ensembl: ENSG00000162572

Protein

• UniProt ID: P51172
• Protein name: Epithelial sodium channel subunit delta (Delta-ENaC) (ENaCD) (Epithelial Na(+) channel subunit delta) (Amiloride-sensitive sodium channel subunit delta) (Delta-NaCH) (Nonvoltage-gated sodium channel 1 subunit delta) (SCNED)
• Protein function: Potential alternative pore-forming subunit of the epithelial sodium channel (ENaC), capable of replacing the alpha/SCNN1A subunit, creating a more active channel with distinct properties (PubMed:16423824, PubMed:19520916, PubMed:22505667). ENaC
• PDB: 9BLR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00858	ASC	227 → 713	Amiloride-sensitive sodium channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Not specifically expressed in epithelial cells. {ECO:0000269|PubMed:22505667, ECO:0000269|PubMed:7499195}.
• Sequence:

  MRAVLSQKTTPLPRYLWPGHLSGPRRLTWSWCSDHRTPTCRELGSPHPTPCTGPARGWPR
  RGGGPCGFTSAGHVLCGYPLCLLSGPIQGCGTGLGDSSMAFLSRTSPVAAASFQSRQEAR
  GSILLQSCQLPPQWLSTEAWTGEWKQPHGGALTSRSPGPVAPQRPCHLKGWQHRPTQHNA
  ACKQGQAAAQTPPRPGPPSAPPPPPKEGHQEGLVELPASFRELLTFFCTNATIHGAIRLV
  CSRGNRLKTTSWGLLSLGALVALCWQLGLLFERHWHRPVLMAVSVHSERKLLPLVTLCDG
  NPRRPSPVLRHLELLDEFARENIDSLYNVNLSKGRAALSATVPRHEPPFHLDREIRLQRL
  SHSGSRVRVGFRLCNSTGGDCFYRGYTSGVAAVQDWYHFHYVDILALLPAAWEDSHGSQD
  GHFVLSCSYDGLDCQARQFRTFHHPTYGSCYTVDGVWTAQRPGITHGVGLVLRVEQQPHL
  PLLSTLAGIRVMVHGRNHTPFLGHHSFSVRPGTEATISIREDEVHRLGSPYGHCTAGGEG
  VEVELLHNTSYTRQACLVSCFQQLMVETCSCGYYLHPLPAGAEYCSSARHPAWGHCFYRL
  YQDLETHRLPCTSRCPRPCRESAFKLSTGTSRWPSAKSAGWTLATLGEQGLPHQSHRQRS
  SLAKINIVYQELNYRSVEEAPVYSVPQLLSAMGSLCSLWFGASVLSLLELLELLLDASAL
  TLVLGGRRLRRAWFSWPRASPASGASSIKPEASQMPPPAGGTSDDPEPSGPHLPRVMLPG
  VLAGVSAEESWAGPQPLETLDT

• Sequence length: 802

Pathways

Reactome Pathway:

Stimuli-sensing channels

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Melanoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (8)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26265620, 28708422		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32075680	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26231936		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	26231936		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	LHGDN	18951889		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22130665		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28708422		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18073141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

No strongly related genes found yet for SCNN1D.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to SCNN1D.