SCNN1D (sodium channel epithelial 1 subunit delta) - Rat Genome Database

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Gene: SCNN1D (sodium channel epithelial 1 subunit delta) Homo sapiens
Analyze
Symbol: SCNN1D
Name: sodium channel epithelial 1 subunit delta
RGD ID: 1346343
HGNC Page HGNC:10601
Description: 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.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: amiloride-sensitive sodium channel subunit delta; delta-ENaC; delta-NaCH; dNaCh; ENaCd; ENaCdelta; epithelial Na(+) channel subunit delta; epithelial sodium channel subunit delta; MGC149710; MGC149711; nonvoltage-gated sodium channel 1 subunit delta; SCNED; sodium channel epithelial 1 delta subunit; sodium channel, non voltage gated 1 delta subunit; sodium channel, non-voltage-gated 1, delta subunit; sodium channel, nonvoltage-gated 1, delta; sodium channel, voltage-gated, type I, delta polypeptide
RGD Orthologs
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811,280,436 - 1,292,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11,280,436 - 1,292,029 (+)EnsemblGRCh38hg38GRCh38
GRCh3711,215,816 - 1,227,405 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611,207,439 - 1,217,272 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411,257,498 - 1,267,332NCBI
Celera11,353,752 - 1,364,767 (-)NCBICelera
Cytogenetic Map1p36.33NCBI
HuRef1487,469 - 498,615 (+)NCBIHuRef
CHM1_111,202,865 - 1,213,108 (+)NCBICHM1_1
T2T-CHM13v2.01709,443 - 723,551 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Object Symbol
Species
Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
SCNN1DHumanchromosome 1p36 deletion syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Chromosome 1p36 deletion syndromeClinVarPMID:25741868
SCNN1DHumancongenital myasthenic syndrome 8  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital myasthenic syndrome 8ClinVarPMID:24951643 and PMID:28492532
SCNN1DHumandilated cardiomyopathy 1LL  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Left ventricular noncompaction 8ClinVarPMID:28492532
SCNN1DHumanEhlers-Danlos syndrome spondylodysplastic type 2  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ...ClinVarPMID:19492091 and PMID:28492532
SCNN1DHumanEhlers-Danlos syndrome spondylodysplastic type 2  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ...ClinVarPMID:10862081 more ...
SCNN1DHumanEhlers-Danlos syndrome spondylodysplastic type 2  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ...ClinVarPMID:28492532
SCNN1DHumanGoldberg-Shprintzen syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Shprintzen-Goldberg syndromeClinVarPMID:28492532
SCNN1DHumanGoldberg-Shprintzen syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Shprintzen-Goldberg syndromeClinVarPMID:23892090 more ...
SCNN1DHumanimmunodeficiency 16  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiencyClinVarPMID:10862081 more ...
SCNN1DHumanimmunodeficiency 38  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiencyClinVarPMID:10862081 more ...
SCNN1DHumanJoubert syndrome 25  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Joubert syndrome 25ClinVarPMID:10862081 more ...
SCNN1DHumanNeurodevelopmental Disorders  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Neurodevelopmental disorderClinVarPMID:25741868
SCNN1DHumanPeroxisome Biogenesis Disorder, Complementation Group 7  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Peroxisome biogenesis disorder and complementation group 7ClinVarPMID:10862081 more ...
SCNN1DHumanShprintzen-Goldberg Craniosynostosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Shprintzen-Goldberg syndromeClinVarPMID:28492532
SCNN1DHumanShprintzen-Goldberg Craniosynostosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Shprintzen-Goldberg syndromeClinVarPMID:23892090 more ...
