Gene Symbol | DSG2 |
Entrez ID | 1829 |
Uniprot ID | Q14126 |
Description | desmoglein 2 |
Chromosomal Location | chr18: 31,498,043-31,549,008 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0002934 |
desmosome organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a desmosome. A desmosome is a patch-like intercellular junction found in vertebrate tissues, consisting of parallel zones of two cell membranes, separated by an space of 25-35 nm, and having dense fibrillar plaques in the subjacent cytoplasm. |
IMP |
BP |
GO:0003165 |
Purkinje myocyte development |
The process whose specific outcome is the progression of a Purkinje myocyte over time, from its formation to the mature structure. The Purkinje myocyte (also known as cardiac Purkinje fiber) is part of the cardiac conduction system that receives signals from the bundle of His and innervates the ventricular cardiac muscle. |
IMP |
BP |
GO:0007155 |
cell adhesion |
The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
IDA |
BP |
GO:0007156 |
homophilic cell adhesion via plasma membrane adhesion molecules |
The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
IDA |
BP |
GO:0032570 |
response to progesterone |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a progesterone stimulus. |
IEA |
BP |
GO:0060135 |
maternal process involved in female pregnancy |
A reproductive process occurring in the mother that allows an embryo or fetus to develop within it. |
IEA |
BP |
GO:0086073 |
bundle of His cell-Purkinje myocyte adhesion involved in cell communication |
The attachment of a bundle of His cell to a Purkinje myocyte via adhesion molecules that results in the cells being juxtaposed so that they can communicate. |
IMP |
BP |
GO:0086091 |
regulation of heart rate by cardiac conduction |
A cardiac conduction process that modulates the frequency or rate of heart contraction. |
IMP |
BP |
GO:0098911 |
regulation of ventricular cardiac muscle cell action potential |
Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a ventricular cardiac muscle cell contributing to the regulation of its contraction. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
IMP |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
IDA|TAS |
CC |
GO:0005911 |
cell-cell junction |
A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic junctions such as ring canals. |
TAS |
CC |
GO:0009986 |
cell surface |
The external part of the cell wall and/or plasma membrane. |
IDA |
CC |
GO:0014704 |
intercalated disc |
A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
IDA |
CC |
GO:0016021 |
integral component of membrane |
The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IEA |
CC |
GO:0016324 |
apical plasma membrane |
The region of the plasma membrane located at the apical end of the cell. |
IEA |
CC |
GO:0016328 |
lateral plasma membrane |
The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
IEA |
CC |
GO:0030057 |
desmosome |
A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism. |
IDA |
CC |
GO:0070062 |
extracellular exosome |
A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
IDA |
MF |
GO:0005509 |
calcium ion binding |
Interacting selectively and non-covalently with calcium ions (Ca2+). |
IEA |
MF |
GO:0050839 |
cell adhesion molecule binding |
Interacting selectively and non-covalently with a cell adhesion molecule. |
IPI |
MF |
GO:0086083 |
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication |
Interacting selectively and non-covalently with any protein or protein complex that results in the connection of a bundle of His cell with a Purkinje myocyte and contributes to the communication between the two cells. |
IC |
Domain ID | Description |
---|---|
IPR002126 |
Cadherin |
IPR009122 |
Desmosomal cadherin |
IPR009123 |
Desmoglein |
IPR013783 |
Immunoglobulin-like fold |
IPR015919 |
Cadherin-like |
IPR020894 |
Cadherin conserved site |
IPR027397 |
Catenin binding domain |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa05412 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
KEGG |
WP2118 |
Arrhythmogenic Right Ventricular Cardiomyopathy |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0349788 |
Arrhythmogenic Right Ventricular Dysplasia |
C0878544 |
Cardiomyopathies |
C0949658 |
Cardiomyopathy, Hypertrophic, Familial |
Tissue | Cell Type |
---|---|
appendix |
glandular cells |
breast |
glandular cells |
bronchus |
respiratory epithelial cells |
cervix, uterine |
glandular cells |
colon |
glandular cells |
duodenum |
glandular cells |
endometrium |
glandular cells |
gallbladder |
glandular cells |
heart muscle |
myocytes |
placenta |
trophoblastic cells |
prostate |
glandular cells |
rectum |
glandular cells |
small intestine |
glandular cells |
stomach |
glandular cells |
urinary bladder |
urothelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
PLIN3 |
10226 |
O60664 |
0.49 |
ATP1A1 |
476 |
P05023 |
0.63 |
PSEN1 |
5663 |
P49768 |
0.63 |
PKP3 |
11187 |
Q9Y446 |
0.77 |
DSC1 |
1823 |
Q08554 |
0.79 |
DSC2 |
1824 |
Q02487 |
0.87 |
CHCHD2 |
51142 |
Q9Y6H1 |
0.49 |
TMEM216 |
51259 |
Q9P0N5 |
0.49 |
TMEM17 |
200728 |
Q86X19 |
0.49 |
ADRB2 |
154 |
P07550 |
0.63 |
EGFR |
1956 |
P00533 |
0.63 |
JUN |
3725 |
P05412 |
0.63 |
ABCE1 |
6059 |
P61221 |
0.63 |
RYK |
6259 |
P34925 |
0.63 |
EED |
8726 |
O75530 |
0.63 |
SART3 |
9733 |
Q15020 |
0.63 |
CUL7 |
9820 |
Q14999 |
0.63 |
PAN2 |
9924 |
Q504Q3 |
0.63 |
OBSL1 |
23363 |
O75147 |
0.63 |
NCSTN |
23385 |
Q92542 |
0.63 |
CCDC8 |
83987 |
Q9H0W5 |
0.63 |
DBN1 |
1627 |
Q16643 |
0.72 |
FLNA |
2316 |
P21333 |
0.72 |
MYH9 |
4627 |
P35579 |
0.72 |
PDGFRA |
5156 |
P16234 |
0.72 |
IQGAP1 |
8826 |
P46940 |
0.72 |
ACTR2 |
10097 |
P61160 |
0.72 |
SYNPO |
11346 |
Q8N3V7 |
0.72 |
GOLT1B |
51026 |
Q9Y3E0 |
0.72 |
LIMA1 |
51474 |
Q9UHB6 |
0.72 |
MYO5C |
55930 |
Q9NQX4 |
0.72 |
MYO19 |
80179 |
Q96H55 |
0.72 |
MYO18A |
399687 |
Q92614 |
0.72 |
PKP2 |
5318 |
Q99959 |
0.77 |
JUP |
3728 |
P14923 |
0.90 |