DSG4 - desmoglein 4 Gene

Homo sapiens

Also known as LAH; HYPT6; CDGF13; CDHF13

Gene ID: 147409 | Gene type: protein coding

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

Recombinant DSG4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79368	Desmoglein-4 Protein, Human (HEK293, hFc)	Q86SJ6 (E24-A631)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04024	DSG4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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