Gene DSC2 - ENSG00000134755 | NCBI Gene ID: 1824

Details for: DSC2

Gene ID: 1824

Symbol: DSC2

Ensembl ID: ENSG00000134755

Description: desmocollin 2

Associated with

Developmental biology
(R-HSA-1266738)
Formation of the cornified envelope
(R-HSA-6809371)
Keratinization
(R-HSA-6805567)
Adherens junction
(GO:0005912)
Bundle of his cell-purkinje myocyte adhesion involved in cell communication
(GO:0086073)
Calcium ion binding
(GO:0005509)
Cardiac muscle cell-cardiac muscle cell adhesion
(GO:0086042)
Cell-cell adhesion
(GO:0098609)
Cell adhesion
(GO:0007155)
Cell adhesive protein binding involved in bundle of his cell-purkinje myocyte communication
(GO:0086083)
Cellular response to starvation
(GO:0009267)
Cornified envelope
(GO:0001533)
Cytoplasmic vesicle
(GO:0031410)
Desmosome
(GO:0030057)
Endoplasmic reticulum
(GO:0005783)
Extracellular exosome
(GO:0070062)
Homophilic cell adhesion via plasma membrane adhesion molecules
(GO:0007156)
Intercalated disc
(GO:0014704)
Plasma membrane
(GO:0005886)
Protein binding
(GO:0005515)
Regulation of heart rate by cardiac conduction
(GO:0086091)
Regulation of ventricular cardiac muscle cell action potential
(GO:0098911)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 2.77
Marker Score: 21592
Cell Name: colon epithelial cell (CL0011108)
Fold Change: 2.67
Marker Score: 8397
Cell Name: keratinocyte (CL0000312)
Fold Change: 2.6
Marker Score: 2175
Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 2.5
Marker Score: 21545
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 2.13
Marker Score: 2246
Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 2.12
Marker Score: 7868
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 2.11
Marker Score: 4802
Cell Name: enterocyte (CL0000584)
Fold Change: 2.08
Marker Score: 9968
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 2.02
Marker Score: 2232
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.68
Marker Score: 1676
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 1.63
Marker Score: 6399
Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 1.59
Marker Score: 2820
Cell Name: duct epithelial cell (CL0000068)
Fold Change: 1.55
Marker Score: 724
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 1.49
Marker Score: 9489
Cell Name: mural cell (CL0008034)
Fold Change: 1.47
Marker Score: 168391
Cell Name: endothelial cell of sinusoid (CL0002262)
Fold Change: 1.35
Marker Score: 328
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 1.29
Marker Score: 2119
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 1.28
Marker Score: 317
Cell Name: stem cell (CL0000034)
Fold Change: 1.28
Marker Score: 3032
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 1.16
Marker Score: 673
Cell Name: intestine goblet cell (CL0019031)
Fold Change: 1.15
Marker Score: 1099
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 1.14
Marker Score: 1185
Cell Name: epithelial cell of glomerular capsule (CL1000450)
Fold Change: 1.11
Marker Score: 283
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 1.1
Marker Score: 868
Cell Name: myoepithelial cell of mammary gland (CL0002324)
Fold Change: 1.08
Marker Score: 5315
Cell Name: intestinal crypt stem cell (CL0002250)
Fold Change: 1.05
Marker Score: 394
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 1.04
Marker Score: 251762
Cell Name: elicited macrophage (CL0000861)
Fold Change: 1.03
Marker Score: 6284
Cell Name: lung macrophage (CL1001603)
Fold Change: 1.03
Marker Score: 1173
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71782
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48005
Cell Name: kidney cell (CL1000497)
Fold Change: 0.98
Marker Score: 655
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30405
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.97
Marker Score: 501
Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
Fold Change: 0.96
Marker Score: 232
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.96
Marker Score: 454
Cell Name: epithelial cell (CL0000066)
Fold Change: 0.96
Marker Score: 1522
Cell Name: enterocyte of colon (CL1000347)
Fold Change: 0.95
Marker Score: 1469
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2410
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.94
Marker Score: 1525
Cell Name: paneth cell of colon (CL0009009)
Fold Change: 0.94
Marker Score: 269
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.93
Marker Score: 5322
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.92
Marker Score: 31957
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 0.92
Marker Score: 294
Cell Name: stem cell of epidermis (CL1000428)
Fold Change: 0.92
Marker Score: 310
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2729
Cell Name: Kupffer cell (CL0000091)
Fold Change: 0.89
Marker Score: 894
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.89
Marker Score: 321
Cell Name: Sertoli cell (CL0000216)
Fold Change: 0.88
Marker Score: 5231.5
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5295
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.86
Marker Score: 2097
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.85
Marker Score: 13366
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.85
Marker Score: 647
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.83
Marker Score: 1679
Cell Name: glandular cell of esophagus (CL0002657)
Fold Change: 0.82
Marker Score: 260
Cell Name: alveolar macrophage (CL0000583)
Fold Change: 0.81
Marker Score: 20645
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.79
Marker Score: 900
Cell Name: osteoclast (CL0000092)
Fold Change: 0.78
Marker Score: 391
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.77
Marker Score: 310
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.76
Marker Score: 501
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.75
Marker Score: 389.5
Cell Name: type G enteroendocrine cell (CL0000508)
Fold Change: 0.75
Marker Score: 259
Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 0.74
Marker Score: 2027
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.74
Marker Score: 794.5
Cell Name: granulosa cell (CL0000501)
Fold Change: 0.73
Marker Score: 7395
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.73
Marker Score: 470
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.73
Marker Score: 3058
Cell Name: mammary gland epithelial cell (CL0002327)
Fold Change: 0.73
Marker Score: 258
Cell Name: brush cell (CL0002204)
Fold Change: 0.71
Marker Score: 652
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 0.71
Marker Score: 1184
Cell Name: syncytiotrophoblast cell (CL0000525)
Fold Change: 0.71
Marker Score: 580
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 177
Cell Name: precursor cell (CL0011115)
Fold Change: 0.69
Marker Score: 167
Cell Name: basal cell (CL0000646)
Fold Change: 0.68
Marker Score: 884
Cell Name: acinar cell (CL0000622)
Fold Change: 0.68
Marker Score: 482
Cell Name: large intestine goblet cell (CL1000320)
Fold Change: 0.67
Marker Score: 177
Cell Name: M cell of gut (CL0000682)
Fold Change: 0.67
Marker Score: 173
Cell Name: paneth cell (CL0000510)
Fold Change: 0.66
Marker Score: 461
Cell Name: type A enteroendocrine cell (CL0002067)
Fold Change: 0.66
Marker Score: 265
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.66
Marker Score: 2533
Cell Name: Hofbauer cell (CL3000001)
Fold Change: 0.64
Marker Score: 351
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 0.63
Marker Score: 506
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.63
Marker Score: 2234
Cell Name: enteroendocrine cell (CL0000164)
Fold Change: 0.62
Marker Score: 322
Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
Fold Change: 0.6
Marker Score: 1549
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.6
Marker Score: 1407
Cell Name: Unknown (CL0002371)
Fold Change: 0.59
Marker Score: 627
Cell Name: pulmonary ionocyte (CL0017000)
Fold Change: 0.58
Marker Score: 355
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 0.58
Marker Score: 1204
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.56
Marker Score: 232
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.55
Marker Score: 440
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.55
Marker Score: 227
Cell Name: pancreatic A cell (CL0000171)
Fold Change: 0.54
Marker Score: 532
Cell Name: myeloid cell (CL0000763)
Fold Change: 0.54
Marker Score: 863
Cell Name: type I pneumocyte (CL0002062)
Fold Change: 0.54
Marker Score: 648
Cell Name: germ cell (CL0000586)
Fold Change: 0.54
Marker Score: 937
Cell Name: PP cell (CL0000696)
Fold Change: 0.52
Marker Score: 118
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.52
Marker Score: 168
Cell Name: classical monocyte (CL0000860)
Fold Change: 0.52
Marker Score: 2159
Cell Name: endocardial cell (CL0002350)
Fold Change: 0.52
Marker Score: 292

