DSG4 - desmoglein 4 Gene

Also Known as LAH; HYPT6; CDGF13; CDHF13

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 147409

About DSG4

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:31,376,777-31,414,909 (from NCBI)

This gene has 2 transcripts (splice variants), 384 orthologues, 6 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of the desmoglein subgroup of desmosomal Cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]

DSG4 Products (2)

mRNA	Protein	Name
NM_001134453.3	NP_001127925.1	desmoglein-4 isoform 1 precursor
NM_177986.5	NP_817123.1	desmoglein-4 isoform 2 preproprotein

DSG4 Protein Structure

Cadherin

Cadherin_C

0
200
400
600
800
1040 a.a.

Protein Preferred Names	Protein Names
desmoglein-4	cadherin family member 13

Related Diseases

Diseases	Alias
Hypotrichosis 6	HYPT6 Lah1 Hypotrichosis, Localized, Autosomal Recessive Monilethrix-Like Hypotrichosis Hypotrichosis, Localized, Autosomal Recessive 1 Lah Htl Autosomal Recessive Localized Hypotrichosis Hypotrichosis Localized Autosomal Recessive Hypotrichosis Localized Autosomal Recessive 1 Hypotrichosis, Type 6
Monilethrix	Beaded Hair MNLIX Nodose Hair Moniliform Hair Syndrome
Hypotrichosis Simplex	Hereditary Hypotrichosis Simplex Hhs
Hypotrichosis
Pemphigus
Pemphigus Vulgaris, Familial	Pemphigus Vulgaris Familial Pemphigus Vulgaris Pemphigus
Pemphigus Foliaceus	Pemphigus Foliaceous Pf Superficial Pemphigus
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	HJMD Congenital Hypotrichosis With Juvenile Macular Dystrophy Hypotrichosis With Cone-Rod Dystrophy Hypotrichosis With Juvenile Macular Dystrophy Juvenile Macular Degeneration And Hypotrichosis Juvenile Macular Dystrophy And Congenital Hypotrichosis Hypotrichosis With Juvenile Macular Degeneration Hypotrichosis Congenital With Juvenile Macular Dystrophy
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Ritter'S Disease	Staphylococcal Scalded Skin Syndrome Pemphigus Neonatorum Ritter Disease Dermatitis Exfoliativa Neonatorum Scalded Skin Syndrome Toxic Epidermal Necrolysis, Subcorneal Type Generalized Exfoliative Disease Ssss Ssss - [Staphylococcal Scalded Skin Syndrome]
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Winged Helix Deficiency Alymphoid Cystic Thymic Dysgenesis Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome Pignata Guarino Syndrome TIDAND T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy Congenital Alopecia And Nail Dystrophy Associated With Severe Functional T-Cell Immunodeficiency Severe Combined Immunodeficiency Due To Foxn1 Deficiency Foxn1 Deficiency Nude/Scid Nude/Severe Combined Immunodeficiency Scid Due To Foxn1 Deficiency Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy
Atrichia With Papular Lesions	Papular Atrichia APL Congenital Atrichia
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Orofacial Cleft 7 Zlotogora-Ogur Syndrome CLPED1 Ectodermal Dysplasia, Margarita Island Type Ed4 Cleft Lip-Palate-Ectodermal Dysplasia Syndrome Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate Ectodermal Dysplasia 4 Ectodermal Dysplasia Margarita Type Ectodermal Dysplasia, Type 4 Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly Margarita Type Of Ectodermal Dysplasia Zlotogora-Zilberman-Tenenbaum Syndrome Ectd4 Ectodermal Dysplasia 4, Hair/Nail Type EDMI Ectodermal Dysplasia Type 4 Margarita Island Ectodermal Dysplasia Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate Non-Syndromic Orofacial Cleft 7 OFC7 Non-Syndromic Cleft Lip/Palate 7 Non-Syndromic Cleft Lip With Or Without Cleft Palate 7
Hypotrichosis 2	HYPT2 Hypotrichosis Simplex Of The Scalp 1 Htss1 Htss Hypotrichosis, Spanish Type Spanish Type Hypotrichosis Hypotrichosis Spanish Type Hypotrichosis, Type 2 Hypotrichosis Simplex Of Scalp
Hypotrichosis 8	HYPT8 Lah3 Hypotrichosis, Localized, Autosomal Recessive 3 Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis Hypotrichosis Localized Autosomal Recessive 3 Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis ARWH1 Hypotrichosis, Type 8
