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 KRT84 Gene

Aliases for KRT84 Gene

  • Keratin 84 2 3 5
  • Keratin, Type II Cuticular Hb4 3 4
  • Type II Hair Keratin Hb4 3 4
  • Keratin, Hair, Basic, 4 2 3
  • Type-II Keratin Kb24 3 4
  • Keratin 84, Type II 2 3
  • KRTHB4 3 4
  • K84 3 4
  • Hard Keratin, Type II, 4 3
  • Hard Keratin Type II 4 2
  • Type II Hair Keratin 4 3
  • Keratin-84 4
  • KRT84 5
  • Hb-4 2
  • HB4 3

External Ids for KRT84 Gene

Previous HGNC Symbols for KRT84 Gene

  • KRTHB4

Previous GeneCards Identifiers for KRT84 Gene

  • GC12M051058
  • GC12M052771
  • GC12M049815

Summaries for KRT84 Gene

Entrez Gene Summary for KRT84 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 is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT84 Gene

KRT84 (Keratin 84) is a Protein Coding gene. Diseases associated with KRT84 include Naegeli-Franceschetti-Jadassohn Syndrome and Monilethrix. 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 KRT85.

Additional gene information for KRT84 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT84 Gene

Genomics for KRT84 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT84 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
GH12J052385 Promoter 0.3 EPDnew 600.7 +1.3 1305 0.1 KRT84 ENSG00000258253 KRT85 ENSG00000257500
GH12J052894 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.4 -516.0 -515951 16.1 ARHGAP35 CEBPG SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 PRDM10 ZNF629 ZNF740 AAAS MAP3K12 TARBP2 SP1 PCBP2 CSAD ENSG00000257808 ATG101 ENSG00000257550
GH12J052242 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +140.7 140710 8.1 SP1 CREB1 GATAD2A PRDM10 ZNF629 SOX13 NFKBIZ ZNF692 POLR2A TARDBP KRT7-AS KRT86 KRT7 KRT81 KRT83 KRT84 KRT87P LINC00592 NONHSAG011189.2
GH12J052869 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 12.1 -486.3 -486348 7.1 CTCF PRDM10 ZNF629 LEF1 IKZF1 ZNF692 TARDBP JUND FOXA1 PRDM1 lnc-KRT8-2 KRT2 AAAS KRT84 ZNF740 PFDN5 KRT79 TARBP2 ENSG00000257808 CSAD
GH12J052923 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.7 -539.9 -539870 6.2 HNRNPL GATAD2A CTCF ZBTB33 PRDM10 REST RFX1 LEF1 IKZF1 ZNF692 KRT8 ZNF740 KRT18 CSAD AAAS PFDN5 TARBP2 NPFF ENSG00000257605 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 KRT84 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT84

Top Transcription factor binding sites by QIAGEN in the KRT84 gene promoter:
  • ATF-2
  • CRE-BP1
  • E47
  • Hand1
  • LCR-F1
  • NF-kappaB
  • NF-kappaB1
  • p53
  • RelA
  • STAT5B

Genomic Locations for KRT84 Gene

Genomic Locations for KRT84 Gene
chr12:52,377,665-52,386,977
(GRCh38/hg38)
Size:
9,313 bases
Orientation:
Minus strand
chr12:52,771,596-52,779,436
(GRCh37/hg19)
Size:
7,841 bases
Orientation:
Minus strand

Genomic View for KRT84 Gene

Genes around KRT84 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT84 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT84 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT84 Gene

Proteins for KRT84 Gene

  • Protein details for KRT84 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSB2-KRT84_HUMAN
    Recommended name:
    Keratin, type II cuticular Hb4
    Protein Accession:
    Q9NSB2
    Secondary Accessions:
    • B2RA43
    • Q6ISB0
    • Q701L6

    Protein attributes for KRT84 Gene

    Size:
    600 amino acids
    Molecular mass:
    64842 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 KRT84 Gene

Post-translational modifications for KRT84 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT84 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT84 Gene

Domains & Families for KRT84 Gene

Gene Families for KRT84 Gene

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

Protein Domains for KRT84 Gene

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

Suggested Antigen Peptide Sequences for KRT84 Gene

GenScript: Design optimal peptide antigens:
  • Type-II keratin Kb24 (KRT84_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NSB2

UniProtKB/Swiss-Prot:

KRT84_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT84: view

Function for KRT84 Gene

Phenotypes From GWAS Catalog for KRT84 Gene

Gene Ontology (GO) - Molecular Function for KRT84 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton NAS 10692104
GO:0030280 structural constituent of epidermis IEA --
genes like me logo Genes that share ontologies with KRT84: view
genes like me logo Genes that share phenotypes with KRT84: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT84

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT84 Gene

Localization for KRT84 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 KRT84 gene
Compartment Confidence
cytoskeleton 5
extracellular 4
cytosol 4
mitochondrion 2
nucleus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for KRT84 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IDA 10692104
GO:0045111 intermediate filament cytoskeleton IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with KRT84: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT84 Gene

Pathways & Interactions for KRT84 Gene

PathCards logo

SuperPathways for KRT84 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT84: view

Pathways by source for KRT84 Gene

2 Reactome pathways for KRT84 Gene

Interacting Proteins for KRT84 Gene

Gene Ontology (GO) - Biological Process for KRT84 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development NAS 10692104
GO:0007010 cytoskeleton organization IEA --
GO:0031424 keratinization TAS --
GO:0035878 nail development NAS 10692104
GO:0045616 regulation of keratinocyte differentiation IEA --
genes like me logo Genes that share ontologies with KRT84: view

No data available for SIGNOR curated interactions for KRT84 Gene

Drugs & Compounds for KRT84 Gene

No Compound Related Data Available

Transcripts for KRT84 Gene

mRNA/cDNA for KRT84 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT84

Alternative Splicing Database (ASD) splice patterns (SP) for KRT84 Gene

No ASD Table

Relevant External Links for KRT84 Gene

GeneLoc Exon Structure for
KRT84

Expression for KRT84 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT84 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT84 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x38.9) and Skin - Sun Exposed (Lower leg) (x7.1).

Protein differential expression in normal tissues from HIPED for KRT84 Gene

This gene is overexpressed in Adipocyte (41.4), Bone marrow mesenchymal stem cell (13.1), and Stomach (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT84 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT84

SOURCE GeneReport for Unigene cluster for KRT84 Gene:

Hs.272336

mRNA Expression by UniProt/SwissProt for KRT84 Gene:

Q9NSB2-KRT84_HUMAN
Tissue specificity: Expressed in the hair follicles.

Evidence on tissue expression from TISSUES for KRT84 Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with KRT84: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT84 Gene

Orthologs for KRT84 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT84 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT84 30 31
  • 98.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT84 30 31
  • 86.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT84 30 31
  • 84.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Krt84 30
  • 83.92 (n)
Mouse
(Mus musculus)
Mammalia Krt84 30 17 31
  • 82.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 56 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
-- 31
  • 48 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-222f2.1 30
  • 62.45 (n)
krt8 31
  • 49 (a)
ManyToMany
zgc:158846 31
  • 44 (a)
ManyToMany
Species where no ortholog for KRT84 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for KRT84 Gene

ENSEMBL:
Gene Tree for KRT84 (if available)
TreeFam:
Gene Tree for KRT84 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT84: view image

Paralogs for KRT84 Gene

(33) SIMAP similar genes for KRT84 Gene using alignment to 1 proteins:

  • KRT84_HUMAN
genes like me logo Genes that share paralogs with KRT84: view

Variants for KRT84 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT84 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1613931 - p.Arg184Gln
rs1732301 - p.Ser198Asn
rs2245203 - p.Ile206Val
rs7297413 - p.Gly497Arg
rs951773 - p.Cys446Arg

Additional dbSNP identifiers (rs#s) for KRT84 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRT84 Gene

Variant ID Type Subtype PubMed ID
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
esv3629516 CNV loss 21293372
nsv516938 CNV gain+loss 19592680
nsv818917 CNV gain 17921354
nsv832410 CNV gain 17160897
nsv832411 CNV loss 17160897
nsv8972 CNV gain 18304495

Variation tolerance for KRT84 Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.54; 97.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT84 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT84

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT84 Gene

Disorders for KRT84 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KRT84 Gene - From: DISEASES

Disorder Aliases PubMed IDs
naegeli-franceschetti-jadassohn syndrome
  • nfjs
monilethrix
  • mnlix
- elite association - COSMIC cancer census association via MalaCards
Search KRT84 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with KRT84: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRT84 Gene

Publications for KRT84 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 new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. (PMID: 15737194) Rogers MA … Schweizer J (The Journal of investigative dermatology 2005) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. 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
  5. 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

Products for KRT84 Gene

Sources for KRT84 Gene