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SPRR2C Gene

pseudogene   GIFtS: 32
GCID: GC01M153112

Small Proline-Rich Protein 2C (Pseudogene)

(Previous name: small proline-rich protein 2C)
  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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Small Proline-Rich Protein 2C (Pseudogene)1 2
Small Proline-Rich Protein 2C1 2

External Ids:    HGNC: 112631   Entrez Gene: 67022   Ensembl: ENSG000002290357   OMIM: 1822695   UniProtKB: Q155154   
ORGUL members:         

Export aliases for SPRR2C gene to outside databases

Previous GC identifers: GC01M150928 GC01M148895 GC01M149887 GC01M150329 GC01M150228 GC01M149926 GC01U901201 GC01M151380 GC01M151381 GC01M124475


(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 SPRR2C Gene:
SPRR2C (small proline-rich protein 2C (pseudogene)) is a pseudogene, and is affiliated with the lncRNA class. Diseases associated with SPRR2C include adenocarcinoma.


(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 SPRR2C gene promoter:
         TBP   Pbx1a   CUTL1   E4BP4   MEF-2A   Zic1   HOXA5   aMEF-2   Zic3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SPRR2C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPRR2C


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

SPRR2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPRR2C gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M153112:  view genomic region     (about GC identifiers)

Start:
153,112,594 bp from pter      End:
153,113,969 bp from pter
Size:
1,376 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/TrEMBL: Q15515 (See protein sequence)
Recommended Name: Small proline-rich protein  
Size: 72 amino acids; 8055 Da


(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 Q15515

ProtoNet protein and cluster: Q15515

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


SPRR2C 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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Molecular Function:
     Genatlas biochemistry entry for SPRR2C:
small proline rich protein 2C,precursor of cornified cell envelope,cornifin,clustered in the epidermal
differentiation complex (EDC)

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miRTarBase miRNAs that target SPRR2C:
hsa-mir-196a-5p (MIRT000219)

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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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(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 SPRR2C
Interactions:

    Search GeneGlobe Interaction Network for SPRR2C

1 Interacting protein for SPRR2C (Q155152, 3) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
USP13Q929952, 3MINT-65080 I2D: score=1 
About this table

(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 SPRR2C



(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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Unigene Cluster for SPRR2C:

Small proline-rich protein 2C (pseudogene)
Hs.2421  [show with all ESTs]
Unigene Representative Sequence: M21539
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000290702
miRNA
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Additional mRNA sequence: 

BC120937.1 M21539.1 NR_003062.1 

2 DOTS entries:

DT.110493  DT.92416036 

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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SPRR2C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGCTTCTACT
SPRR2C Expression
About this image

SPRR2C Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.2421
    Custom PCR Arrays for SPRR2C
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPRR2C

(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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ENSEMBL Gene Tree for SPRR2C (if available)
TreeFam Gene Tree for SPRR2C (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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 SPRR2C (see all 88)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs799156481,2
F--159613536(+) GTGGTG/CGTTGT 1 -- ds50011Minor allele frequency- C:0.04WA 118
rs1499198821,2
--159613625(+) TCAATC/TAAATG 1 -- ds50010--------
rs787075991,2
F--159613652(+) CAAGCA/GTTCTG 1 -- ds50011Minor allele frequency- G:0.06WA 118
rs745360411,2
C,F--159613658(+) TTCTGC/TCAACC 1 -- ds50011Minor allele frequency- T:0.13WA 118
rs37665311,2
C,F,H--159613742(+) AGTAAA/GGAGAC 1 -- ds50015Minor allele frequency- G:0.04NS EA 536
rs1153696601,2
C--159613763(+) GGAAGT/CTGAAT 1 -- ds50011Minor allele frequency- C:0.01NA 120
rs1876317951,2
--159613768(+) TTGAAA/TAATAT 1 -- ds50010--------
rs37665321,2
C,F,A,H--159613771(+) AATAAT/CATGTT 1 -- ds500118Minor allele frequency- C:0.17NS EA NA WA CSA 2168
rs593442791,2
C,F--159613815(+) TAAAAC/TGGGTT 1 -- ds50012Minor allele frequency- T:0.02WA 120
rs1915618841,2
--159613905(+) AAAGAC/TAGAAA 1 -- ds50010--------

HapMap Linkage Disequilibrium report for SPRR2C (153112594 - 153113969 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for SPRR2C:    About this table    
Variant IDTypeSubtypePubMed ID
nsv2921CNV Insertion18451855

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing SPRR2C
DNA2.0 Custom Variant and Variant Library Synthesis for SPRR2C

(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: 182269    OMIM disorders: --

1 disease for SPRR2C:    About MalaCards
adenocarcinoma


SPRR2C for disorders           About GeneDecksing


Export disorders for SPRR2C 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 SPRR2C gene integrated from 10 sources:
(articles sorted by number of sources associating them with SPRR2C)
    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, 3 Gibbs S.... Backendorf C. (Genomics 1993)
  2. Isolation, characterization, and UV-stimulated expression of two families of genes encoding polypeptides of related structure in human epidermal keratinocytes. (PubMed id 3133554)1, 3 Kartasova T. and van de Putte P. (Mol. Cell. Biol. 1988)
  3. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)
  4. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
  5. 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)
  6. 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)
  7. 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 Cabral A....Backendorf C. (J. Biol. Chem. 2001)
  8. MicroRNA-196a is a potential marker of progression during Barrett's metaplasia-dysplasia-invasive adenocarcinoma sequence in esophagus. (PubMed id 19342367)9 Maru D.M....Luthra R. (Am. J. Pathol. 2009)

(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: 6702 HGNC: 11263 Ensembl:ENSG00000229035 euGenes: HUgn6702 ECgene: SPRR2C
H-InvDB: SPRR2C

(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 SPRR2C 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 SPRR2C gene:
Search GeneIP for patents involving SPRR2C

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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