SCNN1D

Summary

SCNN1D (sodium channel epithelial 1 subunit delta, HGNC:10601) is a protein-coding gene on chromosome 1p36.33, encoding Epithelial sodium channel subunit delta (P51172). 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.

Contributes to sodium channel activity. Involved in cellular response to acidic pH; intracellular sodium ion homeostasis; and sodium ion import across plasma membrane. Located in actin cytoskeleton and membrane. Part of sodium channel complex. Is active in apical plasma membrane.

Source: NCBI Gene 6339 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 139 total
• MANE Select transcript: NM_001130413

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10601
Approved symbol	SCNN1D
Name	sodium channel epithelial 1 subunit delta
Location	1p36.33
Locus type	gene with protein product
Status	Approved
Aliases	ENaCdelta, dNaCh
Ensembl gene	ENSG00000162572
Ensembl biotype	protein_coding
OMIM	601328
Entrez	6339

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000325425, ENST00000338555, ENST00000379099, ENST00000379101, ENST00000379116, ENST00000400928, ENST00000467651, ENST00000470022

RefSeq mRNA: 1 — MANE Select: NM_001130413 NM_001130413

CCDS: CCDS44037

Canonical transcript exons

ENST00000379116 — 18 exons

Exon	Start	End
ENSE00001562666	1291254	1292025
ENSE00002414944	1280436	1280666
ENSE00003253818	1281411	1281610
ENSE00003396173	1281226	1281297
ENSE00003412670	1285571	1285664
ENSE00003480639	1287673	1287836
ENSE00003503328	1290637	1290694
ENSE00003547655	1291065	1291140
ENSE00003559189	1287939	1288037
ENSE00003562830	1282242	1282315
ENSE00003580183	1286768	1286975
ENSE00003620052	1287109	1287299
ENSE00003623933	1290477	1290555
ENSE00003669557	1290271	1290388
ENSE00003678929	1287508	1287596
ENSE00003681943	1285926	1286278
ENSE00003683030	1283978	1284090
ENSE00003689163	1290895	1290953

Expression profiles

Bgee: expression breadth ubiquitous, 161 present calls, max score 92.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.0916 / max 68.7528, expressed in 1221 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78	2.6630	1148
79	0.3796	209
80	0.0490	17

Top tissues by expression

291 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	92.03	gold quality
right testis	UBERON:0004534	91.94	gold quality
left testis	UBERON:0004533	91.23	gold quality
cerebellar hemisphere	UBERON:0002245	90.95	gold quality
cerebellar cortex	UBERON:0002129	90.75	gold quality
right uterine tube	UBERON:0001302	90.39	gold quality
cerebellum	UBERON:0002037	87.51	gold quality
right frontal lobe	UBERON:0002810	87.41	gold quality
testis	UBERON:0000473	86.20	gold quality
apex of heart	UBERON:0002098	85.64	gold quality
adenohypophysis	UBERON:0002196	84.92	gold quality
paraflocculus	UBERON:0005351	84.15	silver quality
left ovary	UBERON:0002119	83.91	gold quality
right ovary	UBERON:0002118	83.84	gold quality
cingulate cortex	UBERON:0003027	83.37	gold quality
anterior cingulate cortex	UBERON:0009835	83.36	gold quality
pituitary gland	UBERON:0000007	83.18	gold quality
left uterine tube	UBERON:0001303	82.87	gold quality
right lobe of liver	UBERON:0001114	82.82	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.51	gold quality
middle frontal gyrus	UBERON:0002702	82.48	silver quality
frontal pole	UBERON:0002795	82.44	gold quality
sural nerve	UBERON:0015488	82.35	gold quality
nucleus accumbens	UBERON:0001882	82.00	gold quality
ventricular zone	UBERON:0003053	81.24	gold quality
amygdala	UBERON:0001876	80.85	gold quality
body of uterus	UBERON:0009853	80.70	gold quality
putamen	UBERON:0001874	80.30	gold quality
caudate nucleus	UBERON:0001873	80.22	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.30

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 28)

• Study identified a stringent requirement for Mre11-Rad50-Nbs (MRN) function in telomere protection during early embryonic development. (PMID:19520832)
• NBS1 interacts with HP1 to ensure genome integrity. (PMID:31836699)
• The Mre11-Rad50-Nbs1 complex mediates the robust recruitment of Polo to DNA lesions during mitosis in Drosophila. (PMID:32487663)
• delta ENaC is regulated by Murr1 (PMID:14645214)
• ENaCdelta activity is regulated by protons, and may contribute to the pH sensation and/or pH regulation in the human brain (PMID:14726523)
• delta ENaC is a proton sensor (PMID:15084585)
• ENaCdelta is chemically activated by capsazepine by a proton-dependent mechanism (PMID:15308635)
• the interactions of delta-ENaC with alpha beta gamma-human epithelial sodium channel subunits could account for heterogeneity of native epithelial channels (PMID:16423824)
• analysis of anovel spliced variant of the ENaC delta-subunit in the human brain (PMID:16930535)
• ENaC delta isoforms are widely expressed in pyramidal cells of the human and monkey cerebral cortex and in different neuronal populations of telencephalic subcortical nuclei. (PMID:17472699)
• Expression analyses at the level of mRNA clearly revealed that ENaC delta transcript was strongly expressed in human melanoma cells using reverse transcription-polymerase chain reaction and cell-based in situ hybridization techniques. (PMID:18073141)
• EIPA [5-(N-ethyl-N-isopropyl)-amiloride hydrochloride] inhibition of ENaCs, possibly ENaC-alpha and ENaC-delta, significantly improved the sperm motility in healthy donors and in asthenospermia patients. (PMID:18298571)
• ENaCdelta is a candidate molecule for pH sensing in the gastrointestinal system in humans, providing a novel therapeutic target for gastro-oesophageal reflux disease (PMID:18951889)
• Regulation of epithelial sodium channels by cGMP/PKGII. (PMID:19359370)
• the delta-subunit of ENaC alters proteolytic channel activation and enhances base-line channel activity (PMID:19717556)
• Data support a physiological role for SGK1.1 in the regulation of delta-ENaC through a pathway that differs from the classical one and suggest that the kinase could serve as an integrator of different signaling pathways converging on the channel. (PMID:20631247)
• Identify the specific domains of epithelial sodium channels that are responsible for the differences in the response to flow of alphabetagamma and deltabetagamma channels. (PMID:21307123)
• Cpt-cAMP activates human epithelial sodium channels via relieving self-inhibition. (PMID:21419751)
• CPT-cGMP Stimulates Human Alveolar Fluid Clearance by Releasing External Na+ Self-Inhibition of ENaC. (PMID:21562313)
• These results suggest that COMMD1 downregulates deltaENaC activity by reducing deltaENaC surface expression through promoting internalization of surface deltaENaC to an intracellular recycling pool, possibly via enhanced ubiquitination. (PMID:21741370)
• delta-ENaC undergoes dynamin-independent endocytosis as opposed to alphabetagamma-channels. (PMID:22159085)
• study characterized a new variant, delta2 ENaC, in lung epithelial cells; heterologous delta2betagamma ENaC exhibited a number of divergent features from the delta1betagamma counterpart in biophysics and pharmacology, regulation, and the lifespan of proteins (PMID:22505667)
• delta-ENaC expression is low in NCI-H441, Calu-3, and ATI cells and does not contribute to transepithelial sodium absorption (PMID:25677639)
• deltabetagamma-ENaC is inhibited by CFTR but activated by cyclic AMP. (PMID:27941075)
• The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations (PMID:28708422)
• Proliferative regulation of alveolar epithelial type 2 progenitor cells by human Scnn1d gene. (PMID:31754387)
• CRISPR/Cas9 Mediated Knock Down of delta-ENaC Blunted the TNF-Induced Activation of ENaC in A549 Cells. (PMID:33673381)
• Rare Variants in Genes Encoding Subunits of the Epithelial Na[+] Channel Are Associated With Blood Pressure and Kidney Function. (PMID:36193739)

Cross-species orthologs

24 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	Nach	FBGN0024319
drosophila_melanogaster	ppk28	FBGN0030795
drosophila_melanogaster	ppk17	FBGN0032602
drosophila_melanogaster	ppk6	FBGN0034489
drosophila_melanogaster	ppk12	FBGN0034730
drosophila_melanogaster	ppk29	FBGN0034965
drosophila_melanogaster	ppk24	FBGN0039839
drosophila_melanogaster	ppk22	FBGN0051105
drosophila_melanogaster	ppk8	FBGN0052792
drosophila_melanogaster	ppk5	FBGN0053289
drosophila_melanogaster	ppk16	FBGN0065108
drosophila_melanogaster	ppk11	FBGN0065109
drosophila_melanogaster	ppk9	FBGN0085398
drosophila_melanogaster	ppk18	FBGN0265001
caenorhabditis_elegans		WBGENE00003168
caenorhabditis_elegans		WBGENE00003174
caenorhabditis_elegans		WBGENE00007518
caenorhabditis_elegans		WBGENE00009073
caenorhabditis_elegans		WBGENE00011891
caenorhabditis_elegans	delm-2	WBGENE00016063
caenorhabditis_elegans	acd-1	WBGENE00016064
caenorhabditis_elegans	acd-2	WBGENE00016066
caenorhabditis_elegans		WBGENE00016699
caenorhabditis_elegans		WBGENE00017879

Paralogs (8): ASIC4 (ENSG00000072182), ASIC2 (ENSG00000108684), ASIC1 (ENSG00000110881), SCNN1A (ENSG00000111319), SCNN1G (ENSG00000166828), SCNN1B (ENSG00000168447), ASIC3 (ENSG00000213199), ASIC5 (ENSG00000256394)

Protein

Protein identifiers

Epithelial sodium channel subunit delta — P51172 (reviewed: P51172)

Alternative names: Amiloride-sensitive sodium channel subunit delta, Delta-NaCH, Nonvoltage-gated sodium channel 1 subunit delta, SCNED

All UniProt accessions (4): C9JDY8, F8VWH5, P51172, H0Y3F1

UniProt curated annotations — full annotation on UniProt →

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. ENaC functions in epithelial tissues, where it facilitates the electrodiffusion of sodium ions from the extracellular fluid through the apical membrane of cells, with water following osmotically, regulating sodium balance and fluid homeostasis. This subunit could also function independently as a sodium channel or assemble into other tissue-specific heterotrimeric sodium channels. ENaC channels including this isoform exhibit greater conductance.

Subunit / interactions. Can form an alternative heterotrimeric epithelial sodium channel (ENaC), composed of a delta (SCNN1D), beta (SCNN1B), and gamma (SCNN1G) subunit, where the delta (SCNN1D) subunit replaces the alpha (SCNN1A) subunit.

Subcellular location. Apical cell membrane.

Tissue specificity. Not specifically expressed in epithelial cells.

Activity regulation. Originally identified and characterized by its inhibition by the diuretic drug amiloride.

Miscellaneous. The additional delta/SCNN1D subunit exists only in some organisms.

Similarity. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1D subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
P51172-3	3	yes
P51172-1	1, delta1
P51172-2	2, delta2

RefSeq proteins (1): NP_001123885* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001873	ENaC	Family
IPR004724	ENaC_chordates	Family
IPR020903	ENaC_CS	Conserved_site

Pfam: PF00858

Catalyzed reactions (Rhea), 1 shown:

• Na(+)(in) = Na(+)(out) (RHEA:34963)

UniProt features (60 total): strand 20, helix 9, sequence variant 6, sequence conflict 5, turn 5, topological domain 3, splice variant 3, glycosylation site 2, transmembrane region 2, region of interest 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9BLR	ELECTRON MICROSCOPY	3.38

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P51172-F1	66.84	0.26

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 330, 548

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-2672351	Stimuli-sensing channels
R-HSA-9730628	Sensory perception of salty taste
R-HSA-382551	Transport of small molecules
R-HSA-9709957	Sensory Perception
R-HSA-9717189	Sensory perception of taste
R-HSA-983712	Ion channel transport

MSigDB gene sets: 102 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_RESPONSE_TO_CORTICOSTEROID, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_CORTICOSTEROID_STIMULUS, GOBP_RESPONSE_TO_KETONE, GOBP_SENSORY_PERCEPTION_OF_TASTE, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_INTRACELLULAR_SODIUM_ION_HOMEOSTASIS

GO Biological Process (12): intracellular sodium ion homeostasis (GO:0006883), regulation of blood pressure (GO:0008217), sodium ion transmembrane transport (GO:0035725), sensory perception of salty taste (GO:0050914), sensory perception of sour taste (GO:0050915), cellular response to acidic pH (GO:0071468), sodium ion import across plasma membrane (GO:0098719), cellular response to aldosterone (GO:1904045), cellular response to vasopressin (GO:1904117), monoatomic ion transport (GO:0006811), sodium ion transport (GO:0006814), monoatomic ion transmembrane transport (GO:0034220)

GO Molecular Function (3): sodium channel activity (GO:0005272), ligand-gated sodium channel activity (GO:0015280), protein binding (GO:0005515)

GO Cellular Component (5): plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), membrane (GO:0016020), apical plasma membrane (GO:0016324), sodium channel complex (GO:0034706)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Ion channel transport	1
Sensory perception of taste	1
Sensory Perception	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sensory perception of taste	2
intracellular monoatomic cation homeostasis	1
sodium ion homeostasis	1
blood circulation	1
regulation of biological quality	1
sodium ion transport	1
monoatomic cation transmembrane transport	1
response to acidic pH	1
cellular response to pH	1
sodium ion transmembrane transport	1
inorganic cation import across plasma membrane	1
cellular response to mineralocorticoid stimulus	1
cellular response to alcohol	1
cellular response to aldehyde	1
cellular response to ketone	1
response to aldosterone	1
cellular response to peptide hormone stimulus	1
response to vasopressin	1
transport	1
metal ion transport	1
monoatomic ion transport	1
transmembrane transport	1
monoatomic cation channel activity	1
sodium ion transmembrane transporter activity	1
sodium channel activity	1
ligand-gated monoatomic cation channel activity	1
binding	1
membrane	1
cell periphery	1
cytoskeleton	1
cellular anatomical structure	1
apical part of cell	1
plasma membrane region	1
cation channel complex	1

Protein interactions and networks

STRING

787 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SCNN1D	CYP4A11	Q02928	815
SCNN1D	SCNN1B	P51168	711
SCNN1D	PKD2L1	Q9P0L9	591
SCNN1D	ACAP3	Q96P50	577
SCNN1D	SCNN1A	P37088	491
SCNN1D	SCNN1G	P51170	485
SCNN1D	TAS2R60	P59551	480
SCNN1D	ASIC2	Q16515	468
SCNN1D	ACOT7	O00154	462
SCNN1D	ASIC1	P78348	447
SCNN1D	PKD1L3	Q7Z443	439
SCNN1D	PKD1L1	Q8TDX9	437
SCNN1D	OR2T10	Q8NGZ9	434
SCNN1D	TAS1R2	Q8TE23	420
SCNN1D	TAS2R38	P59533	419

IntAct

10 interactions, top by confidence:

A	B	Type	Score
SCNN1D	COMMD1	psi-mi:“MI:0915”(physical association)	0.580
COMMD1	SCNN1D	psi-mi:“MI:0915”(physical association)	0.580
SCNN1D	ABHD16A	psi-mi:“MI:0914”(association)	0.530
STX11	EXOC5	psi-mi:“MI:0914”(association)	0.530
SCNN1G	SCNN1D	psi-mi:“MI:0915”(physical association)	0.400
SCNN1A	SCNN1D	psi-mi:“MI:0915”(physical association)	0.400
STX11	GOSR1	psi-mi:“MI:0914”(association)	0.350

BioGRID (40): SCNN1D (Affinity Capture-MS), ABHD16A (Affinity Capture-MS), MTFR2 (Affinity Capture-MS), TAP2 (Affinity Capture-MS), DPY19L1 (Affinity Capture-MS), CLSTN3 (Affinity Capture-MS), AMIGO1 (Affinity Capture-MS), CFAP74 (Affinity Capture-MS), LRRC3 (Affinity Capture-MS), CLPTM1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ALG9 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), LRP12 (Affinity Capture-MS), POMT1 (Affinity Capture-MS)

ESM2 similar proteins: A1L515, A2A9Q0, D3YZZ2, D4A2Q0, E1BDF2, E7ERA6, F2Z333, H3BV60, O43508, O46547, O54907, P0C6B2, P0DH78, P41155, P51172, P70225, Q01113, Q13477, Q14626, Q29RT8, Q5RF19, Q5SZI1, Q5T7M4, Q5U4P2, Q63148, Q64385, Q6AZ51, Q6BAA4, Q6UWL6, Q6UXT9, Q6ZMC9, Q86UR1, Q86YD3, Q8BH06, Q8N1F8, Q8NFR9, Q96G42, Q99640, Q99M75, Q99MF4

Diamond homologs: A5D7U4, F1MJW3, H1AFJ5, H1AFJ6, H1AFJ7, H2Q5A1, H2QAR5, H2QAR6, H9GBX2, K7FQW8, K7FSQ4, K7GET2, O13262, O13263, O62816, O97741, O97742, P37088, P37089, P37090, P37091, P51167, P51168, P51169, P51170, P51171, P51172, P55270, Q21974, Q28738, Q61180, Q92075, Q95165, Q9R1N2, Q9W754, Q9WU38, Q9WU39, O46547, Q09274, O01635

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

139 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	28
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2187 predictions. Top by Δscore:

Variant	Effect	Δscore
1:1286933:GC:G	donor_gain	1.0000
1:1286971:GACTG:G	donor_gain	1.0000
1:1286973:CTGGT:C	donor_loss	1.0000
1:1286974:TGGT:T	donor_loss	1.0000
1:1286975:GGT:G	donor_loss	1.0000
1:1286976:G:GG	donor_gain	1.0000
1:1286976:GTG:G	donor_loss	1.0000
1:1286977:T:A	donor_loss	1.0000
1:1287107:A:AG	acceptor_gain	1.0000
1:1287107:AGT:A	acceptor_gain	1.0000
1:1287108:G:GT	acceptor_gain	1.0000
1:1287108:GT:G	acceptor_gain	1.0000
1:1287108:GTG:G	acceptor_gain	1.0000
1:1287108:GTGC:G	acceptor_gain	1.0000
1:1287108:GTGCA:G	acceptor_gain	1.0000
1:1287273:T:G	donor_gain	1.0000
1:1287295:GCCCG:G	donor_gain	1.0000
1:1287296:CCCG:C	donor_gain	1.0000
1:1287297:CCG:C	donor_gain	1.0000
1:1287297:CCGGT:C	donor_loss	1.0000
1:1287298:CGGTG:C	donor_loss	1.0000
1:1287300:G:C	donor_loss	1.0000
1:1287300:G:GG	donor_gain	1.0000
1:1287502:TTCCA:T	acceptor_loss	1.0000
1:1287503:TCCA:T	acceptor_loss	1.0000
1:1287504:CCAGA:C	acceptor_loss	1.0000
1:1287505:CA:C	acceptor_loss	1.0000
1:1287506:A:AG	acceptor_gain	1.0000
1:1287506:AGAC:A	acceptor_loss	1.0000
1:1287507:G:GA	acceptor_gain	1.0000

