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SPRR2A Gene

protein-coding   GIFtS: 45
GCID: GC01M153028

Small Proline-Rich Protein 2A

  See related diseases
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 2A1 2
2-12 3
SPR-2A2 3

External Ids:    HGNC: 112611   Entrez Gene: 67002   Ensembl: ENSG000002417947   OMIM: 1822675   UniProtKB: P353263   

Export aliases for SPRR2A gene to outside databases

Previous GC identifers: GC01M150829 GC01M148811 GC01M149803 GC01M150245 GC01M149842 GC01M151295 GC01M124391


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

UniProtKB/Swiss-Prot: SPR2A_HUMAN, P35326
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

Gene Wiki entry for SPRR2A 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 SPRR2A gene promoter:
         C/EBPbeta   Pbx1a   p53   Nkx6-1   POU2F1   POU2F1b   POU2F1a   c-Myb   Msx-1   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPRR2A promoter sequence
   Search Chromatin IP Primers for SPRR2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPRR2A


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

SPRR2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPRR2A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M153028:  view genomic region     (about GC identifiers)

Start:
153,028,589 bp from pter      End:
153,030,013 bp from pter
Size:
1,425 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPR2A_HUMAN, P35326 (See protein sequence)
Recommended Name: Small proline-rich protein 2A  
Size: 72 amino acids; 7965 Da
Secondary accessions: B2R4T3 D3DV35 Q5T529

Explore the universe of human proteins at neXtProt for SPRR2A: NX_P35326

Explore proteomics data for SPRR2A at MOPED


See SPRR2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_005979.1  
ENSEMBL proteins: 
 ENSP00000376423  

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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 P35326

ProtoNet protein and cluster: P35326

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

UniProtKB/Swiss-Prot: SPR2A_HUMAN, P35326
Similarity: Belongs to the cornifin (SPRR) family


SPRR2A 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:

     UniProtKB/Swiss-Prot Summary: SPR2A_HUMAN, P35326
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 SPRR2A:
small proline rich protein 2,precursor of cornified cell envelope,cornifin,associating with the nuclear
matrix,putative target for ELF3,clustered in the epidermal differentiation complex (EDC)

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI18155796
     
SPRR2A for ontologies           About GeneDecksing


Animal Models:
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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
SPR2A_HUMAN, P35326: Cytoplasm
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytoskeleton5
cytosol1
extracellular1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0001533cornified envelope NAS8325635
GO:0005737cytoplasm IDA16639001

SPRR2A 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 SPRR2A
Interactions:

    GeneGlobe Interaction Network for SPRR2A

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

Selected Interacting proteins for SPRR2A (P353261, 2, 3 ENSP000003764234) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
InteractantInteraction Details
GeneCardExternal ID(s)
ABL1P005192, 3, ENSP000003614234MINT-7304327 I2D: score=1 STRING: ENSP00000361423
CRKP461082, 3, ENSP000003005744MINT-7304314 I2D: score=1 STRING: ENSP00000300574
CTTNQ142472, 3, ENSP000003018434MINT-7304360 I2D: score=1 STRING: ENSP00000301843
HCKP086312, 3, ENSP000003650124MINT-7304343 I2D: score=1 STRING: ENSP00000365012
DLG4P783522, 3MINT-7304301 I2D: score=1 
About this table

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--

SPRR2A for ontologies           About GeneDecksing



(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 SPRR2A (SPR2A)

1 Novoseek inferred chemical compound relationship for SPRR2A gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
calcium 0 1 10413601 (1)



SPRR2A for compounds           About GeneDecksing



(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 SPRR2A gene: 
NM_005988.2  

Unigene Cluster for SPRR2A:

Small proline-rich protein 2A
Hs.355542  [show with all ESTs]
Unigene Representative Sequence: BG199584
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000392653(uc001fbd.3 uc001fbf.3)
miRNA
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Primer
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Additional mRNA sequence: 

AK311939.1 BC096108.1 BC096109.1 BC096110.1 BC096111.1 BC128049.1 

5 DOTS entries:

DT.91674741  DT.91758278  DT.91758282  DT.95375946  DT.95252248 

15 AceView cDNA sequences:

BE181484 BE181596 BE181478 BE181477 BE181113 BE710505 BE182589 BE714433 
BE714993 BE181486 BE182586 BF830417 BE182593 BE181074 BE181521 

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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SPRR2A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATGATCCCTG
SPRR2A Expression
About this image


SPRR2A expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 9) fully expand
 
 Thymus (Hematopoietic System)
         Thymus
 
 Epithelial Cells
         Corneocytes Stratified Epidermis
 
 Epidermis (Integumentary System)
         Corneocytes Stratified Epidermis
 
 Adipose (Muscoskeletal System)
         Mesenchymal Stem Cells Subcutaneous White Adipose
 
 Epiblast (Early Embryonic Tissues)
         Epiblast Stem Cell line 5
SPRR2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SPRR2A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.355542
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPRR2A

(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 mouse.

