Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1828
Gene name Gene Name - the full gene name approved by the HGNC.	Desmoglein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DSG1
Synonyms (NCBI Gene) Gene synonyms aliases	CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	EPKHE, PPKS1
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing fo

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs397515639	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs397515640	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397515641	A>T	Pathogenic	Coding sequence variant, stop gained
rs398122949	->C	Pathogenic	Frameshift variant, coding sequence variant
rs398122950	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs398122951	->T	Pathogenic	Frameshift variant, coding sequence variant
rs398122952	G>A	Pathogenic	Splice acceptor variant
rs568609861	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs761241711	T>C,G	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1057518788	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1182196436	C>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1568039793	G>A	Pathogenic	Splice acceptor variant

Show/Hide all(40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019462	hsa-miR-148b-3p	Microarray	17612493
MIRT945966	hsa-miR-1225-5p	CLIP-seq
MIRT945967	hsa-miR-1234	CLIP-seq
MIRT945968	hsa-miR-1245	CLIP-seq
MIRT945969	hsa-miR-1251	CLIP-seq
MIRT945970	hsa-miR-129-5p	CLIP-seq
MIRT945971	hsa-miR-1303	CLIP-seq
MIRT945972	hsa-miR-130a	CLIP-seq
MIRT945973	hsa-miR-130b	CLIP-seq
MIRT945974	hsa-miR-2355-3p	CLIP-seq
MIRT945975	hsa-miR-301a	CLIP-seq
MIRT945976	hsa-miR-301b	CLIP-seq
MIRT945977	hsa-miR-3666	CLIP-seq
MIRT945978	hsa-miR-380	CLIP-seq
MIRT945979	hsa-miR-4295	CLIP-seq
MIRT945980	hsa-miR-4495	CLIP-seq
MIRT945981	hsa-miR-454	CLIP-seq
MIRT945982	hsa-miR-4646-3p	CLIP-seq
MIRT945983	hsa-miR-4671-3p	CLIP-seq
MIRT945984	hsa-miR-4684-5p	CLIP-seq
MIRT945985	hsa-miR-548ag	CLIP-seq
MIRT945986	hsa-miR-548ai	CLIP-seq
MIRT945987	hsa-miR-549	CLIP-seq
MIRT1980024	hsa-miR-4269	CLIP-seq
MIRT1980025	hsa-miR-4514	CLIP-seq
MIRT1980026	hsa-miR-4692	CLIP-seq
MIRT1980027	hsa-miR-4742-5p	CLIP-seq
MIRT1980028	hsa-miR-510	CLIP-seq
MIRT1980024	hsa-miR-4269	CLIP-seq
MIRT1980025	hsa-miR-4514	CLIP-seq
MIRT1980026	hsa-miR-4692	CLIP-seq
MIRT1980027	hsa-miR-4742-5p	CLIP-seq
MIRT1980028	hsa-miR-510	CLIP-seq
MIRT2448542	hsa-miR-2467-3p	CLIP-seq
MIRT2448543	hsa-miR-4257	CLIP-seq
MIRT2448544	hsa-miR-4464	CLIP-seq
MIRT2448545	hsa-miR-4698	CLIP-seq
MIRT2448546	hsa-miR-4748	CLIP-seq
MIRT2448547	hsa-miR-885-3p	CLIP-seq
MIRT2448548	hsa-miR-922	CLIP-seq

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	NAS	1770008
GO:0005515	Function	Protein binding	IPI	19136012, 24965446
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	7983064
GO:0007043	Process	Cell-cell junction assembly	NAS	12485422
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	7983064
GO:0015643	Function	Toxic substance binding	NAS	12582396
GO:0016021	Component	Integral component of membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	1770008
GO:0030057	Component	Desmosome	IBA	21873635
GO:0030057	Component	Desmosome	NAS	1711210
GO:0031424	Process	Keratinization	TAS
GO:0032570	Process	Response to progesterone	IEA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0045295	Function	Gamma-catenin binding	IBA	21873635
GO:0045295	Function	Gamma-catenin binding	IPI	7983064
GO:0050821	Process	Protein stabilization	IDA	7983064
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0070268	Process	Cornification	TAS
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0098609	Process	Cell-cell adhesion	NAS	1711210
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
125670	3048	ENSG00000134760

