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Aliases for KRT75 Gene

Aliases for KRT75 Gene

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

External Ids for KRT75 Gene

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, Type II) is a Protein Coding gene. Diseases associated with KRT75 include loose anagen hair syndrome and pseudofolliculitis barbae. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT82.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT75 Gene

Genomics for KRT75 Gene

Genomic Location for KRT75 Gene

Start:
52,424,070 bp from pter
End:
52,434,525 bp from pter
Size:
10,456 bases
Orientation:
Minus strand

Genomic View for KRT75 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRT75 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT75 Gene

Regulatory Elements 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

Proteomics data for KRT75 Gene at MOPED

Post-translational modifications for KRT75 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys159 and Lys166

Other Protein References for KRT75 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT75 Gene

Domains for KRT75 Gene

Gene Families for KRT75 Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

UniProtKB/Swiss-Prot:

K2C75_HUMAN
Family:
  • Belongs to the intermediate filament family.:
    • O95678
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

Gene Ontology (GO) - Molecular Function for KRT75 Gene

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

Phenotypes for KRT75 Gene

MGI mutant phenotypes for KRT75:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with KRT75: view

miRNA for KRT75 Gene

miRTarBase miRNAs that target KRT75

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KRT75 Gene

Localization for KRT75 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT75 Gene COMPARTMENTS Subcellular localization image for KRT75 gene
Compartment Confidence
cytosol 3
mitochondrion 3
cytoskeleton 2
nucleus 1

Gene Ontology (GO) - Cellular Components for KRT75 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005882 intermediate filament IDA 15086549
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with KRT75: view

Pathways for KRT75 Gene

SuperPathways for KRT75 Gene

No Data Available

Interacting Proteins 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 --
genes like me logo Genes that share ontologies with KRT75: view

No data available for Pathways by source for KRT75 Gene

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 where relevant :

Unigene Clusters for KRT75 Gene

Keratin 75:
Representative Sequences:

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 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) (36.6) and Skin - Sun Exposed (Lower leg) (14.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KRT75 Gene

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).
genes like me logo Genes that share expressions with KRT75: view

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 36
  • 99.03 (n)
  • 98.91 (a)
cow
(Bos Taurus)
Mammalia KRT75 36
  • 85.21 (n)
  • 84.53 (a)
KRT75 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT75 36
  • 85.24 (n)
  • 86.03 (a)
KRT75 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt75 36
  • 83.64 (n)
  • 85.09 (a)
Krt75 16
Krt75 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 74 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KRT75 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krt75 36
  • 83.36 (n)
  • 84.1 (a)
chicken
(Gallus gallus)
Aves KRT6A 36
  • 69.76 (n)
  • 68.47 (a)
KRT6A 37
  • 67 (a)
ManyToMany
KRT75 37
  • 64 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 63 (a)
OneToMany
Species with no ortholog for KRT75:
  • 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)

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

O95678-K2C75_HUMAN
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 Sequence Context AA Info Type MAF
rs67876 -- 52,433,750(-) GGAAG(A/G)GCCAT intron-variant
rs182436 -- 52,435,227(+) AGGCT(C/T)CCCTC upstream-variant-2KB
rs188462 -- 52,424,286(+) GCCTT(A/G)GGAGA utr-variant-3-prime
rs298104 - 52,424,720(-) ATGGA(A/C)GCGGC reference, missense
rs298109 - 52,434,034(-) GCAAC(A/G)GGTTT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv832410 CNV Gain 17160897
nsv832411 CNV Loss 17160897
nsv832412 CNV Loss 17160897
nsv520797 CNV Gain 19592680
esv1925677 CNV Deletion 18987734

Relevant External Links for KRT75 Gene

HapMap Linkage Disequilibrium report
KRT75
Human Gene Mutation Database (HGMD)
KRT75

Disorders for KRT75 Gene

(1) OMIM Diseases for KRT75 Gene (609025)

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.

(1) Novoseek inferred disease relationships for KRT75 Gene

Disease -log(P) Hits PubMed IDs
tumors 0 2
genes like me logo Genes that share disorders with KRT75: view

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. (J. Invest. Dermatol. 1998) 2 3 4 23
  2. Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study. (PMID: 11939812) Chapalain V. … Taieb A. (Arch. Dermatol. 2002) 3 4 23
  3. Characterization of a 300 kbp region of human DNA containing the type II hair keratin. (PMID: 10692104) Rogers M.A. … Schweizer J. (J. Invest. Dermatol. 2000) 2 3 4
  4. An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae. (PMID: 15086549) Winter H. … Schweizer J. (J. Invest. Dermatol. 2004) 3 4
  5. Dermal papilla-induced hair differentiation of adult epithelial stem cells from human skin. (PMID: 15292489) Roh C. … Lyle S. (Physiol. Genomics 2004) 3 4

Products for KRT75 Gene

Sources for KRT75 Gene

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