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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3887
Gene name	Keratin 81
Gene symbol	KRT81
Synonyms (NCBI Gene)	HB1Hb-1K81KRTHB1MLN137MNLIX2ghHkb1hHAKB2-1
Chromosome	12
Chromosome location	12q13.13
Summary	The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome

138

Show/Hide all (138)

miRTarBase ID	miRNA	Experiments
MIRT1101780	hsa-miR-1207-5p	CLIP-seq
MIRT1101781	hsa-miR-1254	CLIP-seq
MIRT1101782	hsa-miR-2861	CLIP-seq
MIRT1101783	hsa-miR-3116	CLIP-seq
MIRT1101784	hsa-miR-3199	CLIP-seq
MIRT1101785	hsa-miR-3714	CLIP-seq
MIRT1101786	hsa-miR-4436b-3p	CLIP-seq
MIRT1101787	hsa-miR-4708-3p	CLIP-seq
MIRT1101788	hsa-miR-4763-3p	CLIP-seq
MIRT1101789	hsa-miR-661	CLIP-seq
MIRT1101790	hsa-miR-940	CLIP-seq
MIRT1920071	hsa-miR-1193	CLIP-seq
MIRT1101780	hsa-miR-1207-5p	CLIP-seq
MIRT1920072	hsa-miR-1243	CLIP-seq
MIRT1101781	hsa-miR-1254	CLIP-seq
MIRT1920073	hsa-miR-1269	CLIP-seq
MIRT1920074	hsa-miR-1269b	CLIP-seq
MIRT1920075	hsa-miR-1288	CLIP-seq
MIRT1101783	hsa-miR-3116	CLIP-seq
MIRT1920076	hsa-miR-3690	CLIP-seq
MIRT1101785	hsa-miR-3714	CLIP-seq
MIRT1920077	hsa-miR-378	CLIP-seq
MIRT1920078	hsa-miR-378b	CLIP-seq
MIRT1920079	hsa-miR-378c	CLIP-seq
MIRT1920080	hsa-miR-378d	CLIP-seq
MIRT1920081	hsa-miR-378e	CLIP-seq
MIRT1920082	hsa-miR-378f	CLIP-seq
MIRT1920083	hsa-miR-378h	CLIP-seq
MIRT1920084	hsa-miR-378i	CLIP-seq
MIRT1920085	hsa-miR-422a	CLIP-seq
MIRT1101786	hsa-miR-4436b-3p	CLIP-seq
MIRT1920086	hsa-miR-4515	CLIP-seq
MIRT1920087	hsa-miR-4640-5p	CLIP-seq
MIRT1920088	hsa-miR-4645-5p	CLIP-seq
MIRT1920089	hsa-miR-4673	CLIP-seq
MIRT1101787	hsa-miR-4708-3p	CLIP-seq
MIRT1920090	hsa-miR-4726-5p	CLIP-seq
MIRT1920091	hsa-miR-4740-5p	CLIP-seq
MIRT1101788	hsa-miR-4763-3p	CLIP-seq
MIRT1920092	hsa-miR-566	CLIP-seq
MIRT1101790	hsa-miR-940	CLIP-seq
MIRT1920071	hsa-miR-1193	CLIP-seq
MIRT1920072	hsa-miR-1243	CLIP-seq
MIRT1101781	hsa-miR-1254	CLIP-seq
MIRT1920073	hsa-miR-1269	CLIP-seq
MIRT1920074	hsa-miR-1269b	CLIP-seq
MIRT1920075	hsa-miR-1288	CLIP-seq
MIRT1101783	hsa-miR-3116	CLIP-seq
MIRT1920076	hsa-miR-3690	CLIP-seq
MIRT1101785	hsa-miR-3714	CLIP-seq
MIRT1920077	hsa-miR-378	CLIP-seq
MIRT1920078	hsa-miR-378b	CLIP-seq
MIRT1920079	hsa-miR-378c	CLIP-seq
MIRT1920080	hsa-miR-378d	CLIP-seq
MIRT1920081	hsa-miR-378e	CLIP-seq
MIRT1920082	hsa-miR-378f	CLIP-seq
MIRT1920083	hsa-miR-378h	CLIP-seq
MIRT1920084	hsa-miR-378i	CLIP-seq
MIRT1920085	hsa-miR-422a	CLIP-seq
MIRT1920086	hsa-miR-4515	CLIP-seq
MIRT1920087	hsa-miR-4640-5p	CLIP-seq
MIRT1920088	hsa-miR-4645-5p	CLIP-seq
MIRT1920089	hsa-miR-4673	CLIP-seq
MIRT1101787	hsa-miR-4708-3p	CLIP-seq
MIRT1920090	hsa-miR-4726-5p	CLIP-seq
MIRT1920091	hsa-miR-4740-5p	CLIP-seq
MIRT1920092	hsa-miR-566	CLIP-seq