Hover over a box to see details here...

## Summary DSC2 is a cell adhesion molecule that plays a crucial role in various biological processes, including cell-cell adhesion, cell communication, and tissue morphogenesis. It is expressed in a wide range of cell types, including epithelial cells, cardiac muscle cells, and immune cells. ## Key characteristics * DSC2 is a transmembrane protein with a unique structure that consists of a single extracellular domain and a transmembrane domain. * It is a cadherin family member, which are a large family of cell adhesion molecules that are known for their ability to mediate cell-cell adhesion and cell signaling. * DSC2 is expressed in high levels in epithelial cells, where it plays a crucial role in cell-cell adhesion and tissue morphogenesis. * It is also expressed in cardiac muscle cells, where it is involved in cell-cell adhesion and cardiac conduction. ## Pathways and functions * DSC2 is involved in cell-cell adhesion by binding to cadherins on the surface of neighboring cells. * It is also involved in cell signaling, where it can interact with other cadherins and signaling molecules to regulate cell behavior. * In epithelial cells, DSC2 is essential for the maintenance of cell-cell adhesion and tissue integrity. * It is also involved in cell migration, cell proliferation, and angiogenesis. * In cardiac muscle cells, DSC2 is involved in cell-cell adhesion and cardiac conduction. ## Clinical significance * Mutations in DSC2 have been linked to several human diseases, including cancer, cardiovascular diseases, and developmental disorders. * In cancer, DSC2 mutations can lead to the formation of tumor cells that are resistant to apoptosis (programmed cell death). * In cardiovascular diseases, DSC2 mutations can contribute to the development of heart failure and arrhythmias. * In developmental disorders, DSC2 mutations can lead to a variety of abnormalities, including heart defects, neural tube defects, and kidney abnormalities. ## Conclusion DSC2 is a critical cell adhesion molecule that plays a crucial role in various biological processes, including cell-cell adhesion, cell signaling, and tissue morphogenesis. Mutations in DSC2 have been linked to several human diseases, highlighting its importance in human health.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Cadherin family member 2

Genular Protein ID: 882442586

Symbol: DSC2_HUMAN

Name: Cadherin family member 2

UniProtKB Accession Codes:

Q02487

Database IDs:

Citations:

PubMed ID: 2037591

Title: Desmosomal glycoproteins II and III. Cadherin-like junctional molecules generated by alternative splicing.

