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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	147183
Gene name	Keratin 25
Gene symbol	KRT25
Synonyms (NCBI Gene)	ARWH3KRT24IRS1KRT25A
Chromosome	17
Chromosome location	17q21.2
Summary	This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with a

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs766783183	A>G	Pathogenic	Coding sequence variant, missense variant
rs879253749	C>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0007010	Process	Cytoskeleton organization	IDA	26902920
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030855	Process	Epithelial cell differentiation	IBA
GO:0031069	Process	Hair follicle morphogenesis	IBA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0042633	Process	Hair cycle	IDA	21916889
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IPI	32296183
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045109	Process	Intermediate filament organization	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	26902920
GO:0046982	Function	Protein heterodimerization activity	IMP	28899683
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
616646	30839	ENSG00000204897

Q7Z3Z0

Protein name

Keratin, type I cytoskeletal 25 (Cytokeratin-25) (CK-25) (Keratin-25) (K25) (Keratin-25A) (K25A) (Type I inner root sheath-specific keratin-K25irs1)

Protein function

Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cytoskeleton organization (PubMed:26902920). {E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00038	Filament	78 → 393	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in skin and scalp, and weak expression observed in thymus and tongue. In the hair follicle, expressed in Henle layer, Huxley layer and in the inner root sheath cuticle of the hair follicle. Expression extends from th

Sequence

MSLRLSSASRRSCPRPTTGSLRLYGGGTSFGTGNSCGISGIGSGFSSAFGGSSSGGNTGG
GNPCAGFTVNERGLLSGNEKVTMQNLNDRLASYLDSVHALEEANADLEQKIKGWYEKFGP
GSCRGLDHDYSRYFPIIDDLKNQIIASTTSNANAVLQIDNARLTADDFRLKYENELALHQ
SVEADVNGLRRVLDEITLCRTDLEIQYETLSEEMTYLKKNHKEEMQVLQCAAGGNVNVEM
NAAPGVDLTVLLNNMRAEYEALAEQNRRDAEAWFNEKSASLQQQISEDVGATTSARNELT
EMKRTLQTLEIELQSLLATKHSLECSLTETESNYCAQLAQIQAQIGALEEQLHQVRTETE
GQKLEYEQLLDIKLHLEKEIETYCLLIGGDDGACKSGGYKSKDYGSGNVGSQVKDPAKAI
VVKKVLEEVDQRSKILTTRLHSLEEKSQSN

Sequence length

450

Interactions

View interactions

	KEGG		Reactome
	Estrogen signaling pathway Staphylococcus aureus infection		Keratinization Formation of the cornified envelope

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal Recessive Hypotrichosis with Woolly Hair	Pathogenic	rs879253749	RCV000234939	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotrichosis 8	Pathogenic	rs766783183	RCV000201248	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wooly hair, autosomal recessive 3	Pathogenic	rs766783183, rs879253749	RCV000203575 RCV000490551	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT25-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, AUTOSOMAL RECESSIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	31373687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clastothrix	Clastothrix	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	29686323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	27377700		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	BEFREE	26902920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	26902920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	29686323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOTRICHOSIS 8	Hypotrichosis	CLINVAR_DG	26160856		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periodontitis	Periodontitis	Pubtator	37466550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Woolly hair congenital	Woolly hair	Pubtator	26160856	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Woolly Hair, Autosomal Recessive	Woolly hair	BEFREE	26160856		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Woolly Hair, Autosomal Recessive	Woolly hair	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3	Woolly hair	UNIPROT_DG	26160856, 26902920, 28899683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3	Woolly hair	GENOMICS_ENGLAND_DG	26160856		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3	Woolly hair	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Woolly hair, congenital	Woolly hair	ORPHANET_DG	26160856		★★★★★ ★☆☆☆☆ Found in Text Mining only

KRT25 (keratin 25)