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KRT222 Gene

protein-coding   GIFtS: 40
GCID: GC17M038810

Keratin 222

(Previous name: keratin 222 pseudogene)
(Previous symbol: KRT222P)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Keratin 2221 2     KA212 3
KRT222P1 2 3     Keratin-Like Protein KRT2222
Keratin 222 Pseudogene1 2     Keratin-2223
Keratin-222 Pseudogene2 3     

External Ids:    HGNC: 286951   Entrez Gene: 1251132   Ensembl: ENSG000002134247   UniProtKB: Q8N1A03   

Export aliases for KRT222 gene to outside databases

Previous GC identifers: GC17M036065 GC17M034606


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KRT222 Gene:
KRT222 (keratin 222) is a protein-coding gene. Diseases associated with KRT222 include endotheliitis. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is ENSG00000264058.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KRT222
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT222 promoter sequence
   Search Chromatin IP Primers for KRT222

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT222


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.2   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2

KRT222 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT222 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M038810:  view genomic region     (about GC identifiers)

Start:
38,810,917 bp from pter      End:
38,821,433 bp from pter
Size:
10,517 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KT222_HUMAN, Q8N1A0 (See protein sequence)
Recommended Name: Keratin-like protein KRT222  
Size: 295 amino acids; 34158 Da
Caution: According to PubMed:16831889, it is a pseudogene
Secondary accessions: Q7Z368
Alternative splicing: 2 isoforms:  Q8N1A0-1   Q8N1A0-2   

Explore the universe of human proteins at neXtProt for KRT222: NX_Q8N1A0

Explore proteomics data for KRT222 at MOPED


See KRT222 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689562.1  
ENSEMBL proteins: 
 ENSP00000377613   ENSP00000377616   ENSP00000463865   ENSP00000464647  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 IPR018039 Intermediate_filament_CS
 IPR001664 IF
 IPR002957 Keratin_I

Graphical View of Domain Structure for InterPro Entry Q8N1A0

ProtoNet protein and cluster: Q8N1A0

UniProtKB/Swiss-Prot: KT222_HUMAN, Q8N1A0
Similarity: Belongs to the intermediate filament family


KRT222 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005198structural molecule activity IEA--
     
KRT222 for ontologies           About GeneDecksing


Animal Models:
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miRNA
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miRTarBase miRNAs that target KRT222:
hsa-mir-26b-5p (MIRT029108)

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3 qRT-PCR Assays for microRNAs that regulate KRT222:
hsa-miR-9 hsa-miR-616* hsa-miR-373*
SwitchGear 3'UTR luciferase reporter plasmidKRT222 3' UTR sequence
Inhib. RNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytoskeleton3
cytosol2
nucleus2
peroxisome2
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005882intermediate filament IEA--

KRT222 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRT222
Interactions:

    Search GeneGlobe Interaction Network for KRT222

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for KRT222 (KT222)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KRT222 gene: 
NM_152349.2  

Unigene Cluster for KRT222:

Keratin 222
Hs.6920  [show with all ESTs]
Unigene Representative Sequence: NM_152349
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000394049(uc002hvb.2 uc002hvc.2) ENST00000394052 ENST00000581564(uc010cxc.3)
ENST00000580719
miRNA
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3 qRT-PCR Assays for microRNAs that regulate KRT222:
hsa-miR-9 hsa-miR-616* hsa-miR-373*
SwitchGear 3'UTR luciferase reporter plasmidKRT222 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat KRT222

Additional mRNA sequence: 

AK308598.1 BC032815.1 BX538083.1 

4 DOTS entries:

DT.95259944  DT.208369  DT.100890768  DT.120996230 

Selected AceView cDNA sequences (see all 568):

CK299411 BM766141 AA385956 BU630842 CR595985 BQ189244 AI298193 BP353945 
BM695900 BQ923451 BU738671 AU130252 BE780163 AI248088 AI972247 F10394 
AI248952 BC063700 BQ213769 AI342633 AI633975 BE220301 C02168 AA442014 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KRT222 expression in normal human tissues (normalized intensities)      KRT222 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAGTATTCCC
KRT222 Expression
About this image


KRT222 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Testis (Reproductive System)
         Sertoli cells Seminiferous Tubules
 
