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Aliases for KRT72 Gene

Aliases for KRT72 Gene

  • Keratin 72, Type II 2 3
  • KRT6IRS2 3 4 6
  • K6IRS2 3 4 6
  • Type II Inner Root Sheath-Specific Keratin-K6irs2 3 4
  • Type-II Keratin Kb35 3 4
  • Cytokeratin-72 3 4
  • Keratin-72 3 4
  • CK-72 3 4
  • KRT6 3 4
  • K72 3 4
  • Keratin, Type II Cytoskeletal 72 3
  • Keratin 6, Inner Root Sheath, 2 3
  • Keratin Protein K6irs 3
  • Keratin 72 2
  • K6irs 3
  • KB35 4

External Ids for KRT72 Gene

Summaries for KRT72 Gene

Entrez Gene Summary for KRT72 Gene

  • Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]

GeneCards Summary for KRT72 Gene

KRT72 (Keratin 72, Type II) is a Protein Coding gene. Diseases associated with KRT72 include pachyonychia congenita. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT82.

UniProtKB/Swiss-Prot for KRT72 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT72 Gene

Genomics for KRT72 Gene

Genomic Location for KRT72 Gene

Start:
52,585,589 bp from pter
End:
52,601,538 bp from pter
Size:
15,950 bases
Orientation:
Minus strand

Genomic View for KRT72 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRT72 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT72 Gene

Regulatory Elements for KRT72 Gene

Proteins for KRT72 Gene

  • Protein details for KRT72 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14CN4-K2C72_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 72
    Protein Accession:
    Q14CN4
    Secondary Accessions:
    • B4DEI8
    • H9KV51
    • Q8NA87
    • Q8WWY9
    • Q8WWZ0

    Protein attributes for KRT72 Gene

    Size:
    511 amino acids
    Molecular mass:
    55877 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=BAC04039.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KRT72 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KRT72 Gene

Proteomics data for KRT72 Gene at MOPED

Post-translational modifications for KRT72 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys142

Other Protein References for KRT72 Gene

No data available for DME Specific Peptides for KRT72 Gene

Domains for KRT72 Gene

Gene Families for KRT72 Gene

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

Protein Domains for KRT72 Gene

UniProtKB/Swiss-Prot:

K2C72_HUMAN
Family:
  • Belongs to the intermediate filament family.:
    • Q14CN4
genes like me logo Genes that share domains with KRT72: view

Function for KRT72 Gene

Molecular function for KRT72 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).

Gene Ontology (GO) - Molecular Function for KRT72 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 25416956
genes like me logo Genes that share ontologies with KRT72: view

Phenotypes for KRT72 Gene

GenomeRNAi human phenotypes for KRT72:
genes like me logo Genes that share phenotypes with KRT72: view

miRNA for KRT72 Gene

miRTarBase miRNAs that target KRT72

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KRT72 Gene

Localization for KRT72 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT72 Gene COMPARTMENTS Subcellular localization image for KRT72 gene
Compartment Confidence
cytosol 3
mitochondrion 3
cytoskeleton 2
peroxisome 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRT72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament --
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with KRT72: view

Pathways for KRT72 Gene

SuperPathways for KRT72 Gene

No Data Available

Interacting Proteins for KRT72 Gene

Gene Ontology (GO) - Biological Process for KRT72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with KRT72: view

No data available for Pathways by source for KRT72 Gene

Transcripts for KRT72 Gene

mRNA/cDNA for KRT72 Gene

(8) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT72 Gene

Keratin 72:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRT72 Gene

No ASD Table

Relevant External Links for KRT72 Gene

GeneLoc Exon Structure for
KRT72
ECgene alternative splicing isoforms for
KRT72

Expression for KRT72 Gene

mRNA expression in normal human tissues for KRT72 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT72 Gene

This gene is overexpressed in Testis (17.5), Skin - Not Sun Exposed (Suprapubic) (11.3), Skin - Sun Exposed (Lower leg) (9.8), and Whole Blood (8.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KRT72 Gene

SOURCE GeneReport for Unigene cluster for KRT72 Gene Hs.662013

mRNA Expression by UniProt/SwissProt for KRT72 Gene

Q14CN4-K2C72_HUMAN
Tissue specificity: Highly expressed in hair follicles from scalp and eyebrow. Also expressed in palmoplantar epidermis. Not expressed in face skin despite the presence of fine hairs histologically. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS cuticle, but not in Henle or Huxley layers of the IRS. In the IRS cuticle, its presence is delayed up to the height of the apex of the dermal papilla (at protein level).
genes like me logo Genes that share expressions with KRT72: view

Orthologs for KRT72 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT72 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT72 36
  • 98.37 (n)
  • 97.06 (a)
KRT72 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KRT72 36
  • 86.63 (n)
  • 85.13 (a)
KRT72 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT72 36
  • 86.3 (n)
  • 85.32 (a)
KRT72 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt72 36
  • 82.81 (n)
  • 83.14 (a)
Krt72 16
Krt72 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 66 (a)
ManyToMany
-- 37
  • 66 (a)
ManyToMany
-- 37
  • 68 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Krt72 36
  • 83.33 (n)
  • 81.96 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 46 (a)
ManyToMany
Species with no ortholog for KRT72:
  • 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)
  • 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 KRT72 Gene

ENSEMBL:
Gene Tree for KRT72 (if available)
TreeFam:
Gene Tree for KRT72 (if available)

Paralogs for KRT72 Gene

genes like me logo Genes that share paralogs with KRT72: view

Variants for KRT72 Gene

Sequence variations from dbSNP and Humsavar for KRT72 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs584039 -- 52,597,297(-) ACAGT(C/G)TATAT intron-variant
rs586981 -- 52,602,779(-) GGGGA(A/G)CCCAG upstream-variant-2KB
rs589284 -- 52,593,596(+) ggtaa(C/T)gaaat intron-variant
rs595727 -- 52,597,598(-) attgg(A/G)ataat intron-variant
rs600904 -- 52,597,452(-) TTTTA(A/T)CACCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KRT72 Gene

Variant ID Type Subtype PubMed ID
nsv832415 CNV Loss 17160897
nsv428281 CNV Gain 18775914

Relevant External Links for KRT72 Gene

HapMap Linkage Disequilibrium report
KRT72

Disorders for KRT72 Gene

(1) MalaCards Diseases for KRT72 Gene

Search for KRT72 Gene in MalaCards »

(1) University of Copenhagen DISEASES for KRT72 Gene

genes like me logo Genes that share disorders with KRT72: view

No data available for UniProtKB/Swiss-Prot for KRT72 Gene

Publications for KRT72 Gene

  1. Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans. (PMID: 11703281) Porter R.M. … McLean W.H.I. (Br. J. Dermatol. 2001) 2 3 4 23
  2. 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. (J. Invest. Dermatol. 2003) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J. … Wright M.W. (J. Cell Biol. 2006) 2 3
  5. Exquisite sensitivity of TP53 mutant and basal breast cancers to a dose-dense epirubicin-cyclophosphamide regimen. (PMID: 17388661) Bertheau P. … de ThAc H. (PLoS Med. 2007) 3

Products for KRT72 Gene

Sources for KRT72 Gene

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