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Aliases for KRT8 Gene

Aliases for KRT8 Gene

  • Keratin 8 2 3 5
  • Type-II Keratin Kb8 3 4
  • Keratin 8, Type II 2 3
  • Cytokeratin-8 3 4
  • CK-8 3 4
  • CYK8 3 4
  • K8 3 4
  • Keratin, Type II Cytoskeletal 8 3
  • Keratin-8 4
  • CARD2 3
  • K2C8 3
  • CK8 3
  • KO 3

External Ids for KRT8 Gene

Previous GeneCards Identifiers for KRT8 Gene

  • GC12P053389
  • GC12P053619
  • GC12M053007
  • GC12M051577
  • GC12M053290
  • GC12M050334

Summaries for KRT8 Gene

Entrez Gene Summary for KRT8 Gene

  • This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for KRT8 Gene

KRT8 (Keratin 8) is a Protein Coding gene. Diseases associated with KRT8 include Cirrhosis, Cryptogenic and Hidrocystoma. Among its related pathways are Signaling mediated by p38-alpha and p38-beta and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural molecule activity and scaffold protein binding. An important paralog of this gene is KRT5.

UniProtKB/Swiss-Prot for KRT8 Gene

  • Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.

Gene Wiki entry for KRT8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT8 Gene

Genomics for KRT8 Gene

Regulatory Elements for KRT8 Gene

Enhancers for KRT8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G052941 2 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +2.3 2344 11.7 MLX CREB3L1 ZFP64 YBX1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SPRYD3 MAP3K12 KRT18 KRT8 KRT71 EIF4B LOC283335 GC12M052900
GH12G052894 2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +47.0 47027 16.1 MLX CREB3L1 AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 AAAS ZNF740 MAP3K12 KRT18 SP1 SPRYD3 EIF4B LOC100652999 KRT74 KRT78
GH12G052869 2.1 FANTOM5 Ensembl ENCODE dbSUPER 7.3 +76.6 76629 7.1 CREB3L1 MLX DMAP1 SLC30A9 ZNF143 ZNF263 SP3 NFYC GLIS1 NBN MAP3K12 KRT2 SPRYD3 KRT84 ZNF740 PFDN5 KRT79 KRT4 KRT8 KRT18
GH12G052923 1.7 Ensembl ENCODE dbSUPER 9 +23.1 23108 6.2 CREB3L1 DMAP1 YBX1 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC MEF2D MAP3K12 ZNF740 KRT18 PFDN5 KRT84 KRT8 GC12M052900
GH12G052911 1.2 ENCODE dbSUPER 8.7 +36.0 36008 4.8 ATF1 ARNT E2F7 TCF12 GATA2 NCOA1 REST ZNF592 SREBF1 CREB3 KRT18 KRT78 KRT84 KRT8 IGFBP6 SOAT2 GC12M052900
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRT8 on UCSC Golden Path with GeneCards custom track

Promoters for KRT8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052118 354 1601 MLX CREB3L1 ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC

Genomic Location for KRT8 Gene

Chromosome:
12
Start:
52,897,187 bp from pter
End:
52,949,954 bp from pter
Size:
52,768 bases
Orientation:
Minus strand

Genomic View for KRT8 Gene

Genes around KRT8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT8 Gene

Proteins for KRT8 Gene

  • Protein details for KRT8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05787-K2C8_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 8
    Protein Accession:
    P05787
    Secondary Accessions:
    • A8K4H3
    • B0AZN5
    • F8VXB4
    • Q14099
    • Q14716
    • Q14717
    • Q53GJ0
    • Q6DHW5
    • Q6GMY0
    • Q6P4C7
    • Q96J60

    Protein attributes for KRT8 Gene

    Size:
    483 amino acids
    Molecular mass:
    53704 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. KRT8 associates with KRT18. Associates with KRT20. Interacts with HCV core protein and PNN. When associated with KRT19, interacts with DMD. Interacts with TCHP. Interacts with APEX1. Interacts with GPER1. Interacts with EPPK1 (By similarity).
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

    Alternative splice isoforms for KRT8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KRT8 Gene

Post-translational modifications for KRT8 Gene

  • O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner.
  • O-glycosylated. O-GlcNAcylation at multiple sites increases solubility, and decreases stability by inducing proteasomal degradation.
  • Phosphorylation on serine residues is enhanced during EGF stimulation and mitosis. Ser-74 phosphorylation plays an important role in keratin filament reorganization.
  • Ubiquitination at posLast=1111, posLast=117117, posLast=122122, isoforms=2130, posLast=207207, posLast=295295, and isoforms=2325
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KRT8 (K8)

