U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

KRT72 keratin 72 [ Homo sapiens (human) ]

Gene ID: 140807, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
KRT72provided by HGNC
Official Full Name
keratin 72provided by HGNC
Primary source
HGNC:HGNC:28932
See related
Ensembl:ENSG00000170486 MIM:608246; AllianceGenome:HGNC:28932
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
K72; KRT6; CK-72; K6irs; K6IRS2; KRT6IRS2
Summary
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]
Expression
Biased expression in testis (RPKM 10.2), skin (RPKM 2.1) and 3 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
12q13.13
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52585589..52602953, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52550180..52567550, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52979373..52995247, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941449-52941950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941951-52942450 Neighboring gene keratin 71 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29072 Neighboring gene keratin 74 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29100 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29110 Neighboring gene KRT73 antisense RNA 1 Neighboring gene keratin 73 Neighboring gene keratin 128, pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. The unique luminal staining pattern of cytokeratin 5/6 in adenoid cystic carcinoma of the breast may aid in differentiating it from its mimickers. Nakai T, et al. Virchows Arch, 2016 Aug. PMID 27240462
  2. Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans. Porter RM, et al. Br J Dermatol, 2001 Oct. PMID 11703281
  3. Ozone therapy promotes the differentiation of basal keratinocytes via increasing Tp63-mediated transcription of KRT10 to improve psoriasis. Gao L, et al. J Cell Mol Med, 2020 Apr. PMID 32168425, Free PMC Article
  4. Comparison of immunohistochemical staining in breast papillary neoplasms of cytokeratin 5/6 and p63 in core needle biopsies and surgical excisions. Koo JS, et al. Appl Immunohistochem Mol Morphol, 2012 Mar. PMID 22553810
  5. K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. Langbein L, et al. J Invest Dermatol, 2003 Apr. PMID 12648212

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ozone therapy promotes the differentiation of basal keratinocytes via increasing Tp63-mediated transcription of KRT10 to improve psoriasis.
    Title: Ozone therapy promotes the differentiation of basal keratinocytes via increasing Tp63-mediated transcription of KRT10 to improve psoriasis.
  2. the luminal cells of adenoid cystic carcinoma show a unique aberrant staining pattern for cytokeratin 5/6 that may aid in the differential diagnosis
    Title: The unique luminal staining pattern of cytokeratin 5/6 in adenoid cystic carcinoma of the breast may aid in differentiating it from its mimickers.
  3. the results of CK5/6 and p63 in CNBs of papillary neoplasms were mostly representative of the final results for CK5/6 and p63 in subsequent surgical excisions, excisional biopsy is required for definitive subtyping
    Title: Comparison of immunohistochemical staining in breast papillary neoplasms of cytokeratin 5/6 and p63 in core needle biopsies and surgical excisions.
  4. we suggest that keratin 5/6 and bcl-2 should not be used to identify benign glands in prostate biopsy
    Title: Reliability of the 34βE12, keratin 5/6, p63, bcl-2, and AMACR in the diagnosis of prostate carcinoma.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC142246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of skin epidermis IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in intermediate filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in keratinization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in keratin filament IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
keratin, type II cytoskeletal 72
Names
cytokeratin-72
keratin 6, inner root sheath, 2
keratin 72, type II
keratin protein K6irs
type II inner root sheath-specific keratin-K6irs2
type-II keratin Kb35

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012427.1 RefSeqGene

    Range
    5076..20950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146225.2 → NP_001139697.1  keratin, type II cytoskeletal 72 isoform 1

    See identical proteins and their annotated locations for NP_001139697.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK093060, AK293645, BC113686, BX089867
    Consensus CDS
    CCDS8833.1
    UniProtKB/Swiss-Prot
    B4DEI8, H9KV51, Q14CN4, Q8NA87, Q8WWY9, Q8WWZ0
    Related
    ENSP00000441160.2, ENST00000537672.6
    Conserved Domains (3) summary
    pfam00038
    Location:124 → 437
    Filament; Intermediate filament protein
    pfam16208
    Location:15 → 121
    Keratin_2_head; Keratin type II head
    cl19219
    Location:233 → 413
    DUF342; Protein of unknown function (DUF342)

  2. NM_001146226.2 → NP_001139698.1  keratin, type II cytoskeletal 72 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing a 42 aa protein segment compared to isoform 1.
    Source sequence(s)
    AK293645, AY033495, BC113686, BX089867
    Consensus CDS
    CCDS53795.1
    UniProtKB/Swiss-Prot
    Q14CN4
    Related
    ENSP00000346269.4, ENST00000354310.4
    Conserved Domains (2) summary
    pfam00038
    Location:124 → 395
    Filament; Intermediate filament protein
    pfam16208
    Location:15 → 121
    Keratin_2_head; Keratin type II head

  3. NM_080747.3 → NP_542785.1  keratin, type II cytoskeletal 72 isoform 1

    See identical proteins and their annotated locations for NP_542785.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK293645, AY033495, BC113686, BX089867
    Consensus CDS
    CCDS8833.1
    UniProtKB/Swiss-Prot
    B4DEI8, H9KV51, Q14CN4, Q8NA87, Q8WWY9, Q8WWZ0
    Related
    ENSP00000293745.2, ENST00000293745.7
    Conserved Domains (3) summary
    pfam00038
    Location:124 → 437
    Filament; Intermediate filament protein
    pfam16208
    Location:15 → 121
    Keratin_2_head; Keratin type II head
    cl19219
    Location:233 → 413
    DUF342; Protein of unknown function (DUF342)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    52585589..52602953 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428323.1 → XP_047284279.1  keratin, type II cytoskeletal 72 isoform X3

  2. XM_047428322.1 → XP_047284278.1  keratin, type II cytoskeletal 72 isoform X2

  3. XM_047428324.1 → XP_047284280.1  keratin, type II cytoskeletal 72 isoform X4

  4. XM_047428321.1 → XP_047284277.1  keratin, type II cytoskeletal 72 isoform X1

  5. XM_047428325.1 → XP_047284281.1  keratin, type II cytoskeletal 72 isoform X5

    UniProtKB/TrEMBL
    B4DXK4

  6. XM_047428326.1 → XP_047284282.1  keratin, type II cytoskeletal 72 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52550180..52567550 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371146.1 → XP_054227121.1  keratin, type II cytoskeletal 72 isoform X3

  2. XM_054371145.1 → XP_054227120.1  keratin, type II cytoskeletal 72 isoform X2

  3. XM_054371147.1 → XP_054227122.1  keratin, type II cytoskeletal 72 isoform X4

  4. XM_054371143.1 → XP_054227118.1  keratin, type II cytoskeletal 72 isoform X7

  5. XM_054371144.1 → XP_054227119.1  keratin, type II cytoskeletal 72 isoform X1

  6. XM_054371148.1 → XP_054227123.1  keratin, type II cytoskeletal 72 isoform X5

  7. XM_054371149.1 → XP_054227124.1  keratin, type II cytoskeletal 72 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14CN4.2 GenPept UniProtKB/Swiss-Prot:Q14CN4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous