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. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an ess... See more...

Aliases for KRT75 Gene

Aliases for KRT75 Gene

  • Keratin 75 2 3 5
  • Keratin, Type II Cytoskeletal 75 3 4
  • Keratin-6 Hair Follicle 3 4
  • Type II Keratin-K6hf 3 4
  • Type-II Keratin Kb18 3 4
  • Keratin 75, Type II 2 3
  • Cytokeratin-75 3 4
  • CK-75 3 4
  • HK6hf 3 4
  • K6HF 3 4
  • KB18 3 4
  • K75 3 4
  • Cytokeratin Type II 3
  • Type II Keratin-18 3
  • Keratin-75 4
  • PFB 3

External Ids for KRT75 Gene

Previous GeneCards Identifiers for KRT75 Gene

  • GC12M051105
  • GC12M052817
  • GC12M049861

Summaries for KRT75 Gene

Entrez Gene Summary for KRT75 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. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]

GeneCards Summary for KRT75 Gene

KRT75 (Keratin 75) is a Protein Coding gene. Diseases associated with KRT75 include Pseudofolliculitis Barbae and Loose Anagen Hair Syndrome. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT5.

UniProtKB/Swiss-Prot Summary for KRT75 Gene

  • Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.

Additional gene information for KRT75 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT75 Gene

Genomics for KRT75 Gene

GeneHancer (GH) Regulatory Elements for KRT75 Gene

Promoters and enhancers for KRT75 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
GH12J052436 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 750.6 -1.6 -1567 3.3 NFIB SP7 ZSCAN21 GLIS2 PRDM10 ZNF639 ZEB2 ZNF629 PATZ1 ZNF501 KRT75 KRT6C KRT6A HSALNG0091184-001 lnc-KRT6B-1
GH12J052515 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.5 -86.7 -86673 11.4 ZNF133 MAFK ZSCAN21 FOSL2 GLIS2 CREB1 ZIC2 ZBTB33 CTBP1 CHD2 KRT5 HSALNG0091190 lnc-KRT6A-1 KRT6A ZNF740 KRT6C KRT71 TARBP2 MAP3K12 KRT74
GH12J052491 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.5 -60.2 -60186 6.4 SP1 ZIC2 CEBPB ATF7 SCRT2 STAT1 STAT3 WT1 FOSL2 SIN3A KRT6A KRT6B JA662198 KRT6C KRT5 KRT71 KRT82 KRT84 KRT87P KRT86
GH12J052439 Enhancer 1 Ensembl ENCODE dbSUPER 0.4 -7.3 -7330 3.8 ZSCAN21 PRDM1 ZIC2 PRDM10 CEBPB PKNOX1 POLR2A SP1 EP300 OSR2 KRT6C KRT84 KRT2 KRT4 KRT6A HSALNG0091184-001 KRT75 lnc-KRT6B-1
GH12J052438 Enhancer 0.4 dbSUPER 0.6 -4.5 -4493 1.2 ZNF692 SCRT2 GLIS1 KRT6C KRT75 HSALNG0091184-001 lnc-KRT6B-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT75 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRT75 gene promoter:
  • AML1a
  • AP-1
  • Bach2
  • C/EBPalpha
  • CHOP-10
  • FOXC1
  • GATA-2
  • JunD
  • SEF-1 (1)
  • TBP

Genomic Locations for KRT75 Gene

Genomic Locations for KRT75 Gene
chr12:52,424,070-52,434,371
(GRCh38/hg38)
Size:
10,302 bases
Orientation:
Minus strand
chr12:52,817,854-52,828,309
(GRCh37/hg19)
Size:
10,456 bases
Orientation:
Minus strand

Genomic View for KRT75 Gene

Genes around KRT75 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT75 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT75 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT75 Gene

Proteins for KRT75 Gene

  • Protein details for KRT75 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95678-K2C75_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 75
    Protein Accession:
    O95678
    Secondary Accessions:
    • B4DQU4
    • Q9NSA9

    Protein attributes for KRT75 Gene

    Size:
    551 amino acids
    Molecular mass:
    59560 Da
    Quaternary structure:
    • Heterodimer of a type I and a type II keratin. May associate with KRT17.
    Miscellaneous:
    • May be used as a marker of hair differentiation.
    • 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=BAG61056.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KRT75 Gene

Post-translational modifications for KRT75 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT75 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT75 Gene

Domains & Families for KRT75 Gene

Gene Families for KRT75 Gene

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

Suggested Antigen Peptide Sequences for KRT75 Gene

GenScript: Design optimal peptide antigens:
  • Type-II keratin Kb18 (K2C75_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95678

UniProtKB/Swiss-Prot:

K2C75_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT75: view

Function for KRT75 Gene

Molecular function for KRT75 Gene

UniProtKB/Swiss-Prot Function:
Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.

Phenotypes From GWAS Catalog for KRT75 Gene

Gene Ontology (GO) - Molecular Function for KRT75 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 9856802
genes like me logo Genes that share ontologies with KRT75: view
genes like me logo Genes that share phenotypes with KRT75: view

Animal Model Products

CRISPR Products

miRNA for KRT75 Gene

miRTarBase miRNAs that target KRT75

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT75

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT75 Gene

Localization for KRT75 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 KRT75 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRT75 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IDA 15086549
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with KRT75: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT75 Gene

Pathways & Interactions for KRT75 Gene

PathCards logo

SuperPathways for KRT75 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT75: view

Pathways by source for KRT75 Gene

2 Reactome pathways for KRT75 Gene

Gene Ontology (GO) - Biological Process for KRT75 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT75: view

No data available for SIGNOR curated interactions for KRT75 Gene

Drugs & Compounds for KRT75 Gene

No Compound Related Data Available

Transcripts for KRT75 Gene

mRNA/cDNA for KRT75 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT75

Alternative Splicing Database (ASD) splice patterns (SP) for KRT75 Gene

No ASD Table

Relevant External Links for KRT75 Gene

GeneLoc Exon Structure for
KRT75
ECgene alternative splicing isoforms for
KRT75

Expression for KRT75 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT75 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT75 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x36.6) and Skin - Sun Exposed (Lower leg) (x14.2).