Protein

UniProt ID

Q02413

Protein name

Desmoglein-1 (Cadherin family member 4) (Desmosomal glycoprotein 1) (DG1) (DGI) (Pemphigus foliaceus antigen)

Protein function

Component of intercellular desmosome junctions (PubMed:34368962). Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion (PubMed:19717567). {ECO:0000269|PubMed:19717567, ECO:0000269|PubMed:34368962

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	54 → 148	Cadherin domain	Domain
PF00028	Cadherin	162 → 260	Cadherin domain	Domain
PF00028	Cadherin	274 → 377	Cadherin domain	Domain
PF01049	Cadherin_C	641 → 765	Cadherin cytoplasmic region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all suprabasal layers of the epidermis, with the highest expression seen in the granular layer (at protein level). {ECO:0000269|PubMed:19717567}.

Sequence

MDWSFFRVVAMLFIFLVVVEVNSEFRIQVRDYNTKNGTIKWHSIRRQKREWIKFAAACRE
GEDNSKRNPIAKIHSDCAANQQVTYRISGVGIDQPPYGIFVINQKTGEINITSIVDREVT
PFFIIYCRALNSMGQDLERPLELRVRVLDINDNPPVFSMATFAGQIEENSNANTLVMILN
ATDADEPNNLNSKIAFKIIRQEPSDSPMFIINRNTGEIRTMNNFLDREQYGQYALAVRGS
DRDGGADGMSAECECNIKILDVNDNIPYMEQSSYTIEIQENTLNSNLLEIRVIDLDEEFS
ANWMAVIFFISGNEGNWFEIEMNERTNVGILKVVKPLDYEAMQSLQLSIGVRNKAEFHHS
IMSQYKLKASAISVTVLNVIEGPVFRPGSKTYVVTGNMGSNDKVGDFVATDLDTGRPSTT
VRYVMGNNPADLLAVDSRTGKLTLKNKVTKEQYNMLGGKYQGTILSIDDNLQRTCTGTIN
INIQSFGNDDRTNTEPNTKITTNTGRQESTSSTNYDTSTTSTDSSQVYSSEPGNGAKDLL
SDNVHFGPAGIGLLIMGFLVLGLVPFLMICCDCGGAPRSAAGFEPVPECSDGAIHSWAVE
GPQPEPRDITTVIPQIPPDNANIIECIDNSGVYTNEYGGREMQDLGGGERMTGFELTEGV
KTSGMPEICQEYSGTLRRNSMRECREGGLNMNFMESYFCQKAYAYADEDEGRPSNDCLLI
YDIEGVGSPAGSVGCCSFIGEDLDDSFLDTLGPKFKKLADISLGKESYPDLDPSWPPQST
EPVCLPQETEPVVSGHPPISPHFGTTTVISESTYPSGPGVLHPKPILDPLGYGNVTVTES
YTTSDTLKPSVHVHDNRPASNVVVTERVVGPISGADLHGMLEMPDLRDGSNVIVTERVIA
PSSSLPTSLTIHHPRESSNVVVTERVIQPTSGMIGSLSMHPELANAHNVIVTERVVSGAG
VTGISGTTGISGGIGSSGLVGTSMGAGSGALSGAGISGGGIGLSSLGGTASIGHMRSSSD
HHFNQTIGSASPSTARSRITKYSTVQYSK

Sequence length

1049

Interactions

View interactions

	KEGG		Reactome
	Staphylococcus aureus infection		Apoptotic cleavage of cell adhesion proteins Neutrophil degranulation Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Dermatitis	Dermatitis, Severe dermatitis, multiple allergies, metabolic wasting syndrome	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	23974871, 27534273
Dermatitis-multiple allergies-metabolic wasting syndrome	Severe dermatitis-multiple allergies-metabolic wasting syndrome	rs398122952, rs398122400, rs1463828394
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819 View all (18 more)
Keratosis palmoplantaris striata	Keratosis palmoplantaris striata 1	rs121912991, rs727504443	27534273
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951 View all (10 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Metabolic diseases	Metabolic Diseases	23974871	ClinVar
Schizophrenia	Schizophrenia		GWAS

