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 agains... See more...

Aliases for SPRR2E Gene

Aliases for SPRR2E Gene

  • Small Proline Rich Protein 2E 2 3 5
  • Small Proline-Rich Protein 2E 2 3 4
  • Small Proline-Rich Protein II 3 4
  • SPR-2E 3 4
  • SPR-II 3 4
  • SPRR2E 5

External Ids for SPRR2E Gene

Previous GeneCards Identifiers for SPRR2E Gene

  • GC01U990159
  • GC01M149827
  • GC01M151333
  • GC01M151337
  • GC01M153065
  • GC01M124428

Summaries for SPRR2E Gene

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. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is SPRR2B.

UniProtKB/Swiss-Prot Summary for SPRR2E Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPRR2E Gene

Genomics for SPRR2E Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPRR2E Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J153119 Promoter/Enhancer 1 EPDnew ENCODE 250.4 -13.4 -13407 0.4 NCOR1 ZEB2 RFX1 MEIS2 DPF2 ARID1B CTBP1 SOX6 ZNF24 PKNOX1 SPRR2F SPRR2E SPRR2G SPRR2B piR-50968-009 HSALNG0007267
GH01J153141 Promoter 0.4 EPDnew 250.3 -35.3 -35293 0.1 SRF SPRR2C lnc-SPRR2G-1 SPRR2E piR-50968-009 SPRR2F SPRR2G
GH01J153106 Promoter 0.3 EPDnew 250.7 0.0 -40 0.1 SPRR2E SPRR2C SPRR2F HSALNG0007267
GH01J153094 Promoter 0.3 EPDnew 250.4 +11.6 11639 0.1 HSALNG0007268 SPRR2E SPRR2B SPRR2C LELP1 SPRR2F HSALNG0007267
GH01J153099 Enhancer 0.7 Ensembl ENCODE 7.1 +6.0 6012 2.3 CEBPB MAX EP300 RAD21 SMC3 STAT3 TCF7L2 JUND MAFF FOS SPRR2C SPRR1B SPRR2F SPRR2E HSALNG0007268 SPRR2B HSALNG0007267
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPRR2E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPRR2E

Top Transcription factor binding sites by QIAGEN in the SPRR2E gene promoter:
  • HOXA5
  • RORalpha2
  • TBP
  • Zic1
  • Zic3

Genomic Locations for SPRR2E Gene

Latest Assembly
chr1:153,093,135-153,106,184
(GRCh38/hg38)
Size:
13,050 bases
Orientation:
Minus strand

Previous Assembly
chr1:153,065,611-153,067,002
(GRCh37/hg19 by Entrez Gene)
Size:
1,392 bases
Orientation:
Minus strand

chr1:153,065,611-153,078,660
(GRCh37/hg19 by Ensembl)
Size:
13,050 bases
Orientation:
Minus strand

Genomic View for SPRR2E Gene

Genes around SPRR2E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPRR2E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPRR2E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPRR2E Gene

Proteins for SPRR2E Gene

  • Protein details for SPRR2E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22531-SPR2E_HUMAN
    Recommended name:
    Small proline-rich protein 2E
    Protein Accession:
    P22531
    Secondary Accessions:
    • Q5T9T4
    • Q96RM2

    Protein attributes for SPRR2E Gene

    Size:
    72 amino acids
    Molecular mass:
    7855 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPRR2E Gene

Post-translational modifications for SPRR2E Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPRR2E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPRR2E Gene

Domains & Families for SPRR2E Gene

Gene Families for SPRR2E Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPRR2E Gene

InterPro:
Blocks:
  • Small proline-rich protein signature

Suggested Antigen Peptide Sequences for SPRR2E Gene

GenScript: Design optimal peptide antigens:
  • Small proline-rich protein II (SPR2E_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22531

UniProtKB/Swiss-Prot:

SPR2E_HUMAN :
  • Belongs to the cornifin (SPRR) family.
Family:
  • Belongs to the cornifin (SPRR) family.
genes like me logo Genes that share domains with SPRR2E: view

Function for SPRR2E Gene

Molecular function for SPRR2E Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
During squamous differentiation of epidermal keratinocytes.
GENATLAS Biochemistry:
small proline rich protein 2E,precursor of cornified cell envelope,cornifin,clustered in the epidermal differentiation complex (EDC)

