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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1041
Gene name Gene Name - the full gene name approved by the HGNC.	Corneodesmosin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CDSN
Synonyms (NCBI Gene) Gene synonyms aliases	HTSS, HTSS1, HYPT2, PSS, PSS1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.	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 pop

Show/Hide all(69)

miRTarBase ID	miRNA	Experiments
MIRT882617	hsa-miR-1	CLIP-seq
MIRT882618	hsa-miR-1208	CLIP-seq
MIRT882619	hsa-miR-1245b-3p	CLIP-seq
MIRT882620	hsa-miR-206	CLIP-seq
MIRT882621	hsa-miR-3125	CLIP-seq
MIRT882622	hsa-miR-3165	CLIP-seq
MIRT882623	hsa-miR-3179	CLIP-seq
MIRT882624	hsa-miR-3180-5p	CLIP-seq
MIRT882625	hsa-miR-3184	CLIP-seq
MIRT882626	hsa-miR-3186-5p	CLIP-seq
MIRT882627	hsa-miR-3202	CLIP-seq
MIRT882628	hsa-miR-3673	CLIP-seq
MIRT882629	hsa-miR-3677-5p	CLIP-seq
MIRT882630	hsa-miR-3916	CLIP-seq
MIRT882631	hsa-miR-3937	CLIP-seq
MIRT882632	hsa-miR-3974	CLIP-seq
MIRT882633	hsa-miR-423-5p	CLIP-seq
MIRT882634	hsa-miR-4252	CLIP-seq
MIRT882635	hsa-miR-4271	CLIP-seq
MIRT882636	hsa-miR-4276	CLIP-seq
MIRT882637	hsa-miR-4318	CLIP-seq
MIRT882638	hsa-miR-4476	CLIP-seq
MIRT882639	hsa-miR-4512	CLIP-seq
MIRT882640	hsa-miR-452	CLIP-seq
MIRT882641	hsa-miR-4656	CLIP-seq
MIRT882642	hsa-miR-4676-3p	CLIP-seq
MIRT882643	hsa-miR-4688	CLIP-seq
MIRT882644	hsa-miR-4697-3p	CLIP-seq
MIRT882645	hsa-miR-4701-5p	CLIP-seq
MIRT882646	hsa-miR-4725-3p	CLIP-seq
MIRT882647	hsa-miR-4778-3p	CLIP-seq
MIRT882648	hsa-miR-4796-3p	CLIP-seq
MIRT882649	hsa-miR-520a-5p	CLIP-seq
MIRT882650	hsa-miR-525-5p	CLIP-seq
MIRT882651	hsa-miR-548t	CLIP-seq
MIRT882652	hsa-miR-588	CLIP-seq
MIRT882653	hsa-miR-613	CLIP-seq
MIRT1961523	hsa-miR-198	CLIP-seq
MIRT1961524	hsa-miR-2110	CLIP-seq
MIRT1961525	hsa-miR-219-2-3p	CLIP-seq
MIRT1961526	hsa-miR-3122	CLIP-seq
MIRT1961527	hsa-miR-3127-5p	CLIP-seq
MIRT1961528	hsa-miR-3144-5p	CLIP-seq
MIRT1961529	hsa-miR-3147	CLIP-seq
MIRT1961530	hsa-miR-3150a-3p	CLIP-seq
MIRT1961531	hsa-miR-3173-3p	CLIP-seq
MIRT1961532	hsa-miR-3191	CLIP-seq
MIRT1961533	hsa-miR-3619-3p	CLIP-seq
MIRT1961534	hsa-miR-3650	CLIP-seq
MIRT1961535	hsa-miR-3692	CLIP-seq
MIRT1961536	hsa-miR-3913-5p	CLIP-seq
MIRT1961537	hsa-miR-3936	CLIP-seq
MIRT1961538	hsa-miR-4425	CLIP-seq
MIRT1961539	hsa-miR-4455	CLIP-seq
MIRT1961540	hsa-miR-4506	CLIP-seq
MIRT1961541	hsa-miR-4533	CLIP-seq
MIRT1961542	hsa-miR-4652-5p	CLIP-seq
MIRT1961543	hsa-miR-4661-3p	CLIP-seq
MIRT1961544	hsa-miR-4685-5p	CLIP-seq
MIRT1961545	hsa-miR-4694-5p	CLIP-seq
MIRT1961546	hsa-miR-4738-3p	CLIP-seq
MIRT1961547	hsa-miR-4747-5p	CLIP-seq
MIRT1961548	hsa-miR-4776-5p	CLIP-seq
MIRT1961549	hsa-miR-4779	CLIP-seq
MIRT1961550	hsa-miR-580	CLIP-seq
MIRT1961551	hsa-miR-609	CLIP-seq
MIRT1961552	hsa-miR-665	CLIP-seq
MIRT1961553	hsa-miR-888	CLIP-seq
MIRT1961554	hsa-miR-936	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA	9395522
GO:0001533	Component	Cornified envelope	TAS
GO:0003336	Process	Corneocyte desquamation	IMP	26014679
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	TAS	9395522
GO:0007155	Process	Cell adhesion	TAS	9395522
GO:0008544	Process	Epidermis development	TAS	9395522
GO:0030057	Component	Desmosome	IDA	11279026, 26014679
GO:0030057	Component	Desmosome	NAS	9395522
GO:0030216	Process	Keratinocyte differentiation	NAS	8415725
GO:0042803	Function	Protein homodimerization activity	IBA
GO:0042803	Function	Protein homodimerization activity	IDA	15086562
GO:0043589	Process	Skin morphogenesis	IEA
GO:0043589	Process	Skin morphogenesis	IMP	20691404, 26014679
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IDA	11739386
GO:1905716	Process	Negative regulation of cornification	IMP	26014679
GO:1990000	Process	Amyloid fibril formation	EXP	20448140
GO:1990000	Process	Amyloid fibril formation	IDA	20448140

