This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the typ... See more...

Aliases for KRT78 Gene

Aliases for KRT78 Gene

  • Keratin 78 2 3 5
  • K5B 2 3 4
  • Keratin, Type II Cytoskeletal 78 3 4
  • Type-II Keratin Kb40 3 4
  • Keratin 78, Type II 2 3
  • Cytokeratin-78 3 4
  • Keratin-5b 3 4
  • CK-78 3 4
  • K78 3 4
  • Keratin-78 4
  • KRT78 5
  • Kb40 3
  • KB40 4

External Ids for KRT78 Gene

Previous GeneCards Identifiers for KRT78 Gene

  • GC12M051518
  • GC12M053232
  • GC12M050276

Summaries for KRT78 Gene

Entrez Gene Summary for KRT78 Gene

  • This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT78 Gene

KRT78 (Keratin 78) is a Protein Coding gene. Diseases associated with KRT78 include Fiedler's Myocarditis. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT76.

Gene Wiki entry for KRT78 Gene

Additional gene information for KRT78 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT78 Gene

Genomics for KRT78 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT78 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
GH12J052878 Promoter/Enhancer 1.6 EPDnew ENCODE CraniofacialAtlas dbSUPER 600.3 -30.3 -30301 1.8 HNRNPL CTCF PRDM10 IKZF1 ZNF692 TARDBP JUND MTA2 ZIC2 ZSCAN4 KRT78 KRT8 PFDN5 RPL7P41 lnc-KRT18-2 lnc-KRT8-2 KRT18
GH12J052848 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.7 +0.1 78 0.1 KRT78 lnc-KRT79-2 KRT79
GH12J052849 Enhancer 0.3 Ensembl dbSUPER 600.7 -0.4 -409 0.6 KRT78 lnc-KRT79-2 lnc-KRT8-2 KRT18
GH12J052850 Enhancer 0.3 Ensembl dbSUPER 600.7 -1.6 -1609 0.2 KRT78 lnc-KRT8-2 KRT18
GH12J052894 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -53.8 -53836 16.1 ARHGAP35 CEBPG SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 PRDM10 ZNF629 ZNF740 AAAS MAP3K12 TARBP2 SP1 PCBP2 CSAD ENSG00000257808 ATG101 ENSG00000257550
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT78 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT78

Top Transcription factor binding sites by QIAGEN in the KRT78 gene promoter:
  • AML1a
  • C/EBPalpha
  • CHOP-10
  • E47
  • GR
  • GR-alpha
  • HEN1
  • RP58
  • Tal-1beta
  • Zic3

Genomic Locations for KRT78 Gene

Genomic Locations for KRT78 Gene
chr12:52,837,804-52,849,092
(GRCh38/hg38)
Size:
11,289 bases
Orientation:
Minus strand
chr12:53,231,588-53,242,876
(GRCh37/hg19)
Size:
11,289 bases
Orientation:
Minus strand

Genomic View for KRT78 Gene

Genes around KRT78 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT78 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT78 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT78 Gene

Proteins for KRT78 Gene

  • Protein details for KRT78 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1N4-K2C78_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 78
    Protein Accession:
    Q8N1N4
    Secondary Accessions:
    • A8K4D6
    • Q5HYM7
    • Q7RTT2

    Protein attributes for KRT78 Gene

    Size:
    520 amino acids
    Molecular mass:
    56866 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    SequenceCaution:
    • Sequence=DAA00377.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

    Alternative splice isoforms for KRT78 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KRT78 Gene

Post-translational modifications for KRT78 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT78 Gene

No data available for DME Specific Peptides for KRT78 Gene

Domains & Families for KRT78 Gene

Gene Families for KRT78 Gene

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

Protein Domains for KRT78 Gene

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

Suggested Antigen Peptide Sequences for KRT78 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54374, highly similar to Homo sapiens keratin 78 (KRT78), mRNA (B4DQ49_HUMAN)
  • Type-II keratin Kb40 (K2C78_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N1N4

UniProtKB/Swiss-Prot:

K2C78_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT78: view

Function for KRT78 Gene

Phenotypes From GWAS Catalog for KRT78 Gene

genes like me logo Genes that share phenotypes with KRT78: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT78

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT78 Gene

Localization for KRT78 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 KRT78 gene
Compartment Confidence
extracellular 4
cytosol 4
cytoskeleton 3
mitochondrion 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KRT78 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with KRT78: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT78 Gene

Pathways & Interactions for KRT78 Gene

PathCards logo

SuperPathways for KRT78 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT78: view

Pathways by source for KRT78 Gene

2 Reactome pathways for KRT78 Gene

Gene Ontology (GO) - Biological Process for KRT78 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT78: view

No data available for SIGNOR curated interactions for KRT78 Gene

Drugs & Compounds for KRT78 Gene

No Compound Related Data Available

Transcripts for KRT78 Gene

mRNA/cDNA for KRT78 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 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 KRT78

Alternative Splicing Database (ASD) splice patterns (SP) for KRT78 Gene

No ASD Table

Relevant External Links for KRT78 Gene

GeneLoc Exon Structure for
KRT78

Expression for KRT78 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT78 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT78 Gene

This gene is overexpressed in Esophagus - Mucosa (x29.3), Cervix - Ectocervix (x7.0), Vagina (x6.0), and Skin - Sun Exposed (Lower leg) (x4.2).

