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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 Keratinization and 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).

Additional gene information for SPRR2F Gene

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

Genomics for SPRR2F Gene

GeneHancer (GH) Regulatory Elements for SPRR2F Gene

Promoters and enhancers for SPRR2F 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
GH01I153113 Promoter 0.5 EPDnew 550.8 0.0 -20 0.1 SPRR2F SPRR2C
GH01I153094 Promoter 0.5 EPDnew 9.5 +19.0 18970 0.1 SPRR2E SPRR2B SPRR2C LELP1 SPRR2F
GH01I153099 Enhancer 0.6 ENCODE 7.5 +13.3 13343 2.3 JUN MAX CEBPB EP300 RAD21 JUND MAFF CREB1 STAT3 SMC3 SPRR2C SPRR1B SPRR2F SPRR2E SPRR2B
GH01I153122 Enhancer 1.1 Ensembl ENCODE 0.4 -10.1 -10085 2.5 CLOCK RB1 NEUROD1 KLF17 SIN3A FEZF1 YBX1 ZBTB40 RFX5 GLIS2 SPRR2C SPRR2G LELP1 SPRR2B SPRR2F
GH01I153119 Enhancer 0.6 ENCODE 0.4 -6.1 -6076 0.4 MEIS2 LEF1 PKNOX1 RFX1 SOX6 NR4A1 CBFA2T3 DPF2 ZEB2 CTBP1 SPRR2G SPRR2B SPRR2F SPRR2C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPRR2F on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SPRR2F Gene

Genomic Locations for SPRR2F Gene
chr1:153,112,114-153,113,515
(GRCh38/hg38)
Size:
1,402 bases
Orientation:
Minus strand
chr1:153,084,590-153,085,991
(GRCh37/hg19)

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

No Post-translational modifications

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

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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
cytosol 5
plasma membrane 3
extracellular 2

Gene Ontology (GO) - Cellular Components for SPRR2F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SPRR2F: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPRR2F Gene

Pathways & Interactions for SPRR2F Gene

genes like me logo Genes that share pathways with SPRR2F: view

Pathways by source 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 --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with SPRR2F: view

No data available for SIGNOR curated interactions for SPRR2F Gene

Drugs & Compounds for SPRR2F Gene

No Compound Related Data Available

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:

Clone 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 CGAP 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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 Variation AA Info Type
rs1000356623 -- 153,118,736(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000765575 -- 153,113,794(-) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000967779 -- 153,114,025(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001133078 -- 153,120,276(-) T/A upstream_transcript_variant
rs1001239868 -- 153,119,288(-) A/G genic_upstream_transcript_variant, intron_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 (The Journal of biological chemistry 2001) 2 3 4 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  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 58
  4. Modulation of cytokine release and gene expression by the immunosuppressive domain of gp41 of HIV-1. (PMID: 23383108) Denner J … Akyüz L (PloS one 2013) 3 58
  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 (Experimental dermatology 2009) 3 58

Products for SPRR2F Gene

Sources for SPRR2F Gene

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