Phenotypes From GWAS Catalog for SPRR2E Gene

Gene Ontology (GO) - Molecular Function for SPRR2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 3133554
GO:0005515 protein binding IPI 9722562
GO:0030280 structural constituent of epidermis IDA 7543090
genes like me logo Genes that share ontologies with SPRR2E: view

Phenotypes for SPRR2E Gene

genes like me logo Genes that share phenotypes with SPRR2E: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPRR2E

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPRR2E Gene

Localization for SPRR2E Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPRR2E Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPRR2E gene
Compartment Confidence
plasma membrane 4
cytosol 4
extracellular 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SPRR2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA,TAS --
GO:0005737 cytoplasm IEA,IDA 3133554
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SPRR2E: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPRR2E Gene

Pathways & Interactions for SPRR2E Gene

PathCards logo

SuperPathways for SPRR2E Gene

genes like me logo Genes that share pathways with SPRR2E: view

Pathways by source for SPRR2E Gene

Gene Ontology (GO) - Biological Process for SPRR2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development NAS 8325635
GO:0018149 peptide cross-linking IDA 7543090
GO:0031424 keratinization IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with SPRR2E: view

No data available for SIGNOR curated interactions for SPRR2E Gene

Drugs & Compounds for SPRR2E Gene

No Compound Related Data Available

Transcripts for SPRR2E Gene

mRNA/cDNA for SPRR2E Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPRR2E

Alternative Splicing Database (ASD) splice patterns (SP) for SPRR2E Gene

No ASD Table

Relevant External Links for SPRR2E Gene

GeneLoc Exon Structure for
SPRR2E

Expression for SPRR2E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPRR2E Gene

mRNA differential expression in normal tissues according to GTEx for SPRR2E Gene

This gene is overexpressed in Esophagus - Mucosa (x21.4), Skin - Sun Exposed (Lower leg) (x12.0), Skin - Not Sun Exposed (Suprapubic) (x5.9), Minor Salivary Gland (x5.3), and Cervix - Ectocervix (x4.3).

Protein differential expression in normal tissues from HIPED for SPRR2E Gene

This gene is overexpressed in Cervix (67.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPRR2E Gene



Protein tissue co-expression partners for SPRR2E Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPRR2E

SOURCE GeneReport for Unigene cluster for SPRR2E Gene:

Hs.568518

Evidence on tissue expression from TISSUES for SPRR2E Gene

  • Skin(4.5)
genes like me logo Genes that share expression patterns with SPRR2E: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPRR2E Gene

Orthologs for SPRR2E Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for SPRR2E Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPRR2E 30
  • 100 (a)
OneToOne
Species where no ortholog for SPRR2E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SPRR2E Gene

ENSEMBL:
Gene Tree for SPRR2E (if available)
TreeFam:
Gene Tree for SPRR2E (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPRR2E: view image
Alliance of Genome Resources:
Additional Orthologs for SPRR2E

Paralogs for SPRR2E Gene

Paralogs for SPRR2E Gene

genes like me logo Genes that share paralogs with SPRR2E: view

Variants for SPRR2E Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPRR2E Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SPRR2E Gene

Variant ID Type Subtype PubMed ID
esv2718239 CNV deletion 23290073
esv3587573 CNV loss 21293372
esv3587574 CNV gain 21293372
nsv464017 CNV loss 19166990
nsv547899 CNV gain 21841781
nsv547920 CNV loss 21841781
nsv946395 CNV duplication 23825009
nsv957012 CNV deletion 24416366

Variation tolerance for SPRR2E Gene

Residual Variation Intolerance Score: 77.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPRR2E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPRR2E
Leiden Open Variation Database (LOVD)
SPRR2E

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPRR2E Gene

Disorders for SPRR2E Gene

Additional Disease Information for SPRR2E

No disorders were found for SPRR2E Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPRR2E Gene

Publications for SPRR2E Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. Structural organization and regulation of the small proline-rich family of cornified envelope precursors suggest a role in adaptive barrier function. (PMID: 11279051) Cabral A … Backendorf C (The Journal of biological chemistry 2001) 3 4
  3. Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. (PMID: 8325635) Gibbs S … Backendorf C (Genomics 1993) 2 3
  4. Isolation, characterization, and UV-stimulated expression of two families of genes encoding polypeptides of related structure in human epidermal keratinocytes. (PMID: 3133554) Kartasova T … van de Putte P (Molecular and cellular biology 1988) 3 4
  5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3

Products for SPRR2E Gene

Sources for SPRR2E Gene