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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPRR2E Gene

protein-coding   GIFtS: 33
GCID: GC01M153065

Small Proline-Rich Protein 2E

  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)
About This Section

Aliases
Small Proline-Rich Protein 2E1 2
Small Proline-Rich Protein II2 3
SPR-2E2 3
SPR-II2 3

External Ids:    HGNC: 112651   Entrez Gene: 67042   Ensembl: ENSG000002037857   UniProtKB: P225313   

Export aliases for SPRR2E gene to outside databases

Previous GC identifers: GC01U990159 GC01M149827 GC01M151333 GC01M151337 GC01M124428


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SPRR2E Gene: 
SPRR2E (small proline-rich protein 2E) is a protein-coding gene. Diseases associated with SPRR2E include psoriasis. GO annotations related to this gene include protein binding and structural molecule activity. An important paralog of this gene is SPRR2D.

UniProtKB/Swiss-Prot: SPR2E_HUMAN, P22531
Function: Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the
cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in
the formation of an insoluble envelope beneath the plasma membrane




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPRR2E gene promoter:
         TBP   HOXA5   Zic1   Zic3   RORalpha2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPRR2E promoter sequence
   Search SABiosciences Chromatin IP Primers for SPRR2E

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPRR2E


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

Entrez Gene cytogenetic band: 1q21-q22   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21-q22

SPRR2E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPRR2E gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M153065:  view genomic region     (about GC identifiers)

Start:
153,065,611 bp from pter      End:
153,078,660 bp from pter
Size:
13,050 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPR2E_HUMAN, P22531 (See protein sequence)
Recommended Name: Small proline-rich protein 2E  
Size: 72 amino acids; 7855 Da
Subcellular location: Cytoplasm
Secondary accessions: Q5T9T4 Q96RM2

Explore the universe of human proteins at neXtProt for SPRR2E: NX_P22531

Explore proteomics data for SPRR2E at MOPED 

SPRR2E Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SPRR2E Protein Expression

REFSEQ proteins: NP_001019380.2  
ENSEMBL proteins: 
 ENSP00000357739   ENSP00000357740  

Human Recombinant Protein Products for SPRR2E: 
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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001533cornified envelope NAS--
GO:0005737cytoplasm IDA3133554

SPRR2E for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR026075 SPRR/LCE

Graphical View of Domain Structure for InterPro Entry P22531

ProtoNet protein and cluster: P22531

1 Blocks protein domain: IPB003267 Small proline-rich protein signature

UniProtKB/Swiss-Prot: SPR2E_HUMAN, P22531
Similarity: Belongs to the cornifin (SPRR) family


SPRR2E 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: SPR2E_HUMAN, P22531
Function: Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the
cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in
the formation of an insoluble envelope beneath the plasma membrane
Induction: During squamous differentiation of epidermal keratinocytes

     Genatlas biochemistry entry for SPRR2E:
small proline rich protein 2E,precursor of cornified cell envelope,cornifin,clustered in the epidermal
differentiation complex (EDC)

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005198structural molecule activity TAS3133554
GO:0005515protein binding IPI9722562
     
SPRR2E for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPRR2E

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008544epidermis development NAS8325635
GO:0030216keratinocyte differentiation NAS--
GO:0031424keratinization IEA--

SPRR2E for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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(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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SPRR2E gene: 
NM_001024209.2  

Unigene Cluster for SPRR2E:

Small proline-rich protein 2E
Hs.568518  [show with all ESTs]
Unigene Representative Sequence: BG219413
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000368750(uc001fbh.3) ENST00000368751
miRNA
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Additional mRNA sequence: 

BC058018.1 M20030.1 

5 DOTS entries:

DT.91674741  DT.100016088  DT.91925344  DT.95372106  DT.95375946 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SPRR2E expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGCTTCTAAC
SPRR2E Expression
About this image


See SPRR2E Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.568518
    SABiosciences Custom PCR Arrays for SPRR2E
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPRR2E

