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Aliases for KRT74 Gene

Aliases for KRT74 Gene

  • Keratin 74 2 3 5
  • Type II Inner Root Sheath-Specific Keratin-K6irs4 3 4
  • Type-II Keratin Kb37 3 4
  • Keratin 74, Type II 2 3
  • Cytokeratin-74 3 4
  • KRT6IRS4 3 4
  • K6IRS4 3 4
  • CK-74 3 4
  • KRT5C 3 4
  • K5C 3 4
  • K74 3 4
  • Keratin, Type II Cytoskeletal 74 3
  • Keratin 6 Irs4 3
  • Keratin 5c 3
  • Keratin-5c 4
  • Keratin-74 4
  • HTSS2 3
  • HYPT3 3
  • 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 Hypotrichosis 3 and Woolly Hair, Autosomal Dominant. Among its related pathways are Keratinization and Developmental Biology. 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 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).

Additional gene information for KRT74 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT74 Gene

Genomics for KRT74 Gene

GeneHancer (GH) Regulatory Elements for KRT74 Gene

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
GH12I052573 Promoter 0.5 EPDnew 550.8 +0.2 231 0.1 KRT74 KRT71 GC12P052549
GH12I052894 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -328.8 -328836 16.1 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GC12M052900 ZNF740 AAAS PCBP2 SP1 MAP3K12 ATF7 LOC100652999 EIF4B ENSG00000257808
GH12I052515 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE dbSUPER 10.6 +53.0 53048 11.4 PKNOX1 ZNF133 GLIS2 SCRT2 RCOR1 FOS DEK ZNF398 MAFF GLIS1 KRT5 GC12M052518 KRT6A KRT6C KRT71 KRT74 KRT84 KRT2 KRT4 KRT82
GH12I052867 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -293.6 -293648 1.4 ZNF664 USF1 USF2 KRT2 KRT74 KRT79 KRT4 KRT84 KRT8 KRT1 KRT77 KRT78 RPL7P41
GH12I052538 Enhancer 0.8 ENCODE 11.2 +34.7 34749 1 NFIB KLF17 MZF1 ZEB1 ZNF366 ZSCAN5C FOS ZNF398 ZEB2 TSHZ1 KRT74 KRT84 KRT4 GC12P052543 KRT5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRT74 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRT74 gene promoter:

Genomic Locations for KRT74 Gene

Genomic Locations for KRT74 Gene
chr12:52,565,722-52,574,092
(GRCh38/hg38)
Size:
8,371 bases
Orientation:
Minus strand
chr12:52,959,566-52,967,609
(GRCh37/hg19)

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.
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).
    SequenceCaution:
    • Sequence=DAA00404.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

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

Suggested Antigen Peptide Sequences for KRT74 Gene

GenScript: Design optimal peptide antigens:

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:0005198 structural molecule activity IEA --
GO:1990254 keratin filament binding IPI 20346438
genes like me logo Genes that share ontologies with KRT74: view

Phenotypes for KRT74 Gene

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

Animal Model Products

Clone Products

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
extracellular 5
cytosol 5
cytoskeleton 3
mitochondrion 1
peroxisome 1
nucleus 1

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,IDA 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

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

Interacting Proteins for KRT74 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000307240%0d%0a9606.ENSP00000443900%0d%0a9606.ENSP00000373637%0d%0a
Selected Interacting proteins: ENSP00000307240 Q7RTS7-K2C74_HUMAN for KRT74 Gene via STRING IID

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 :
(2) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT74 Gene

Keratin 74:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for KRT74 Gene

GeneLoc Exon Structure for
KRT74
ECgene alternative splicing isoforms for
KRT74

Expression for KRT74 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of KRT74 Gene:

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(4.5)
  • Heart(2.2)

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KRT74 Gene

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 33 34
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia KRT74 33 34
  • 85.07 (n)
cow
(Bos Taurus)
Mammalia KRT74 33 34
  • 84.69 (n)
mouse
(Mus musculus)
Mammalia Krt74 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 72 (a)
ManyToMany
-- 34
  • 71 (a)
ManyToMany
-- 34
  • 70 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 37 (a)
ManyToMany
Species where no ortholog for KRT74 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • 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)

Paralogs for KRT74 Gene

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

Variants for KRT74 Gene

Sequence variations from dbSNP and Humsavar for KRT74 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs147962513 pathogenic, benign, Ectodermal dysplasia, 'pure' hair-nail type, Ectodermal dysplasia 7, hair/nail type, not provided, Ectodermal dysplasia 7, hair/nail type (ECTD7) [MIM:614929] 52,571,381(-) A/G coding_sequence_variant, missense_variant
rs267607205 pathogenic, not-provided, Woolly hair, autosomal dominant, not provided, Woolly hair autosomal dominant (ADWH) [MIM:194300] 52,573,334(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs267607477 pathogenic, not-provided, Hypotrichosis 3, not provided, Hypotrichosis 3 (HYPT3) [MIM:613981] 52,567,115(-) C/T coding_sequence_variant, missense_variant
rs267607478 not-provided, not provided 52,567,169(-) C/T splice_acceptor_variant
rs1000317749 -- 52,569,791(-) C/T intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for KRT74 Gene

MalaCards: The human disease database

(23) MalaCards diseases for KRT74 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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
  • 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 mutations 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. {ECO:0000269 PubMed:21188418}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for KRT74

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 58
  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 58
  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 44 58

Products for KRT74 Gene

Sources for KRT74 Gene

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