Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009] See more...

Aliases for KRT74 Gene

Aliases for KRT74 Gene

  • Keratin 74 2 3 5
  • KRT6IRS4 2 3 4
  • K6IRS4 2 3 4
  • KRT5C 2 3 4
  • Type II Inner Root Sheath-Specific Keratin-K6irs4 3 4
  • Keratin, Type II Cytoskeletal 74 3 4
  • Type-II Keratin Kb37 3 4
  • Keratin 74, Type II 2 3
  • Cytokeratin-74 3 4
  • CK-74 3 4
  • K5C 3 4
  • K74 3 4
  • Keratin 6 Irs4 3
  • Keratin 5c 3
  • Keratin-5c 4
  • Keratin-74 4
  • HTSS2 3
  • HYPT3 3
  • KRT74 5
  • ADWH 3
  • KB37 4

External Ids for KRT74 Gene

Previous GeneCards Identifiers for KRT74 Gene

  • GC12M051246
  • GC12M052959
  • GC12M050003

Summaries for KRT74 Gene

Entrez Gene Summary for KRT74 Gene

  • Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009]

GeneCards Summary for KRT74 Gene

KRT74 (Keratin 74) is a Protein Coding gene. Diseases associated with KRT74 include Ectodermal Dysplasia 7, Hair/Nail Type and Hypotrichosis 3. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity and keratin filament binding. An important paralog of this gene is KRT71.

UniProtKB/Swiss-Prot Summary for KRT74 Gene

  • Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT74 Gene

Genomics for KRT74 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT74 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
GH12J052894 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -329.1 -329085 16.1 LARP7 SP1 ZNF654 MYC NCOR1 ZNF600 IKZF1 SSRP1 JUND ZNF580 HSALNG0091217 ZNF740 AAAS TARBP2 MAP3K12 SP1 PCBP2 CSAD LOC100652999 ENSG00000257808
GH12J052515 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 +52.5 52477 12.1 ZIC2 DEK MAX CTBP1 MAFF SMC3 ZNF316 JUND FOSL2 MAFK KRT5 HSALNG0091189 HSALNG0091190 lnc-KRT6A-1 KRT6A KRT6C KRT71 KRT74 KRT84 KRT2
GH12J052609 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 10.8 -37.2 -37158 17.2 ZIC2 USF2 RAD51 ATF4 TOE1 HDAC8 GLIS1 L3MBTL2 ZMYM3 ZFP3 KRT73-AS1 KRT72 KRT2 KRT1 KRT74 KRT71 KRT78 KRT4 KRT79 KRT76
GH12J052538 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 11.2 +34.3 34342 2.6 NFIC ZNF341 ZEB1 KLF9 ZNF843 PRDM6 ZBTB48 ZNF24 NFIB GLIS1 KRT74 KRT84 KRT4 KRT71 HSALNG0091191 KRT5 HSALNG0091190
GH12J052867 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 11.1 -293.9 -293897 1.4 ZNF664 USF2 USF1 KRT2 KRT74 KRT79 KRT4 KRT84 KRT8 KRT1 KRT77 lnc-KRT8-2 KRT78
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT74 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT74

Top Transcription factor binding sites by QIAGEN in the KRT74 gene promoter:
  • AML1a
  • E47
  • ER-alpha
  • FOXF2
  • GATA-1
  • LCR-F1
  • p53
  • POU2F1
  • POU2F1a

Genomic Locations for KRT74 Gene

Latest Assembly
chr12:52,565,782-52,573,843
(GRCh38/hg38)
Size:
8,062 bases
Orientation:
Minus strand

Previous Assembly
chr12:52,959,566-52,967,627
(GRCh37/hg19 by Entrez Gene)
Size:
8,062 bases
Orientation:
Minus strand

chr12:52,959,566-52,967,609
(GRCh37/hg19 by Ensembl)
Size:
8,044 bases
Orientation:
Minus strand

Genomic View for KRT74 Gene

Genes around KRT74 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT74 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT74 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT74 Gene

Proteins for KRT74 Gene

  • Protein details for KRT74 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTS7-K2C74_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 74
    Protein Accession:
    Q7RTS7
    Secondary Accessions:
    • B5MD61
    • Q86Y45

    Protein attributes for KRT74 Gene

    Size:
    529 amino acids
    Molecular mass:
    57865 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    SequenceCaution:
    • Sequence=DAA00404.1; 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).

neXtProt entry for KRT74 Gene

Post-translational modifications for KRT74 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT74 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT74 Gene

Domains & Families for KRT74 Gene

Gene Families for KRT74 Gene

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

Protein Domains for KRT74 Gene

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

Suggested Antigen Peptide Sequences for KRT74 Gene

GenScript: Design optimal peptide antigens:
  • Type-II keratin Kb37 (K2C74_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7RTS7

UniProtKB/Swiss-Prot:

K2C74_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT74: view

Function for KRT74 Gene

Molecular function for KRT74 Gene

UniProtKB/Swiss-Prot Function:
Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).

