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	3853
Gene name	Keratin 6A
Gene symbol	KRT6A
Synonyms (NCBI Gene)	CK-6CCK-6ECK6ACK6CCK6DK6AK6CK6DKRT6CKRT6DPC3
Chromosome	12
Chromosome location	12q13.13
Summary	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933087	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57052654	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57448541	G>A	Pathogenic	Missense variant, coding sequence variant
rs57629991	A>C,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58556099	T>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs59685571	G>T	Pathogenic	Missense variant, coding sequence variant
rs60554162	C>T	Pathogenic	Missense variant, coding sequence variant
rs61145796	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62635294	T>A,C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs113369052	T>A,G	Pathogenic	Splice acceptor variant
rs267607462	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs267607463	A>G	Pathogenic	Missense variant, coding sequence variant
rs267607464	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607468	C>A,G,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs606231214	TTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1064793417	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1318088507	G>A,C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments
MIRT1101377	hsa-miR-3128	CLIP-seq
MIRT1101378	hsa-miR-331-3p	CLIP-seq
MIRT1101379	hsa-miR-4438	CLIP-seq
MIRT1101380	hsa-miR-4756-3p	CLIP-seq
MIRT1101381	hsa-miR-4766-5p	CLIP-seq
MIRT1101382	hsa-miR-5095	CLIP-seq
MIRT1101380	hsa-miR-4756-3p	CLIP-seq
MIRT2452758	hsa-miR-1254	CLIP-seq
MIRT2452759	hsa-miR-1293	CLIP-seq
MIRT2452760	hsa-miR-3116	CLIP-seq
MIRT2452761	hsa-miR-4447	CLIP-seq
MIRT2452762	hsa-miR-4472	CLIP-seq
MIRT2452763	hsa-miR-4483	CLIP-seq
MIRT2452764	hsa-miR-661	CLIP-seq
MIRT2559523	hsa-miR-3150b-3p	CLIP-seq
MIRT2559524	hsa-miR-4689	CLIP-seq
MIRT2559525	hsa-miR-4721	CLIP-seq
MIRT2559526	hsa-miR-4784	CLIP-seq
MIRT2559527	hsa-miR-544b	CLIP-seq
MIRT2559528	hsa-miR-548an	CLIP-seq
MIRT2559523	hsa-miR-3150b-3p	CLIP-seq
MIRT2559524	hsa-miR-4689	CLIP-seq
MIRT2559525	hsa-miR-4721	CLIP-seq
MIRT2559526	hsa-miR-4784	CLIP-seq
MIRT2559527	hsa-miR-544b	CLIP-seq
MIRT2559528	hsa-miR-548an	CLIP-seq
MIRT2683694	hsa-miR-760	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002009	Process	Morphogenesis of an epithelium	ISS
GO:0005200	Function	Structural constituent of cytoskeleton	NAS	7543104
GO:0005515	Function	Protein binding	IPI	15731013, 16189514, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	7543104
GO:0016020	Component	Membrane	HDA	19946888
GO:0030154	Process	Cell differentiation	NAS	7543104
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0031424	Process	Keratinization	IBA
GO:0031640	Process	Killing of cells of another organism	IDA	23006328
GO:0031640	Process	Killing of cells of another organism	IMP	23006328
GO:0042060	Process	Wound healing	ISS
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	23006328
GO:0050830	Process	Defense response to Gram-positive bacterium	IMP	23006328
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	23006328
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IMP	23006328
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:2000536	Process	Negative regulation of entry of bacterium into host cell	IDA	23006328

MIM	HGNC	e!Ensembl
148041	6443	ENSG00000205420

P02538

Protein name

Keratin, type II cytoskeletal 6A (Cytokeratin-6A) (CK-6A) (Cytokeratin-6D) (CK-6D) (Keratin-6A) (K6A) (Type-II keratin Kb6) (allergen Hom s 5)

Protein function

Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of

PDB

5KI0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16208	Keratin_2_head	17 → 159	Keratin type II head	Family
PF00038	Filament	162 → 475	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Expressed in the corneal epithelium (at protein level). {ECO:0000269|PubMed:26758872}.

