This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in... See more...

Aliases for KRT24 Gene

Aliases for KRT24 Gene

  • Keratin 24 2 3 5
  • Keratin, Type I Cytoskeletal 24 3 4
  • Keratin 24, Type I 2 3
  • Type I Keratin-24 3 4
  • Cytokeratin-24 3 4
  • CK-24 3 4
  • KA24 3 4
  • K24 3 4
  • Keratin-24 4
  • MGC138169 2
  • MGC138173 2
  • FLJ20261 2
  • KRT24 5

External Ids for KRT24 Gene

Previous GeneCards Identifiers for KRT24 Gene

  • GC00U991194
  • GC17U900029
  • GC17M039228
  • GC17M039229
  • GC17M036108
  • GC17M038854
  • GC17M034648

Summaries for KRT24 Gene

Entrez Gene Summary for KRT24 Gene

  • This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009]

GeneCards Summary for KRT24 Gene

KRT24 (Keratin 24) is a Protein Coding gene. Diseases associated with KRT24 include Naegeli-Franceschetti-Jadassohn Syndrome and Brill-Zinsser Disease. Among its related pathways are Relaxin signaling pathway and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT10.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT24 Gene

Genomics for KRT24 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT24 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
GH17J040702 Enhancer 0.4 ENCODE 250.7 +1.3 1288 0.2 ZNF217 CTBP1 SMARCE1 DPF2 KRT24 ENSG00000224244 lnc-KRT24-1 KRT222
GH17J040703 Promoter 0.3 EPDnew 250.7 0.0 -20 0.1 KRT24 lnc-KRT24-2 KRT25
GH17J040705 Enhancer 0.2 Ensembl 250.7 -1.9 -1949 0.2 KRT24 lnc-KRT24-2 KRT25
GH17J040707 Enhancer 0.8 Ensembl ENCODE 41.3 -4.4 -4448 2 CEBPA CEBPB MAX EP300 PRDM1 RARA TBP GABPA ZNF146 JUND KRT24 KRT27 KRT222 SMARCE1 KRT37 lnc-KRT24-2 KRT25
GH17J039916 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +780.4 780383 14.4 BCLAF1 SP1 ZNF207 ZNF600 IKZF1 SIX5 SSRP1 JUND ZNF580 ATF2 ORMDL3 GSDMB lnc-LRRC3C-2 lnc-GSDMB-1 CDK12 MED1 SMARCE1 ENSG00000264968 IGFBP4 ENSG00000266208
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT24 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT24

Top Transcription factor binding sites by QIAGEN in the KRT24 gene promoter:
  • AP-4
  • ATF6
  • C/EBPbeta
  • CUTL1
  • FOXC1
  • LCR-F1
  • Nkx2-5
  • Oct-B1
  • RORalpha1
  • RORalpha2

Genomic Locations for KRT24 Gene

Latest Assembly
chr17:40,694,246-40,703,752
(GRCh38/hg38)
Size:
9,507 bases
Orientation:
Minus strand

Previous Assembly
chr17:38,854,243-38,860,004
(GRCh37/hg19 by Entrez Gene)
Size:
5,762 bases
Orientation:
Minus strand

chr17:38,854,243-38,860,002
(GRCh37/hg19 by Ensembl)
Size:
5,760 bases
Orientation:
Minus strand

Genomic View for KRT24 Gene

Genes around KRT24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT24 Gene

Proteins for KRT24 Gene

  • Protein details for KRT24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M2I5-K1C24_HUMAN
    Recommended name:
    Keratin, type I cytoskeletal 24
    Protein Accession:
    Q2M2I5
    Secondary Accessions:
    • Q9NXG7

    Protein attributes for KRT24 Gene

    Size:
    525 amino acids
    Molecular mass:
    55087 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

neXtProt entry for KRT24 Gene

Post-translational modifications for KRT24 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT24 Gene

No data available for DME Specific Peptides for KRT24 Gene

Domains & Families for KRT24 Gene

Gene Families for KRT24 Gene

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

Protein Domains for KRT24 Gene

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

Suggested Antigen Peptide Sequences for KRT24 Gene

GenScript: Design optimal peptide antigens:
  • Type I keratin-24 (K1C24_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M2I5

UniProtKB/Swiss-Prot:

K1C24_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT24: view

Function for KRT24 Gene

Molecular function for KRT24 Gene

UniProtKB/Swiss-Prot Induction:
Up-regulated in the mucosa of patients suffering of colorectal cancer.