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SCNN1DHuman8-(4-chlorophenylthio)-cGMP multiple interactionsEXP 64804648-((4-chlorophenyl)thio)cyclic-3' and 5'-GMP results in increased activity of [SCNN1A binds to SCNN1B binds to SCNN1G binds to SCNN1D]CTDPMID:19359370
SCNN1DHumanacrylamide decreases expressionEXP 6480464Acrylamide results in decreased expression of SCNN1D mRNACTDPMID:32763439
SCNN1DHumanamiloride multiple interactionsEXP 6480464Amiloride results in decreased activity of [SCNN1A binds to SCNN1B binds to SCNN1G binds to SCNN1D]CTDPMID:19359370
SCNN1DHumanaristolochic acid A increases expressionEXP 6480464aristolochic acid I results in increased expression of SCNN1D mRNACTDPMID:33212167
SCNN1DHumanarsane multiple interactionsEXP 6480464[sodium arsenate results in increased abundance of Arsenic] which results in decreased expression of SCNN1D mRNACTDPMID:32525701
SCNN1DHumanarsenic atom multiple interactionsEXP 6480464[sodium arsenate results in increased abundance of Arsenic] which results in decreased expression of SCNN1D mRNACTDPMID:32525701
SCNN1DHumanbenzo[a]pyrene affects methylationEXP 6480464Benzo(a)pyrene affects the methylation of SCNN1D promoterCTDPMID:27901495
SCNN1DHumanbenzo[a]pyrene decreases methylationEXP 6480464Benzo(a)pyrene results in decreased methylation of SCNN1D 3' UTR and Benzo(a)pyrene results in decreased methylation of SCNN1D 5' UTRCTDPMID:27901495
SCNN1DHumanbenzo[e]pyrene decreases methylationEXP 6480464benzo(e)pyrene results in decreased methylation of SCNN1D intronCTDPMID:30157460
SCNN1DHumanbisphenol A decreases methylationEXP 6480464bisphenol A results in decreased methylation of SCNN1D geneCTDPMID:31601247
SCNN1DHumandimethylselenide multiple interactionsEXP 6480464[[Hydroxyl Radical results in increased oxidation of dimethylselenide] which results in increased expression of LINC01786 mRNA] which results in increased expression of SCNN1D mRNA and [[Ozone results in increased oxidation of dimethylselenide] which results in increased expression of LINC01786 mRNA] which results in increased expression of SCNN1D mRNACTDPMID:33656867
SCNN1DHumanhydroxyl multiple interactionsEXP 6480464[[Hydroxyl Radical results in increased oxidation of dimethylselenide] which results in increased expression of LINC01786 mRNA] which results in increased expression of SCNN1D mRNACTDPMID:33656867
SCNN1DHumanlead(0) increases expressionEXP 6480464Lead results in increased expression of SCNN1D mRNACTDPMID:19921347
SCNN1DHumanmethapyrilene decreases methylationEXP 6480464Methapyrilene results in decreased methylation of SCNN1D intronCTDPMID:30157460
SCNN1DHumanniclosamide increases expressionEXP 6480464Niclosamide results in increased expression of SCNN1D mRNACTDPMID:36318118
SCNN1DHumanozone multiple interactionsEXP 6480464[[Ozone results in increased oxidation of dimethylselenide] which results in increased expression of LINC01786 mRNA] which results in increased expression of SCNN1D mRNACTDPMID:33656867
SCNN1DHumanresveratrol multiple interactionsEXP 6480464[Plant Extracts co-treated with Resveratrol] results in decreased expression of SCNN1D mRNACTDPMID:23557933
SCNN1DHumansodium arsenate multiple interactionsEXP 6480464[sodium arsenate results in increased abundance of Arsenic] which results in decreased expression of SCNN1D mRNACTDPMID:32525701
SCNN1DHumansodium arsenite increases expressionEXP 6480464sodium arsenite results in increased expression of SCNN1D mRNACTDPMID:38568856
SCNN1DHumansodium atom multiple interactionsEXP 6480464[SCNN1A protein binds to SCNN1B protein binds to SCNN1G protein binds to SCNN1D protein] which results in increased transport of SodiumCTDPMID:19359370