Phenotypes From GWAS Catalog for KRT74 Gene

Gene Ontology (GO) - Molecular Function for KRT74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:1990254 keratin filament binding IPI 20346438
genes like me logo Genes that share ontologies with KRT74: view
genes like me logo Genes that share phenotypes with KRT74: view

Human Phenotype Ontology for KRT74 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT74

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT74 Gene

Localization for KRT74 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 KRT74 gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 3
mitochondrion 1
nucleus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for KRT74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20346438
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with KRT74: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT74 Gene

Pathways & Interactions for KRT74 Gene

PathCards logo

SuperPathways for KRT74 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT74: view

Pathways by source for KRT74 Gene

2 Reactome pathways for KRT74 Gene

Gene Ontology (GO) - Biological Process for KRT74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
GO:0045104 intermediate filament cytoskeleton organization IDA 20346438
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT74: view

No data available for SIGNOR curated interactions for KRT74 Gene

Drugs & Compounds for KRT74 Gene

No Compound Related Data Available

Transcripts for KRT74 Gene

mRNA/cDNA for KRT74 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 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 KRT74

Alternative Splicing Database (ASD) splice patterns (SP) for KRT74 Gene

No ASD Table

Relevant External Links for KRT74 Gene

GeneLoc Exon Structure for
KRT74

Expression for KRT74 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT74 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)
  • Heart (Cardiovascular System)

mRNA differential expression in normal tissues according to GTEx for KRT74 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x42.3) and Skin - Sun Exposed (Lower leg) (x6.6).

Protein differential expression in normal tissues from HIPED for KRT74 Gene

This gene is overexpressed in Saliva (33.0), Urine (12.7), and Cervix (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT74 Gene



Protein tissue co-expression partners for KRT74 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT74

SOURCE GeneReport for Unigene cluster for KRT74 Gene:

Hs.660125

mRNA Expression by UniProt/SwissProt for KRT74 Gene:

Q7RTS7-K2C74_HUMAN
Tissue specificity: Highly expressed in hair follicles from scalp. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS Huxley layer, but not in Henle layer or cuticle of the IRS. In the IRS Huxley layer, it is expressed in specialized Huxley cells, termed 'Fluegelzellen, along the area of differentiated Henle cells (at protein level).

Evidence on tissue expression from TISSUES for KRT74 Gene

  • Skin(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT74 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • scalp
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with KRT74: view

Primer products for research

Orthologs for KRT74 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT74 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT74 29 30
  • 99.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT74 29 30
  • 85.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT74 29 30
  • 84.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Krt74 30
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 72 (a)
ManyToMany
-- 30
  • 71 (a)
ManyToMany
-- 30
  • 70 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 37 (a)
ManyToMany
Species where no ortholog for KRT74 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 KRT74 Gene

ENSEMBL:
Gene Tree for KRT74 (if available)
TreeFam:
Gene Tree for KRT74 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT74: view image
Alliance of Genome Resources:
Additional Orthologs for KRT74

Paralogs for KRT74 Gene

(39) SIMAP similar genes for KRT74 Gene using alignment to 2 proteins:

  • K2C74_HUMAN
  • F8W1S1_HUMAN
genes like me logo Genes that share paralogs with KRT74: view

Variants for KRT74 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT74 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1033212 Pathogenic: Woolly hair, autosomal dominant 52,568,252(-) CTCGCGCAGCA/C
NM_175053.4(KRT74):c.1262_1271del (p.Met421fs)
FRAMESHIFT
1034382 Pathogenic: Woolly hair, autosomal dominant 52,571,970(-) C/A
NM_175053.4(KRT74):c.721G>T (p.Glu241Ter)
NONSENSE
1034383 Pathogenic: Ectodermal dysplasia 7, hair/nail type 52,570,824(-) G/A
NM_175053.4(KRT74):c.853C>T (p.Gln285Ter)
NONSENSE
997585 Pathogenic: Woolly hair, autosomal dominant 52,573,559(-) G/C
NM_175053.4(KRT74):c.219C>G (p.Tyr73Ter)
NONSENSE
rs114132371 Benign: not provided 52,567,044(-) C/A
NM_175053.4(KRT74):c.1515G>T (p.Ala505=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT74 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 KRT74 Gene

Variant ID Type Subtype PubMed ID
esv23533 CNV loss 19812545
esv988599 CNV deletion 20482838
nsv428281 CNV gain 18775914
nsv832415 CNV loss 17160897
nsv975492 CNV duplication 23825009

Variation tolerance for KRT74 Gene

Residual Variation Intolerance Score: 97.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.15; 96.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT74 Gene

Human Gene Mutation Database (HGMD)
KRT74
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT74
Leiden Open Variation Database (LOVD)
KRT74

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT74 Gene

Disorders for KRT74 Gene

MalaCards: The human disease database

(22) MalaCards diseases for KRT74 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KRT74 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K2C74_HUMAN
  • Woolly hair autosomal dominant (ADWH) [MIM:194300]: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. {ECO:0000269 PubMed:20346438}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hypotrichosis 3 (HYPT3) [MIM:613981]: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT3 inheritance is autosomal dominant. {ECO:0000269 PubMed:21188418}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Ectodermal dysplasia 7, hair/nail type (ECTD7) [MIM:614929]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. {ECO:0000269 PubMed:24714551}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KRT74

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 KRT74: view

No data available for Genatlas for KRT74 Gene

Publications for KRT74 Gene

  1. K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. (PMID: 12648212) Langbein L … Schweizer J (The Journal of investigative dermatology 2003) 2 3 4 22
  2. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. (PMID: 24714551) Raykova D … Dahl N (PloS one 2014) 3 4 72
  3. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. (PMID: 21188418) Wasif N … Ahmad W (Human genetics 2011) 3 4 72
  4. Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. (PMID: 20346438) Shimomura Y … Christiano AM (American journal of human genetics 2010) 3 4 72
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for KRT74 Gene

Sources for KRT74 Gene