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SPRR2B Gene

protein-coding   GIFtS: 41
GCID: GC01M153029

Small Proline-Rich Protein 2B
  See related diseases
at
MalaCards
 

Aliases
for SPRR2B gene

(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 2B1 2
SPR-2B2 3

External Ids:    HGNC: 112621   Entrez Gene: 67012   Ensembl: ENSG000001968057   OMIM: 1822685   UniProtKB: P353253   

Export aliases for SPRR2B gene to outside databases

Previous GC identifers: GC01M150859 GC01M148825 GC01M149818 GC01M150259 GC01M149825 GC01M151278 GC01M151309 GC01M124405


Summaries
for SPRR2B gene

(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 SPRR2B Gene:
SPRR2B (small proline-rich protein 2B) is a protein-coding gene. Diseases associated with SPRR2B include oral squamous cell carcinoma, and psoriasis. An important paralog of this gene is SPRR2A.

UniProtKB/Swiss-Prot: SPR2B_HUMAN, P35325
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




Genomic Views
for SPRR2B gene

(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_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPRR2B gene promoter:
         C/EBPbeta   POU2F1   Nkx6-1   p53   POU2F1b   POU2F1a   c-Myb   POU2F1c   RORalpha2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SPRR2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPRR2B


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

SPRR2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPRR2B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M153029:  view genomic region     (about GC identifiers)

Start:
 153,042,700 bp from pter      End:
 153,113,927 bp from pter
Size:
 71,228 bases      Orientation:
 minus strand

Proteins
for SPRR2B gene

(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: SPR2B_HUMAN, P35325 (See protein sequence)
Recommended Name: Small proline-rich protein 2B  
Size: 72 amino acids; 7975 Da
Developmental stage: Expressed during differentiation of squamous cells
Secondary accessions: Q5T528

Explore the universe of human proteins at neXtProt for SPRR2B: NX_P35325

Explore proteomics data for SPRR2B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See SPRR2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001017418.1  
    ENSEMBL proteins: 
     ENSP00000357744   ENSP00000340703   ENSP00000357741  

    SPRR2B Human Recombinant Protein Products:

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    Domains /
    Families
    for SPRR2B gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 1 InterPro protein domain:
     IPR026075 SPRR/LCE

    Graphical View of Domain Structure for InterPro Entry P35325

    ProtoNet protein and cluster: P35325

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

    UniProtKB/Swiss-Prot: SPR2B_HUMAN, P35325
    Similarity: Belongs to the cornifin (SPRR) family


    SPRR2B for domains           About GeneDecksing


    Function
    for SPRR2B gene

    (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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPR2B_HUMAN, P35325
    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: By UV irradiation and carcinogenic agents. During squamous differentiation of epidermal keratinocytes

         Genatlas biochemistry entry for SPRR2B:
    small proline rich protein 2B,precursor of cornified cell envelope,cornifin,clustered in the epidermal
    differentiation complex (EDC)

    Animal Models:
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    Localization
    for SPRR2B gene

    (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
    SPR2B_HUMAN, P35325: 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 NAS8325635
    GO:0005737cytoplasm IEA--

    SPRR2B for ontologies           About GeneDecksing


    Pathways & Interactions
    for SPRR2B gene

    (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 SPRR2B
    Interactions:

        Search GeneGlobe Interaction Network for SPRR2B

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

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

    SPRR2B for ontologies           About GeneDecksing



    Drugs & Compounds
    for SPRR2B gene

    (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 SPRR2B (SPR2B)



    Transcripts
    for SPRR2B gene

    (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 SPRR2B gene: 
    NM_001017418.1  

    Unigene Cluster for SPRR2B:

    Small proline-rich protein 2B
    Hs.568239  [show with all ESTs]
    Unigene Representative Sequence: BG205263
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368755 ENST00000341611(uc001fbg.3) ENST00000368752(uc001fbj.3)

    miRNA
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    Inhib. RNA
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    Primer
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    2 DOTS entries:

    DT.91674741  DT.91758274 

    Selected AceView cDNA sequences (see all 87):

    AW238280 AI860616 BG183546 AI276842 BG185626 BV203384 BE182189 BG187580 
    BG201115 BV199889 BV199888 AW780258 BG220895 BG218533 BV199887 BG197467 
    BV199891 AW470486 BG192407 NM_006945 AI432162 BG214712 AW572396 BG194482 

    GeneLoc Exon Structure


    Expression
    for SPRR2B gene

    (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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    SPRR2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPRR2B Expression
    About this image