Sequence

MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSVSVSRSRGSGGLGGACGGAGFGSRS
LYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAG
GFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPTIQRVRAEEREQIKTLNNKFASFIDK
VRFLEQQNKVLETKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELR
GMQDLVEDFKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRA
LYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKY
EELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCANLQAAIADAEQRGEMAL
KDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEG
VGQVNISVVQSTVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRAIGGGLS
SVGGGSSTIKYTTTSSSSRKSYKH

Sequence length

564

Interactions

View interactions

	Reactome
			Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pachyonychia congenita 3	Likely pathogenic; Pathogenic	rs113369052, rs2498491241, rs606231214, rs28933087, rs60554162, rs57052654, rs267607468, rs267607464, rs57126929, rs62635294, rs58556099, rs59685571, rs61145796	RCV000144079 RCV002470574 RCV000015740 RCV000015741 RCV000015742 RCV000015743 RCV005007986 RCV000144075 RCV005624313 RCV004703204 RCV000128818 RCV000128820 RCV000128821 RCV000144078 RCV001027734

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
KRT6A-related disorder	Likely benign; Benign	rs372218481, rs711317, rs72482244, rs12578949, rs17845411, rs551731110, rs374415163, rs1398015289, rs201950477, rs374275838, rs186117617, rs555046513, rs563614469, rs368052661, rs765981606 View all (6 more)	RCV003938617 RCV003980803 RCV003976072 RCV003976121 RCV003984086 RCV003911191 RCV003919370 RCV003929563 RCV003916908 RCV003959676 RCV003941630 RCV003926777 RCV003932241 RCV003934116 RCV003927377 RCV003954609 RCV003969048 RCV003970116 RCV003895769 RCV003983291 RCV003968083
Papillary renal cell carcinoma type 1	Benign	rs780833562	RCV005906160

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32329414, 36793937, 37081097, 37199651, 37643778, 37974107, 38240936, 40486872
Adrenocortical Adenoma	Associate	31419939
Asthma	Associate	31430856, 32460303
Bronchopulmonary Dysplasia	Associate	37147394
Carcinogenesis	Associate	35311447
Carcinoma Basal Cell	Associate	31047981
Carcinoma Hepatocellular	Associate	31272500
Carcinoma Non Small Cell Lung	Associate	30914778
Carcinoma Pancreatic Ductal	Associate	30092011, 33221741, 38613239
Carcinoma Squamous Cell	Associate	19176476, 34504628, 37442189
Colorectal Neoplasms	Associate	37647260
Hypoxia	Associate	37081097
Infarction Anterior Cerebral Artery	Associate	31419939
Keratoconus	Associate	23727491
Keratoderma Palmoplantar	Associate	34724947
Lung Neoplasms	Stimulate	28619761
Lung Neoplasms	Associate	32329414
Lymphatic Metastasis	Associate	36793937
Melanoma	Associate	32934956
Melanoma Cutaneous Malignant	Associate	32934956
Nail Diseases	Associate	19609311
Nasopharyngeal Carcinoma	Stimulate	30896882
Neoplasm Metastasis	Stimulate	30896882
Neoplasm Metastasis	Associate	32329414
Neoplasms	Associate	32329414, 33221741, 37260110, 37817112, 38613239
Neoplasms Glandular and Epithelial	Associate	37044260
Nevus	Associate	32934956
Nevus Pigmented	Associate	32934956
Pachyonychia Congenita	Associate	11886499, 17511954, 18071332, 19609311, 19935778, 21160496, 21191405, 21248764, 21326300, 21390048, 24611874, 25656049, 26087092, 28648685, 34724947, 36116508, 36658016 View all (2 more)
Pancreatic Neoplasms	Associate	30092011, 37260110, 38613239
Prostatic Hyperplasia	Associate	15819412
Prostatitis	Associate	15819412
Rhinitis	Associate	32460303
Urinary Bladder Neoplasms	Stimulate	35311447

KRT6A (keratin 6A)