Orthologs for SPRR2A gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Sprr2a15 small proline-rich protein 2A1   --   3 (40.14 cM) 92215835 


ENSEMBL Gene Tree for SPRR2A (if available)
TreeFam Gene Tree for SPRR2A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SPRR2A gene
SPRR2B2  

SPRR2A 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 SPRR2A (see all 86)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1179193851,2
C,F--153028111(+) TTCCTA/GTGTTA 1 -- int11Minor allele frequency- G:0.03EA 120
rs1485572331,2
--153028134(+) CCACTC/TTCTTG 1 -- int10--------
rs1479078901,2
C--153028184(+) ATGAT-/GAGGAGGA 1 -- int10--------
rs1428945941,2
--153028290(+) GCCAAC/TCAAAT 1 -- int10--------
rs1822402911,2
--153028305(+) GATAGA/TAATCA 1 -- int10--------
rs120429521,2
C,H--153028325(+) CCTTAG/TACTAG 1 -- int14Minor allele frequency- T:0.00NS EA 390
rs1476938411,2
--153028339(+) GTAATA/GTAAAT 1 -- int10--------
rs1144692681,2
C,F--153028423(+) TCAAAT/CGCTAA 1 -- int11Minor allele frequency- C:0.03WA 118
rs1503496161,2
C--153028572(+) AAAAT-/AAAC  
        
AAAAG
1 -- int10--------
rs1423867441,2
C--153028634(+) GATAAA/GTGACA 1 -- ut310--------

HapMap Linkage Disequilibrium report for SPRR2A (153028589 - 153030013 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for SPRR2A: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing SPRR2A
DNA2.0 Custom Variant and Variant Library Synthesis for SPRR2A

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 182267    OMIM disorders: --

6 diseases for SPRR2A:    
About MalaCards
anus cancer    esophageal squamous cell carcinoma    sjogren's syndrome    psoriasis
esophagitis    squamous cell carcinoma


SPRR2A for disorders           About GeneDecksing

1 Novoseek inferred disease relationship for SPRR2A gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
cancer 0 1 10773884 (1)


Export disorders for SPRR2A 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 SPRR2A gene, integrated from 10 sources (see all 28):
(articles sorted by number of sources associating them with SPRR2A)
    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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. Characterization of the human spr2 promoter: induction after UV irradiation or TPA treatment and regulation during differentiation of cultured primary keratinocytes. (PubMed id 2388825)1, 2 Gibbs S.... Backendorf C. (Nucleic Acids Res. 1990)
  5. Involvement of a nuclear matrix association region in the regulation of the SPRR2A keratinocyte terminal differentiation marker. (PubMed id 9826750)1, 9 Fischer D.F....Backendorf C. (Nucleic Acids Res. 1998)
  6. Small proline-rich proteins (SPRR) function as SH3 domain ligands, increase resistance to injury and are associated with epithelial-mesenchymal transition (EMT) in cholangiocytes. (PubMed id 18155796)1, 9 Demetris A.J....Wu T. (J. Hepatol. 2008)
  7. Distinct functional interactions of human Skn-1 isoforms with Ese-1 during keratinocyte terminal differentiation. (PubMed id 12624109)1, 9 Cabral A.... Backendorf C. (J. Biol. Chem. 2003)
  8. Interdependent transcription control elements regulate the expression of the SPRR2A gene during keratinocyte terminal differentiation. (PubMed id 8816448)1, 9 Fischer D.F....Backendorf C. (Mol. Cell. Biol. 1996)
  9. SPRR2A expression in cholangiocarcinoma increases local tumor invasiveness but prevents metastasis. (PubMed id 23728799)1 Specht S....Demetris A.J. (amp 2013)
  10. SPRR2A enhances p53 deacetylation through HDAC1 and down regulates p21 promoter activity. (PubMed id 22731250)1 Mizuguchi Y....Demetris A.J. (BMC Mol. Biol. 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
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: 6700 HGNC: 11261 AceView: SPRR2A Ensembl:ENSG00000241794 euGenes: HUgn6700
ECgene: SPRR2A H-InvDB: SPRR2A

(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 SPRR2A 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 SPRR2A gene:
Search GeneIP for patents involving SPRR2A

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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 Search Tocris compounds for SPRR2A (SPR2A)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 SwitchGear 3'UTR luciferase reporter plasmids for SPRR2A
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 ThermoFisher Antibodies for SPRR2A
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPRR2A
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPRR2A
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 LSBio Antibodies in human, mouse, rat for SPRR2A
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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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