Protein differential expression in normal tissues from HIPED for KRT75 Gene

This gene is overexpressed in Skin (17.8), Brain (10.0), Hair follicle (9.7), Heart (7.9), and Bone marrow mesenchymal stem cell (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT75 Gene



NURSA nuclear receptor signaling pathways regulating expression of KRT75 Gene:

KRT75

SOURCE GeneReport for Unigene cluster for KRT75 Gene:

Hs.697046

mRNA Expression by UniProt/SwissProt for KRT75 Gene:

O95678-K2C75_HUMAN
Tissue specificity: Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companion layer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath (ORS) cells and the inner root sheath (IRS) that stretches from the lowermost bulb region to the isthmus of the follicle. Also expressed in medullated hairs. In nails, it is almost exclusively present in the nail bed (at protein level).

Evidence on tissue expression from TISSUES for KRT75 Gene

  • Skin(4.5)
  • Lung(2.4)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with KRT75: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT75 Gene

Orthologs for KRT75 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT75 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT75 32
  • 99.03 (n)
dog
(Canis familiaris)
Mammalia KRT75 33 32
  • 85.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KRT75 33 32
  • 85.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Krt75 17 33 32
  • 83.64 (n)
rat
(Rattus norvegicus)
Mammalia Krt75 32
  • 83.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KRT75 33
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 74 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KRT6A 33 32
  • 69.76 (n)
ManyToMany
KRT75 33
  • 64 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 63 (a)
OneToMany
Species where no ortholog for KRT75 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)
  • 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 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 KRT75 Gene

ENSEMBL:
Gene Tree for KRT75 (if available)
TreeFam:
Gene Tree for KRT75 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT75: view image

Paralogs for KRT75 Gene

Pseudogenes.org Pseudogenes for KRT75 Gene

genes like me logo Genes that share paralogs with KRT75: view

Variants for KRT75 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KRT75 Gene

K2C75_HUMAN-O95678
The Thr-161 variant may increase risk to develop pseudofolliculitis barbae (PFB) [MIM:612318]. PFB is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males.

Sequence variations from dbSNP and Humsavar for KRT75 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs2232387 risk-factor, not-provided, Pseudofolliculitis barbae, susceptibility to, not provided, - 52,433,824(-) C/T coding_sequence_variant, missense_variant
rs2232398 Loose anagen hair syndrome (LAHS) [MIM:600628] 52,430,567(-) C/T coding_sequence_variant, missense_variant
rs1000146485 -- 52,433,219(-) C/T coding_sequence_variant, missense_variant
rs1000210807 -- 52,431,973(-) A/G intron_variant
rs1000218797 -- 52,434,234(-) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for KRT75 Gene

Variant ID Type Subtype PubMed ID
dgv1504n100 CNV gain 25217958
esv1925677 CNV deletion 18987734
nsv520797 CNV gain 19592680
nsv558928 CNV loss 21841781
nsv832410 CNV gain 17160897
nsv832411 CNV loss 17160897
nsv832412 CNV loss 17160897
nsv975490 CNV duplication 23825009
nsv976620 CNV duplication 23825009

Variation tolerance for KRT75 Gene

Residual Variation Intolerance Score: 98.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.83; 95.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT75 Gene

Human Gene Mutation Database (HGMD)
KRT75
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT75

SNP Genotyping and Copy Number Assay Products

Disorders for KRT75 Gene

MalaCards: The human disease database

(10) MalaCards diseases for KRT75 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pseudofolliculitis barbae
  • pfb
loose anagen hair syndrome
  • loose anagen syndrome
pilocytic astrocytoma of cerebellum
  • cerebellar pilocytic astrocytoma
central centrifugal cicatricial alopecia
  • ccca
cerebellar astrocytoma
  • astrocytoma of cerebellum
- elite association - COSMIC cancer census association via MalaCards
Search KRT75 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K2C75_HUMAN
  • Loose anagen hair syndrome (LAHS) [MIM:600628]: In LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage. {ECO:0000269 PubMed:11939812}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KRT75

genes like me logo Genes that share disorders with KRT75: view

No data available for Genatlas for KRT75 Gene

Publications for KRT75 Gene

  1. A novel human type II cytokeratin, K6hf, specifically expressed in the companion layer of the hair follicle. (PMID: 9856802) Winter H … Schweizer J (The Journal of investigative dermatology 1998) 2 3 4 23 56
  2. Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study. (PMID: 11939812) Chapalain V … Taïeb A (Archives of dermatology 2002) 3 4 23 56
  3. Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain. (PMID: 10692104) Rogers MA … Schweizer J (The Journal of investigative dermatology 2000) 2 3 4 56
  4. Cytokeratin 75 expression in central, centrifugal, cicatricial alopecia--new observations in normal and diseased hair follicles. (PMID: 19614992) Sperling LC … Darling T (Journal of cutaneous pathology 2010) 3 23 56
  5. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3 56

Products for KRT75 Gene

Sources for KRT75 Gene