MIRT1101790	hsa-miR-940	CLIP-seq
MIRT1920071	hsa-miR-1193	CLIP-seq
MIRT1101780	hsa-miR-1207-5p	CLIP-seq
MIRT1920072	hsa-miR-1243	CLIP-seq
MIRT1101781	hsa-miR-1254	CLIP-seq
MIRT1920073	hsa-miR-1269	CLIP-seq
MIRT1920074	hsa-miR-1269b	CLIP-seq
MIRT1920075	hsa-miR-1288	CLIP-seq
MIRT1101783	hsa-miR-3116	CLIP-seq
MIRT1920076	hsa-miR-3690	CLIP-seq
MIRT1101785	hsa-miR-3714	CLIP-seq
MIRT1920077	hsa-miR-378	CLIP-seq
MIRT1920078	hsa-miR-378b	CLIP-seq
MIRT1920079	hsa-miR-378c	CLIP-seq
MIRT1920080	hsa-miR-378d	CLIP-seq
MIRT1920081	hsa-miR-378e	CLIP-seq
MIRT1920082	hsa-miR-378f	CLIP-seq
MIRT1920083	hsa-miR-378h	CLIP-seq
MIRT1920084	hsa-miR-378i	CLIP-seq
MIRT1920085	hsa-miR-422a	CLIP-seq
MIRT1101786	hsa-miR-4436b-3p	CLIP-seq
MIRT1920086	hsa-miR-4515	CLIP-seq
MIRT1920087	hsa-miR-4640-5p	CLIP-seq
MIRT1920088	hsa-miR-4645-5p	CLIP-seq
MIRT1920089	hsa-miR-4673	CLIP-seq
MIRT1101787	hsa-miR-4708-3p	CLIP-seq
MIRT1920090	hsa-miR-4726-5p	CLIP-seq
MIRT1920091	hsa-miR-4740-5p	CLIP-seq
MIRT1101788	hsa-miR-4763-3p	CLIP-seq
MIRT1920092	hsa-miR-566	CLIP-seq
MIRT1101790	hsa-miR-940	CLIP-seq
MIRT2027645	hsa-miR-106a	CLIP-seq
MIRT2027646	hsa-miR-106b	CLIP-seq
MIRT2027647	hsa-miR-1200	CLIP-seq
MIRT2027648	hsa-miR-1202	CLIP-seq
MIRT2027649	hsa-miR-1286	CLIP-seq
MIRT2027650	hsa-miR-1291	CLIP-seq
MIRT2027651	hsa-miR-17	CLIP-seq
MIRT2027652	hsa-miR-20a	CLIP-seq
MIRT2027653	hsa-miR-20b	CLIP-seq
MIRT2027654	hsa-miR-3074-5p	CLIP-seq
MIRT2027655	hsa-miR-3115	CLIP-seq
MIRT2027656	hsa-miR-3127-3p	CLIP-seq
MIRT2027657	hsa-miR-3194-5p	CLIP-seq
MIRT2027658	hsa-miR-328	CLIP-seq
MIRT2027659	hsa-miR-337-3p	CLIP-seq
MIRT2027660	hsa-miR-3663-3p	CLIP-seq
MIRT2027661	hsa-miR-3667-3p	CLIP-seq
MIRT2027662	hsa-miR-370	CLIP-seq
MIRT2027663	hsa-miR-3972	CLIP-seq
MIRT2027664	hsa-miR-4268	CLIP-seq
MIRT2027665	hsa-miR-4324	CLIP-seq
MIRT2027666	hsa-miR-4434	CLIP-seq
MIRT2027667	hsa-miR-4448	CLIP-seq
MIRT2027668	hsa-miR-4516	CLIP-seq
MIRT2027669	hsa-miR-4649-3p	CLIP-seq
MIRT2027670	hsa-miR-4663	CLIP-seq
MIRT2027671	hsa-miR-4722-5p	CLIP-seq
MIRT2027672	hsa-miR-4768-3p	CLIP-seq
MIRT2027673	hsa-miR-519a	CLIP-seq
MIRT2027674	hsa-miR-519b-3p	CLIP-seq
MIRT2027675	hsa-miR-519c-3p	CLIP-seq
MIRT2027676	hsa-miR-519d	CLIP-seq
MIRT2027677	hsa-miR-544b	CLIP-seq
MIRT2027678	hsa-miR-562	CLIP-seq
MIRT2027679	hsa-miR-93	CLIP-seq
MIRT2259005	hsa-miR-1294	CLIP-seq
MIRT2259006	hsa-miR-377	CLIP-seq
MIRT2259007	hsa-miR-3919	CLIP-seq
MIRT2259008	hsa-miR-4316	CLIP-seq
MIRT2259009	hsa-miR-539	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 23088713, 25416956, 29892012, 32296183, 32814053
GO:0005615	Component	Extracellular space	HDA	23580065
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:0045109	Process	Intermediate filament organization	IBA

