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 i... See more...

Aliases for KRT8 Gene

Aliases for KRT8 Gene

  • Keratin 8 2 3 5
  • CYK8 2 3 4
  • K8 2 3 4
  • Keratin, Type II Cytoskeletal 8 3 4
  • Type-II Keratin Kb8 3 4
  • Keratin 8, Type II 2 3
  • Cytokeratin-8 3 4
  • CARD2 2 3
  • CK-8 3 4
  • K2C8 2 3
  • CK8 2 3
  • KO 2 3
  • Keratin-8 4
  • KRT8 5

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 Liver Cirrhosis and Idiopathic Copper-Associated Cirrhosis. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Cytoskeletal Signaling. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for KRT8 Gene

Genomics for KRT8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT8

Top Transcription factor binding sites by QIAGEN in the KRT8 gene promoter:
  • AP-1
  • C/EBPalpha
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for KRT8 Gene

Latest Assembly
chr12:52,897,187-52,949,954
(GRCh38/hg38)
Size:
52,768 bases
Orientation:
Minus strand

Previous Assembly
chr12:53,290,975-53,343,644
(GRCh37/hg19 by Entrez Gene)
Size:
52,670 bases
Orientation:
Minus strand

chr12:53,290,977-53,343,738
(GRCh37/hg19 by Ensembl)
Size:
52,762 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 PNN. When associated with KRT19, interacts with DMD. Interacts with TCHP. Interacts with APEX1. Interacts with GPER1. Interacts with EPPK1 (By similarity).
    • (Microbial infection) Interacts with hepatitis C virus/HCV core protein.
    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

  • Phosphorylation on serine residues is enhanced during EGF stimulation and mitosis. Ser-74 phosphorylation plays an important role in keratin filament reorganization.
  • O-glycosylated. O-GlcNAcylation at multiple sites increases solubility, and decreases stability by inducing proteasomal degradation.
  • O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner.
  • Glycosylation at Ser13, Ser15, and Asn408
  • Ubiquitination at Lys11, Lys117, Lys122, Lys130, Lys207, Lys295, Lys325, and Lys352
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • K2C8_HUMAN (313)

Antibodies for research

No data available for DME Specific Peptides for KRT8 Gene

Domains & Families for KRT8 Gene

Gene Families for KRT8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT8 Gene

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

Suggested Antigen Peptide Sequences for KRT8 Gene

GenScript: Design optimal peptide antigens:
  • Type-II keratin Kb8 (K2C8_HUMAN)
  • KRT8 protein (Q969I0_HUMAN)

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

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

Phenotypes From GWAS Catalog for KRT8 Gene

Gene Ontology (GO) - Molecular Function for KRT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10852826
GO:0044877 protein-containing 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

Human Phenotype Ontology for KRT8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT8 Gene

MGI Knock Outs for KRT8:
  • Krt8 Krt8<tm1b(EUCOMM)Hmgu>
  • Krt8 Krt8<tm1Rgo>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT8

No data available for Enzyme Numbers (IUBMB) , 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
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,HDA 21630459
GO:0005654 nucleoplasm IEA --
GO:0005737 cytoplasm IEA,IDA 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 GeneGo (Thomson Reuters) pathway for KRT8 Gene
  • Cytoskeleton remodeling Keratin filaments
1 Cell Signaling Technology pathway for KRT8 Gene

SIGNOR curated interactions for KRT8 Gene

Is activated by:
Is inactivated 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
Tenecteplase Approved Pharma Target 60
Lanoteplase Investigational Pharma Target 0

(24) 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

mRNA/cDNA for KRT8 Gene

3 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
17 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 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

Expression for KRT8 Gene

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



Protein tissue co-expression partners for KRT8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Pancreas(4.9)
  • Lung(4.9)
  • Kidney(4.8)
  • Stomach(4.7)
  • Eye(3.4)
  • Heart(2.9)
  • Muscle(2.9)
  • Thyroid gland(2.9)
  • Blood(2.8)
  • Gall bladder(2.8)
  • Skin(2.5)
  • Lymph node(2.5)
  • Nervous system(2.4)
  • Spleen(2.3)
  • Adrenal gland(2.2)

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
Regions:
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 for research

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 30
  • 96 (a)
OneToOne
LOC464613 29
  • 92.32 (n)
Cow
(Bos Taurus)
Mammalia KRT8 29 30
  • 88.89 (n)
OneToMany
-- 30
  • 87 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia KRT8 29
  • 88.38 (n)
-- 30
  • 86 (a)
OneToMany
-- 30
  • 77 (a)
OneToMany
-- 30
  • 72 (a)
OneToMany
-- 30
  • 72 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Krt8 29 16 30
  • 85.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Krt8 29
  • 84.61 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia KRT8 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KRT8 30
  • 76 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KRT8 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia krt8 29
  • 69.72 (n)
Str.8042 29
African clawed frog
(Xenopus laevis)
Amphibia krt8-prov 29
Zebrafish
(Danio rerio)
Actinopterygii krt5 29
  • 71.51 (n)
krt8 30
  • 61 (a)
ManyToMany
zgc:158846 30
  • 58 (a)
ManyToMany
krt4 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.40 29
Species where no ortholog for KRT8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KRT8 Gene

ENSEMBL:
Gene Tree for KRT8 (if available)
TreeFam:
Gene Tree for KRT8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT8: view image
Alliance of Genome Resources:
Additional Orthologs for KRT8

Paralogs for KRT8 Gene

(52) SIMAP similar genes for KRT8 Gene using alignment to 8 proteins:

  • K2C8_HUMAN
  • F8VP67_HUMAN
  • F8VQY3_HUMAN
  • F8VRG4_HUMAN
  • F8VUG2_HUMAN
  • F8W1U3_HUMAN
  • H0YIB2_HUMAN
  • Q969I0_HUMAN
genes like me logo Genes that share paralogs with KRT8: view

Variants for KRT8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT8 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1029724 Uncertain Significance: Familial cirrhosis 52,949,379(-) G/C
NM_000224.3(KRT18):c.206G>C (p.Gly69Ala)
MISSENSE_VARIANT,INTRON
1032045 Pathogenic: Familial cirrhosis 52,898,678(-) C/T
NM_002273.4(KRT8):c.1202+1G>A
SPLICE_DONOR
rs112876857 Likely Benign: not provided 52,904,895(-) G/A
NM_002273.4(KRT8):c.87C>T (p.Pro29=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs11554495 Pathogenic, Risk Factor: Cirrhosis, cryptogenic; Cirrhosis, noncryptogenic, susceptibility to; not provided. Cirrhosis (CIRRH) [MIM:215600] 52,904,798(-) C/Ap.Gly62Cys
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs185715618 Benign: not provided 52,898,452(-) G/A
NM_002273.4(KRT8):c.1261+9C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT8 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 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)

Additional Variant Information for KRT8 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for KRT8 Gene

MalaCards: The human disease database

(102) MalaCards diseases for KRT8 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
liver cirrhosis
  • cirrhosis
idiopathic copper-associated cirrhosis
  • non-wilsonian hepatic copper toxicosis of infancy and childhood
cirrhosis, familial
  • familial cirrhosis
cryptogenic cirrhosis
  • cirrhosis, cryptogenic
hepatitis
  • acute and subacute liver necrosis
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for KRT8

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KRT8: view

No data available for Genatlas for KRT8 Gene

Publications for KRT8 Gene

  1. Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. (PMID: 12724528) Ku NO … Omary MB (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 72
  2. Embryonic simple epithelial keratins 8 and 18: chromosomal location emphasizes difference from other keratin pairs. (PMID: 1705144) Waseem A … Lane EB (The New biologist 1990) 2 3 4 22
  3. Analysis of keratin polypeptides 8 and 19 variants in inflammatory bowel disease. (PMID: 17509943) Tao GZ … Duerr RH (Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2007) 3 22 40
  4. Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19. (PMID: 16000376) Stone MR … Bloch RJ (Molecular biology of the cell 2005) 3 4 22
  5. Keratins as susceptibility genes for end-stage liver disease. (PMID: 16143128) Ku NO … Omary MB (Gastroenterology 2005) 3 22 40

Products for KRT8 Gene