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UniProtKB - P35908 (K22E_HUMAN)

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Protein

Keratin, type II cytoskeletal 2 epidermal

Gene

KRT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probably contributes to terminal cornification (PubMed:1380918). Associated with keratinocyte activation, proliferation and keratinization (PubMed:12598329). Plays a role in the establishment of the epidermal barrier on plantar skin (By similarity).By similarity2 Publications

Miscellaneous

There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei429Stutter1

GO - Molecular functioni

  • cytoskeletal protein binding Source: Ensembl
  • structural constituent of cytoskeleton Source: ProtInc
  • structural constituent of epidermis Source: CAFA
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cornification Source: Reactome
  • epidermis development Source: ProtInc
  • intermediate filament organization Source: Ensembl
  • keratinization Source: UniProtKB
  • keratinocyte activation Source: UniProtKB
  • keratinocyte development Source: Ensembl
  • keratinocyte migration Source: UniProtKB
  • keratinocyte proliferation Source: UniProtKB
  • peptide cross-linking Source: CAFA
  • positive regulation of epidermis development Source: UniProtKB
View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cytoskeletal 2 epidermal
Alternative name(s):
Cytokeratin-2e
Short name:
CK-2e
Epithelial keratin-2e
Keratin-2 epidermis
Keratin-2e
Short name:
K2e
Type-II keratin Kb2
Gene namesi
Name:KRT2
Synonyms:KRT2A, KRT2E
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000172867.3
HGNCiHGNC:6439 KRT2
MIMi600194 gene
neXtProtiNX_P35908

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Ichthyosis bullosa of Siemens (IBS)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints.
See also OMIM:146800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003865181Q → P in IBS. 1 PublicationCorresponds to variant dbSNP:rs57510142EnsemblClinVar.1
Natural variantiVAR_010514182I → N in IBS. 1 PublicationCorresponds to variant dbSNP:rs61622714EnsemblClinVar.1
Natural variantiVAR_010515186N → D in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852631EnsemblClinVar.1
Natural variantiVAR_017829186N → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852632EnsemblClinVar.1
Natural variantiVAR_009185186N → Y in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852631EnsemblClinVar.1
Natural variantiVAR_031082465E → D in IBS. 1 Publication1
Natural variantiVAR_031083465E → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs758760389Ensembl.1
Natural variantiVAR_009186476E → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs56829062EnsemblClinVar.1
Natural variantiVAR_031084476E → V in IBS. 1 PublicationCorresponds to variant dbSNP:rs60537449EnsemblClinVar.1
Natural variantiVAR_031085477I → N in IBS. 1 Publication1
Natural variantiVAR_009187479T → P in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852630EnsemblClinVar.1
Natural variantiVAR_010516484L → P in IBS. 2 PublicationsCorresponds to variant dbSNP:rs61726451EnsemblClinVar.1
Natural variantiVAR_003866487E → D in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852628EnsemblClinVar.1
Natural variantiVAR_003867487E → K in IBS. 7 PublicationsCorresponds to variant dbSNP:rs137852629EnsemblClinVar.1
Natural variantiVAR_031086488E → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726452EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi3849
MalaCardsiKRT2
MIMi146800 phenotype
OpenTargetsiENSG00000172867
Orphaneti455 Superficial epidermolytic ichthyosis
PharmGKBiPA30227

Polymorphism and mutation databases

BioMutaiKRT2
DMDMi239938650

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000637151 – 639Keratin, type II cytoskeletal 2 epidermalAdd BLAST639

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12Omega-N-methylarginineBy similarity1
Modified residuei20Asymmetric dimethylarginineBy similarity1
Modified residuei23PhosphoserineBy similarity1
Modified residuei26PhosphoserineBy similarity1
Modified residuei62PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiP35908
PaxDbiP35908
PeptideAtlasiP35908
PRIDEiP35908
ProteomicsDBi12657
55161

PTM databases

iPTMnetiP35908
PhosphoSitePlusiP35908
SwissPalmiP35908

Expressioni

Tissue specificityi

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 carcinomas. Expression in hypertrophic and keloid scars begins in the deepest suprabasal layer. Weakly expressed in normal gingiva and tongue, however expression is induced in benign keratoses of lingual mucosa and in mild-to-moderate oral dysplasia with orthokeratinization.3 Publications

Developmental stagei

Synthesized during maturation of epidermal keratinocytes and localized in the upper intermediate cells of fetal skin. Earliest expression is at 10 weeks in the developing embryo in the presumptive nail bed of developing digits, shifting to the proximal nail fold by 13.5 weeks. At 12.5 weeks, detected in scattered cells of the intermediate layer of trunk skin. At 19.3 weeks, regional expression patterns were observed in upper intermediate keratinocytes of cheek, trunk, dorsal and ventral knee, elbow and dorsal hand. Distal areas around the periumbilical region showed increased number of positive cells and by 15 weeks is expressed in small groups of cells in the fetal hair follicles.2 Publications

Gene expression databases

BgeeiENSG00000172867
CleanExiHS_KRT2
GenevisibleiP35908 HS

Organism-specific databases

HPAiCAB037321
HPA006299

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins. Associates with KRT10 (By similarity).By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi110047, 59 interactors
IntActiP35908, 23 interactors
STRINGi9606.ENSP00000310861

Structurei

3D structure databases

ProteinModelPortaliP35908
SMRiP35908
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini178 – 491IF rodPROSITE-ProRule annotationAdd BLAST314

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 177HeadAdd BLAST177
Regioni178 – 213Coil 1AAdd BLAST36
Regioni214 – 232Linker 1Add BLAST19
Regioni233 – 324Coil 1BAdd BLAST92
Regioni325 – 348Linker 12Add BLAST24
Regioni349 – 487Coil 2Add BLAST139
Regioni488 – 639TailAdd BLAST152

Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJPR Eukaryota
ENOG410XWGZ LUCA
GeneTreeiENSGT00910000144006
HOGENOMiHOG000230976
HOVERGENiHBG013015
InParanoidiP35908
KOiK07605
OMAiGEHAIKD
OrthoDBiEOG091G09KR
PhylomeDBiP35908
TreeFamiTF317854

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR032444 Keratin_2_head
IPR003054 Keratin_II
PANTHERiPTHR23239 PTHR23239, 3 hits
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PF16208 Keratin_2_head, 1 hit
PRINTSiPR01276 TYPE2KERATIN
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

Sequencei

Sequence statusi: Complete.

