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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	121391
Gene name Gene Name - the full gene name approved by the HGNC.	Keratin 74
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KRT74
Synonyms (NCBI Gene) Gene synonyms aliases	ADWH, ECTD7, HTSS2, HYPT3, K6IRS4, KRT5C, KRT6IRS4
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Unknown Diseases (3)

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.
Ectodermal Dysplasia	Ectodermal dysplasia 4, hair/nail type	N/A	N/A	ClinVar
Ectodermal dysplasia	pure hair and nail ectodermal dysplasia	N/A	N/A	GenCC
Hypotrichosis Simplex Of The Scalp	hypotrichosis simplex of the scalp	N/A	N/A	GenCC

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Hair Diseases	Associate	22592156, 32927888
Woolly hair congenital	Associate	22592156

KRT74 (keratin 74)