• Gene id: 3849

Gene Summary

• Gene Symbol: KRT2   Gene   UCSC   Ensembl
• Aliases: CK-2e, K2e, KRT2A, KRT2E, KRTE
• Gene name: keratin 2
• Alternate names: keratin, type II cytoskeletal 2 epidermal, cytokeratin-2e, epithelial keratin-2e, keratin 2, type II, keratin-2 epidermis, keratin-2e, type-II keratin Kb2,
• Gene location: 12q13.13 (52652210: 52644557)     Exons: 9     NC_000012.12
• Gene summary(Entrez): 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 ep
• OMIM: 148059

Protein Summary

• Protein general information: P35908  
  • Name: Keratin, type II cytoskeletal 2 epidermal (Cytokeratin 2e) (CK 2e) (Epithelial keratin 2e) (Keratin 2 epidermis) (Keratin 2e) (K2e) (Type II keratin Kb2)
  • Length: 639  
  • Mass: 65433
  • Tissue specificity: Expressed in the upper spinous and granular suprabasal layers of normal adult epidermal tissues from most body sites including thigh, breast nipple, foot sole, penile shaft and axilla. Not present in foreskin, squamous metaplasias and
• Sequence:

  MSCQISCKSRGRGGGGGGFRGFSSGSAVVSGGSRRSTSSFSCLSRHGGGGGGFGGGGFGSRSLVGLGGTKSISIS
  VAGGGGGFGAAGGFGGRGGGFGGGSSFGGGSGFSGGGFGGGGFGGGRFGGFGGPGGVGGLGGPGGFGPGGYPGGI
  HEVSVNQSLLQPLNVKVDPEIQNVKAQEREQIKTLNNKFASFIDKVRFLEQQNQVLQTKWELLQQMNVGTRPINL
  EPIFQGYIDSLKRYLDGLTAERTSQNSELNNMQDLVEDYKKKYEDEINKRTAAENDFVTLKKDVDNAYMIKVELQ
  SKVDLLNQEIEFLKVLYDAEISQIHQSVTDTNVILSMDNSRNLDLDSIIAEVKAQYEEIAQRSKEEAEALYHSKY
  EELQVTVGRHGDSLKEIKIEISELNRVIQRLQGEIAHVKKQCKNVQDAIADAEQRGEHALKDARNKLNDLEEALQ
  QAKEDLARLLRDYQELMNVKLALDVEIATYRKLLEGEECRMSGDLSSNVTVSVTSSTISSNVASKAAFGGSGGRG
  SSSGGGYSSGSSSYGSGGRQSGSRGGSGGGGSISGGGYGSGGGSGGRYGSGGGSKGGSISGGGYGSGGGKHSSGG
  GSRGGSSSGGGYGSGGGGSSSVKGSSGEAFGSSVTFSFR

• Structural information:
  • Protein Domains: (178..49-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"-)
  • Interpro: IPR018039  IPR039008  IPR042180  IPR032444  IPR003054  
  • Prosite: PS00226 PS51842
  • STRING: ENSP00000310861
• Other Databases: GeneCards:  KRT2  Malacards:  KRT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045684	positive regulation of epidermis development	ISS	biological process
GO:0045095	keratin filament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005882	intermediate filament	TAS	cellular component
GO:0008544	epidermis development	TAS	biological process
GO:0031424	keratinization	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0008544	epidermis development	IEA	biological process
GO:0030280	structural constituent of skin epidermis	IEA	molecular function
GO:0045109	intermediate filament organization	IEA	biological process
GO:0003334	keratinocyte development	IEA	biological process
GO:0045095	keratin filament	IEA	cellular component
GO:0045684	positive regulation of epidermis development	IEA	biological process
GO:0001533	cornified envelope	IDA	cellular component
GO:0030280	structural constituent of skin epidermis	IDA	molecular function
GO:0018149	peptide cross-linking	IDA	biological process
GO:0043616	keratinocyte proliferation	IDA	biological process
GO:0032980	keratinocyte activation	IDA	biological process
GO:0051546	keratinocyte migration	IDA	biological process
GO:0031424	keratinization	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Ichthyosis bullosa of Siemens	KEGG:H00693
Ichthyosis bullosa of Siemens	KEGG:H00693
Ichthyosis	PMID:7524919
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq