Details for: SCNN1D

Gene ID: 6339

Symbol: SCNN1D

Ensembl ID: ENSG00000162572

Description: sodium channel epithelial 1 subunit delta

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 34.3309
    Cell Significance Index: -5.3400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 20.8166
    Cell Significance Index: -5.2800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.3635
    Cell Significance Index: -5.3800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.2382
    Cell Significance Index: -2.7100
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.5499
    Cell Significance Index: 3.6500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5266
    Cell Significance Index: 100.2100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3638
    Cell Significance Index: 35.9900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3231
    Cell Significance Index: 9.3100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3171
    Cell Significance Index: 6.8700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3057
    Cell Significance Index: 8.1900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2996
    Cell Significance Index: 270.4900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2213
    Cell Significance Index: 44.3900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2114
    Cell Significance Index: 4.6300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2052
    Cell Significance Index: 9.3000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1787
    Cell Significance Index: 29.0700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1603
    Cell Significance Index: 17.4400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1457
    Cell Significance Index: 9.1800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.1340
    Cell Significance Index: 1.8800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1203
    Cell Significance Index: 7.2200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0881
    Cell Significance Index: 31.5900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0865
    Cell Significance Index: 5.9900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0836
    Cell Significance Index: 16.6000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0612
    Cell Significance Index: 2.1500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0433
    Cell Significance Index: 2.2500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0362
    Cell Significance Index: 4.2200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0348
    Cell Significance Index: 5.0600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0231
    Cell Significance Index: 2.9600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0184
    Cell Significance Index: 0.8600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0150
    Cell Significance Index: 6.6300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0145
    Cell Significance Index: 0.3000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0117
    Cell Significance Index: 0.1600
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0112
    Cell Significance Index: 0.1600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0106
    Cell Significance Index: 1.4600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0070
    Cell Significance Index: 13.2500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0036
    Cell Significance Index: 0.2700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0022
    Cell Significance Index: 4.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0016
    Cell Significance Index: 0.8900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0012
    Cell Significance Index: 0.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0012
    Cell Significance Index: 1.8000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0018
    Cell Significance Index: -1.1700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0021
    Cell Significance Index: -2.8800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0026
    Cell Significance Index: -0.7500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0047
    Cell Significance Index: -0.8500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0054
    Cell Significance Index: -0.3600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0058
    Cell Significance Index: -4.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0069
    Cell Significance Index: -5.2100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0071
    Cell Significance Index: -3.2400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0073
    Cell Significance Index: -5.4000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0080
    Cell Significance Index: -0.1700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0091
    Cell Significance Index: -5.1600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0151
    Cell Significance Index: -0.4300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0161
    Cell Significance Index: -2.7500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0188
    Cell Significance Index: -0.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0189
    Cell Significance Index: -2.3300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0206
    Cell Significance Index: -0.5800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0248
    Cell Significance Index: -2.8400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0259
    Cell Significance Index: -1.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0265
    Cell Significance Index: -5.5900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0270
    Cell Significance Index: -3.4900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0320
    Cell Significance Index: -3.2700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0387
    Cell Significance Index: -1.7100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0403
    Cell Significance Index: -1.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0421
    Cell Significance Index: -4.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0458
    Cell Significance Index: -2.8100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0474
    Cell Significance Index: -0.7200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0476
    Cell Significance Index: -3.5500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0496
    Cell Significance Index: -5.1700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0510
    Cell Significance Index: -2.6800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0510
    Cell Significance Index: -1.9300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0542
    Cell Significance Index: -3.0400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0585
    Cell Significance Index: -3.7800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0585
    Cell Significance Index: -1.8700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0585
    Cell Significance Index: -4.1400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0592
    Cell Significance Index: -1.0200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0600
    Cell Significance Index: -4.7500
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0634
    Cell Significance Index: -0.8300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0668
    Cell Significance Index: -1.0600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0693
    Cell Significance Index: -1.4700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0697
    Cell Significance Index: -2.2200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0718
    Cell Significance Index: -1.4200
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: -0.0720
    Cell Significance Index: -0.8000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0729
    Cell Significance Index: -2.0900
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: -0.0816
    Cell Significance Index: -0.9400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0817
    Cell Significance Index: -1.1700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0829
    Cell Significance Index: -4.3200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0859
    Cell Significance Index: -2.2600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0868
    Cell Significance Index: -3.0400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0889
    Cell Significance Index: -1.3300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0944
    Cell Significance Index: -1.5800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0957
    Cell Significance Index: -2.6100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0978
    Cell Significance Index: -3.5900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1048
    Cell Significance Index: -3.4300
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.1087
    Cell Significance Index: -1.2300
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1105
    Cell Significance Index: -1.5500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1122
    Cell Significance Index: -3.9000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1134
    Cell Significance Index: -1.9600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1166
    Cell Significance Index: -2.5200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1183
    Cell Significance Index: -1.2300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1203
    Cell Significance Index: -2.4200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1257
    Cell Significance Index: -3.0200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The SCNN1D gene is a single nucleotide gene located on chromosome 5q31.1. It encodes for the SCNND protein, which is a subunit of the ENaC complex. The ENaC complex is composed of three subunits, including SCNND, SCNNA, and SCNNB1, which are encoded by the SCNN1A, SCNN1B, and SCNN1G genes, respectively. The SCNND subunit is amiloride-sensitive, meaning that it is inhibited by the amiloride diuretic. **Pathways and Functions:** The SCNN1D gene is involved in several critical pathways, including: 1. **Intracellular sodium ion homeostasis:** ENaC plays a crucial role in maintaining sodium homeostasis by regulating the transport of sodium ions across epithelial membranes. 2. **Ion channel transport:** ENaC is a ligand-gated sodium channel that facilitates the transport of sodium ions across the plasma membrane. 3. **Regulation of blood pressure:** ENaC is involved in the regulation of blood pressure by controlling sodium ion transport and fluid balance. 4. **Sensory perception:** ENaC is also involved in the sensory perception of salty taste and sour taste. 5. **Sodium ion transmembrane transport:** ENaC facilitates the transport of sodium ions across the plasma membrane, which is essential for maintaining sodium homeostasis. **Clinical Significance:** Dysfunction of the SCNN1D gene has been implicated in several human diseases, including: 1. **Liddle's syndrome:** A rare genetic disorder characterized by hypertension, hypokalemia, and metabolic alkalosis. 2. **Pseudohypoaldosteronism type 2:** A genetic disorder characterized by hypertension, hyperkalemia, and metabolic acidosis. 3. **Nephrotic syndrome:** A kidney disease characterized by excessive proteinuria and hypoalbuminemia. 4. **Congenital hypertension:** A condition characterized by high blood pressure in infants and children. In conclusion, the SCNN1D gene plays a critical role in maintaining sodium homeostasis, regulating blood pressure, and facilitating the transport of small molecules across epithelial membranes. Dysfunction of the SCNN1D gene has been implicated in several human diseases, highlighting the importance of this gene in human health and disease. Further research is needed to fully understand the mechanisms of SCNN1D dysfunction and to develop effective treatments for these diseases.

Genular Protein ID: 2119356237

Symbol: SCNND_HUMAN

Name: Amiloride-sensitive sodium channel subunit delta

UniProtKB Accession Codes:

P51172 A6NNF7 A9Z1X6 B1PS44 B3KSD7 Q08AQ3 Q09HT0 Q5T7L3 Q8NA24

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 8 Ensembl 4 ExpressionAtlas 1 GO 15 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 2 RefSeq 4 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7499195

Title: Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel.

PubMed ID: 7499195

DOI: 10.1074/jbc.270.46.27411

PubMed ID: 16423824

Title: Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction.

PubMed ID: 16423824

DOI: 10.1074/jbc.m512293200

PubMed ID: 19520916

Title: Characterization of the epithelial sodium channel delta-subunit in human nasal epithelium.

PubMed ID: 19520916

DOI: 10.1165/rcmb.2009-0053oc

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 22505667

Title: Characterization of a novel splice variant of delta ENaC subunit in human lungs.

PubMed ID: 22505667

DOI: 10.1152/ajplung.00331.2011

PubMed ID: 26772908

Title: Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

PubMed ID: 26772908

DOI: 10.1016/j.gene.2015.12.061

Sequence Information:

  • Length: 802
  • Mass: 87850
  • Checksum: 5CC845DA14F2E6B4
  • Sequence:
    • MRAVLSQKTT PLPRYLWPGH LSGPRRLTWS WCSDHRTPTC RELGSPHPTP CTGPARGWPR 
RGGGPCGFTS AGHVLCGYPL CLLSGPIQGC GTGLGDSSMA FLSRTSPVAA ASFQSRQEAR 
GSILLQSCQL PPQWLSTEAW TGEWKQPHGG ALTSRSPGPV APQRPCHLKG WQHRPTQHNA 
ACKQGQAAAQ TPPRPGPPSA PPPPPKEGHQ EGLVELPASF RELLTFFCTN ATIHGAIRLV 
CSRGNRLKTT SWGLLSLGAL VALCWQLGLL FERHWHRPVL MAVSVHSERK LLPLVTLCDG 
NPRRPSPVLR HLELLDEFAR ENIDSLYNVN LSKGRAALSA TVPRHEPPFH LDREIRLQRL 
SHSGSRVRVG FRLCNSTGGD CFYRGYTSGV AAVQDWYHFH YVDILALLPA AWEDSHGSQD 
GHFVLSCSYD GLDCQARQFR TFHHPTYGSC YTVDGVWTAQ RPGITHGVGL VLRVEQQPHL 
PLLSTLAGIR VMVHGRNHTP FLGHHSFSVR PGTEATISIR EDEVHRLGSP YGHCTAGGEG 
VEVELLHNTS YTRQACLVSC FQQLMVETCS CGYYLHPLPA GAEYCSSARH PAWGHCFYRL 
YQDLETHRLP CTSRCPRPCR ESAFKLSTGT SRWPSAKSAG WTLATLGEQG LPHQSHRQRS 
SLAKINIVYQ ELNYRSVEEA PVYSVPQLLS AMGSLCSLWF GASVLSLLEL LELLLDASAL 
TLVLGGRRLR RAWFSWPRAS PASGASSIKP EASQMPPPAG GTSDDPEPSG PHLPRVMLPG 
VLAGVSAEES WAGPQPLETL DT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.