CDSN - corneodesmosin Gene

Also Known as PSS; HTSS; PSS1; HTSS1; HYPT2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1041

About CDSN

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,115,087-31,120,446 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 88 orthologues and is associated with 5 phenotypes. Restricted expression toward skin (RPKM 78.3).

Summary

This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and Other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]

CDSN Products (1)

mRNA	Protein	Name
NM_001264.5	NP_001255.4	corneodesmosin precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15086562	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in amyloid fibril formation	EXP EXP: Inferred from Experiment	20448140	GOA
involved in amyloid fibril formation	IDA IDA: Inferred from direct assay	20448140	GOA
acts upstream of or within cell-cell adhesion	IDA IDA: Inferred from direct assay	11739386	GOA
involved in corneocyte desquamation	IMP IMP: Inferred from mutant phenotype	26014679	GOA
involved in negative regulation of cornification	IMP IMP: Inferred from mutant phenotype	26014679	GOA
involved in skin morphogenesis	IMP IMP: Inferred from mutant phenotype	20691404	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cornified envelope	IDA IDA: Inferred from direct assay	9395522	GOA
located in desmosome	IDA IDA: Inferred from direct assay	11279026	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
corneodesmosin	S protein

Recombinant CDSN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7820	Corneodesmosin/CDSN Protein, Human (HEK293, His)	AAH31993.1 (K33-P528)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Peeling Skin Syndrome 1	Deciduous Skin PSS1 Keratolysis Exfoliativa Congenita Peeling Skin Syndrome Type B Pss Skin Peeling, Familial Continuous Generalized Generalized Deciduous Skin Type B Generalized Peeling Skin Syndrome Type B Inflammatory Peeling Skin Syndrome Pss Type B Skin Peeling Familial Continuous Generalized Skin, Peeling, Syndrome, Type 1 Peeling Skin Syndrome
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 Simplex Of The Scalp	Hereditary Hypotrichosis Simplex Of The Scalp
Peeling Skin Syndrome	Deciduous Skin Familial Continuous Skin Peeling Syndrome Idiopathic Deciduous Skin Keratosis Exfoliativa Congenita Pss Peeling Skin Disease Skin Peeling Syndrome Familial Continuous Skin Peeling Keratolysis Exfoliativa Congenita Exfoliation Syndrome Keratolysis Exfoliativa
Hypotrichosis
Psoriasis
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Psoriasis 9	PSORS9 Psoriasis 9, Susceptibility To Psoriasis Susceptibility 9
Psoriasis 8	PSORS8 Psoriasis Susceptibility 8 Psoriasis 8, Susceptibility To
Psoriasis 7	PSORS7 Psoriasis 7, Susceptibility To Psoriasis Susceptibility 7 Psoriasis Psoriasis Vulgaris Pv
Psoriasis 10	PSORS10 Psoriasis Susceptibility 10 Psoriasis 10, Susceptibility To
Psoriasis 6	PSORS6 Psoriasis Susceptibility 6 Psoriasis 6, Susceptibility To
Psoriasis 4	PSORS4 Psoriasis Susceptibility 4 Psoriasis 4, Susceptibility To
Psoriasis 1	Psoriasis Vulgaris PSORS1 Psoriasis 1, Susceptibility To Psoriasis Susceptibility 1 Psoriasis Pv Psoriasis, Susceptibility To, Type 1
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
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
Psoriasis 5	PSORS5 Psoriasis Susceptibility 5 Psoriasis 5, Susceptibility To
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
Psoriasis 3	PSORS3 Psoriasis Susceptibility 3 Psoriasis 3, Susceptibility To
Ichthyosis Vulgaris	Ichthyosis Simplex Dominant Congenital Ichthyosiform Erythroderma Common Ichthyosis Fish Scale Disease VI Ichthyoses Congenital Ichthyosis
Hypotrichosis 11	HYPT11 Hypotrichosis, Type 11
Netherton Syndrome	NETH Ns Netherton Disease Comel-Netherton Syndrome Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige Bamboo Hair Syndrome Ichthyosis Linearis Circumflexa Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige Ilc Nts N 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
Atrichia With Papular Lesions	Papular Atrichia APL Congenital Atrichia
Dermatitis, Atopic	Atopic Dermatitis Atopic Eczema Dermatitis, Atopic, Susceptibility To, 1 Atod Eczema, Atopic Dermatitis, Atopic 1 Allergic Dermatitis Atopic Neurodermatitis Besnier'S Prurigo Dermatitis, Atopic, 1 Dermatitis Atopic Eczema Besnier Prurigo
Eczema Herpeticum	Herpes Simplex Dermatitis Herpes Simplex Eyelid Dermatitis Kaposi Varicelliform Eruption Herpes Simplex Dermatitis Of Eyelid Herpes Simplex Virus Dermatitis Herpes Simplex Virus Eyelid Dermatitis
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 13	HYPT13 Hypotrichosis With Woolly Hair Hypotrichosis, Type 13
Monilethrix	Beaded Hair MNLIX Nodose Hair Moniliform Hair Syndrome
Pityriasis Rubra Pilaris	PRP Devergie'S Disease Prp - [Pityriasis Rubra Pilaris]
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
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02426	CDSN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-157161	11β-HSD2-IN-1	Inhibitor	/	Unkown
HY-RS18916	Cdsn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25406	Cdsn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CDSN	VGNC	VGNC:27157
Mus musculus	CDSN	MGD	MGI:3505689
Rattus norvegicus	CDSN	RGD	RGD:1598543
Canis familiaris	CDSN	VGNC	VGNC:39082
Macaca mulatta	CDSN	VGNC	VGNC:70996
Others	CDSN	NCBI