No data available for DME Specific Peptides for KRT8 Gene

Domains & Families for KRT8 Gene

Gene Families for KRT8 Gene

Suggested Antigen Peptide Sequences for KRT8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P05787

UniProtKB/Swiss-Prot:

K2C8_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT8: view

Function for KRT8 Gene

Molecular function for KRT8 Gene

GENATLAS Biochemistry:
keratin 8,type II,early embryonic,dimerizing with KRT18
UniProtKB/Swiss-Prot Function:
Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.

Gene Ontology (GO) - Molecular Function for KRT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 10852826
GO:0032403 protein complex binding IEA --
GO:0097110 scaffold protein binding IPI 10852826
genes like me logo Genes that share ontologies with KRT8: view
genes like me logo Genes that share phenotypes with KRT8: view

Animal Models for KRT8 Gene

MGI Knock Outs for KRT8:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KRT8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KRT8 Gene

Localization for KRT8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KRT8 Gene

Cytoplasm. Nucleus, nucleoplasm. Nucleus matrix.

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 KRT8 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for KRT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21630459
GO:0005654 nucleoplasm IEA --
GO:0005737 cytoplasm IDA,IEA 15846844
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA,IDA 10852826
genes like me logo Genes that share ontologies with KRT8: view

Pathways & Interactions for KRT8 Gene

genes like me logo Genes that share pathways with KRT8: view

Pathways by source for KRT8 Gene

1 Cell Signaling Technology pathway for KRT8 Gene
2 Reactome pathways for KRT8 Gene
1 GeneGo (Thomson Reuters) pathway for KRT8 Gene

SIGNOR curated interactions for KRT8 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for KRT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016032 viral process IEA --
GO:0031424 keratinization TAS --
GO:0033209 tumor necrosis factor-mediated signaling pathway IEA --
GO:0045214 sarcomere organization IEA --
GO:0051599 response to hydrostatic pressure IEA --
genes like me logo Genes that share ontologies with KRT8: view

Drugs & Compounds for KRT8 Gene

(29) Drugs for KRT8 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tenecteplase Approved Pharma Target 40

(26) Additional Compounds for KRT8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT8: view

Transcripts for KRT8 Gene

Unigene Clusters for KRT8 Gene

Keratin 8:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KRT8

Alternative Splicing Database (ASD) splice patterns (SP) for KRT8 Gene

No ASD Table

Relevant External Links for KRT8 Gene

GeneLoc Exon Structure for
KRT8
ECgene alternative splicing isoforms for
KRT8

Expression for KRT8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT8 Gene

mRNA differential expression in normal tissues according to GTEx for KRT8 Gene

This gene is overexpressed in Colon - Transverse (x11.7), Small Intestine - Terminal Ileum (x4.9), and Pancreas (x4.9).

Protein differential expression in normal tissues from HIPED for KRT8 Gene

This gene is overexpressed in Liver, secretome (14.1), Stomach (6.8), Salivary gland (6.7), and Islet of Langerhans (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT8 Gene



Protein tissue co-expression partners for KRT8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KRT8 Gene:

KRT8

SOURCE GeneReport for Unigene cluster for KRT8 Gene:

Hs.533782

mRNA Expression by UniProt/SwissProt for KRT8 Gene:

P05787-K2C8_HUMAN
Tissue specificity: Observed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma membrane in structures that contain dystrophin and spectrin. Expressed in gingival mucosa and hard palate of the oral cavity.

Evidence on tissue expression from TISSUES for KRT8 Gene

  • Intestine(5)
  • Liver(4.9)
  • Lung(4.9)
  • Pancreas(4.9)
  • Kidney(4.7)
  • Stomach(4.7)
  • Eye(3.2)
  • Muscle(2.7)
  • Gall bladder(2.5)
  • Thyroid gland(2.4)
  • Skin(2.3)
  • Heart(2.2)
  • Blood(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
  • heart
  • lung
Abdomen:
  • kidney
  • liver
  • spleen
  • stomach
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with KRT8: view

