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Aliases for KRT83 Gene

Aliases for KRT83 Gene

  • Keratin 83, Type II 2 3
  • KRTHB3 3 4 6
  • Type II Hair Keratin Hb3 3 4
  • Keratin, Hair, Basic, 3 2 3
  • Type-II Keratin Kb23 3 4
  • Hair Keratin K2.10 3 4
  • Keratin-83 3 4
  • HB3 3 6
  • K83 3 4
  • Keratin, Type II Cuticular Hb3 3
  • Hard Keratin, Type II, 3 3
  • Hard Keratin Type II 2
  • Keratin 83 2
  • Hb-3 3
  • HHb3 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, Type II) is a Protein Coding gene. Diseases associated with KRT83 include petroclival meningioma and parotid gland cancer. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT82.

Gene Wiki entry for KRT83 Gene

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

Genomics for KRT83 Gene

Regulatory Elements for KRT83 Gene

Genomic Location for KRT83 Gene

Start:
52,314,301 bp from pter
End:
52,321,398 bp from pter
Size:
7,098 bases
Orientation:
Minus strand

Genomic View for KRT83 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P78385-KRT83_HUMAN
    Recommended name:
    Keratin, type II cuticular Hb3
    Protein Accession:
    P78385
    Secondary Accessions:
    • A1A4S9
    • B2RC21
    • Q6NT21
    • Q9NSB3

    Protein attributes for KRT83 Gene

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

neXtProt entry for KRT83 Gene

Proteomics data for KRT83 Gene at MOPED

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 for KRT83 Gene

Gene Families for KRT83 Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

Suggested Antigen Peptide Sequences for KRT83 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78385

UniProtKB/Swiss-Prot:

KRT83_HUMAN :
  • P78385
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT83: view

Function 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

Phenotypes for KRT83 Gene

GenomeRNAi human phenotypes for KRT83:
genes like me logo Genes that share phenotypes with KRT83: view

Animal Model Products

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

Localization for KRT83 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT83 Gene COMPARTMENTS Subcellular localization image for KRT83 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
lysosome 2
mitochondrion 2
vacuole 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRT83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005882 intermediate filament --
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 for KRT83 Gene

Pathways for KRT83 Gene

SuperPathways for KRT83 Gene

No Data Available

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:0042633 hair cycle IDA 21916889
genes like me logo Genes that share ontologies with KRT83: view

No data available for Pathways by source for KRT83 Gene

Transcripts for KRT83 Gene

mRNA/cDNA for KRT83 Gene

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

Unigene Clusters for KRT83 Gene

Keratin 83:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KRT83

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KRT83

Flow Cytometry Products

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

No ASD Table

Relevant External Links for KRT83 Gene

GeneLoc Exon Structure for
KRT83
ECgene alternative splicing isoforms for
KRT83

Expression for KRT83 Gene

mRNA expression in normal human tissues for KRT83 Gene

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

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (44.3) and Skin - Sun Exposed (Lower leg) (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KRT83 Gene

SOURCE GeneReport for Unigene cluster for KRT83 Gene Hs.720768

mRNA Expression by UniProt/SwissProt for KRT83 Gene

P78385-KRT83_HUMAN
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.
genes like me logo Genes that share expressions with KRT83: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KRT83 Gene

Orthologs for KRT83 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRT83 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT83 35
  • 99.32 (n)
  • 99.39 (a)
KRT83 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 76 (a)
ManyToMany
KRT81 36
  • 88 (a)
ManyToMany
KRT83 35
  • 89.7 (n)
  • 90.65 (a)
KRT83 36
  • 90 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 91 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia 5430421N21Rik 35
  • 86.75 (n)
  • 88.91 (a)
Krt81 36
  • 86 (a)
ManyToMany
Krt83 16
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 83 (a)
ManyToMany
-- 36
  • 87 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
ManyToMany
-- 36
  • 82 (a)
ManyToMany
-- 36
  • 80 (a)
ManyToMany
-- 36
  • 81 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Kb23 35
  • 87.67 (n)
  • 88.14 (a)
Species with no ortholog for KRT83:
  • 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

ENSEMBL:
Gene Tree for KRT83 (if available)
TreeFam:
Gene Tree for KRT83 (if available)

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 Sequence Context AA Info Type MAF
rs998820 -- 52,318,962(+) TTTCC(C/T)TGATC intron-variant
rs998821 -- 52,319,029(+) CTCAA(A/G)CAGGG intron-variant
rs1540093 -- 52,322,092(-) ATGAC(A/G)CCTGG upstream-variant-2KB
rs1540094 -- 52,322,031(-) TTCCA(A/T)GTCCC upstream-variant-2KB
rs1540095 -- 52,321,579(-) TTGAA(A/G)ATGAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv511e1 CNV Complex 17122850
nsv899087 CNV Loss 21882294
nsv7230 OTHER Inversion 18451855
nsv899088 CNV Loss 21882294
nsv899089 CNV Loss 21882294
essv22726 CNV CNV 17122850
dgv70e55 CNV Gain 17911159
nsv516938 CNV Gain+Loss 19592680
esv29967 CNV Gain 17803354
esv27319 CNV Gain+Loss 19812545
dgv29e180 CNV Gain 20482838
nsv818917 CNV Gain 17921354
dgv200n27 CNV Gain 19166990

Relevant External Links for KRT83 Gene

HapMap Linkage Disequilibrium report
KRT83
Human Gene Mutation Database (HGMD)
KRT83

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

Disorders for KRT83 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for KRT83 Gene including...

Search for KRT83 Gene in MalaCards »

(1) OMIM Diseases for KRT83 Gene (602765)

UniProtKB/Swiss-Prot

KRT83_HUMAN
  • 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.

(4) University of Copenhagen DISEASES for KRT83 Gene

(1) Novoseek inferred disease relationships for KRT83 Gene

Disease -log(P) Hits PubMed IDs
monilethrix 95.2 3

Relevant External Links for KRT83

Genetic Association Database (GAD)
KRT83
genes like me logo Genes that share disorders with KRT83: view

Publications for KRT83 Gene

  1. Sequences and differential expression of three novel human type-II hair keratins. (PMID: 9084137) Rogers M.A. … Schweizer J. (Differentiation 1997) 2 3 4 23
  2. 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. (J. Biol. Chem. 2001) 3 23
  3. Characterization of a 300 kbp region of human DNA containing the type II hair keratin. (PMID: 10692104) Rogers M.A. … Schweizer J. (J. Invest. Dermatol. 2000) 3 4
  4. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (PMID: 15744029) van Steensel M.A. … van Geel M. (J. Med. Genet. 2005) 3 4
  5. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J. … Wright M.W. (J. Cell Biol. 2006) 2 3

Products for KRT83 Gene

Sources for KRT83 Gene

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