MIM	HGNC	e!Ensembl
602593	1802	ENSG00000204539

Protein

UniProt ID

Q15517

Protein name

Corneodesmosin (S protein)

Protein function

Important for the epidermal barrier integrity.

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Exclusively expressed in skin.

Sequence

MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLAKSIGTFSDPCKDPTRITSPNDPCLTGKG
DSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSG
SGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTND
NSYRGILNPSQPGQSSSSSQTSGVSSSGQSVSSNQRPCSSDIPDSPCSGGPIVSHSGPYI
PSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNGGLPGKPCPPITSVDKSYGGYEVVG
GSSDSYLVPGMTYSKGKIYPVGYFTKENPVKGSPGVPSFAAGPPISEGKYFSSNPIIPSQ
SAASSAIAFQPVGTGGVQLCGGGSTGSKGPCSPSSSRVPSSSSISSSSGSPYHPCGSASQ
SPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPS
AGAKPCGSSSAGKIPCRSIRDILAQVKPLGPQLADPEVFLPQGELLDSP

Sequence length

529

Interactions

View interactions

	Reactome
			Formation of the cornified envelope

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hypotrichosis	Hypotrichosis 2	rs121917819, rs121917820	N/A
Peeling Skin Syndrome	Peeling skin syndrome 1	rs387906841, rs672601343, rs606231275, rs1246486951	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Adult asthma	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cleft Palate	Stimulate	28425186
Dermatitis Atopic	Associate	21211653, 27769847
Dermatitis Atopic	Inhibit	35462437
Dyslipidemias	Associate	29879492
Eosinophilia	Associate	35178752
Food Hypersensitivity	Associate	20691404
Head and Neck Neoplasms	Associate	36181011
Hypersensitivity Immediate	Associate	20691404
Hypoalphalipoproteinemias	Associate	29879492
Hypotrichosis simplex	Associate	20691404
Hypotrichosis Simplex of Scalp	Associate	31663161
Ichthyosis Lamellar	Associate	27769847
Ige Responsiveness Atopic	Associate	20691404
Inflammatory Bowel Diseases	Associate	32709981
Kaposi Varicelliform Eruption	Associate	21211653
Leprosy	Associate	34879060
Mouth Neoplasms	Associate	36181011
Neoplasm Metastasis	Associate	35003328
Peeling Skin Syndrome	Associate	20691404, 21307953, 30032785, 31663161, 35178752
Peeling skin syndrome acral type	Associate	22622422
Pruritus	Associate	20691404
Psoriasis	Associate	11454986
Skin Abnormalities	Associate	20691404
Squamous Cell Carcinoma of Head and Neck	Associate	36181011
Trichorrhexis nodosa syndrome	Associate	35178752

CDSN (corneodesmosin)