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P35908

- K22E_HUMAN

UniProt

P35908 - K22E_HUMAN

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Protein

Keratin, type II cytoskeletal 2 epidermal

Gene
KRT2, KRT2A, KRT2E
Organism
Homo sapiens (Human)
Status
Reviewed - 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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei429 – 4291Stutter

GO - Molecular functioni

  1. structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

  1. epidermis development Source: ProtInc
  2. keratinization Source: UniProtKB
  3. keratinocyte activation Source: UniProtKB
  4. keratinocyte migration Source: UniProtKB
  5. keratinocyte proliferation Source: UniProtKB
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:6439. KRT2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. extracellular space Source: UniProt
  3. extracellular vesicular exosome Source: UniProt
  4. Golgi apparatus Source: HPA
  5. intermediate filament Source: ProtInc
  6. intermediate filament cytoskeleton Source: HPA
  7. keratin filament Source: InterPro
  8. nucleus Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Ichthyosis bullosa of Siemens (IBS) [MIM:146800]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.15 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti181 – 1811Q → P in IBS. 1 Publication
VAR_003865
Natural varianti182 – 1821I → N in IBS. 1 Publication
Corresponds to variant rs61622714 [ dbSNP | Ensembl ].
VAR_010514
Natural varianti186 – 1861N → D in IBS. 1 Publication
VAR_010515
Natural varianti186 – 1861N → K in IBS. 1 Publication
Corresponds to variant rs61726457 [ dbSNP | Ensembl ].
VAR_017829
Natural varianti186 – 1861N → Y in IBS. 1 Publication
Corresponds to variant rs61726454 [ dbSNP | Ensembl ].
VAR_009185
Natural varianti465 – 4651E → D in IBS. 1 Publication
VAR_031082
Natural varianti465 – 4651E → K in IBS. 1 Publication
VAR_031083
Natural varianti476 – 4761E → K in IBS. 1 Publication
Corresponds to variant rs56829062 [ dbSNP | Ensembl ].
VAR_009186
Natural varianti476 – 4761E → V in IBS. 1 Publication
Corresponds to variant rs60537449 [ dbSNP | Ensembl ].
VAR_031084
Natural varianti477 – 4771I → N in IBS. 1 Publication
VAR_031085
Natural varianti479 – 4791T → P in IBS. 1 Publication
Corresponds to variant rs61726453 [ dbSNP | Ensembl ].
VAR_009187
Natural varianti484 – 4841L → P in IBS. 2 Publications
Corresponds to variant rs61726451 [ dbSNP | Ensembl ].
VAR_010516
Natural varianti487 – 4871E → D in IBS. 1 Publication
Corresponds to variant rs61726450 [ dbSNP | Ensembl ].
VAR_003866
Natural varianti487 – 4871E → K in IBS. 7 Publications
Corresponds to variant rs61726449 [ dbSNP | Ensembl ].
VAR_003867
Natural varianti488 – 4881E → K in IBS. 1 Publication
Corresponds to variant rs61726452 [ dbSNP | Ensembl ].
VAR_031086

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

MIMi146800. phenotype.
Orphaneti455. Superficial epidermolytic ichthyosis.
PharmGKBiPA30227.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 639639Keratin, type II cytoskeletal 2 epidermalPRO_0000063715Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei62 – 621Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP35908.
PaxDbiP35908.
PeptideAtlasiP35908.
PRIDEiP35908.
ProMEXiP35908.

PTM databases

PhosphoSiteiP35908.

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

BgeeiP35908.
CleanExiHS_KRT2.
GenevestigatoriP35908.

Organism-specific databases

HPAiCAB037321.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi110047. 38 interactions.
IntActiP35908. 8 interactions.
MINTiMINT-1208580.
STRINGi9606.ENSP00000310861.

Structurei

3D structure databases

ProteinModelPortaliP35908.
SMRiP35908. Positions 178-317, 344-486.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 177177HeadAdd
BLAST
Regioni178 – 487310RodAdd
BLAST
Regioni178 – 21336Coil 1AAdd
BLAST
Regioni214 – 23219Linker 1Add
BLAST
Regioni233 – 32492Coil 1BAdd
BLAST
Regioni325 – 34824Linker 12Add
BLAST
Regioni349 – 487139Coil 2Add
BLAST
Regioni488 – 639152TailAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG146769.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP35908.
KOiK07605.
OMAiTNLDPIF.
OrthoDBiEOG7FV3Q8.
PhylomeDBiP35908.
TreeFamiTF317854.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P35908-1 [UniParc]FASTAAdd to Basket