Protein differential expression in normal tissues from HIPED for KRT78 Gene

This gene is overexpressed in Saliva (42.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT78 Gene



Protein tissue co-expression partners for KRT78 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT78

SOURCE GeneReport for Unigene cluster for KRT78 Gene:

Hs.665267

mRNA Expression by UniProt/SwissProt for KRT78 Gene:

Q8N1N4-K2C78_HUMAN
Tissue specificity: In non-keratinising esophageal and vaginal epithelium, strongly expressed in the basal and parabasal/lower suprabasal cell layers with considerably decreased expression in the mid/upper suprabasal layers (at protein level) (PubMed:26340985). A similar gradient from basal to lower suprabasal layers is seen in the partially keratinised dorsal tongue epithelium, in the scalp and in the plantar epidermis (at protein level) (PubMed:26340985). Extension of expression into the suprabasal compartments is distinctly more pronounced in non-keratinising epithelia than in keratinising epithelia and epidermis (at protein level) (PubMed:26340985). In scalp sections, present in the interfollicular epidermis and infundibulum including the entire outer root sheath of the hair follicles and also in the sebocytes (at protein level) (PubMed:26340985). In sweat glands, expressed in peripheral and luminal cells of the lower duct and in peripheral cells of the middle/upper duct with no expression observed in luminal cells (at protein level) (PubMed:26340985). In embryos at the 14th week of pregnancy, detected in basal and parabasal layers but is absent from the uppermost epidermal layer (at protein level) (PubMed:26340985). Expressed in tongue epithelium (PubMed:15737194).

Evidence on tissue expression from TISSUES for KRT78 Gene

  • Skin(2.5)
genes like me logo Genes that share expression patterns with KRT78: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT78 Gene

Orthologs for KRT78 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT78 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT78 30 31
  • 98.72 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT78 30 31
  • 84.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT78 30 31
  • 82.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Krt78 30
  • 76.98 (n)
Mouse
(Mus musculus)
Mammalia Krt78 30 17 31
  • 76.65 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KRT78 31
  • 51 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KRT78 31
  • 39 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KRT78 31
  • 41 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KRT78 31
  • 38 (a)
OneToOne
Species where no ortholog for KRT78 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)
  • 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)
  • 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 KRT78 Gene

ENSEMBL:
Gene Tree for KRT78 (if available)
TreeFam:
Gene Tree for KRT78 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT78: view image

Paralogs for KRT78 Gene

(37) SIMAP similar genes for KRT78 Gene using alignment to 3 proteins:

  • K2C78_HUMAN
  • F8VS93_HUMAN
  • H0YI54_HUMAN
genes like me logo Genes that share paralogs with KRT78: view

Variants for KRT78 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT78 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
776708 Benign: not provided 52,848,605(-) G/A MISSENSE_VARIANT
778638 Benign: not provided 52,846,282(-) C/G MISSENSE_VARIANT
781073 Benign: not provided 52,839,904(-) G/A SYNONYMOUS_VARIANT
784242 Benign: not provided 52,848,691(-) C/T SYNONYMOUS_VARIANT
784243 Benign: not provided 52,848,911(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KRT78 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRT78 Gene

Variant ID Type Subtype PubMed ID
nsv1048816 CNV gain 25217958
nsv711 CNV insertion 18451855
nsv832416 CNV loss 17160897

Variation tolerance for KRT78 Gene

Residual Variation Intolerance Score: 97.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.64; 93.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT78 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT78

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT78 Gene

Disorders for KRT78 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRT78 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fiedler's myocarditis
  • fiedler myocarditis
- elite association - COSMIC cancer census association via MalaCards
Search KRT78 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KRT78

genes like me logo Genes that share disorders with KRT78: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRT78 Gene

Publications for KRT78 Gene

  1. Localisation of keratin K78 in the basal layer and first suprabasal layers of stratified epithelia completes expression catalogue of type II keratins and provides new insights into sequential keratin expression. (PMID: 26340985) Langbein L … Schweizer J (Cell and tissue research 2016) 3 4
  2. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. (PMID: 11683385) Hesse M … Weber K (Journal of cell science 2001) 3 4

Products for KRT78 Gene

Sources for KRT78 Gene