Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KRT72 Gene

Aliases for KRT72 Gene

  • Keratin 72 2 3 5
  • Type II Inner Root Sheath-Specific Keratin-K6irs2 3 4
  • Type-II Keratin Kb35 3 4
  • Keratin 72, Type II 2 3
  • Cytokeratin-72 3 4
  • KRT6IRS2 3 4
  • K6IRS2 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 4
  • K6irs 3
  • KB35 4

External Ids for KRT72 Gene

Previous GeneCards Identifiers for KRT72 Gene

  • GC12M051266
  • GC12M052979
  • GC12M050023

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) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT71.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT72 Gene

Genomics for KRT72 Gene

Regulatory Elements for KRT72 Gene

Enhancers for KRT72 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G052579 1.3 FANTOM5 ENCODE 34.4 +21.5 21499 3.7 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B TCF12 ZNF207 FOS DEK KRT72 KRT1 KRT71 KRT78 KRT79 KRT2 KRT84 KRT4 KRT6C KRT76
GH12G052630 0.7 ENCODE dbSUPER 39.9 -27.9 -27916 0.4 ZNF707 GATA3 HLF KRT72 KRT73 LOC105369772
GH12G052633 0.7 ENCODE dbSUPER 38.4 -30.6 -30598 0.2 ZNF362 MAX KRT72 KRT128P LOC105369772
GH12G052609 1 ENCODE dbSUPER 25.9 -7.2 -7230 1.9 CTCF PKNOX1 SIN3A ZNF335 ADNP TRIM24 EZH2 RFX1 CEBPB TSHZ1 KRT72 MAP3K12 KRT2 KRT71 KRT78 KRT76 KRT79 KRT73 GC12P052616
GH12G052626 0.6 dbSUPER 39.4 -24.1 -24129 1.6 SIX4 PAF1 MNT ELF1 GABPA GATA3 ZNF766 ZNF701 KLF9 NR2C2 KRT72 HNRNPA3P10 SP1 AAAS LOC100652999 ZNF740 KRT73 ENSG00000257475 LOC105369772
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRT72 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT72 Gene

Chromosome:
12
Start:
52,585,589 bp from pter
End:
52,602,944 bp from pter
Size:
17,356 bases
Orientation:
Minus strand

Genomic View for KRT72 Gene

Genes around KRT72 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT72 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT72 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for KRT72 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KRT72 Gene

Domains & Families for KRT72 Gene

Gene Families for KRT72 Gene

Suggested Antigen Peptide Sequences for KRT72 Gene

Graphical View of Domain Structure for InterPro Entry

Q14CN4

UniProtKB/Swiss-Prot:

K2C72_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
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

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

Animal Model Products

miRNA for KRT72 Gene

miRTarBase miRNAs that target KRT72

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT72 Gene

Localization for KRT72 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 KRT72 gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 3
cytoskeleton 2
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for KRT72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with KRT72: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT72 Gene

Pathways & Interactions for KRT72 Gene

SuperPathways for KRT72 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT72: view

Pathways by source for KRT72 Gene

2 Reactome pathways for KRT72 Gene

Gene Ontology (GO) - Biological Process for KRT72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT72: view

No data available for SIGNOR curated interactions for KRT72 Gene

Drugs & Compounds for KRT72 Gene

No Compound Related Data Available

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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x17.5), Skin - Not Sun Exposed (Suprapubic) (x11.3), Skin - Sun Exposed (Lower leg) (x9.8), and Whole Blood (x8.6).

Protein differential expression in normal tissues from HIPED for KRT72 Gene

This gene is overexpressed in Cervix (25.5), Saliva (14.8), and Bone marrow mesenchymal stem cell (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT72 Gene



NURSA nuclear receptor signaling pathways regulating expression of KRT72 Gene:

KRT72

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).

Evidence on tissue expression from TISSUES for KRT72 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with KRT72: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT72 Gene

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 34 35
  • 98.37 (n)
cow
(Bos Taurus)
Mammalia KRT72 34 35
  • 86.63 (n)
dog
(Canis familiaris)
Mammalia KRT72 34 35
  • 86.3 (n)
rat
(Rattus norvegicus)
Mammalia Krt72 34
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Krt72 34 16 35
  • 82.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 46 (a)
ManyToMany
Species where no ortholog for KRT72 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)
  • 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

Variants for KRT72 Gene

Sequence variations from dbSNP and Humsavar for KRT72 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000149131 -- 52,599,770(+) CTGTG(A/C)CCTCC intron-variant
rs1000193964 -- 52,590,480(+) AGCAG(C/T)GAGCT intron-variant
rs1000458877 -- 52,594,404(+) CACAT(A/C)TACAC intron-variant, upstream-variant-2KB
rs1000712260 -- 52,598,991(+) TCTGC(A/G)GGTTG reference, missense
rs1000713326 -- 52,594,755(+) TAATT(A/T)AAAAA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv428281 CNV gain 18775914
nsv832415 CNV loss 17160897
nsv976621 CNV duplication 23825009

Variation tolerance for KRT72 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.57; 99.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT72 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT72

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT72 Gene

Disorders for KRT72 Gene

Relevant External Links for KRT72

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT72

No disorders were found for KRT72 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 22 64
  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 64
  3. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J. … Wright M.W. (J. Cell Biol. 2006) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The unique luminal staining pattern of cytokeratin 5/6 in adenoid cystic carcinoma of the breast may aid in differentiating it from its mimickers. (PMID: 27240462) Nakai T. … Ohbayashi C. (Virchows Arch. 2016) 3 64

Products for KRT72 Gene

Sources for KRT72 Gene

Content
Loading form....