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KRT2 keratin 2 [ Homo sapiens (human) ]

Gene ID: 3849, updated on 5-May-2019

Summary

Official Symbol
KRT2provided by HGNC
Official Full Name
keratin 2provided by HGNC
Primary source
HGNC:HGNC:6439
See related
Ensembl:ENSG00000172867 MIM:600194
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
K2e; KRTE; CK-2e; KRT2A; KRT2E
Summary
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins 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 type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward skin (RPKM 1015.4) See more
Orthologs

Genomic context

See KRT2 in Genome Data Viewer
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (52644558..52652175, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53038342..53045959, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369772 Neighboring gene keratin 128 pseudogene Neighboring gene keratin 1 Neighboring gene keratin 77

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC116967, MGC116968

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
structural constituent of epidermis IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
intermediate filament organization IEA
Inferred from Electronic Annotation
more info
 
keratinization IDA
Inferred from Direct Assay
more info
PubMed 
keratinization TAS
Traceable Author Statement
more info
 
keratinocyte activation IDA
Inferred from Direct Assay
more info
PubMed 
keratinocyte development IEA
Inferred from Electronic Annotation
more info
 
keratinocyte migration IDA
Inferred from Direct Assay
more info
PubMed 
keratinocyte proliferation IDA
Inferred from Direct Assay
more info
PubMed 
peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epidermis development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 
intermediate filament TAS
Traceable Author Statement
more info
PubMed 
keratin filament IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nucleus HDA PubMed 

General protein information

Preferred Names
keratin, type II cytoskeletal 2 epidermal
Names
cytokeratin-2e
epithelial keratin-2e
keratin 2, type II
keratin-2 epidermis
keratin-2e
type-II keratin Kb2

NCBI Reference Sequences (RefSeq)

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_008296.1 RefSeqGene

    Range
    5001..12618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000423.3NP_000414.2  keratin, type II cytoskeletal 2 epidermal

    See identical proteins and their annotated locations for NP_000414.2

    Status: VALIDATED

    Source sequence(s)
    AC055716, AL598277, BC096294, M99061
    Consensus CDS
    CCDS8835.1
    UniProtKB/Swiss-Prot
    P35908
    Related
    ENSP00000310861.3, ENST00000309680.4
    Conserved Domains (2) summary
    pfam00038
    Location:177490
    Filament; Intermediate filament protein
    pfam16208
    Location:150174
    Keratin_2_head; Keratin type II head

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    52644558..52652175 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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