(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)
About This Section
  --

ENSEMBL Gene Tree for SPRR2E (if available)
TreeFam Gene Tree for SPRR2E (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for SPRR2E gene
SPRR2D2  

SPRR2E 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/109 SNPs in SPRR2E are shown (see all 109)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1161540931,2
F--153065111(+) AAAAAA/GACAGA 1 -- int11Minor allele frequency- G:0.02WA 118
rs39134371,2
C,F,A--153065207(-) tcatcA/Ctcatc 1 -- int13Minor allele frequency- C:0.18NA WA 240
rs1895137611,2
--153065215(+) TGATGA/GTGGTG 1 -- int10--------
rs38432571,2
C,F,A,H--153065287(-) ATAATT/GAGCTG 1 -- int126Minor allele frequency- G:0.40EA NA NS WA CSA 2537
rs1818311741,2
--153065377(+) TGGTCA/GCTTTG 1 -- int10--------
rs1849314871,2
--153065571(+) ACTAAC/TAAAGC 1 -- int10--------
rs66731261,2
C--153065581(+) CAGATT/CTGAAA 1 -- int15Minor allele frequency- C:0.19NA WA EA 362
rs412645941,2
--153065631(+) ATTTTA/CTTCAG 1 -- ut310--------
rs1817315291,2
--153065663(+) TTGCAC/TAGGTG 1 -- ut310--------
rs1865381781,2
--153065748(+) AGCTGC/TTGGTC 1 -- ut310--------

HapMap Linkage Disequilibrium report for SPRR2E (153065611 - 153078660 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for SPRR2E:    About this table     
Variant IDTypeSubtypePubMed ID
esv2718239CNV Deletion23290073
nsv464017CNV Loss19166990

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(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.)
About This Section
2 diseases for SPRR2E:    About MalaCards
psoriasis    


SPRR2E for disorders           About GeneDecksing


Export disorders for SPRR2E 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)
About This Section

PubMed articles for SPRR2E gene integrated from 9 sources:
(articles sorted by number of sources associating them with SPRR2E)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
  2. Structural organization and regulation of the small proline-rich family of cornified envelope precursors suggest a role in adaptive barrier function. (PubMed id 11279051)1, 2 Cabral A....Backendorf C. (2001)
  3. Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. (PubMed id 8325635)1, 3 Gibbs S.... Backendorf C. (1993)
  4. Isolation, characterization, and UV-stimulated expression of two families of genes encoding polypeptides of related structure in human epidermal keratinocytes. (PubMed id 3133554)1, 2 Kartasova T. and van de Putte P. (1988)
  5. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
  6. Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families. (PubMed id 18643845)1 Kainu K....Saarialho-Kere U. (2009)
  7. Estrogen regulates the expression of the small proline-rich 2 gene family in the mouse uterus. (PubMed id 15232223)1 Hong S.H....Kim M.K. (2004)
  8. 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. (2002)
  9. Mouse Sprr2 genes: a clustered family of genes showing differential expression in epithelial tissues. (PubMed id 9888996)1 Song H.J....Kartasova T. (1999)
  10. Structural and transglutaminase substrate properties of the small proline-rich 2 family of cornified cell envelope proteins. (PubMed id 9722562)1 Tarcsa E....Steinert P.M. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 6704 HGNC: 11265 Ensembl:ENSG00000203785 euGenes: HUgn6704 ECgene: SPRR2E
H-InvDB: SPRR2E

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for SPRR2E Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for SPRR2E gene:
Search GeneIP for patents involving SPRR2E

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 Proteins for SPRR2E
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPRR2E
 SwitchGear 3'UTR luciferase reporter plasmids for SPRR2E
 SwitchGear Promoter luciferase reporter plasmids for SPRR2E
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPRR2E
 inGenious Targeting Laboratory - Custom generated mouse model solutions for SPRR2E
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPRR2E
Customized:
 lentivirus for stable overexpression of SPRR2E
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 adenovirus for overexpression of SPRR2E
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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