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, KRTHB... See more...

Aliases for KRT82 Gene

Aliases for KRT82 Gene

  • Keratin 82 2 3 5
  • Keratin, Type II Cuticular Hb2 3 4
  • Type II Hair Keratin Hb2 3 4
  • Keratin, Hair, Basic, 2 2 3
  • Type-II Keratin Kb22 3 4
  • Keratin 82, Type II 2 3
  • KRTHB2 3 4
  • Hb-2 2 3
  • K82 3 4
  • Hard Keratin, Type II, 2 3
  • Hard Keratin Type II 2 2
  • Keratin-82 4
  • KRT82 5
  • HB2 3

External Ids for KRT82 Gene

Previous HGNC Symbols for KRT82 Gene

  • KRTHB2

Previous GeneCards Identifiers for KRT82 Gene

  • GC12M051075
  • GC12M052787
  • GC12M049831

Summaries for KRT82 Gene

Entrez Gene Summary for KRT82 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 keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT82 Gene

KRT82 (Keratin 82) is a Protein Coding gene. Diseases associated with KRT82 include Naegeli-Franceschetti-Jadassohn Syndrome and Corneal Ectasia. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of epidermis. An important paralog of this gene is KRT81.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT82 Gene

Genomics for KRT82 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT82 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J052406 Promoter 0.3 EPDnew 250.7 +0.0 49 0.1 KRT82 KRT84 ENSG00000257500
GH12J052894 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.6 -496.6 -496593 16.1 LARP7 SP1 ZNF654 MYC NCOR1 ZNF600 IKZF1 SSRP1 JUND ZNF580 HSALNG0091217 ZNF740 AAAS TARBP2 MAP3K12 SP1 PCBP2 CSAD LOC100652999 ENSG00000257808
GH12J052515 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 -115.0 -115031 12.1 ZIC2 DEK MAX CTBP1 MAFF SMC3 ZNF316 JUND FOSL2 MAFK KRT5 HSALNG0091189 HSALNG0091190 lnc-KRT6A-1 KRT6A KRT6C KRT71 KRT74 KRT84 KRT2
GH12J052491 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -88.2 -88222 6.4 ZIC2 CEBPB SIN3A STAT3 EBF1 JUND CTCF GLIS1 SP1 ATF7 KRT6A KRT6B JA662198 KRT6C KRT5 KRT71 KRT82 KRT84 KRT87P KRT86
GH12J052974 Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 10 -569.8 -569784 3.5 ZNF654 IKZF1 ZNF600 ZNF217 REST DEK CTCF MAX ZBTB7B MBD2 EIF4B AAAS KRT18 ZNF740 TARBP2 KRT82 KRT71 ENSG00000257808 CSAD KRT84
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT82 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT82

Top Transcription factor binding sites by QIAGEN in the KRT82 gene promoter:
  • AML1a
  • Arnt
  • IRF-1
  • NF-kappaB
  • NF-kappaB1
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA
  • STAT5B

Genomic Locations for KRT82 Gene

Latest Assembly
chr12:52,393,931-52,406,335
(GRCh38/hg38)
Size:
12,405 bases
Orientation:
Minus strand

Previous Assembly
chr12:52,787,715-52,800,119
(GRCh37/hg19 by Entrez Gene)
Size:
12,405 bases
Orientation:
Minus strand

chr12:52,787,715-52,800,139
(GRCh37/hg19 by Ensembl)
Size:
12,425 bases
Orientation:
Minus strand

Genomic View for KRT82 Gene

Genes around KRT82 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT82 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT82 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT82 Gene

Proteins for KRT82 Gene

  • Protein details for KRT82 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSB4-KRT82_HUMAN
    Recommended name:
    Keratin, type II cuticular Hb2
    Protein Accession:
    Q9NSB4

    Protein attributes for KRT82 Gene

    Size:
    513 amino acids
    Molecular mass:
    56653 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 KRT82 Gene

Post-translational modifications for KRT82 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT82 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT82 Gene

Domains & Families for KRT82 Gene

Gene Families for KRT82 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT82 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Type I keratin signature
  • Type II keratin signature

Suggested Antigen Peptide Sequences for KRT82 Gene

GenScript: Design optimal peptide antigens:
  • Type-II keratin Kb22 (KRT82_HUMAN)
  • Type II hair keratin 2 (Q701L7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NSB4