Hypotrichosis 7	Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis HYPT7 Hypotrichosis, Localized, Autosomal Recessive 2 Lah2 Ah Total Hypotrichosis, Mari Type Wh/Ht Hypotrichosis, Autosomal Recessive Hypotrichosis, Total, Mari Type Woolly Hair, Autosomal Recessive 2 With Or Without Hypotrichosis Total Mari Type Hypotrichosis Alopecia Universalis Congenita, Mari Type Mari Type Alopecia Universalis Congenita Autosomal Recessive Hypotrichosis Autosomal Recessive Localized Hypotrichosis Autosomal Recessive Woolly Hair With Or Without Hypotrichosis Htl Hypotrichoses Hypotrichosis Lah Alopecia Universalis Congenita Mari Type Hypotrichosis Autosomal Recessive Hypotrichosis Localized Autosomal Recessive 2 Total Hypotrichosis Mari Type Woolly Hair Autosomal Recessive 2 ARWH2 Woolly Hair Autosomal Recessive 2 With Or Without Hypotrichosis
Naxos Disease	Mal De Naxos NXD Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities Kwwh Type I Keratoderma With Woolly Hair Type I Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy
Ectodermal Dysplasia 5, Hair/Nail Type	ECTD5 Ectodermal Dysplasia 5
Ectodermal Dysplasia 6, Hair/Nail Type	ECTD6 Ectodermal Dysplasia 6
Ectodermal Dysplasia 7, Hair/Nail Type	ECTD7 Ectodermal Dysplasia 7 Dysplasia, Ectodermal, Type 7, Hair/Nail
Hypotrichosis 11	HYPT11 Hypotrichosis, Type 11
Familial Woolly Hair Syndrome	Wooly Hair Familial Wooly Hair Syndrome Hereditary Woolly Hair Syndrome Hereditary Wooly Hair Syndrome Woolly Hair Syndrome With Woolly Hair Wooly Hair Syndrome
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Eem Syndrome Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy EEMS Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy Syndrome Albrectsen-Svendsen Syndrome Ohdo-Hirayama-Terawaki Syndrome Dysplasia, Ectodermal, Ectrodactyly, And Macular Dystrophy
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic Palmoplantar Keratoderma NEPPK Tylosis Unna-Thost Syndrome Keratoderma, Palmoplantar, Diffuse Ppkne Keratoderma, Nonepidermolytic Palmoplantar Diffuse Nonepidermolytic Palmomplantar Keratoderma Thost-Unna Syndrome Non-Epidermolytic Palmoplantar Keratoderma Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type Diffuse Palmoplantar Keratoderma, Bothnian Type Krt1-Related Diffuse Nonepidermolytic Keratoderma Krt1-Related Diffuse Neppk Keratoderma, Palmoplantar, Non-Epidermolytic Nonepidermolytic Unna-Thost Disease Non-Epidermolytic Unna-Thost Disease Keratoderma, Palmoplantar, Nonepidermolytic Hyperkeratosis
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Carvajal Syndrome Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair DCWHK Dilated Cardiomyopathy With Woolly Hair And Keratoderma Cardiomyopathy Dilated With Woolly Hair And Keratoderma Kwwh Type Ii Keratoderma With Woolly Hair Type Ii Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy Cardiomyopathy, Dilated With Woolly Hair And Keratoderma
Benign Chronic Pemphigus	Hailey-Hailey Disease Pemphigus, Benign Familial Familial Benign Pemphigus Benign Familial Pemphigus Familial Benign Chronic Pemphigus BCPM HHD Benign Chronic Familial Pemphigus Of Hailey-Hailey Pemphigus, Chronic, Benign
Darier-White Disease	Keratosis Follicularis Darier Disease Darier'S Disease DAR DD Darier White Disease Darier Disease Acral Hemorrhagic Type Darier Disease Segmental Darier Disease, Acral Hemorrhagic Type Darier Disease, Segmental
Impetigo
Hypotrichosis 13	HYPT13 Hypotrichosis With Woolly Hair Hypotrichosis, Type 13
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic Right Ventricular Dysplasia 9 ARVD9 Arrhythmogenic Right Ventricular Cardiomyopathy 9 Arvc9 Familial Arrhythmogenic Right Ventricular Dysplasia 9 Dysplasia, Arrhythmogenic Right Ventricular, Type 9
Ectodermal Dysplasia 4, Hair/Nail Type	Pure Hair And Nail Ectodermal Dysplasia ECTD4 Ectodermal Dysplasia, Pure Hair-Nail Type Ectodermal Dysplasia, 'Pure' Hair/Nail Type Hned Hair-Nail Ectodermal Dysplasia Phned Ectodermal Dysplasia Pure Hair-Nail Type Ectodermal Dysplasia, 'Pure' Hair-Nail Type Dysplasia, Ectodermal, Type 4, Hair/Nail
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04024	DSG4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19127	Dsg4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25617	Dsg4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DSG4	VGNC	VGNC:71878
Canis familiaris	DSG4	VGNC	VGNC:40108
Rattus norvegicus	DSG4	RGD	RGD:735015
Mus musculus	DSG4	MGD	MGI:2661061
Bos taurus	DSG4	VGNC	VGNC:28223
Felis catus	DSG4	VGNC	VGNC:61638
Others	DSG4	NCBI