P35908-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSCQISCKSR GRGGGGGGFR GFSSGSAVVS GGSRRSTSSF SCLSRHGGGG 
        60         70         80         90        100
GGFGGGGFGS RSLVGLGGTK SISISVAGGG GGFGAAGGFG GRGGGFGGGS 
       110        120        130        140        150
SFGGGSGFSG GGFGGGGFGG GRFGGFGGPG GVGGLGGPGG FGPGGYPGGI 
       160        170        180        190        200
HEVSVNQSLL QPLNVKVDPE IQNVKAQERE QIKTLNNKFA SFIDKVRFLE 
       210        220        230        240        250
QQNQVLQTKW ELLQQMNVGT RPINLEPIFQ GYIDSLKRYL DGLTAERTSQ 
       260        270        280        290        300
NSELNNMQDL VEDYKKKYED EINKRTAAEN DFVTLKKDVD NAYMIKVELQ 
       310        320        330        340        350
SKVDLLNQEI EFLKVLYDAE ISQIHQSVTD TNVILSMDNS RNLDLDSIIA 
       360        370        380        390        400
EVKAQYEEIA QRSKEEAEAL YHSKYEELQV TVGRHGDSLK EIKIEISELN 
       410        420        430        440        450
RVIQRLQGEI AHVKKQCKNV QDAIADAEQR GEHALKDARN KLNDLEEALQ 
       460        470        480        490        500
QAKEDLARLL RDYQELMNVK LALDVEIATY RKLLEGEECR MSGDLSSNVT 
       510        520        530        540        550
VSVTSSTISS NVASKAAFGG SGGRGSSSGG GYSSGSSSYG SGGRQSGSRG 
       560        570        580        590        600
GSGGGGSISG GGYGSGGGSG GRYGSGGGSK GGSISGGGYG SGGGKHSSGG 
       610        620        630 
GSRGGSSSGG GYGSGGGGSS SVKGSSGEAF GSSVTFSFR
Length:639
Mass (Da):65,433
Last modified:June 16, 2009 - v2
Checksum:iB80526BAF70078A7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti108F → FGGGSGF in AAC83410 (PubMed:1380918).Curated1
Sequence conflicti108F → FGGGSGF in AAB81946 (PubMed:9804344).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058293101S → G2 PublicationsCorresponds to variant dbSNP:rs2634041EnsemblClinVar.1
Natural variantiVAR_003865181Q → P in IBS. 1 PublicationCorresponds to variant dbSNP:rs57510142EnsemblClinVar.1
Natural variantiVAR_010514182I → N in IBS. 1 PublicationCorresponds to variant dbSNP:rs61622714EnsemblClinVar.1
Natural variantiVAR_010515186N → D in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852631EnsemblClinVar.1
Natural variantiVAR_017829186N → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852632EnsemblClinVar.1
Natural variantiVAR_009185186N → Y in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852631EnsemblClinVar.1
Natural variantiVAR_058294219G → D. Corresponds to variant dbSNP:rs638043EnsemblClinVar.1
Natural variantiVAR_031082465E → D in IBS. 1 Publication1
Natural variantiVAR_031083465E → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs758760389Ensembl.1
Natural variantiVAR_009186476E → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs56829062EnsemblClinVar.1
Natural variantiVAR_031084476E → V in IBS. 1 PublicationCorresponds to variant dbSNP:rs60537449EnsemblClinVar.1
Natural variantiVAR_031085477I → N in IBS. 1 Publication1
Natural variantiVAR_009187479T → P in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852630EnsemblClinVar.1
Natural variantiVAR_010516484L → P in IBS. 2 PublicationsCorresponds to variant dbSNP:rs61726451EnsemblClinVar.1
Natural variantiVAR_003866487E → D in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852628EnsemblClinVar.1
Natural variantiVAR_003867487E → K in IBS. 7 PublicationsCorresponds to variant dbSNP:rs137852629EnsemblClinVar.1
Natural variantiVAR_031086488E → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726452EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M99061 mRNA Translation: AAC83410.1
AF019084 Genomic DNA Translation: AAB81946.1
AC055715 Genomic DNA No translation available.
AC055716 Genomic DNA No translation available.
BC096294 mRNA Translation: AAH96294.1
BC099643 mRNA Translation: AAH99643.1
BC099644 mRNA Translation: AAH99644.1
CCDSiCCDS8835.1
PIRiA44861
RefSeqiNP_000414.2, NM_000423.2
UniGeneiHs.707

Genome annotation databases

EnsembliENST00000309680; ENSP00000310861; ENSG00000172867
GeneIDi3849
KEGGihsa:3849
UCSCiuc001sat.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiK22E_HUMAN
AccessioniPrimary (citable) accession number: P35908
Secondary accession number(s): Q4VAQ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 16, 2009
Last modified: July 18, 2018
This is version 171 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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