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SPRR2E Gene

protein-coding   GIFtS: 33
GCID: GC01M153065

Small Proline-Rich Protein 2E

  Search for SPRR2E
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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SPRR2E Gene:
This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation
complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified
cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia.
This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G)
appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater
differences in protein structure. (provided by RefSeq, Feb 2014)

GeneCards Summary for SPRR2E Gene:
SPRR2E (small proline-rich protein 2E) is a protein-coding gene. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   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
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
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UniProtKB/Swiss-Prot: SPR2E_HUMAN, P22531 (See protein sequence)
Recommended Name: Small proline-rich protein 2E  
Size: 72 amino acids; 7855 Da
Secondary accessions: Q5T9T4 Q96RM2

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

Explore proteomics data for SPRR2E at MOPED


See SPRR2E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001019380.2  
ENSEMBL proteins: 
 ENSP00000357739   ENSP00000357740  

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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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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


Find genes that share domains with SPRR2E           About GenesLikeMe


(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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005198structural molecule activity TAS3133554
GO:0005515protein binding IPI9722562
     
Find genes that share ontologies with SPRR2E           About GenesLikeMe


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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 UniProtKB/Swiss-Prot
SPR2E_HUMAN, P22531: Cytoplasm
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytoskeleton5
cytosol2
extracellular2

Gene Ontology (GO): 2 cellular component terms:    About this table

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

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(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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Interactions:

    Search GeneGlobe Interaction Network for SPRR2E

Gene Ontology (GO): 3 biological process terms:    About this table

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

Find genes that share ontologies with SPRR2E           About GenesLikeMe



(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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(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for SPRR2E gene: 
NM_001024209.3  

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
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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™, 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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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

SPRR2E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SPRR2E Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.568518
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(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 human and chimp.

Orthologs for SPRR2E gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia SPRR2E6
small proline-rich protein 2E
100(a)
1 ↔ 1
1(131318538-131319928)


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)
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Paralogs for SPRR2E gene
SPRR2D2  

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(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 SPRR2E (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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(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 SPRR2E gene, integrated from 10 sources (see all 11):
(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. (Nature 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. (J. Biol. Chem. 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. (Genomics 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. (Mol. Cell. Biol. 1988)
  5. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 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. (Exp. Dermatol. 2009)
  7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  8. 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. (Mol. Cells 2004)
  9. 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)
  10. Mouse Sprr2 genes: a clustered family of genes showing differential expression in epithelial tissues. (PubMed id 9888996)1 Song H.J....Kartasova T. (Genomics 1999)

(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: 6704 HGNC: 11265 Ensembl:ENSG00000203785 euGenes: HUgn6704 ECgene: SPRR2E
H-InvDB: SPRR2E

(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 SPRR2E 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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