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Biological Process
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SCNN1DHumancellular response to acidic pH involved_inIDA 150520179 PMID:16423824ComplexPortalPMID:16423824
SCNN1DHumancellular response to aldosterone involved_inNAS 150520179 PMID:24419567ComplexPortalPMID:24419567
SCNN1DHumancellular response to vasopressin involved_inNAS 150520179 PMID:24419567ComplexPortalPMID:24419567
SCNN1DHumaninorganic cation transmembrane transport involved_inIEAARBA:ARBA00026665150520179 UniProtGO_REF:0000117
SCNN1DHumanintracellular sodium ion homeostasis involved_inIDA 150520179 PMID:16423824ComplexPortalPMID:16423824
SCNN1DHumanmonoatomic ion transmembrane transport involved_inIEAUniProtKB-KW:KW-0407150520179 UniProtGO_REF:0000043
SCNN1DHumanmonoatomic ion transport involved_inIEAUniProtKB-KW:KW-0406150520179 UniProtGO_REF:0000043
SCNN1DHumanregulation of blood pressure involved_inNAS 150520179 PMID:24419567ComplexPortalPMID:24419567
SCNN1DHumansensory perception of salty taste involved_inNAS 150520179 PMID:22983350ComplexPortalPMID:22983350
SCNN1DHumansensory perception of sour taste involved_inNAS 150520179 PMID:22983350ComplexPortalPMID:22983350
SCNN1DHumansodium ion import across plasma membrane involved_inIDA 150520179 PMID:16423824 and PMID:19520916ComplexPortalPMID:16423824 and PMID:19520916
SCNN1DHumansodium ion transmembrane transport involved_inIEAGO:0005272 and GO:0015280150520179 GOCGO_REF:0000108
SCNN1DHumansodium ion transmembrane transport involved_inIBAFB:FBgn0024319 more ...150520179 GO_CentralGO_REF:0000033
SCNN1DHumansodium ion transport involved_inIEAUniProtKB-KW:KW-0739150520179 UniProtGO_REF:0000043
SCNN1DHumansodium ion transport involved_inIEAInterPro:IPR001873 more ...150520179 InterProGO_REF:0000002
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Cellular Component
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SCNN1DHumanactin cytoskeleton located_inIDA 150520179 HPAGO_REF:0000052
SCNN1DHumanapical plasma membrane is_active_inIDA 150520179 PMID:19520916UniProtPMID:19520916
SCNN1DHumanapical plasma membrane located_inIEAUniProtKB-SubCell:SL-0015150520179 UniProtGO_REF:0000044
SCNN1DHumanmembrane located_inIEAUniProtKB-SubCell:SL-0162150520179 UniProtGO_REF:0000044
SCNN1DHumanmembrane located_inIDA 150520179 PMID:19812697UniProtPMID:19812697
SCNN1DHumanmembrane located_inIEAInterPro:IPR001873 more ...150520179 InterProGO_REF:0000002
SCNN1DHumanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
SCNN1DHumanplasma membrane located_inIEAUniProtKB-KW:KW-1003150520179 UniProtGO_REF:0000043
SCNN1DHumanplasma membrane located_inNAS 150520179 PMID:24419567ComplexPortalPMID:24419567
SCNN1DHumanplasma membrane located_inIEAUniProtKB-SubCell:SL-0039150520179 UniProtGO_REF:0000044
SCNN1DHumanplasma membrane located_inTAS 150520179 ReactomeReactome:R-HSA-2672334 and Reactome:R-HSA-2682349
SCNN1DHumanplasma membrane is_active_inIDA 150520179 PMID:7499195UniProtPMID:7499195
SCNN1DHumanplasma membrane located_inIDA 150520179 HPAGO_REF:0000052
SCNN1DHumanplasma membrane is_active_inIBAFB:FBgn0020258 more ...150520179 GO_CentralGO_REF:0000033
SCNN1DHumansodium channel complex part_ofIDA 150520179 PMID:16423824 more ...UniProtPMID:16423824 more ...
SCNN1DHumansodium channel complex part_ofIBAPANTHER:PTN000189955 and UniProtKB:P51172150520179 GO_CentralGO_REF:0000033
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Molecular Function