AlphaMissense

5127 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:1287177:G:C	W396C	0.985
1:1287177:G:T	W396C	0.985
1:1286967:T:C	F371L	0.982
1:1286969:C:A	F371L	0.982
1:1286969:C:G	F371L	0.982
1:1290676:G:C	W633C	0.981
1:1290676:G:T	W633C	0.981
1:1290387:G:C	W593C	0.978
1:1290387:G:T	W593C	0.978
1:1286111:G:C	K248N	0.970
1:1286111:G:T	K248N	0.970
1:1286968:T:C	F371S	0.969
1:1290539:T:A	C615S	0.967
1:1290540:G:C	C615S	0.967
1:1286259:T:A	C298S	0.965
1:1286260:G:C	C298S	0.965
1:1287175:T:A	W396R	0.963
1:1287175:T:C	W396R	0.963
1:1290361:T:A	C585S	0.962
1:1290362:G:C	C585S	0.962
1:1286968:T:G	F371C	0.960
1:1290484:C:G	C596W	0.958
1:1286251:T:A	V295D	0.957
1:1287178:T:G	Y397D	0.957
1:1287545:T:A	C450S	0.957
1:1287546:G:C	C450S	0.957
1:1290363:C:G	C585W	0.957
1:1291290:A:C	S697R	0.957
1:1291292:C:A	S697R	0.957
1:1291292:C:G	S697R	0.957

dbSNP variants (sampled 300 via entrez): RS1000078457 (1:1281723 C>A,G,T), RS1000287515 (1:1292237 G>A), RS1000356415 (1:1288316 TCC>T), RS1000403428 (1:1288151 G>A), RS1000432417 (1:1281818 G>A,T), RS1000466971 (1:1281523 G>A), RS1000467909 (1:1281127 C>A), RS1000769030 (1:1280827 C>T), RS1000801833 (1:1280591 A>G), RS1000953323 (1:1285134 C>A,T), RS1000965875 (1:1288031 C>G,T), RS1001321198 (1:1283884 T>C), RS1001330619 (1:1287379 A>G), RS1001506065 (1:1284539 T>C), RS1001578918 (1:1287772 C>T)

Disease associations

OMIM: gene MIM:601328 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004131_103	Inflammatory bowel disease	2.000000e-07
GCST004133_40	Ulcerative colitis	3.000000e-06
GCST009465_1	Platelet count	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: lgic — Epithelial sodium channel (ENaC)

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
bisphenol A	decreases methylation	1
sodium arsenate	decreases expression, increases abundance	1
dimethylselenide	increases oxidation, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
8-((4-chlorophenyl)thio)cyclic-3’,5’-GMP	affects binding, increases activity	1
8-(4-chlorophenylthio)guanosine 3’,5’-cyclic monophosphorothioate	affects binding, increases activity	1
ICG 001	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	increases expression, decreases reaction	1
jinfukang	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Amiloride	affects binding, decreases activity	1
Arsenic	decreases expression, increases abundance	1
Vehicle Emissions	decreases reaction, increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Lead	increases expression	1
Methapyrilene	decreases methylation	1
Niclosamide	increases expression	1
Ozone	increases oxidation, increases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Smoke	decreases expression	1
Sodium	affects binding, increases transport	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2ET	Abcam HeLa SCNN1D KO	Cancer cell line	Female
CVCL_TK17	HAP1 SCNN1D (-)	Cancer cell line	Male
CVCL_YA80	IDG-HEK293T-SCNN1D-V5-OE	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.