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Aliases for KRT83 Gene

Aliases for KRT83 Gene

  • Keratin 83 2 3 5
  • Type II Hair Keratin Hb3 3 4
  • Keratin, Hair, Basic, 3 2 3
  • Type-II Keratin Kb23 3 4
  • Keratin 83, Type II 2 3
  • Hair Keratin K2.10 3 4
  • KRTHB3 3 4
  • K83 3 4
  • Keratin, Type II Cuticular Hb3 3
  • Hard Keratin, Type II, 3 3
  • Hard Keratin Type II 2
  • Keratin-83 4
  • EKVP5 3
  • MNLIX 3
  • Hb-3 3
  • HHb3 3
  • HB3 3

External Ids for KRT83 Gene

Previous HGNC Symbols for KRT83 Gene

  • KRTHB3

Previous GeneCards Identifiers for KRT83 Gene

  • GC12M050995
  • GC12M052708
  • GC12M049751

Summaries for KRT83 Gene

Entrez Gene Summary for KRT83 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 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT83 Gene

KRT83 (Keratin 83) is a Protein Coding gene. Diseases associated with KRT83 include Erythrokeratodermia Variabilis Et Progressiva 5 and Monilethrix. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT81.

Gene Wiki entry for KRT83 Gene

Additional gene information for KRT83 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT83 Gene

Genomics for KRT83 Gene

GeneHancer (GH) Regulatory Elements for KRT83 Gene

Promoters and enhancers for KRT83 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J052321 Promoter 0.5 EPDnew 650.7 -0.3 -269 0.1 KRT83 KRT87P KRT86 KRT7 KRT84 KRT76 KRT4 PIR61311 GC12P052156
GH12J052228 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.8 +86.9 86876 11.5 PKNOX1 NFIB SREBF2 ZSCAN4 SIN3A ZBTB7B RAD21 ZBTB40 RFX5 SMARCC2 KRT7 METTL7AP1 KRT80 KRT83 KRT81 LINC00592 KRT7-AS GC12P052156
GH12J052894 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 9.2 -581.5 -581530 16.1 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GC12M052900 AAAS ZNF740 PCBP2 SP1 MAP3K12 LOC100652999 ATF7 EIF4B ENSG00000257808
GH12J052242 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 10.8 +75.1 75131 8.1 HDGF PKNOX1 CLOCK FOXA2 NEUROD1 SIN3A FEZF1 ZBTB7B ZNF207 ZNF143 KRT7-AS KRT86 KRT7 HNRNPA3P10 ZNF740 CSAD ENSG00000257808 KRT81 KRT83 KRT84
GH12J052277 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +39.5 39505 9.2 PKNOX1 CLOCK FOXA2 NEUROD1 SIN3A FEZF1 ZNF143 FOS DEK REST KRT86 ZNF740 KRT80 KRT7 HNRNPA3P10 CSAD KRT87P KRT83 ENSG00000257808 NR4A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT83 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRT83 gene promoter:
  • AREB6
  • CHOP-10
  • C/EBPalpha
  • Arnt
  • AhR
  • FOXO4
  • YY1
  • NF-1
  • NF-1/L
  • Pax-2a

Genomic Locations for KRT83 Gene

Genomic Locations for KRT83 Gene
7,098 bases
Minus strand
7,098 bases
Minus strand

Genomic View for KRT83 Gene

Genes around KRT83 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT83 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT83 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT83 Gene

Proteins for KRT83 Gene

  • Protein details for KRT83 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Keratin, type II cuticular Hb3
    Protein Accession:
    Secondary Accessions:
    • A1A4S9
    • B2RC21
    • Q6NT21
    • Q9NSB3

    Protein attributes for KRT83 Gene

    493 amino acids
    Molecular mass:
    54195 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    • There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

neXtProt entry for KRT83 Gene

Post-translational modifications for KRT83 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT83 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT83 Gene

Domains & Families for KRT83 Gene

Gene Families for KRT83 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KRT83 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the intermediate filament family.
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT83: view

Function for KRT83 Gene

Phenotypes From GWAS Catalog for KRT83 Gene

Gene Ontology (GO) - Molecular Function for KRT83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT83: view
genes like me logo Genes that share phenotypes with KRT83: view

Human Phenotype Ontology for KRT83 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT83 Gene

Localization for KRT83 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT83 gene
Compartment Confidence
extracellular 5
cytosol 5
cytoskeleton 2
mitochondrion 2
peroxisome 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for KRT83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRT83: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT83 Gene

Pathways & Interactions for KRT83 Gene

SuperPathways for KRT83 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT83: view

Pathways by source for KRT83 Gene

2 Reactome pathways for KRT83 Gene

Gene Ontology (GO) - Biological Process for KRT83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007568 aging IDA 21916889
GO:0008544 epidermis development TAS 9084137
GO:0031424 keratinization TAS --
GO:0042633 hair cycle IDA 21916889
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT83: view

No data available for SIGNOR curated interactions for KRT83 Gene

Drugs & Compounds for KRT83 Gene

No Compound Related Data Available

Transcripts for KRT83 Gene

mRNA/cDNA for KRT83 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT83 Gene

Keratin 83:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT83 Gene

No ASD Table

Relevant External Links for KRT83 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KRT83 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT83 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT83 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x44.3) and Skin - Sun Exposed (Lower leg) (x6.0).

Protein differential expression in normal tissues from HIPED for KRT83 Gene

This gene is overexpressed in Hair follicle (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT83 Gene

Protein tissue co-expression partners for KRT83 Gene

NURSA nuclear receptor signaling pathways regulating expression of KRT83 Gene:


SOURCE GeneReport for Unigene cluster for KRT83 Gene:


mRNA Expression by UniProt/SwissProt for KRT83 Gene:

Tissue specificity: Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex.

Evidence on tissue expression from TISSUES for KRT83 Gene

  • Skin(4.4)
  • Nervous system(4.2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT83 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • skeleton
Head and neck:
  • brain
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • hair
  • skin
genes like me logo Genes that share expression patterns with KRT83: view

Orthologs for KRT83 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRT83 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KRT83 34 33
  • 99.32 (n)
(Canis familiaris)
Mammalia -- 34
  • 91 (a)
(Bos Taurus)
Mammalia KRT83 34 33
  • 89.7 (n)
KRT81 34
  • 88 (a)
-- 34
  • 76 (a)
(Rattus norvegicus)
Mammalia Kb23 33
  • 87.67 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 87 (a)
-- 34
  • 83 (a)
(Mus musculus)
Mammalia 5430421N21Rik 33
  • 86.75 (n)
Krt81 34
  • 86 (a)
Krt83 16
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
-- 34
  • 82 (a)
-- 34
  • 81 (a)
-- 34
  • 80 (a)
Species where no ortholog for KRT83 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT83 Gene

Gene Tree for KRT83 (if available)
Gene Tree for KRT83 (if available)
Evolutionary constrained regions (ECRs) for KRT83: view image

Paralogs for KRT83 Gene

Paralogs for KRT83 Gene

genes like me logo Genes that share paralogs with KRT83: view

Variants for KRT83 Gene

Sequence variations from dbSNP and Humsavar for KRT83 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs111267865 likely-benign, Beaded hair 52,321,024(-) C/T coding_sequence_variant, synonymous_variant
rs11285858 benign, Beaded hair 52,314,307(-) CCCC/CCC 3_prime_UTR_variant
rs11834565 likely-benign, Beaded hair 52,319,269(-) A/G coding_sequence_variant, synonymous_variant
rs11836080 likely-benign, Beaded hair 52,314,775(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs140012906 likely-benign, Beaded hair 52,317,931(-) G/A/C/T coding_sequence_variant, missense_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for KRT83 Gene

Variant ID Type Subtype PubMed ID
dgv1502n100 CNV gain 25217958
dgv1503n100 CNV gain 25217958
dgv200n27 CNV gain 19166990
dgv2630n54 CNV gain 21841781
dgv29e180 CNV gain 20482838
dgv487e212 CNV gain 25503493
dgv70e55 CNV gain 17911159
dgv9e209 CNV duplication 24192839
esv27319 CNV gain+loss 19812545
esv2759899 CNV gain 17122850
esv2760832 CNV gain 21179565
esv29967 CNV gain 17803354
nsv516938 CNV gain+loss 19592680
nsv558904 CNV gain 21841781
nsv558922 CNV gain 21841781
nsv558923 CNV loss 21841781
nsv7230 OTHER inversion 18451855
nsv818917 CNV gain 17921354
nsv976617 CNV duplication 23825009

Variation tolerance for KRT83 Gene

Residual Variation Intolerance Score: 96.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.67; 93.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT83 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT83 Gene

Disorders for KRT83 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KRT83 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
erythrokeratodermia variabilis et progressiva 5
  • ekvp5
  • mnlix
petroclival meningioma
parotid gland cancer
  • cancer of parotid gland
skull base neoplasm
  • tumors of skull base
- elite association - COSMIC cancer census association via MalaCards
Search KRT83 in MalaCards View complete list of genes associated with diseases


  • Monilethrix (MNLIX) [MIM:158000]: A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. {ECO:0000269 PubMed:15744029, ECO:0000269 PubMed:25557232}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KRT83

genes like me logo Genes that share disorders with KRT83: view

No data available for Genatlas for KRT83 Gene

Publications for KRT83 Gene

  1. Sequences and differential expression of three novel human type-II hair keratins. (PMID: 9084137) Rogers MA … Schweizer J (Differentiation; research in biological diversity 1997) 2 3 4 22 58
  2. Novel KRT83 and KRT86 mutations associated with monilethrix. (PMID: 25557232) van Steensel M … van Geel M (Experimental dermatology 2015) 3 4 58
  3. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3 58
  4. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (PMID: 15744029) van Steensel MA … van Geel M (Journal of medical genetics 2005) 3 4 58
  5. The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. (PMID: 11445569) Langbein L … Schweizer J (The Journal of biological chemistry 2001) 3 22 58

Products for KRT83 Gene

Sources for KRT83 Gene

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