« Hide

MSCQISCKSR GRGGGGGGFR GFSSGSAVVS GGSRRSTSSF SCLSRHGGGG    50
GGFGGGGFGS RSLVGLGGTK SISISVAGGG GGFGAAGGFG GRGGGFGGGS 100
SFGGGSGFSG GGFGGGGFGG GRFGGFGGPG GVGGLGGPGG FGPGGYPGGI 150
HEVSVNQSLL QPLNVKVDPE IQNVKAQERE QIKTLNNKFA SFIDKVRFLE 200
QQNQVLQTKW ELLQQMNVGT RPINLEPIFQ GYIDSLKRYL DGLTAERTSQ 250
NSELNNMQDL VEDYKKKYED EINKRTAAEN DFVTLKKDVD NAYMIKVELQ 300
SKVDLLNQEI EFLKVLYDAE ISQIHQSVTD TNVILSMDNS RNLDLDSIIA 350
EVKAQYEEIA QRSKEEAEAL YHSKYEELQV TVGRHGDSLK EIKIEISELN 400
RVIQRLQGEI AHVKKQCKNV QDAIADAEQR GEHALKDARN KLNDLEEALQ 450
QAKEDLARLL RDYQELMNVK LALDVEIATY RKLLEGEECR MSGDLSSNVT 500
VSVTSSTISS NVASKAAFGG SGGRGSSSGG GYSSGSSSYG SGGRQSGSRG 550
GSGGGGSISG GGYGSGGGSG GRYGSGGGSK GGSISGGGYG SGGGKHSSGG 600
GSRGGSSSGG GYGSGGGGSS SVKGSSGEAF GSSVTFSFR 639
Length:639
Mass (Da):65,433
Last modified:June 16, 2009 - v2
Checksum:iB80526BAF70078A7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti101 – 1011S → G.2 Publications
Corresponds to variant rs2634041 [ dbSNP | Ensembl ].
VAR_058293
Natural varianti181 – 1811Q → P in IBS. 1 Publication
VAR_003865
Natural varianti182 – 1821I → N in IBS. 1 Publication
Corresponds to variant rs61622714 [ dbSNP | Ensembl ].
VAR_010514
Natural varianti186 – 1861N → D in IBS. 1 Publication
VAR_010515
Natural varianti186 – 1861N → K in IBS. 1 Publication
Corresponds to variant rs61726457 [ dbSNP | Ensembl ].
VAR_017829
Natural varianti186 – 1861N → Y in IBS. 1 Publication
Corresponds to variant rs61726454 [ dbSNP | Ensembl ].
VAR_009185
Natural varianti219 – 2191G → D.
Corresponds to variant rs638043 [ dbSNP | Ensembl ].
VAR_058294
Natural varianti465 – 4651E → D in IBS. 1 Publication
VAR_031082
Natural varianti465 – 4651E → K in IBS. 1 Publication
VAR_031083
Natural varianti476 – 4761E → K in IBS. 1 Publication
Corresponds to variant rs56829062 [ dbSNP | Ensembl ].
VAR_009186
Natural varianti476 – 4761E → V in IBS. 1 Publication
Corresponds to variant rs60537449 [ dbSNP | Ensembl ].
VAR_031084
Natural varianti477 – 4771I → N in IBS. 1 Publication
VAR_031085
Natural varianti479 – 4791T → P in IBS. 1 Publication
Corresponds to variant rs61726453 [ dbSNP | Ensembl ].
VAR_009187
Natural varianti484 – 4841L → P in IBS. 2 Publications
Corresponds to variant rs61726451 [ dbSNP | Ensembl ].
VAR_010516
Natural varianti487 – 4871E → D in IBS. 1 Publication
Corresponds to variant rs61726450 [ dbSNP | Ensembl ].
VAR_003866
Natural varianti487 – 4871E → K in IBS. 7 Publications
Corresponds to variant rs61726449 [ dbSNP | Ensembl ].
VAR_003867
Natural varianti488 – 4881E → K in IBS. 1 Publication
Corresponds to variant rs61726452 [ dbSNP | Ensembl ].
VAR_031086

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti108 – 1081F → FGGGSGF in AAC83410. 1 Publication
Sequence conflicti108 – 1081F → FGGGSGF in AAB81946. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi239938650.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database
Wikipedia

Keratin-2A entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8835.1.
PIRi A44861.
RefSeqi NP_000414.2. NM_000423.2.
UniGenei Hs.707.

3D structure databases

ProteinModelPortali P35908.
SMRi P35908. Positions 178-317, 344-486.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110047. 38 interactions.
IntActi P35908. 8 interactions.
MINTi MINT-1208580.
STRINGi 9606.ENSP00000310861.

PTM databases

PhosphoSitei P35908.

Polymorphism databases

DMDMi 239938650.

Proteomic databases

MaxQBi P35908.
PaxDbi P35908.
PeptideAtlasi P35908.
PRIDEi P35908.
ProMEXi P35908.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000309680 ; ENSP00000310861 ; ENSG00000172867 .
GeneIDi 3849.
KEGGi hsa:3849.
UCSCi uc001sat.3. human.

Organism-specific databases

CTDi 3849.
GeneCardsi GC12M053038.
H-InvDB HIX0036877.
HGNCi HGNC:6439. KRT2.
HPAi CAB037321.
MIMi 146800. phenotype.
600194. gene.
neXtProti NX_P35908.
Orphaneti 455. Superficial epidermolytic ichthyosis.
PharmGKBi PA30227.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG146769.
HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi P35908.
KOi K07605.
OMAi TNLDPIF.
OrthoDBi EOG7FV3Q8.
PhylomeDBi P35908.
TreeFami TF317854.

