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.	112802
Gene name Gene Name - the full gene name approved by the HGNC.	Keratin 71
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KRT71
Synonyms (NCBI Gene) Gene synonyms aliases	HYPT13, K6IRS1, KRT6IRS, KRT6IRS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HYPT13
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 gene encodes a protein that is expressed in the inner root sheath of hair follicle

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587777545	A>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(47)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017338	hsa-miR-335-5p	Microarray	18185580
MIRT1101418	hsa-miR-1	CLIP-seq
MIRT1101419	hsa-miR-1293	CLIP-seq
MIRT1101420	hsa-miR-206	CLIP-seq
MIRT1101421	hsa-miR-3192	CLIP-seq
MIRT1101422	hsa-miR-3673	CLIP-seq
MIRT1101423	hsa-miR-3922-5p	CLIP-seq
MIRT1101424	hsa-miR-3926	CLIP-seq
MIRT1101425	hsa-miR-4434	CLIP-seq
MIRT1101426	hsa-miR-4438	CLIP-seq
MIRT1101427	hsa-miR-4483	CLIP-seq
MIRT1101428	hsa-miR-4505	CLIP-seq
MIRT1101429	hsa-miR-4516	CLIP-seq
MIRT1101430	hsa-miR-4713-3p	CLIP-seq
MIRT1101431	hsa-miR-4753-5p	CLIP-seq
MIRT1101432	hsa-miR-4795-5p	CLIP-seq
MIRT1101433	hsa-miR-490-5p	CLIP-seq
MIRT1101434	hsa-miR-520a-5p	CLIP-seq
MIRT1101435	hsa-miR-525-5p	CLIP-seq
MIRT1101436	hsa-miR-548s	CLIP-seq
MIRT1101437	hsa-miR-613	CLIP-seq
MIRT1550625	hsa-miR-1321	CLIP-seq
MIRT1550626	hsa-miR-197	CLIP-seq
MIRT1550627	hsa-miR-3177-5p	CLIP-seq
MIRT1550628	hsa-miR-3650	CLIP-seq
MIRT1550629	hsa-miR-4270	CLIP-seq
MIRT1550630	hsa-miR-4441	CLIP-seq
MIRT1550631	hsa-miR-4455	CLIP-seq
MIRT1550632	hsa-miR-4739	CLIP-seq
MIRT1550633	hsa-miR-4756-5p	CLIP-seq
MIRT1550634	hsa-miR-5096	CLIP-seq
MIRT1101421	hsa-miR-3192	CLIP-seq
MIRT1101425	hsa-miR-4434	CLIP-seq
MIRT1101426	hsa-miR-4438	CLIP-seq
MIRT1101428	hsa-miR-4505	CLIP-seq
MIRT1101429	hsa-miR-4516	CLIP-seq
MIRT1101432	hsa-miR-4795-5p	CLIP-seq
MIRT2452765	hsa-miR-4302	CLIP-seq
MIRT2452766	hsa-miR-450b-3p	CLIP-seq
MIRT2452767	hsa-miR-4648	CLIP-seq
MIRT2452768	hsa-miR-4654	CLIP-seq
MIRT1101430	hsa-miR-4713-3p	CLIP-seq
MIRT2452769	hsa-miR-4769-5p	CLIP-seq
MIRT1101434	hsa-miR-520a-5p	CLIP-seq
MIRT1101435	hsa-miR-525-5p	CLIP-seq
MIRT2452770	hsa-miR-638	CLIP-seq
MIRT2452771	hsa-miR-769-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0031069	Process	Hair follicle morphogenesis	IMP	22592156
GO:0031424	Process	Keratinization	TAS
GO:0045095	Component	Keratin filament	IDA	22592156
GO:0045109	Process	Intermediate filament organization	IMP	22592156
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070268	Process	Cornification	TAS

MIM	HGNC	e!Ensembl
608245	28927	ENSG00000139648

Protein

UniProt ID

Q3SY84

Protein name

Keratin, type II cytoskeletal 71 (Cytokeratin-71) (CK-71) (Keratin-71) (K71) (Type II inner root sheath-specific keratin-K6irs1) (Keratin 6 irs) (hK6irs) (hK6irs1) (Type-II keratin Kb34)

Protein function

Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16208	Keratin_2_head	55 → 126	Keratin type II head	Family
PF00038	Filament	129 → 442	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in hair follicles from scalp. Specifically expressed in the inner root sheath (IRS) of the hair follicle. Present in the all 3 IRS layers: the cuticle, the Henle and the Huxley layers. Also detected in the pseudopods o

Sequence

MSRQFTCKSGAAAKGGFSGCSAVLSGGSSSSFRAGSKGLSGGFGSRSLYSLGGVRSLNVA
SGSGKSGGYGFGRGRASGFAGSMFGSVALGPVCPTVCPPGGIHQVTVNESLLAPLNVELD
PEIQKVRAQEREQIKALNNKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKNNLEPI
LEGYISNLRKQLETLSGDRVRLDSELRNVRDVVEDYKKRYEEEINKRTAAENEFVLLKKD
VDAAYANKVELQAKVESMDQEIKFFRCLFEAEITQIQSHISDMSVILSMDNNRNLDLDSI
IDEVRTQYEEIALKSKAEAEALYQTKFQELQLAAGRHGDDLKNTKNEISELTRLIQRIRS
EIENVKKQASNLETAIADAEQRGDNALKDARAKLDELEGALHQAKEELARMLREYQELMS
LKLALDMEIATYRKLLESEECRMSGEFPSPVSISIISSTSGGSVYGFRPSMVSGGYVANS
SNCISGVCSVRGGEGRSRGSANDYKDTLGKGSSLSAPSKKTSR

Sequence length

523

Interactions

View interactions

	Reactome
			Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	16316942
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Hypotrichosis	Hypotrichosis, HYPOTRICHOSIS 13	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819 View all (18 more)	22592156

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Neuroblastoma	Neuroblastoma	Loss of SNAI2 function reduces self-renewal, 3D invasion as well as metastatic spread in vivo, while strongly sensitizing neuroblastoma cells to RA-induced growth inhibition.		GWAS, CBGDA

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining
Hair Diseases	Associate	22592156, 22971920, 40282419
Hypotrichosis	Associate	22592156, 22971920
Loose Anagen Hair Syndrome	Associate	40282419
Neoplastic Syndromes Hereditary	Associate	22592156
Prediabetic State	Associate	35971929
Woolly hair congenital	Associate	22592156, 22971920

KRT71 (keratin 71)