UniProtKB/Swiss-Prot:

KRT82_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT82: view

Function for KRT82 Gene

Phenotypes From GWAS Catalog for KRT82 Gene

Gene Ontology (GO) - Molecular Function for KRT82 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0030280 structural constituent of epidermis NAS 10692104
genes like me logo Genes that share ontologies with KRT82: view
genes like me logo Genes that share phenotypes with KRT82: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT82

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT82 Gene

Localization for KRT82 Gene

Subcellular locations from

COMPARTMENTS
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 KRT82 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
mitochondrion 2
nucleus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for KRT82 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IDA 10692104
genes like me logo Genes that share ontologies with KRT82: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT82 Gene

Pathways & Interactions for KRT82 Gene

PathCards logo

SuperPathways for KRT82 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT82: view

Pathways by source for KRT82 Gene

2 Reactome pathways for KRT82 Gene

Gene Ontology (GO) - Biological Process for KRT82 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT82: view

No data available for SIGNOR curated interactions for KRT82 Gene

Drugs & Compounds for KRT82 Gene

No Compound Related Data Available

Transcripts for KRT82 Gene

mRNA/cDNA for KRT82 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT82

Alternative Splicing Database (ASD) splice patterns (SP) for KRT82 Gene

No ASD Table

Relevant External Links for KRT82 Gene

GeneLoc Exon Structure for
KRT82

Expression for KRT82 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT82 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT82 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x39.9) and Skin - Sun Exposed (Lower leg) (x9.0).

Protein differential expression in normal tissues from HIPED for KRT82 Gene

This gene is overexpressed in Urine (30.2), Brain (9.9), Heart (8.9), Bone marrow mesenchymal stem cell (7.3), and Plasma (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT82 Gene



Protein tissue co-expression partners for KRT82 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT82

SOURCE GeneReport for Unigene cluster for KRT82 Gene:

Hs.134640
genes like me logo Genes that share expression patterns with KRT82: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT82 Gene

Orthologs for KRT82 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRT82 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT82 29 30
  • 98.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT82 29 30
  • 87.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Krt82 29 16 30
  • 86.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT82 29 30
  • 85.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Krt82 29
  • 85.6 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia KRT82 30
  • 78 (a)
OneToOne
Species where no ortholog for KRT82 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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 KRT82 Gene

ENSEMBL:
Gene Tree for KRT82 (if available)
TreeFam:
Gene Tree for KRT82 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT82: view image
Alliance of Genome Resources:
Additional Orthologs for KRT82

Paralogs for KRT82 Gene

(33) SIMAP similar genes for KRT82 Gene using alignment to 1 proteins:

  • KRT82_HUMAN
genes like me logo Genes that share paralogs with KRT82: view

Variants for KRT82 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT82 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs483352762 Uncertain Significance: not provided 52,401,340(-) C/G
NM_033033.3(KRT82):c.630G>C (p.Glu210Asp)
MISSENSE
rs1732263 -- p.Glu452Asp
rs1791634 -- p.Glu219Gln
rs2658658 -- p.Thr458Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT82 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRT82 Gene

Variant ID Type Subtype PubMed ID
dgv1503n100 CNV gain 25217958
dgv200n27 CNV gain 19166990
dgv2630n54 CNV gain 21841781
dgv70e55 CNV gain 17911159
nsv516938 CNV gain+loss 19592680
nsv558928 CNV loss 21841781
nsv832410 CNV gain 17160897
nsv832411 CNV loss 17160897
nsv832412 CNV loss 17160897

Variation tolerance for KRT82 Gene

Residual Variation Intolerance Score: 95.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.29; 85.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT82 Gene

Human Gene Mutation Database (HGMD)
KRT82
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT82
Leiden Open Variation Database (LOVD)
KRT82

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT82 Gene

Disorders for KRT82 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KRT82 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search KRT82 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KRT82

genes like me logo Genes that share disorders with KRT82: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRT82 Gene

Publications for KRT82 Gene

  1. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3
  2. Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain. (PMID: 10692104) Rogers MA … Schweizer J (The Journal of investigative dermatology 2000) 3 4
  3. The complement of native alpha-keratin polypeptides of hair-forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins. (PMID: 2431943) Heid HW … Franke WW (Differentiation; research in biological diversity 1986) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for KRT82 Gene

Sources for KRT82 Gene