  

Imported Annotations - SMPDB

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Object Symbol
Species
Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
SCNN1DHumanamiloride pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00133
SCNN1DHumanbendroflumethiazide pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00090
SCNN1DHumanbumetanide pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00088
SCNN1DHumanchlorothiazide pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00078
SCNN1DHumanchlorthalidone pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00122
SCNN1DHumancystinuria pathway  EXP 10402751 SMPDBSMP:00723
SCNN1DHumaneplerenone pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00135
SCNN1DHumanetacrynic acid pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00097
SCNN1DHumanfurosemide pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00115
SCNN1DHumanHartnup disease pathway  EXP 10402751 SMPDBSMP:00189
SCNN1DHumanhydrochlorothiazide pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00100
SCNN1DHumanhydroflumethiazide pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00108
SCNN1DHumaniminoglycinuria pathway  EXP 10402751 SMPDBSMP:00193
SCNN1DHumanlysinuric protein intolerance pathway  EXP 10402751 SMPDBSMP:00585
SCNN1DHumanlysinuric protein intolerance pathway  EXP 10402751 SMPDBSMP:00197
SCNN1DHumanmetolazone pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00105
SCNN1DHumanspironolactone pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00134
SCNN1DHumantorasemide pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00118
SCNN1DHumantriamterene pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00132
SCNN1DHumantrichlormethiazide pharmacodynamics pathway  EXP 10402751 SMPDBSMP:00121
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Object Symbol
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Evidence
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Reference
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Source
Original Reference(s)
SCNN1DHumanGeneralized-onset seizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Generalised epilepsyClinVar 

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
PMID:7499195   PMID:8661065   PMID:8889548   PMID:12477932   PMID:14645214   PMID:14702039   PMID:14726523   PMID:15084585   PMID:15308635   PMID:15489334   PMID:16423824   PMID:16710414  
PMID:16930535   PMID:17472699   PMID:18073141   PMID:18298571   PMID:18951889   PMID:19359370   PMID:19520916   PMID:19717556   PMID:19812697   PMID:19913121   PMID:20628086   PMID:20631247  
PMID:21307123   PMID:21419751   PMID:21562313   PMID:21741370   PMID:21873635   PMID:22159085   PMID:22505667   PMID:22983350   PMID:23589227   PMID:24419567   PMID:25677639   PMID:26772908  
PMID:27941075   PMID:28514442   PMID:28708422   PMID:30997501   PMID:31754387   PMID:31900314   PMID:33673381   PMID:33961781   PMID:36193739  



SCNN1D
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811,280,436 - 1,292,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11,280,436 - 1,292,029 (+)EnsemblGRCh38hg38GRCh38
GRCh3711,215,816 - 1,227,405 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611,207,439 - 1,217,272 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411,257,498 - 1,267,332NCBI
Celera11,353,752 - 1,364,767 (-)NCBICelera
Cytogenetic Map1p36.33NCBI
HuRef1487,469 - 498,615 (+)NCBIHuRef
CHM1_111,202,865 - 1,213,108 (+)NCBICHM1_1
T2T-CHM13v2.01709,443 - 723,551 (+)NCBIT2T-CHM13v2.0
Scnn1d
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554869,508,435 - 9,514,107 (-)NCBIChiLan1.0ChiLan1.0
SCNN1D
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21226,935,345 - 226,952,596 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11225,632,019 - 225,649,369 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0135,437 - 46,538 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111,239,074 - 1,248,062 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11,238,512 - 1,247,649 (+)Ensemblpanpan1.1panPan2
SCNN1D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1556,455,677 - 56,466,035 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl556,461,939 - 56,465,595 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha556,532,576 - 56,542,936 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0556,658,510 - 56,668,872 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1556,649,231 - 56,659,591 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0556,541,513 - 56,551,874 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0556,931,514 - 56,941,874 (+)NCBIUU_Cfam_GSD_1.0
Scnn1d
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505827,607,570 - 27,614,765 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367371,851,185 - 1,854,923 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCNN1D
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1663,568,171 - 63,578,623 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2658,044,741 - 58,047,444 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SCNN1D
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120130,158,282 - 130,169,479 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605434,724,525 - 34,734,712 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scnn1d
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248188,316,300 - 8,321,995 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in SCNN1D
138 total Variants