Primer Products

Orthologs for KRT8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT8 35
  • 96 (a)
OneToOne
LOC464613 34
  • 92.32 (n)
cow
(Bos Taurus)
Mammalia KRT8 34 35
  • 88.89 (n)
-- 35
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia KRT8 34
  • 88.38 (n)
-- 35
  • 86 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Krt8 34 16 35
  • 85.02 (n)
rat
(Rattus norvegicus)
Mammalia Krt8 34
  • 84.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KRT8 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRT8 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KRT8 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia krt8 34
  • 69.72 (n)
Str.8042 34
African clawed frog
(Xenopus laevis)
Amphibia krt8-prov 34
zebrafish
(Danio rerio)
Actinopterygii krt5 34
  • 71.51 (n)
krt8 35
  • 61 (a)
ManyToMany
zgc:158846 35
  • 58 (a)
ManyToMany
krt4 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.40 34
Species where no ortholog for KRT8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KRT8 Gene

ENSEMBL:
Gene Tree for KRT8 (if available)
TreeFam:
Gene Tree for KRT8 (if available)

Paralogs for KRT8 Gene

genes like me logo Genes that share paralogs with KRT8: view

Variants for KRT8 Gene

Sequence variations from dbSNP and Humsavar for KRT8 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs11554495 Pathogenic, Cirrhosis (CIRRH) [MIM:215600] 52,904,798(-) TGGGA(G/T)GCATC nc-transcript-variant, reference, missense
rs61710484 untested, Cirrhosis (CIRRH) [MIM:215600] 52,904,824(-) CGGCG(A/G/T)CTATG nc-transcript-variant, reference, missense
VAR_023059 Cirrhosis (CIRRH) [MIM:215600]
rs57749775 Pathogenic 52,904,822(-) GCGGC(A/C/T)ATGGT nc-transcript-variant, reference, missense
rs57758506 Pathogenic 52,949,556(+) GAGCC(A/T)TTACT intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KRT8 Gene

Variant ID Type Subtype PubMed ID
esv3581638 CNV gain 25503493
esv3629533 CNV loss 21293372
nsv53037 CNV deletion 16902084
nsv558965 CNV loss 21841781
nsv819337 CNV loss 19587683
nsv832416 CNV loss 17160897
nsv952181 CNV deletion 24416366
nsv983328 CNV duplication 23825009

Variation tolerance for KRT8 Gene

Residual Variation Intolerance Score: 86.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.01; 60.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT8 Gene

Human Gene Mutation Database (HGMD)
KRT8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT8 Gene

Disorders for KRT8 Gene

MalaCards: The human disease database

(71) MalaCards diseases for KRT8 Gene - From: OMIM, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cirrhosis, cryptogenic
  • cirrhosis, noncryptogenic
hidrocystoma
  • apocrine cystadenoma
proliferating trichilemmal cyst
  • proliferating pilar cyst
endolymphatic sac tumor
  • elst
idiopathic corneal edema
- elite association - COSMIC cancer census association via MalaCards
Search KRT8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K2C8_HUMAN
  • Cirrhosis (CIRRH) [MIM:215600]: A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. {ECO:0000269 PubMed:12724528}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRT8

Genetic Association Database (GAD)
KRT8
Human Genome Epidemiology (HuGE) Navigator
KRT8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT8
genes like me logo Genes that share disorders with KRT8: view

No data available for Genatlas for KRT8 Gene

Publications for KRT8 Gene

  1. Embryonic simple epithelial keratins 8 and 18: chromosomal location emphasizes difference from other keratin pairs. (PMID: 1705144) Waseem A. … Lane E.B. (New Biol. 1990) 2 3 4 22 64
  2. Analysis of keratin polypeptides 8 and 19 variants in inflammatory bowel disease. (PMID: 17509943) Tao G.Z. … Duerr R.H. (Clin. Gastroenterol. Hepatol. 2007) 3 22 46 64
  3. Keratins as susceptibility genes for end-stage liver disease. (PMID: 16143128) Ku N.O. … Omary M.B. (Gastroenterology 2005) 3 22 46 64
  4. Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. (PMID: 12724528) Ku N.-O. … Omary M.B. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 22 64
  5. The intermediate filament protein keratin 8 is a novel cytoplasmic substrate for c-Jun N-terminal kinase. (PMID: 11781324) He T. … Eriksson J.E. (J. Biol. Chem. 2002) 3 4 22 64

Products for KRT8 Gene

  • Addgene plasmids for KRT8

Sources for KRT8 Gene

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