Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	9119
Gene name	Keratin 75
Gene symbol	KRT75
Synonyms (NCBI Gene)	CK-75K6HFK75KB18PFBhK6hf
Chromosome	12
Chromosome location	12q13.13
Summary	This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion

SNP ID	Visualize variation	Clinical significance	Consequence
rs2232387	C>T	Not-provided, risk-factor	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023996	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT1101482	hsa-miR-1321	CLIP-seq
MIRT1101483	hsa-miR-3689d	CLIP-seq
MIRT1101484	hsa-miR-4419a	CLIP-seq
MIRT1101485	hsa-miR-4510	CLIP-seq
MIRT1101486	hsa-miR-4633-3p	CLIP-seq
MIRT1101487	hsa-miR-4728-5p	CLIP-seq
MIRT1101488	hsa-miR-4739	CLIP-seq
MIRT1101489	hsa-miR-4756-5p	CLIP-seq
MIRT1101490	hsa-miR-516b	CLIP-seq
MIRT2027584	hsa-miR-1256	CLIP-seq
MIRT2027585	hsa-miR-4461	CLIP-seq
MIRT2027586	hsa-miR-4720-5p	CLIP-seq
MIRT2027587	hsa-miR-4799-3p	CLIP-seq
MIRT2027588	hsa-miR-490-3p	CLIP-seq
MIRT2027589	hsa-miR-549	CLIP-seq
MIRT2390033	hsa-miR-198	CLIP-seq
MIRT2390034	hsa-miR-3173-3p	CLIP-seq
MIRT2390035	hsa-miR-4533	CLIP-seq
MIRT2390036	hsa-miR-4725-5p	CLIP-seq
MIRT2390037	hsa-miR-4751	CLIP-seq
MIRT2390038	hsa-miR-504	CLIP-seq
MIRT2390039	hsa-miR-642b	CLIP-seq
MIRT2390040	hsa-miR-765	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0005198	Function	Structural molecule activity	TAS	9856802
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IDA	15086549
GO:0005882	Component	Intermediate filament	IEA
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0031424	Process	Keratinization	IBA
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
609025	24431	ENSG00000170454

O95678

Protein name

Keratin, type II cytoskeletal 75 (Cytokeratin-75) (CK-75) (Keratin-6 hair follicle) (hK6hf) (Keratin-75) (K75) (Type II keratin-K6hf) (Type-II keratin Kb18)

Protein function

Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00038	Filament	148 → 461	Intermediate filament protein	Coiled-coil
PF16208	Keratin_2_head	16 → 145	Keratin type II head	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companion layer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath (ORS) cells and the i

Sequence

MSRQSSITFQSGSRRGFSTTSAITPAAGRSRFSSVSVARSAAGSGGLGRISSAGASFGSR
SLYNLGGAKRVSINGCGSSCRSGFGGRASNRFGVNSGFGYGGGVGGGFSGPSFPVCPPGG
IQEVTVNQSLLTPLHLQIDPTIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETK
WALLQEQGSRTVRQNLEPLFDSYTSELRRQLESITTERGRLEAELRNMQDVVEDFKVRYE
DEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKSLPEEINFIHSVFDAELSQLQTQVG
DTSVVLSMDNNRNLDLDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDL
RNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQTAIADAEQRGELALKDARAKLVDLEEAL
QKAKQDMARLLREYQELMNIKLALDVEIATYRKLLEGEECRLSGEGVSPVNISVVTSTLS
SGYGSGSSIGGGNLGLGGGSGYSFTTSGGHSLGAGLGGSGFSATSNRGLGGSGSSVKFVS
TTSSSQKSYTH

Sequence length

551

Interactions

View interactions

Reactome Pathway
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)

Phenotype Name	Clinical Significance	Source	Reference	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.
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT75-related disorder	Benign; risk factor; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudofolliculitis barbae	Benign; risk factor	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
Dental Caries	Dental caries	Pubtator	25347471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	31679042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34118380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hair Diseases	Hair Diseases	BEFREE	15086549, 25347471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Loose Anagen Hair Syndrome	Loose Anagen Hair Syndrome	UNIPROT_DG	11939812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30372857, 31679042		★★★★★ ★☆☆☆☆ Found in Text Mining only

KRT75 (keratin 75)

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