Human Gene SPRR2E (ENST00000368750.8_7) from GENCODE V47lift37
  Description: small proline rich protein 2E (from RefSeq NM_001024209.4)
Gencode Transcript: ENST00000368750.8_7
Gencode Gene: ENSG00000203785.9_9
Transcript (Including UTRs)
   Position: hg19 chr1:153,065,611-153,067,002 Size: 1,392 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr1:153,066,009-153,066,227 Size: 219 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:153,065,611-153,067,002)mRNA (may differ from genome)Protein (72 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SPR2E_HUMAN
DESCRIPTION: RecName: Full=Small proline-rich protein 2E; Short=SPR-2E; AltName: Full=Small proline-rich protein II; Short=SPR-II;
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.
SUBCELLULAR LOCATION: Cytoplasm.
INDUCTION: During squamous differentiation of epidermal keratinocytes.
SIMILARITY: Belongs to the cornifin (SPRR) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 421.41 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 988.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.9062-0.192 Picture PostScript Text
3' UTR -117.20398-0.294 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026075 - SPRR/LCE

Pfam Domains:
PF14820 - Small proline-rich 2

ModBase Predicted Comparative 3D Structure on P22531
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0030280 structural constituent of epidermis

Biological Process:
GO:0008544 epidermis development
GO:0018149 peptide cross-linking
GO:0030216 keratinocyte differentiation
GO:0031424 keratinization
GO:0070268 cornification

Cellular Component:
GO:0001533 cornified envelope
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  M20030 - Human small proline rich protein (sprII) mRNA, clone 930.
BC058018 - Homo sapiens small proline-rich protein 2E, mRNA (cDNA clone IMAGE:6653118).
BC153136 - Synthetic construct Homo sapiens clone IMAGE:100016448, MGC:184316 small proline-rich protein 2E (SPRR2E) mRNA, encodes complete protein.
BC148548 - Synthetic construct Homo sapiens clone IMAGE:100015475, MGC:183052 small proline-rich protein 2E (SPRR2E) mRNA, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P22531 (Reactome details) participates in the following event(s):

R-HSA-6810937 Lamellar bodies bind the early cornified envelope
R-HSA-6814734 CDSN binds the cornified envelope
R-HSA-6814298 Late envelope proteins bind cornified envelope:CDSN
R-HSA-6814387 CASP14 cleaves filaggrin
R-HSA-6809371 Formation of the cornified envelope
R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000368750.1, ENST00000368750.2, ENST00000368750.3, ENST00000368750.4, ENST00000368750.5, ENST00000368750.6, ENST00000368750.7, NM_001024209, P22531, Q5T9T4, Q96RM2, SPR2E_HUMAN, uc318hao.1, uc318hao.2
UCSC ID: ENST00000368750.8_7
RefSeq Accession: NM_001024209.4
Protein: P22531 (aka SPR2E_HUMAN or SP2E_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.