Phenotypes From GWAS Catalog for KRT24 Gene

Gene Ontology (GO) - Molecular Function for KRT24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with KRT24: view
genes like me logo Genes that share phenotypes with KRT24: view

miRNA for KRT24 Gene

miRTarBase miRNAs that target KRT24

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT24

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT24 Gene

Localization for KRT24 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 KRT24 gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 4
nucleus 3
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRT24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with KRT24: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT24 Gene

Pathways & Interactions for KRT24 Gene

genes like me logo Genes that share pathways with KRT24: view

Pathways by source for KRT24 Gene

2 Reactome pathways for KRT24 Gene

Gene Ontology (GO) - Biological Process for KRT24 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 KRT24: view

No data available for SIGNOR curated interactions for KRT24 Gene

Drugs & Compounds for KRT24 Gene

No Compound Related Data Available

Transcripts for KRT24 Gene

mRNA/cDNA for KRT24 Gene

1 REFSEQ mRNAs :
3 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 KRT24

Alternative Splicing Database (ASD) splice patterns (SP) for KRT24 Gene

No ASD Table

Relevant External Links for KRT24 Gene

GeneLoc Exon Structure for
KRT24

Expression for KRT24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT24 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT24 Gene

This gene is overexpressed in Esophagus - Mucosa (x42.4).

Protein differential expression in normal tissues from HIPED for KRT24 Gene

This gene is overexpressed in Skin (25.6), Cervix (17.9), and Heart (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT24 Gene



Protein tissue co-expression partners for KRT24 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT24

SOURCE GeneReport for Unigene cluster for KRT24 Gene:

Hs.87383

mRNA Expression by UniProt/SwissProt for KRT24 Gene:

Q2M2I5-K1C24_HUMAN
Tissue specificity: Highly expressed in keratinocytes, placenta, colon and spleen. Expressed at lower level in thymus and testis.

Evidence on tissue expression from TISSUES for KRT24 Gene

  • Gall bladder(5)
  • Intestine(4.5)
  • Eye(2.5)
  • Kidney(2.4)
  • Blood(2.3)
  • Skin(2.1)
  • Nervous system(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with KRT24: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT24 Gene

Orthologs for KRT24 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT24 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT24 29 30
  • 98.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT24 29 30
  • 87.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT24 29 30
  • 86.68 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 80 (a)
OneToMany
-- 30
  • 72 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Krt24 29
  • 79.68 (n)
Mouse
(Mus musculus)
Mammalia Krt24 29 16 30
  • 79.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KRT24 30
  • 77 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KRT24 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487269 29
  • 66.09 (n)
Species where no ortholog for KRT24 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KRT24 Gene

ENSEMBL:
Gene Tree for KRT24 (if available)
TreeFam:
Gene Tree for KRT24 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT24: view image
Alliance of Genome Resources:
Additional Orthologs for KRT24

Paralogs for KRT24 Gene

Pseudogenes.org Pseudogenes for KRT24 Gene

genes like me logo Genes that share paralogs with KRT24: view

Variants for KRT24 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT24 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs12945784 Benign: not provided 40,699,561(-) C/Tp.Cys415Tyr
NM_019016.3(KRT24):c.1244G>A (p.Cys415Tyr)
MISSENSE
rs12946793 Benign: not provided 40,699,553(-) A/Gp.Trp418Arg
NM_019016.3(KRT24):c.1252T>C (p.Trp418Arg)
MISSENSE
rs141109948 Benign: not provided 40,703,142(-) T/C
NM_019016.3(KRT24):c.552A>G (p.Gly184=)
SYNONYMOUS
rs146312140 Likely Benign: not provided 40,703,667(-) G/A
NM_019016.3(KRT24):c.27C>T (p.Ser9=)
SYNONYMOUS
rs61237409 Benign: not provided 40,703,412(-) G/A
NM_019016.3(KRT24):c.282C>T (p.Gly94=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT24 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 KRT24 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159

Variation tolerance for KRT24 Gene

Residual Variation Intolerance Score: 70.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.60; 98.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT24 Gene

Human Gene Mutation Database (HGMD)
KRT24
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT24
Leiden Open Variation Database (LOVD)
KRT24

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT24 Gene

Disorders for KRT24 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KRT24 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KRT24 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KRT24

genes like me logo Genes that share disorders with KRT24: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRT24 Gene

Publications for KRT24 Gene

  1. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. (PMID: 12230514) Sprecher E … Richard G (The Journal of investigative dermatology 2002) 3 4 22
  2. A susceptibility gene set for early onset colorectal cancer that integrates diverse signaling pathways: implication for tumorigenesis. (PMID: 17317818) Hong Y … Cheah PY (Clinical cancer research : an official journal of the American Association for Cancer Research 2007) 3 4
  3. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. (PMID: 32487729) Rausell A … Abel L (Proceedings of the National Academy of Sciences of the United States of America 2020) 3

Products for KRT24 Gene

Sources for KRT24 Gene