 NULL (Uncategorized)
         Vascular endothelial growth factor-induced embryoid bodies
 
 Endothelium (Cardiovascular System)
         Endothelial Cells Blood Brain Barrier
 
 Brain (Nervous System)
         Endothelial Cells Blood Brain Barrier
KRT222 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRT222 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.6920
    Custom PCR Arrays for KRT222
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QuantiFast Probe-based Assays in human, mouse, rat KRT222
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT222

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for KRT222 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krt2221 , 5 keratin 2221, 5 85.94(n)1
88.78(a)1
  11 (62.92 cM)5
2684811  NM_172946.21  NP_766534.11 
 992327615 
chicken
(Gallus gallus)
Aves KRT2221 keratin 222 70.73(n)
67.38(a)
  420046  NM_001195477.1  NP_001182406.1 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
68(a)
1 → many
6(70359764-70386239)
tropical clawed frog
(Xenopus tropicalis)
Amphibia krt2221 keratin 222 64.71(n)
56.75(a)
  100488319  XM_004918694.1  XP_004918751.1 
zebrafish
(Danio rerio)
Actinopterygii si:ch73-78i5.31 si:ch73-78i5.3 59.1(n)
56.72(a)
  100003752  XM_001343189.4  XP_001343225.3 


ENSEMBL Gene Tree for KRT222 (if available)
TreeFam Gene Tree for KRT222 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KRT222 gene
ENSG000002640582  
1 SIMAP similar gene for KRT222 using alignment to 2 protein entries:     KT222_HUMAN (see all proteins):
KRT5

KRT222 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KRT222 (see all 201)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs732953331,2
C,F--38811645(+) TTGAAC/TGATTT 1 -- ds50012Minor allele frequency- T:0.08WA 120
rs793778481,2
C,F--38811958(+) TCTTCC/TGGAAA 1 -- ut311Minor allele frequency- T:0.04WA 118
rs1912116931,2
C--38812030(+) CTCAAA/GTTAGC 1 -- ut310--------
rs176367041,2
C,F,H--38812046(+) GGTGTG/ATTCTA 1 -- ut318Minor allele frequency- A:0.02NA NS 668
rs1808474821,2
--38812202(+) AAACAC/TTGTAG 1 -- ut310--------
rs1122658681,2
C,F--38812232(+) AATGGC/TGAATA 1 -- ut311Minor allele frequency- T:0.50CSA 2
rs1857836551,2
--38812256(+) CTTAAC/TACAAT 1 -- ut310--------
rs1405538641,2
C--38812451(+) CATTC-/ATATATA 1 -- ut310--------
rs3733548031,2
C--38812452(+) TCATT-/ATTATAT 1 -- ut310--------
rs1910293901,2
--38812529(+) GAGAAC/TCACAT 1 -- ut310--------

HapMap Linkage Disequilibrium report for KRT222 (38810917 - 38821433 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for KRT222:    About this table    
Variant IDTypeSubtypePubMed ID
nsv908225CNV Loss21882294
dgv960e1CNV Complex17122850

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KRT222
DNA2.0 Custom Variant and Variant Library Synthesis for KRT222

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for KRT222:    About MalaCards
endotheliitis


KRT222 for disorders           About GeneDecksing


Export disorders for KRT222 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for KRT222 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRT222)
    Utopia: connect your pdf to the dynamic
world of online information

  1. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 2, 3 Schweizer J....Wright M.W. (J. Cell Biol. 2006)
  2. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
  3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  4. Comprehensive analysis of keratin gene clusters in humans and rodents. (PubMed id 15085952)1 Hesse M.... Magin T.M. (Eur. J. Cell Biol. 2004)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 125113 HGNC: 28695 AceView: SMARCE1andMGC45562 Ensembl:ENSG00000213424 euGenes: HUgn125113
ECgene: KRT222 H-InvDB: KRT222

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KRT222 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KRT222 gene:
Search GeneIP for patents involving KRT222

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 SwitchGear 3'UTR luciferase reporter plasmids for KRT222
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT222
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRT222
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KRT222
 LSBio Antibodies in human, mouse, rat for KRT222
Customized transgenic rodents for:
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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