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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	121391
Gene name	Keratin 74
Gene symbol	KRT74
Synonyms (NCBI Gene)	ADWHECTD7HTSS2HYPT3K6IRS4KRT5CKRT6IRS4
Chromosome	12
Chromosome location	12q13.13
Summary	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inn

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs147962513	A>G	Benign, pathogenic	Missense variant, coding sequence variant
rs267607205	G>A,C,T	Pathogenic, not-provided	Missense variant, synonymous variant, coding sequence variant
rs267607477	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs267607478	C>T	Pathogenic, not-provided	Splice acceptor variant

Show/Hide all (39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT642686	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT642685	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT642684	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT642683	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT642682	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT642681	hsa-miR-4470	HITS-CLIP	23824327
MIRT642680	hsa-miR-4651	HITS-CLIP	23824327
MIRT642679	hsa-miR-608	HITS-CLIP	23824327
MIRT642678	hsa-miR-3688-5p	HITS-CLIP	23824327
MIRT642677	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT642686	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT642685	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT642684	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT642683	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT642682	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT642681	hsa-miR-4470	HITS-CLIP	23824327
MIRT642680	hsa-miR-4651	HITS-CLIP	23824327
MIRT642679	hsa-miR-608	HITS-CLIP	23824327
MIRT642678	hsa-miR-3688-5p	HITS-CLIP	23824327
MIRT642677	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT1101465	hsa-miR-1262	CLIP-seq
MIRT1101466	hsa-miR-1293	CLIP-seq
MIRT1101467	hsa-miR-3121-3p	CLIP-seq
MIRT1101468	hsa-miR-3166	CLIP-seq
MIRT1101469	hsa-miR-3173-3p	CLIP-seq
MIRT1101470	hsa-miR-3190	CLIP-seq
MIRT1101471	hsa-miR-3689d	CLIP-seq
MIRT1101472	hsa-miR-4318	CLIP-seq
MIRT1101473	hsa-miR-4438	CLIP-seq
MIRT1101474	hsa-miR-4455	CLIP-seq
MIRT1101475	hsa-miR-4483	CLIP-seq
MIRT1101476	hsa-miR-4701-3p	CLIP-seq
MIRT1101477	hsa-miR-4769-3p	CLIP-seq
MIRT1101478	hsa-miR-609	CLIP-seq
MIRT1101479	hsa-miR-642b	CLIP-seq
MIRT1101480	hsa-miR-644	CLIP-seq
MIRT1101481	hsa-miR-7	CLIP-seq
MIRT2258944	hsa-miR-1273e	CLIP-seq
MIRT2258945	hsa-miR-636	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IDA	20346438
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
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:0045104	Process	Intermediate filament cytoskeleton organization	IDA	20346438
GO:0045109	Process	Intermediate filament organization	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1990254	Function	Keratin filament binding	IPI	20346438

MIM	HGNC	e!Ensembl
608248	28929	ENSG00000170484

Q7RTS7

Protein name

Keratin, type II cytoskeletal 74 (Cytokeratin-74) (CK-74) (Keratin-5c) (K5C) (Keratin-74) (K74) (Type II inner root sheath-specific keratin-K6irs4) (Type-II keratin Kb37)

Protein function

Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16208	Keratin_2_head	2 → 136	Keratin type II head	Family
PF00038	Filament	139 → 452	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in hair follicles from scalp. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS Huxley layer, but not in Henle layer or cuticle of the IRS. In the IRS Huxley la

Sequence

MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRIS
FNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKS
LLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDL
NNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTA
ENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMD
NNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVE
LNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELAR
MLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAG
VDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR

Sequence length

529

Interactions

View interactions

	Reactome
			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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant wooly hair	Pathogenic	rs267607205, rs267607478	RCV000002564 RCV000023696	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotrichosis 3	Pathogenic	rs267607477	RCV000023697	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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
AUTOSOMAL DOMINANT FAMILIAL WOOLY HAIR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia 4, hair/nail type	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia 7, hair/nail type	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOTRICHOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS SIMPLEX OF SCALP	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS SIMPLEX OF THE SCALP	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT74-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, AUTOSOMAL DOMINANT	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	BEFREE	21188418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	24714551		★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE	Ectodermal dysplasia	GENOMICS_ENGLAND_DG	24714551		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE	Ectodermal dysplasia	UNIPROT_DG	24714551		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE	Ectodermal dysplasia	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia	ORPHANET_DG	24714551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hair Diseases	Hair Diseases	BEFREE	21188418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS 3	Hypotrichosis	UNIPROT_DG	21188418		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTRICHOSIS 3	Hypotrichosis	GENOMICS_ENGLAND_DG	21188418, 24714551		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTRICHOSIS 3	Hypotrichosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotrichosis Simplex of Scalp	Hypotrichosis simplex	ORPHANET_DG	21188418		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex of the scalp	Hypotrichosis Simplex Of The Scalp	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Onycholysis	Onycholysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pure hair and nail ectodermal dysplasia	Ectodermal dysplasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Woolly hair congenital	Woolly hair	Pubtator	22592156	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Woolly hair, congenital	Woolly hair	ORPHANET_DG	20346438, 21188418		★★★★★ ★☆☆☆☆ Found in Text Mining only

KRT74 (keratin 74)