Predicted Target Of
Summary Value
Count of predictions:2999
Count of miRNA genes:834
Interacting mature miRNAs:1019
Transcripts:ENST00000325425, ENST00000338555, ENST00000379099, ENST00000379101, ENST00000379116, ENST00000400928, ENST00000467651, ENST00000470022
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
407115031GWAS764007_Hplatelet count QTL GWAS764007 (human)0.000003platelet quantity (VT:0003179)platelet count (CMO:0000029)112909321290933Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human

SHGC-74130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711,226,808 - 1,226,987UniSTSGRCh37
Build 3611,216,671 - 1,216,850RGDNCBI36
Celera11,354,174 - 1,354,353RGD
Cytogenetic Map1p36.3-p36.2UniSTS
HuRef1498,014 - 498,193UniSTS
TNG Radiation Hybrid Map176246.0UniSTS
GeneMap99-GB4 RH Map115.89UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2242 4942 1723 2343 4 622 1929 464 2268 7265 6438 52 3708 847 1731 1610 170


1 to 24 of 24 rows
RefSeq Transcripts NM_001130413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_037668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA617657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA622685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU729671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX424308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ898175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ898176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ898177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU489064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U38254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 24 of 24 rows

Ensembl Acc Id: ENST00000325425   ⟹   ENSP00000321594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,282,109 - 1,292,024 (+)Ensembl
Ensembl Acc Id: ENST00000338555   ⟹   ENSP00000339504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,280,588 - 1,292,024 (+)Ensembl
Ensembl Acc Id: ENST00000379099   ⟹   ENSP00000368393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,287,109 - 1,290,943 (+)Ensembl
Ensembl Acc Id: ENST00000379101   ⟹   ENSP00000449804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,280,472 - 1,291,373 (+)Ensembl
Ensembl Acc Id: ENST00000379116   ⟹   ENSP00000368411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,280,436 - 1,292,025 (+)Ensembl
Ensembl Acc Id: ENST00000400928   ⟹   ENSP00000383717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,281,224 - 1,292,029 (+)Ensembl
Ensembl Acc Id: ENST00000467651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,282,164 - 1,285,597 (+)Ensembl
Ensembl Acc Id: ENST00000470022   ⟹   ENSP00000420548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,281,925 - 1,286,168 (+)Ensembl
RefSeq Acc Id: NM_001130413   ⟹   NP_001123885
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,280,436 - 1,292,025 (+)NCBI
GRCh3711,215,816 - 1,227,409 (+)ENTREZGENE
HuRef1487,469 - 498,615 (+)ENTREZGENE
CHM1_111,202,865 - 1,213,108 (+)NCBI
T2T-CHM13v2.01709,443 - 723,551 (+)NCBI
Sequence:
RefSeq Acc Id: NR_037668
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,280,436 - 1,292,025 (+)NCBI
GRCh3711,215,816 - 1,227,409 (+)ENTREZGENE
HuRef1487,469 - 498,615 (+)ENTREZGENE
CHM1_111,202,865 - 1,213,108 (+)NCBI
T2T-CHM13v2.01709,443 - 723,551 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001123885   ⟸   NM_001130413
- UniProtKB: Q5T7L3 (UniProtKB/Swiss-Prot),   Q09HT0 (UniProtKB/Swiss-Prot),   Q08AQ3 (UniProtKB/Swiss-Prot),   B3KSD7 (UniProtKB/Swiss-Prot),   B1PS44 (UniProtKB/Swiss-Prot),   A9Z1X6 (UniProtKB/Swiss-Prot),   Q8NA24 (UniProtKB/Swiss-Prot),   P51172 (UniProtKB/Swiss-Prot),   A6NNF7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000383717   ⟸   ENST00000400928
Ensembl Acc Id: ENSP00000339504   ⟸   ENST00000338555
Ensembl Acc Id: ENSP00000321594   ⟸   ENST00000325425
Ensembl Acc Id: ENSP00000368393   ⟸   ENST00000379099

