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UniProtKB - P35908 (K22E_HUMAN)

Entry version 182 (16 Oct 2019)
Sequence version 2 (16 Jun 2009)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei429Stutter1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KRT2
Synonyms:KRT2A, KRT2E
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6439 KRT2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600194 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P35908

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Intermediate filament, Keratin

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		3849

MalaCards human disease database

More...MalaCardsi		KRT2
MIMi146800 phenotype

Open Targets

More...OpenTargetsi		ENSG00000172867

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		455 Superficial epidermolytic ichthyosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30227

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P35908

Chemistry databases

Drug and drug target database

More...DrugBanki		DB11157 Anthralin
DB09130 Copper
DB01593 Zinc
DB14487 Zinc acetate
DB14533 Zinc chloride

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KRT2

Domain mapping of disease mutations (DMDM)

More...DMDMi		239938650

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000637151 – 639Keratin, type II cytoskeletal 2 epidermalAdd BLAST639

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei12Omega-N-methylarginineBy similarity1
Modified residuei20Asymmetric dimethylarginineBy similarity1
Modified residuei23PhosphoserineBy similarity1
Modified residuei26PhosphoserineBy similarity1
Modified residuei62PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		non-CPTAC-1137

Encyclopedia of Proteome Dynamics

More...EPDi		P35908

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P35908

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P35908

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P35908

PeptideAtlas

More...PeptideAtlasi		P35908

PRoteomics IDEntifications database

More...PRIDEi		P35908

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		12657
55161

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P35908

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P35908

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P35908

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000172867 Expressed in 95 organ(s), highest expression level in upper arm skin

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P35908 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB037321
HPA006299

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110047, 85 interactors

Protein interaction database and analysis system

More...IntActi		P35908, 29 interactors

Molecular INTeraction database

More...MINTi		P35908

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000310861

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P35908

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini178 – 491IF rodPROSITE-ProRule annotationAdd BLAST314

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IJPR Eukaryota
ENOG410XWGZ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162573

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000230976

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P35908

KEGG Orthology (KO)

More...KOi		K07605

Identification of Orthologs from Complete Genome Data

More...OMAi		RDYERHV

Database of Orthologous Groups

More...OrthoDBi		824246at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P35908

TreeFam database of animal gene trees

More...TreeFami		TF317854

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.5.1160, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR042180 IF_rod_dom_coil1B
IPR032444 Keratin_2_head
IPR003054 Keratin_II

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00038 Filament, 1 hit
PF16208 Keratin_2_head, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01276 TYPE2KERATIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01391 Filament, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB80526BAF70078A7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8835.1

Protein sequence database of the Protein Information Resource

More...PIRi		A44861

NCBI Reference Sequences

More...RefSeqi		NP_000414.2, NM_000423.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000309680; ENSP00000310861; ENSG00000172867

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3849

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3849

UCSC genome browser

More...UCSCi		uc001sat.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

SMRiP35908
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110047, 85 interactors
IntActiP35908, 29 interactors
MINTiP35908
STRINGi9606.ENSP00000310861

Chemistry databases

DrugBankiDB11157 Anthralin
DB09130 Copper
DB01593 Zinc
DB14487 Zinc acetate
DB14533 Zinc chloride

PTM databases

iPTMnetiP35908
PhosphoSitePlusiP35908
SwissPalmiP35908

Polymorphism and mutation databases

BioMutaiKRT2
DMDMi239938650

Proteomic databases

CPTACinon-CPTAC-1137
EPDiP35908
jPOSTiP35908
MassIVEiP35908
PaxDbiP35908
PeptideAtlasiP35908
PRIDEiP35908
ProteomicsDBi12657
55161

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3849
DisGeNETi3849

GeneCards: human genes, protein and diseases

More...GeneCardsi		KRT2
HGNCiHGNC:6439 KRT2
HPAiCAB037321
HPA006299
MalaCardsiKRT2
MIMi146800 phenotype
600194 gene
neXtProtiNX_P35908
OpenTargetsiENSG00000172867
Orphaneti455 Superficial epidermolytic ichthyosis
PharmGKBiPA30227

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IJPR Eukaryota
ENOG410XWGZ LUCA
GeneTreeiENSGT00940000162573
HOGENOMiHOG000230976
InParanoidiP35908
KOiK07605
OMAiRDYERHV
OrthoDBi824246at2759
PhylomeDBiP35908
TreeFamiTF317854

Enzyme and pathway databases

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

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Keratin_2A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		3849
PharosiP35908

Protein Ontology

More...PROi		PR:P35908

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000172867 Expressed in 95 organ(s), highest expression level in upper arm skin
GenevisibleiP35908 HS

Family and domain databases

Gene3Di1.20.5.1160, 1 hit
InterProiView protein in InterPro
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR042180 IF_rod_dom_coil1B
IPR032444 Keratin_2_head
IPR003054 Keratin_II
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiK22E_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P35908
Secondary accession number(s): Q4VAQ2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 16, 2009
Last modified: October 16, 2019
This is version 182 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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