MIM	HGNC	e!Ensembl
602153	6458	ENSG00000205426

Q14533

Protein name

Keratin, type II cuticular Hb1 (Hair keratin K2.9) (Keratin, hair, basic, 1) (Keratin-81) (K81) (Metastatic lymph node 137 gene protein) (MLN 137) (Type II hair keratin Hb1) (Type-II keratin Kb21) (ghHKb1) (ghHb1)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16208	Keratin_2_head	1 → 102	Keratin type II head	Family
PF00038	Filament	105 → 416	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in

Sequence

MTCGSGFGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCG
RSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAF
IDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIETLRREAECVEADSGRLASEL
NHVQEVLEGYKKKYEEEVSLRATAENEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLR
RLYEEEILILQSHISDTSVVVKLDNSRDLNMDCIIAEIKAQYDDIVTRSRAEAESWYRSK
CEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAA
LSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEG
IGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCNGNVAVSTGLCAPCGQLNTTCGG
GSCGVGSCGISSLGVGSCGSSCRKC

Sequence length

505

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Monilethrix-2	Pathogenic; Likely pathogenic	rs57419521, rs56821304	RCV005252103 RCV005252104	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT81-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monilethrix	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monilethrix-1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acoustic Neuroma	Acoustic Neuroma	BEFREE	30570604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21799879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29101303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	25918132		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	28405679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28634007, 37949677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	28634007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35121522, 40149962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21799879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	28634007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23705004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	24530479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	24530479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28405679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24530479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monilethrix	Monilethrix	BEFREE	15050877, 25557232		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monilethrix	Monilethrix	UNIPROT_DG	25557232, 9402962, 9665406		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monilethrix	Monilethrix	ORPHANET_DG	9402962, 9665406		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monilethrix	Monilethrix	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monilethrix	Monilethrix	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monilethrix	Monilethrix	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	22539802		★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26855150, 31577805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21799879, 25716425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	28634007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40149962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Perifollicular hyperkeratosis	Perifollicular hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	10405355, 10729121, 9658120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	36441790	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21799879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33530209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	21799879		★★★★★ ★☆☆☆☆ Found in Text Mining only

KRT81 (keratin 81)