Name Modeler Protein Id AA Range Protein Structure
AF-P51172-F1-model_v2 AlphaFold P51172 1-802 view protein structure

RGD ID:6786802
Promoter ID:HG_KWN:147
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000338555,   ENST00000379101,   NM_001130413,   NM_002978,   OTTHUMT00000005803,   UC001ADT.1,   UC001ADU.1,   UC001ADX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3611,206,911 - 1,207,411 (+)MPROMDB


1 to 40 of 48 rows
Database
Acc Id
Source(s)
COSMIC SCNN1D COSMIC
Ensembl Genes ENSG00000162572 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000325425.12 UniProtKB/Swiss-Prot
  ENST00000338555.6 UniProtKB/Swiss-Prot
  ENST00000379116 ENTREZGENE
  ENST00000379116.10 UniProtKB/Swiss-Prot
  ENST00000400928 ENTREZGENE
  ENST00000400928.7 UniProtKB/Swiss-Prot
Gene3D-CATH Acid-sensing ion channels like domains UniProtKB/Swiss-Prot
  YojJ-like UniProtKB/Swiss-Prot
GTEx ENSG00000162572 GTEx
HGNC ID HGNC:10601 ENTREZGENE
Human Proteome Map SCNN1D Human Proteome Map
InterPro ENaC UniProtKB/Swiss-Prot
  ENaC_chordates UniProtKB/Swiss-Prot
  ENaC_CS UniProtKB/Swiss-Prot
KEGG Report hsa:6339 UniProtKB/Swiss-Prot
NCBI Gene 6339 ENTREZGENE
OMIM 601328 OMIM
PANTHER AMILORIDE-SENSITIVE SODIUM CHANNEL SUBUNIT DELTA UniProtKB/Swiss-Prot
  PTHR11690 UniProtKB/Swiss-Prot
Pfam ASC UniProtKB/Swiss-Prot
PharmGKB PA35011 PharmGKB
PRINTS AMINACHANNEL UniProtKB/Swiss-Prot
PROSITE ASC UniProtKB/Swiss-Prot
UniProt A6NNF7 ENTREZGENE
  A9Z1X6 ENTREZGENE
  B1PS44 ENTREZGENE
  B3KSD7 ENTREZGENE
  C9JDY8_HUMAN UniProtKB/TrEMBL
  F8VWH5_HUMAN UniProtKB/TrEMBL
  H0Y3F1_HUMAN UniProtKB/TrEMBL
  I6L9J9_HUMAN UniProtKB/TrEMBL
  P51172 ENTREZGENE
  Q08AQ3 ENTREZGENE
  Q09HT0 ENTREZGENE
  Q09HT1_HUMAN UniProtKB/TrEMBL
  Q5T7L3 ENTREZGENE
  Q8NA24 ENTREZGENE
  SCNND_HUMAN UniProtKB/Swiss-Prot
1 to 40 of 48 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 SCNN1D  sodium channel epithelial 1 subunit delta  SCNN1D  sodium channel epithelial 1 delta subunit  Symbol and/or name change 5135510 APPROVED
2016-02-10 SCNN1D  sodium channel epithelial 1 delta subunit    sodium channel, non voltage gated 1 delta subunit  Symbol and/or name change 5135510 APPROVED
2015-01-20 SCNN1D  sodium channel, non voltage gated 1 delta subunit    sodium channel, non-voltage-gated 1, delta subunit  Symbol and/or name change 5135510 APPROVED
2012-03-01 SCNN1D  sodium channel, non-voltage-gated 1, delta subunit  SCNN1D  sodium channel, nonvoltage-gated 1, delta  Symbol and/or name change 5135510 APPROVED