Show/Hide Text Mining Associations (60)

Disease Name	Relationship Type	References
Associations from Text Mining
Acantholysis	Associate	17344213, 35058080
Alzheimer Disease	Associate	37304256
Anus Neoplasms	Associate	22333708
Autoimmune Diseases	Associate	19843946
Blister	Associate	12190860, 21075858, 32235430
Body Integrity Identity Disorder	Associate	19157795
Bronchopulmonary Dysplasia	Associate	37147394
Carcinoma Squamous Cell	Associate	22333708, 8664118, 8982400, 9062412
Cholangiocarcinoma	Associate	32850288
Colorectal Neoplasms	Associate	2123114
Crohn Disease	Associate	28490445
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	17194569
Dermatitis	Associate	23974871, 26073755, 34352264
Dermatitis Atopic	Associate	21211653, 37540585
Drug Hypersensitivity	Associate	23974871, 26073755, 34352264
Dyskinesia Familial with Facial Myokymia	Associate	27534273
Eosinophilic Esophagitis	Inhibit	24220297, 28712126
Eosinophilic Esophagitis	Associate	31589979, 39343172
Epidermal Nevus	Associate	31681304
Esophageal Squamous Cell Carcinoma	Associate	32546690, 9062412
Esophagitis	Associate	40284218
Head and Neck Neoplasms	Associate	30655320, 30816522
Hyperostosis corticalis deformans juvenilis	Associate	9339649
Hyperplasia	Associate	32850288
Ichthyosis Vulgaris	Associate	20178468
Impetigo	Associate	21075858
Inflammation	Associate	24220297, 36997112
Inflammation	Inhibit	40334825
Kaposi Varicelliform Eruption	Associate	21211653
Keratoderma Palmoplantar	Associate	27534273, 31443639, 34352264, 35168889
Keratosis palmoplantaris striata 1	Associate	11982762, 17194569, 19157795, 23524970
Lichen Planus Oral	Associate	30146538
Lymphatic Metastasis	Inhibit	9062412
Melanoma	Associate	31563153
Mouth Diseases	Associate	25178305
Neoplasm Invasiveness	Associate	32691230
Neoplasm Metastasis	Associate	30655320, 35054979
Neoplasms	Associate	22333708, 9062412
Neoplasms	Inhibit	30655320, 32850288
Netherton Syndrome	Associate	16628198
Neuroectodermal Tumors Primitive	Associate	15920547
Paget Disease Extramammary	Associate	9339649
Pagetoid Reticulosis	Associate	31563153
Pancreatic Neoplasms	Inhibit	19091121
Peeling Skin Syndrome	Associate	30032785
Pemphigus	Associate	10642599, 12190860, 17392832, 18373702, 19571823, 19843946, 19893475, 20178468, 22449394, 22876746, 24813052, 25178305, 25384535, 26831096, 29740444 View all (21 more)
Pemphigus and fogo selvagem	Associate	10642599, 16972006, 19571823, 8491991
Pigmentation Disorders	Associate	31563153
Polycythemia Vera	Associate	17344213, 20178468
Psoriasis	Associate	31996098
Sarcoma Ewing	Associate	15920547
Skin Diseases	Associate	22936986, 34352264
Squamous Cell Carcinoma of Head and Neck	Inhibit	30655320
Squamous Cell Carcinoma of Head and Neck	Associate	8664118
Staphylococcal Scalded Skin Syndrome	Associate	21075858
Tertiary Lymphoid Structures	Associate	8664118
Tibial Neuropathy	Associate	27534273
Tooth Erosion	Associate	31824479
Vasculitis Leukocytoclastic Cutaneous	Associate	24220297
Wasting Syndrome	Associate	23974871

DSG1 (desmoglein 1)