Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3887
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 81
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT81
Synonyms (NCBI Gene) Gene synonyms aliases
HB1, Hb-1, K81, KRTHB1, MLN137, MNLIX2, ghHkb1, hHAKB2-1
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.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 TAS
GO:0031424 Process Keratinization TAS
GO:0045095 Component Keratin filament IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602153 6458 ENSG00000205426
Protein
UniProt ID 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
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Keratinization
Formation of the cornified envelope
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Hypotrichosis Hypotrichosis rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819
View all (18 more)
Keratosis pilaris Keratosis pilaris rs483353013
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 25918132 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35403268, 38240936
Adenomatous Polyposis Coli Associate 19845967
Breast Neoplasms Associate 28634007, 37949677
Carcinoma Intraductal Noninfiltrating Associate 28634007
Carcinoma Non Small Cell Lung Associate 21799879, 25716425
Carcinoma Pancreatic Ductal Associate 35121522, 40149962
Carcinoma Squamous Cell Associate 21799879
Lung Diseases Associate 23705004
Monilethrix Associate 35146972
Neoplasms Associate 25716425, 33465147, 36441790, 37817112