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Aliases for SPRR2F Gene

Aliases for SPRR2F Gene

  • Small Proline Rich Protein 2F 2 3 5
  • Small Proline-Rich Protein 2F 2 3
  • SPR-2F 3 4

External Ids for SPRR2F Gene

Previous GeneCards Identifiers for SPRR2F Gene

  • GC01U990160
  • GC01M149828
  • GC01M151280
  • GC01M151351
  • GC01M124447

Summaries for SPRR2F Gene

GeneCards Summary for SPRR2F Gene

SPRR2F (Small Proline Rich Protein 2F) is a Protein Coding gene. Among its related pathways are Developmental Biology.

UniProtKB/Swiss-Prot for SPRR2F 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 (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPRR2F Gene

Genomics for SPRR2F Gene

Regulatory Elements for SPRR2F Gene

Enhancers for SPRR2F Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F153099 0.8 ENCODE 7.5 +13.3 13344 2.3 GTF2F1 HDAC1 ESRRA TAL1 JUN MAX RAD21 FOSL1 NCOR1 SMC3 SPRR2C SPRR1B SPRR2F SPRR2E SPRR2B
GH01F153122 1.1 Ensembl ENCODE 0.4 -10.1 -10085 2.5 TBP KLF17 YBX1 FEZF1 ZBTB40 RAD21 GLIS2 SCRT2 FOS ZNF263 SPRR2C SPRR2G LELP1 SPRR2B SPRR2F
GH01F153119 0.7 ENCODE 0.4 -6.1 -6077 0.4 LEF1 PKNOX1 ESRRA RFX1 NR2F1 NR4A1 ZEB2 DPF2 ARID1B NCOR1 SPRR2G SPRR2B SPRR2F SPRR2C
GH01F153135 0.4 ENCODE 0.3 -22.1 -22094 0.6 RFX1 SPRR2C SPRR2F
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPRR2F on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SPRR2F gene promoter:

Genomic Location for SPRR2F Gene

Chromosome:
1
Start:
153,112,114 bp from pter
End:
153,113,515 bp from pter
Size:
1,402 bases
Orientation:
Minus strand

Genomic View for SPRR2F Gene

Genes around SPRR2F on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPRR2F Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPRR2F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPRR2F Gene

Proteins for SPRR2F Gene

  • Protein details for SPRR2F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RM1-SPR2F_HUMAN
    Recommended name:
    Small proline-rich protein 2F
    Protein Accession:
    Q96RM1
    Secondary Accessions:
    • Q5T9T3

    Protein attributes for SPRR2F Gene

    Size:
    72 amino acids
    Molecular mass:
    7805 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPRR2F Gene

Post-translational modifications for SPRR2F Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPRR2F Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPRR2F Gene

Domains & Families for SPRR2F Gene

Gene Families for SPRR2F Gene

Protein Domains for SPRR2F Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPRR2F Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96RM1

UniProtKB/Swiss-Prot:

SPR2F_HUMAN :
  • Belongs to the cornifin (SPRR) family.
Family:
  • Belongs to the cornifin (SPRR) family.
genes like me logo Genes that share domains with SPRR2F: view

Function for SPRR2F Gene

Molecular function for SPRR2F Gene

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

Gene Ontology (GO) - Molecular Function for SPRR2F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IBA --
genes like me logo Genes that share ontologies with SPRR2F: view

Phenotypes for SPRR2F Gene

GenomeRNAi human phenotypes for SPRR2F:
genes like me logo Genes that share phenotypes with SPRR2F: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPRR2F Gene

Localization for SPRR2F Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPRR2F 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 SPRR2F gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 2

Gene Ontology (GO) - Cellular Components for SPRR2F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope NAS 8325635
GO:0005737 cytoplasm IEA,IBA --
genes like me logo Genes that share ontologies with SPRR2F: view

Pathways & Interactions for SPRR2F Gene

SuperPathways for SPRR2F Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with SPRR2F: view

Pathways by source for SPRR2F Gene

1 Reactome pathway for SPRR2F Gene

Interacting Proteins for SPRR2F Gene

Gene Ontology (GO) - Biological Process for SPRR2F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development NAS 8325635
GO:0018149 peptide cross-linking IBA --
GO:0030216 keratinocyte differentiation NAS 8325635
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with SPRR2F: view

No data available for SIGNOR curated interactions for SPRR2F Gene

Transcripts for SPRR2F Gene

mRNA/cDNA for SPRR2F Gene

(2) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPRR2F Gene

Small proline-rich protein 2F:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPRR2F Gene

No ASD Table

Relevant External Links for SPRR2F Gene

GeneLoc Exon Structure for
SPRR2F
ECgene alternative splicing isoforms for
SPRR2F

Expression for SPRR2F Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPRR2F Gene

mRNA differential expression in normal tissues according to GTEx for SPRR2F Gene

This gene is overexpressed in Esophagus - Mucosa (x21.9), Minor Salivary Gland (x17.9), and Ovary (x9.7).

Protein differential expression in normal tissues from HIPED for SPRR2F Gene

This gene is overexpressed in Esophagus (26.6), Fetal ovary (20.7), and Ovary (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPRR2F Gene



Protein tissue co-expression partners for SPRR2F Gene

NURSA nuclear receptor signaling pathways regulating expression of SPRR2F Gene:

SPRR2F

SOURCE GeneReport for Unigene cluster for SPRR2F Gene:

Hs.490252
genes like me logo Genes that share expression patterns with SPRR2F: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SPRR2F Gene

Orthologs for SPRR2F Gene

Evolution for SPRR2F Gene

ENSEMBL:
Gene Tree for SPRR2F (if available)
TreeFam:
Gene Tree for SPRR2F (if available)

No data available for Orthologs for SPRR2F Gene

Paralogs for SPRR2F Gene

No data available for Paralogs for SPRR2F Gene

Variants for SPRR2F Gene

Sequence variations from dbSNP and Humsavar for SPRR2F Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10157591 -- 153,114,067(+) CCCTG(G/T)GATTA intron-variant, upstream-variant-2KB
rs111226851 -- 153,112,915(+) TTCAG(C/T)GAATT intron-variant
rs111228391 -- 153,119,742(+) GACAG(C/T)TCATG upstream-variant-2KB
rs111243355 -- 153,115,085(+) TAGGT(G/T)CCCAG intron-variant, upstream-variant-2KB
rs111646644 -- 153,120,516(+) CCCCA(A/G)GATAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SPRR2F Gene

Variant ID Type Subtype PubMed ID
esv22397 CNV gain 19812545
esv3587575 CNV gain 21293372
nsv464017 CNV loss 19166990
nsv547899 CNV gain 21841781
nsv547920 CNV loss 21841781
nsv946396 CNV duplication 23825009

Variation tolerance for SPRR2F Gene

Residual Variation Intolerance Score: 67.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.85; 74.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPRR2F Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPRR2F

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPRR2F Gene

Disorders for SPRR2F Gene

Relevant External Links for SPRR2F

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPRR2F

No disorders were found for SPRR2F Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPRR2F Gene

Publications for SPRR2F Gene

  1. 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. (J. Biol. Chem. 2001) 2 3 4 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  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 64
  4. Modulation of cytokine release and gene expression by the immunosuppressive domain of gp41 of HIV-1. (PMID: 23383108) Denner J. … AkyA1z L. (PLoS ONE 2013) 3 64
  5. Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families. (PMID: 18643845) Kainu K. … Saarialho-Kere U. (Exp. Dermatol. 2009) 3 64

Products for SPRR2F Gene

Sources for SPRR2F Gene

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