    SPRR2B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Tonsil (Hematopoietic System)
    SPRR2B Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    SPRR2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.568239

    UniProtKB/Swiss-Prot: SPR2B_HUMAN, P35325
    Tissue specificity: Suprabasal layers of squamous-differentiated tissues such as epidermis, esophagus, tongue and
    trachea

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    In Situ
    Assay Products:     
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    Orthologs
    for SPRR2B gene

    (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 SPRR2B gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chimpanzee
    (Pan troglodytes)    		 Mammalia SPRR2B6
    		 small proline-rich protein 2B
    		 100(a)
    		 1 ↔ 1
    		 1(131295599-131296962)


    ENSEMBL Gene Tree for SPRR2B (if available)
    TreeFam Gene Tree for SPRR2B (if available)

    Paralogs
    for SPRR2B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPRR2B gene
    SPRR2A2  

    SPRR2B for paralogs           About GeneDecksing



    Genomic Variants
    for SPRR2B gene

    (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 SPRR2B (see all 100)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs795848671,2
    		F--159543718(+) GGAAAC/TGATGA 1 -- ds50011Minor allele frequency- T:0.08WA 118
    rs3101021,2
    		C,F,A,H--159543828(-) AAATAG/ATCTAA 1 -- ds500112Minor allele frequency- A:0.35NA WA CSA EA 374
    rs719184701,2
    		C--159543874(+) AAAAG-/ATAGACA 1 -- ds50010--------
    rs724774021,2
    		--159543875(+) AAAGAG/TAGACA 1 -- ds50010--------
    rs3101031,2
    		C,F,A,H--159543959(+) CAGAAA/CTAATA 1 -- ds500118Minor allele frequency- C:0.32NS EA NA WA CSA 966
    rs22753011,2
    		C,F,H--159544197(+) ACACAG/CAACAC 1 -- ut316Minor allele frequency- C:0.08EA NS 2018
    rs1809800831,2
    		--159544244(+) CTGCAA/GCTCTT 1 -- ut310--------
    rs1178506481,2
    		C,F--159544317(+) TGGCAG/ATATGG 1 -- ut311Minor allele frequency- A:0.03EA 120
    rs1122274331,2
    		C--159544378(+) ACAGG-/CTAAGG 1 -- ut311Minor allele frequency- C:0.00CSA 2
    rs3719393101,2
    		C--159544474(+) ATCCTC/TTCATG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SPRR2B (153042700 - 153113927 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SPRR2B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718239CNV Deletion23290073
    nsv464017CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPRR2B
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    Disorders / Diseases
    for SPRR2B gene

    (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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    OMIM gene information: 182268    OMIM disorders: --

    5 diseases for SPRR2B:    
    About MalaCards
    oral squamous cell carcinoma    psoriasis    bronchiolitis    asthma
    squamous cell carcinoma


    SPRR2B for disorders           About GeneDecksing


    Export disorders for SPRR2B gene to outside databases

    Publications
    for SPRR2B gene

    (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 SPRR2B gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with SPRR2B)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. (PubMed id 8325635)1, 2, 3 Gibbs S.... Backendorf C. (Genomics 1993)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. 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)
    4. Infection with Human Papillomavirus alters expression of the small proline rich proteins 2 and 3. (PubMed id 14748073)1, 9 Lehr E....Brown D. (J. Med. Virol. 2004)
    5. Genetic variation in small proline rich protein 2B as a predictor for asthma among children with eczema. (PubMed id 22374195)1 Epstein T.G....Khurana Hershey G.K. (amp 2012)
    6. Four-gene expression model predictive of lymph node metastases in oral squamous cell carcinoma. (PubMed id 21985131)1 Pasini F.S....Federico M.H. (Acta Oncol 2012)
    7. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    8. 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)
    9. Expression and regulation of cornified envelope proteins in human corneal epithelium. (PubMed id 16639001)1 Tong L....Pflugfelder S.C. (amp 2006)
    10. 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)

    External Searches for SPRR2B gene

    (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)

    Genome Databases showing SPRR2B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6701 HGNC: 11262 AceView: SPRR2B Ensembl:ENSG00000196805 euGenes: HUgn6701
    ECgene: SPRR2B H-InvDB: SPRR2B

    Other Databases showing SPRR2B gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing SPRR2B gene

    (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 SPRR2B Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SPRR2B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for SPRR2B gene:
    Search GeneIP for patents involving SPRR2B

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



    Products
    for SPRR2B gene

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

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