Details for: DSC3

Gene ID: 1825

Symbol: DSC3

Ensembl ID: ENSG00000134762

Description: desmocollin 3

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: stem cell of epidermis (CL1000428)
    Fold Change: 24.2803
    Cell Significance Index: 72.2100
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 15.6843
    Cell Significance Index: 35.3600
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 5.3404
    Cell Significance Index: 45.8900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.4498
    Cell Significance Index: 96.4100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 3.4390
    Cell Significance Index: 110.1500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 3.3227
    Cell Significance Index: 203.7200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.9069
    Cell Significance Index: 41.3800
  • Cell Name: granular cell of epidermis (CL0002189)
    Fold Change: 2.9014
    Cell Significance Index: 3.3400
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 2.5958
    Cell Significance Index: 18.6800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 2.4763
    Cell Significance Index: 1094.8500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.0334
    Cell Significance Index: 54.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.0298
    Cell Significance Index: 55.2500
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.7170
    Cell Significance Index: 29.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.7030
    Cell Significance Index: 120.4400
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.4577
    Cell Significance Index: 12.9400
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.2909
    Cell Significance Index: 31.2700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.1240
    Cell Significance Index: -2.4600
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 1.0202
    Cell Significance Index: 1.3200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.9553
    Cell Significance Index: 181.8000
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.9531
    Cell Significance Index: 5.8800
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.9196
    Cell Significance Index: 11.6400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5700
    Cell Significance Index: 56.3900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5611
    Cell Significance Index: 29.1500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5082
    Cell Significance Index: 458.8600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4839
    Cell Significance Index: 10.3100
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.3587
    Cell Significance Index: 2.2200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3489
    Cell Significance Index: 37.9500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3239
    Cell Significance Index: 52.6800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2737
    Cell Significance Index: 16.4300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2516
    Cell Significance Index: 6.2900
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.1969
    Cell Significance Index: 1.8700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1723
    Cell Significance Index: 11.9200
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.1234
    Cell Significance Index: 1.3500
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.1020
    Cell Significance Index: 1.1400
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.0693
    Cell Significance Index: 0.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0660
    Cell Significance Index: 8.1200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0376
    Cell Significance Index: 6.7800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0187
    Cell Significance Index: 0.2900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0053
    Cell Significance Index: 0.6800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0038
    Cell Significance Index: 0.1800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0017
    Cell Significance Index: -0.0500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0026
    Cell Significance Index: -4.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0029
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0036
    Cell Significance Index: -2.6600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0046
    Cell Significance Index: -0.1600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0047
    Cell Significance Index: -8.7600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0055
    Cell Significance Index: -8.4900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0062
    Cell Significance Index: -8.4200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0068
    Cell Significance Index: -5.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0080
    Cell Significance Index: -4.3500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0102
    Cell Significance Index: -6.5000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0117
    Cell Significance Index: -0.1600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0119
    Cell Significance Index: -6.6900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0121
    Cell Significance Index: -2.4400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0128
    Cell Significance Index: -4.5900
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0139
    Cell Significance Index: -0.1900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0158
    Cell Significance Index: -7.1900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0166
    Cell Significance Index: -0.3600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0171
    Cell Significance Index: -0.4400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0220
    Cell Significance Index: -4.3700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0238
    Cell Significance Index: -6.8400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0274
    Cell Significance Index: -5.7800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0309
    Cell Significance Index: -5.2800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0313
    Cell Significance Index: -3.6500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0379
    Cell Significance Index: -1.5500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0399
    Cell Significance Index: -5.8000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0461
    Cell Significance Index: -4.7100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0519
    Cell Significance Index: -7.1300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0565
    Cell Significance Index: -6.4700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0614
    Cell Significance Index: -6.3900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0707
    Cell Significance Index: -3.5700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0824
    Cell Significance Index: -4.6200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0834
    Cell Significance Index: -1.7300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0863
    Cell Significance Index: -5.8000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0919
    Cell Significance Index: -6.8500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0948
    Cell Significance Index: -4.1200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0986
    Cell Significance Index: -7.5700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0993
    Cell Significance Index: -4.6300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1015
    Cell Significance Index: -2.5400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1235
    Cell Significance Index: -3.3100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1300
    Cell Significance Index: -7.9900
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.1342
    Cell Significance Index: -1.1100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1368
    Cell Significance Index: -5.0200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1549
    Cell Significance Index: -5.4300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1639
    Cell Significance Index: -2.4700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1646
    Cell Significance Index: -2.3900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1718
    Cell Significance Index: -2.4600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1740
    Cell Significance Index: -3.7200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1753
    Cell Significance Index: -5.7400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1840
    Cell Significance Index: -5.8600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1951
    Cell Significance Index: -5.1300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1959
    Cell Significance Index: -5.2400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1978
    Cell Significance Index: -8.7500
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.2010
    Cell Significance Index: -4.0900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2017
    Cell Significance Index: -7.0100
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.2028
    Cell Significance Index: -1.2600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2032
    Cell Significance Index: -5.8000
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.2117
    Cell Significance Index: -1.3200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2165
    Cell Significance Index: -2.4600
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.2272
    Cell Significance Index: -2.9400

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:** DSC3 is a type II transmembrane protein, consisting of an extracellular domain, a transmembrane domain, and a cytoplasmic tail. The extracellular domain of DSC3 is characterized by a unique structure, with a short N-terminal sequence and a long C-terminal sequence that interacts with the cytoplasmic domain of desmoglein 3, another desmocollin protein. This interaction is crucial for the formation of desmosomes and the maintenance of cell-cell adhesion. **Pathways and Functions:** DSC3 is involved in several key pathways, including: 1. **Cell-cell adhesion**: DSC3 mediates homophilic cell adhesion via the desmosomal adhesion complex, ensuring the integrity of the epithelial barrier. 2. **Keratinization**: DSC3 is essential for the formation of the cornified envelope, a specialized layer of the epidermis that provides mechanical strength and resistance to external stresses. 3. **Developmental biology**: DSC3 is required for proper development and patterning of epithelial tissues, including the skin, cornea, and respiratory tract. 4. **Calcium ion binding**: DSC3 interacts with calcium ions, which are essential for the assembly and stabilization of desmosomes. **Clinical Significance:** Dysregulation of DSC3 has been implicated in various diseases, including: 1. **Epidermolysis bullosa**: A group of genetic disorders characterized by skin blistering and fragility, often caused by mutations in the genes encoding desmocollins, including DSC3. 2. **Cancer**: DSC3 has been identified as a potential oncogene, with its overexpression linked to increased cell proliferation and metastasis in certain types of cancer, including breast and lung cancer. 3. **Neurological disorders**: DSC3 has been implicated in the pathogenesis of certain neurological disorders, including Alzheimer's disease and frontotemporal dementia. In conclusion, DSC3 is a critical protein that plays a pivotal role in maintaining epithelial barrier function, regulating cell adhesion, and promoting keratinization. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding the mechanisms of DSC3 in normal and pathological conditions.

Genular Protein ID: 2306803720

Symbol: DSC3_HUMAN

Name: Desmocollin-3

UniProtKB Accession Codes:

Q14574 A6NN35 Q14200 Q9HAZ9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 2 ExpressionAtlas 1 GO 15 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 3 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 2 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7929347

Title: cDNA cloning and expression of a novel human desmocollin.

PubMed ID: 7929347

DOI: 10.1016/s0021-9258(18)47193-1

PubMed ID: 7665906

Title: The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms.

PubMed ID: 7665906

DOI: 10.1111/1523-1747.ep12319935

PubMed ID: 11027496

Title: Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3.

PubMed ID: 11027496

DOI: 10.1006/bbrc.2000.3500

PubMed ID: 16177791

Title: DNA sequence and analysis of human chromosome 18.

PubMed ID: 16177791

DOI: 10.1038/nature03983

PubMed ID: 19765682

Title: A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

PubMed ID: 19765682

DOI: 10.1016/j.ajhg.2009.08.015

Sequence Information:

  • Length: 896
  • Mass: 99969
  • Checksum: 6685B0A8B4C1ED85
  • Sequence:
    • MAAAGPRRSV RGAVCLHLLL TLVIFSRAGE ACKKVILNVP SKLEADKIIG RVNLEECFRS 
ADLIRSSDPD FRVLNDGSVY TARAVALSDK KRSFTIWLSD KRKQTQKEVT VLLEHQKKVS 
KTRHTRETVL RRAKRRWAPI PCSMQENSLG PFPLFLQQVE SDAAQNYTVF YSISGRGVDK 
EPLNLFYIER DTGNLFCTRP VDREEYDVFD LIAYASTADG YSADLPLPLP IRVEDENDNH 
PVFTEAIYNF EVLESSRPGT TVGVVCATDR DEPDTMHTRL KYSILQQTPR SPGLFSVHPS 
TGVITTVSHY LDREVVDKYS LIMKVQDMDG QFFGLIGTST CIITVTDSND NAPTFRQNAY 
EAFVEENAFN VEILRIPIED KDLINTANWR VNFTILKGNE NGHFKISTDK ETNEGVLSVV 
KPLNYEENRQ VNLEIGVNNE APFARDIPRV TALNRALVTV HVRDLDEGPE CTPAAQYVRI 
KENLAVGSKI NGYKAYDPEN RNGNGLRYKK LHDPKGWITI DEISGSIITS KILDREVETP 
KNELYNITVL AIDKDDRSCT GTLAVNIEDV NDNPPEILQE YVVICKPKMG YTDILAVDPD 
EPVHGAPFYF SLPNTSPEIS RLWSLTKVND TAARLSYQKN AGFQEYTIPI TVKDRAGQAA 
TKLLRVNLCE CTHPTQCRAT SRSTGVILGK WAILAILLGI ALLFSVLLTL VCGVFGATKG 
KRFPEDLAQQ NLIISNTEAP GDDRVCSANG FMTQTTNNSS QGFCGTMGSG MKNGGQETIE 
MMKGGNQTLE SCRGAGHHHT LDSCRGGHTE VDNCRYTYSE WHSFTQPRLG EKLHRCNQNE 
DRMPSQDYVL TYNYEGRGSP AGSVGCCSEK QEEDGLDFLN NLEPKFITLA EACTKR

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.