Miscellaneous databases

GeneWikii Keratin_2A.
GenomeRNAii 3849.
NextBioi 15145.
PROi P35908.
SOURCEi Search...

Gene expression databases

Bgeei P35908.
CleanExi HS_KRT2.
Genevestigatori P35908.

Family and domain databases

InterProi IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
PRINTSi PR01276. TYPE2KERATIN.
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation."
    Collin C., Moll R., Kubicka S., Ouhayoun J.-P., Franke W.W.
    Exp. Cell Res. 202:132-141(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT GLY-101.
    Tissue: Thigh epidermis.
  2. "Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens."
    Smith F.J.D., Maingi C., Covello S.P., Higgins C., Schmidt M., Lane E.B., Uitto J., Leigh I.M., McLean W.H.I.
    J. Invest. Dermatol. 111:817-821(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS IBS TYR-186 AND LYS-476, VARIANT GLY-101.
  3. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development."
    Smith L.T., Underwood R.A., McLean W.H.I.
    Br. J. Dermatol. 140:582-591(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
  6. "Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinization."
    Bloor B.K., Tidman N., Leigh I.M., Odell E., Dogan B., Wollina U., Ghali L., Waseem A.
    Am. J. Pathol. 162:963-975(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY.
  7. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-62, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: VARIANT IBS LYS-487.
  10. Cited for: VARIANTS IBS PRO-181; PRO-484 AND LYS-487.
  11. "Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens."
    Rothnagel J.A., Traupe H., Wojcik S., Huber M., Hohl D., Pittelkow M.R., Saeki H., Ishibashi Y., Roop D.R.
    Nat. Genet. 7:485-490(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS IBS ASP-487 AND LYS-487.
  12. "A new keratin 2e mutation in ichthyosis bullosa of Siemens."
    Jones D.O., Watts C., Mills C., Sharpe G., Marks R., Bowden P.E.
    J. Invest. Dermatol. 108:354-356(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS IBS LYS-487 AND LYS-488.
  13. "A novel threonine-to-proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens."
    Yang J.-M., Lee S., Bang H.-D., Kim W.-S., Lee E.-S., Steinert P.M.
    J. Invest. Dermatol. 109:116-118(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IBS PRO-479.
  14. "A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens."
    Yang J.-M., Lee E.-S., Kang H.-J., Choi G.-S., Yoneda K., Jung S.-Y., Park K.-B., Steinert P.M., Lee E.-S.
    Acta Derm. Venereol. 78:417-419(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IBS LYS-487.
  15. "Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature."
    Basarab T., Smith F.J., Jolliffe V.M., McLean W.H.I., Neill S., Rustin M.H., Eady R.A.
    Br. J. Dermatol. 140:689-695(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IBS LYS-487.
  16. "A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens."
    Arin M.J., Longley M.A., Epstein E.H. Jr., Scott G., Goldsmith L.A., Rothnagel J.A., Roop D.R.
    J. Invest. Dermatol. 112:380-382(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IBS ASN-182.
  17. "Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene."
    Moraru R., Cserhalmi-Friedman P.B., Grossman M.E., Schneiderman P., Christiano A.M.
    Clin. Exp. Dermatol. 24:412-415(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IBS VAL-476.
  18. "A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens."
    Irvine A.D., Smith F.J., Shum K.W., Williams H.C., McLean W.H.I.
    Clin. Exp. Dermatol. 25:648-651(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IBS ASN-477.
  19. "Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens."
    Suga Y., Arin M.J., Scott G., Goldsmith L.A., Magro C.M., Baden L.A., Baden H.P., Roop D.R.
    Exp. Dermatol. 9:11-15(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS IBS LYS-465 AND ASP-465.
  20. "A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens."
    Takizawa Y., Akiyama M., Nagashima M., Shimizu H.
    J. Invest. Dermatol. 114:193-195(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IBS ASP-186.
  21. "New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens."
    Whittock N.V., Ashton G.H.S., Griffiths W.A.D., Eady R.A.J., McGrath J.A.
    Br. J. Dermatol. 145:330-335(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IBS LYS-186.
  22. "Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing."
    Akiyama M., Tsuji-Abe Y., Yanagihara M., Nakajima K., Kodama H., Yaosaka M., Abe M., Sawamura D., Shimizu H.
    Br. J. Dermatol. 152:1353-1356(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS IBS PRO-484 AND LYS-487.

Entry informationi

Entry nameiK22E_HUMAN
AccessioniPrimary (citable) accession number: P35908
Secondary accession number(s): Q4VAQ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 16, 2009
Last modified: September 3, 2014
This is version 133 of the entry and version 2 of the sequence. [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

Miscellaneous

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

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

External Data

Dasty 3

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