PubMed ID: 2037591

DOI: 10.1016/s0021-9258(18)99244-6

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: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 16740002

Title: Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry.

PubMed ID: 16740002

DOI: 10.1021/pr050492k

PubMed ID: 17033975

Title: Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.

PubMed ID: 17033975

DOI: 10.1086/509122

PubMed ID: 19139490

Title: A strategy for precise and large scale identification of core fucosylated glycoproteins.

PubMed ID: 19139490

DOI: 10.1074/mcp.m800504-mcp200

PubMed ID: 21062920

Title: Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.

PubMed ID: 21062920

DOI: 10.1093/cvr/cvq353

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 18678517

Title: A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.

PubMed ID: 18678517

DOI: 10.1016/j.ymgme.2008.06.005

PubMed ID: 20031617

Title: Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PubMed ID: 20031617

DOI: 10.1161/circgenetics.109.858217

PubMed ID: 19863551

Title: Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

PubMed ID: 19863551

DOI: 10.1111/j.1399-0004.2009.01282.x

PubMed ID: 28256248

Title: Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy.

PubMed ID: 28256248

DOI: 10.1016/j.amjcard.2017.01.011

PubMed ID: 33784018

Title: Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy.

PubMed ID: 33784018

DOI: 10.1002/ctm2.319

Sequence Information:

Length: 901
Mass: 99962
Checksum: 30F7E3D33ECA67CC
Sequence:

MEAARPSGSW NGALCRLLLL TLAILIFASD ACKNVTLHVP SKLDAEKLVG RVNLKECFTA 
ANLIHSSDPD FQILEDGSVY TTNTILLSSE KRSFTILLSN TENQEKKKIF VFLEHQTKVL 
KKRHTKEKVL RRAKRRWAPI PCSMLENSLG PFPLFLQQVQ SDTAQNYTIY YSIRGPGVDQ 
EPRNLFYVER DTGNLYCTRP VDREQYESFE IIAFATTPDG YTPELPLPLI IKIEDENDNY 
PIFTEETYTF TIFENCRVGT TVGQVCATDK DEPDTMHTRL KYSIIGQVPP SPTLFSMHPT 
TGVITTTSSQ LDRELIDKYQ LKIKVQDMDG QYFGLQTTST CIINIDDVND HLPTFTRTSY 
VTSVEENTVD VEILRVTVED KDLVNTANWR ANYTILKGNE NGNFKIVTDA KTNEGVLCVV 
KPLNYEEKQQ MILQIGVVNE APFSREASPR SAMSTATVTV NVEDQDEGPE CNPPIQTVRM 
KENAEVGTTS NGYKAYDPET RSSSGIRYKK LTDPTGWVTI DENTGSIKVF RSLDREAETI 
KNGIYNITVL ASDQGGRTCT GTLGIILQDV NDNSPFIPKK TVIICKPTMS SAEIVAVDPD 
EPIHGPPFDF SLESSTSEVQ RMWRLKAIND TAARLSYQND PPFGSYVVPI TVRDRLGMSS 
VTSLDVTLCD CITENDCTHR VDPRIGGGGV QLGKWAILAI LLGIALLFCI LFTLVCGASG 
TSKQPKVIPD DLAQQNLIVS NTEAPGDDKV YSANGFTTQT VGASAQGVCG TVGSGIKNGG 
QETIEMVKGG HQTSESCRGA GHHHTLDSCR GGHTEVDNCR YTYSEWHSFT QPRLGEKVYL 
CNQDENHKHA QDYVLTYNYE GRGSVAGSVG CCSERQEEDG LEFLDNLEPK FRTLAEACMK 
R

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. For the full schema, download it here.

Details for: DSC2

Associated with

Cells (max top 100)

Other Information

Desmosomal glycoproteins II and III. Cadherin-like junctional molecules generated by alternative splicing. PubMed ID: 2037591

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. PubMed ID: 16335952

Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. PubMed ID: 16740002

Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. PubMed ID: 17033975

A strategy for precise and large scale identification of core fucosylated glycoproteins. PubMed ID: 19139490

Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. PubMed ID: 21062920

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. PubMed ID: 18678517

Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. PubMed ID: 20031617

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. PubMed ID: 19863551

Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. PubMed ID: 28256248

Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy. PubMed ID: 33784018