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Protein

Keratin, type II cytoskeletal 2 epidermal

Gene

KRT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization.2 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

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
  • skin epidermis development Source: CAFA

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:6439. KRT2.

Subcellular locationi

GO - Cellular componenti

  • cornified envelope Source: CAFA
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • intermediate filament Source: ProtInc
  • keratin filament Source: Ensembl
  • membrane Source: UniProtKB
  • nucleus Source: UniProtKB

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:rs57510142Ensembl.1
Natural variantiVAR_010514182I → N in IBS. 1 PublicationCorresponds to variant dbSNP:rs61622714Ensembl.1
Natural variantiVAR_010515186N → D in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852631Ensembl.1
Natural variantiVAR_017829186N → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726457Ensembl.1
Natural variantiVAR_009185186N → Y in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726454Ensembl.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:rs56829062Ensembl.1
Natural variantiVAR_031084476E → V in IBS. 1 PublicationCorresponds to variant dbSNP:rs60537449Ensembl.1
Natural variantiVAR_031085477I → N in IBS. 1 Publication1
Natural variantiVAR_009187479T → P in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726453Ensembl.1
Natural variantiVAR_010516484L → P in IBS. 2 PublicationsCorresponds to variant dbSNP:rs61726451Ensembl.1
Natural variantiVAR_003866487E → D in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726450Ensembl.1
Natural variantiVAR_003867487E → K in IBS. 7 PublicationsCorresponds to variant dbSNP:rs61726449Ensembl.1
Natural variantiVAR_031086488E → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726452Ensembl.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.

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

Protein-protein interaction databases

BioGridi110047. 55 interactors.
IntActiP35908. 22 interactors.
MINTiMINT-1208580.
STRINGi9606.ENSP00000310861.

Structurei

3D structure databases

ProteinModelPortaliP35908.
SMRiP35908.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 177HeadAdd BLAST177
Regioni178 – 487RodAdd BLAST310
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.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJPR. Eukaryota.
ENOG410XWGZ. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP35908.
KOiK07605.
OMAiGEHAIKD.
OrthoDBiEOG091G09KR.
PhylomeDBiP35908.
TreeFamiTF317854.

Family and domain databases

InterProiView protein in InterPro
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
PANTHERiPTHR23239. PTHR23239. 1 hit.
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. 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:rs2634041Ensembl.1
Natural variantiVAR_003865181Q → P in IBS. 1 PublicationCorresponds to variant dbSNP:rs57510142Ensembl.1
Natural variantiVAR_010514182I → N in IBS. 1 PublicationCorresponds to variant dbSNP:rs61622714Ensembl.1
Natural variantiVAR_010515186N → D in IBS. 1 PublicationCorresponds to variant dbSNP:rs137852631Ensembl.1
Natural variantiVAR_017829186N → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726457Ensembl.1
Natural variantiVAR_009185186N → Y in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726454Ensembl.1
Natural variantiVAR_058294219G → D. Corresponds to variant dbSNP:rs638043Ensembl.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:rs56829062Ensembl.1
Natural variantiVAR_031084476E → V in IBS. 1 PublicationCorresponds to variant dbSNP:rs60537449Ensembl.1
Natural variantiVAR_031085477I → N in IBS. 1 Publication1
Natural variantiVAR_009187479T → P in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726453Ensembl.1
Natural variantiVAR_010516484L → P in IBS. 2 PublicationsCorresponds to variant dbSNP:rs61726451Ensembl.1
Natural variantiVAR_003866487E → D in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726450Ensembl.1
Natural variantiVAR_003867487E → K in IBS. 7 PublicationsCorresponds to variant dbSNP:rs61726449Ensembl.1
Natural variantiVAR_031086488E → K in IBS. 1 PublicationCorresponds to variant dbSNP:rs61726452Ensembl.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

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database
Wikipedia

Keratin-2A entry

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.

3D structure databases

ProteinModelPortaliP35908.
SMRiP35908.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110047. 55 interactors.
IntActiP35908. 22 interactors.
MINTiMINT-1208580.
STRINGi9606.ENSP00000310861.

PTM databases

iPTMnetiP35908.
PhosphoSitePlusiP35908.
SwissPalmiP35908.

Polymorphism and mutation databases

BioMutaiKRT2.
DMDMi239938650.

Proteomic databases

EPDiP35908.
PaxDbiP35908.
PeptideAtlasiP35908.
PRIDEiP35908.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi3849.
DisGeNETi3849.
GeneCardsiKRT2.
H-InvDBiHIX0036877.
HGNCiHGNC:6439. KRT2.
HPAiCAB037321.
HPA006299.
MalaCardsiKRT2.
MIMi146800. phenotype.
600194. gene.
neXtProtiNX_P35908.
OpenTargetsiENSG00000172867.
Orphaneti455. Superficial epidermolytic ichthyosis.
PharmGKBiPA30227.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJPR. Eukaryota.
ENOG410XWGZ. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP35908.
KOiK07605.
OMAiGEHAIKD.
OrthoDBiEOG091G09KR.
PhylomeDBiP35908.
TreeFamiTF317854.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiKeratin_2A.
GenomeRNAii3849.
PROiPR:P35908.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172867.
CleanExiHS_KRT2.
GenevisibleiP35908. HS.

Family and domain databases

InterProiView protein in InterPro
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
PANTHERiPTHR23239. PTHR23239. 1 hit.
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. 1 hit.
ProtoNetiSearch...

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: June 7, 2017
This is version 162 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.