Aliases for SPRR2F Gene

Aliases for SPRR2F Gene

  • Small Proline Rich Protein 2F 2 3 5
  • Small Proline-Rich Protein 2F 2 3 4
  • SPR-2F 3 4
  • SPRR2F 5

External Ids for SPRR2F Gene

Previous GeneCards Identifiers for SPRR2F Gene

  • GC01U990160
  • GC01M149828
  • GC01M151280
  • GC01M151351
  • GC01M153084
  • GC01M124447
  • GC01M153113

Summaries for SPRR2F Gene

GeneCards Summary for SPRR2F Gene

SPRR2F (Small Proline Rich Protein 2F) is a Protein Coding gene. Diseases associated with SPRR2F include Adenine Phosphoribosyltransferase Deficiency. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot Summary 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPRR2F Gene

Genomics for SPRR2F Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH01J153119 Promoter/Enhancer 1 EPDnew ENCODE 250.7 -0.1 -123 0.4 NCOR1 ZEB2 RFX1 MEIS2 DPF2 ARID1B CTBP1 SOX6 ZNF24 PKNOX1 SPRR2F SPRR2E SPRR2G SPRR2B piR-50968-009 HSALNG0007267
GH01J153099 Enhancer 0.7 Ensembl ENCODE 7.5 +19.3 19296 2.3 CEBPB MAX EP300 RAD21 SMC3 STAT3 TCF7L2 JUND MAFF FOS SPRR2C SPRR1B SPRR2F SPRR2E HSALNG0007268 SPRR2B HSALNG0007267
GH01J153094 Promoter 0.3 EPDnew 9.4 +24.9 24923 0.1 HSALNG0007268 SPRR2E SPRR2B SPRR2C LELP1 SPRR2F HSALNG0007267
GH01J153106 Promoter 0.3 EPDnew 8.4 +13.2 13244 0.1 SPRR2E SPRR2C SPRR2F HSALNG0007267
GH01J153122 Enhancer 0.9 ENCODE 0.7 -4.1 -4132 2.5 JUND POLR2A ZIC2 ZBTB10 ETS1 FEZF1 SIX4 ZNF341 MAX ZBTB7B piR-50968-009 SPRR2C SPRR2G LELP1 SPRR2B SPRR2F 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 SPRR2F on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPRR2F

Top Transcription factor binding sites by QIAGEN in the SPRR2F gene promoter:
  • TBP
  • Zic1
  • Zic3

Genomic Locations for SPRR2F Gene

Latest Assembly
chr1:153,112,121-153,119,468
(GRCh38/hg38)
Size:
7,348 bases
Orientation:
Minus strand

Previous Assembly
chr1:153,084,597-153,091,944
(GRCh37/hg19 by Entrez Gene)
Size:
7,348 bases
Orientation:
Minus strand

chr1:153,084,590-153,085,991
(GRCh37/hg19 by Ensembl)
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

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

Protein Domains for SPRR2F Gene

InterPro:

Suggested Antigen Peptide Sequences for SPRR2F Gene

GenScript: Design optimal peptide antigens:
  • Small proline-rich protein 2F (SPR2F_HUMAN)

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

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.
GENATLAS Biochemistry:
small proline rich protein 2F,precursor of cornified cell envelope,cornifin,clustered in the epidermal differentiation complex (EDC)

Phenotypes From GWAS Catalog for SPRR2F Gene

Phenotypes for SPRR2F Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPRR2F

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 4
cytosol 4
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SPRR2F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope NAS,TAS --
GO:0005737 cytoplasm IEA --
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

PathCards logo

SuperPathways for SPRR2F Gene

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

Pathways by source 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: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 :
1 NCBI additional mRNA sequence :
1 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 SPRR2F

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

No ASD Table

Relevant External Links for SPRR2F Gene

GeneLoc Exon Structure 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

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

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)
Aminode:
Evolutionary constrained regions (ECRs) for SPRR2F: view image
Alliance of Genome Resources:
Additional Orthologs for SPRR2F

No data available for Orthologs for SPRR2F Gene

Paralogs for SPRR2F Gene

No data available for Paralogs for SPRR2F Gene

Variants for SPRR2F Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPRR2F 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 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
Leiden Open Variation Database (LOVD)
SPRR2F

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 SPRR2F Gene

Disorders for SPRR2F Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPRR2F Gene - From: COP

Disorder Aliases PubMed IDs
adenine phosphoribosyltransferase deficiency
  • aprtd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPRR2F

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

No data available for 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
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 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. Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes. (PMID: 31682009) Wang Y … Tatakis DN (Journal of periodontology 2020) 3
  5. The p300/YY1/miR-500a-5p/HDAC2 signalling axis regulates cell proliferation in human colorectal cancer. (PMID: 30737378) Tang W … Wang J (Nature communications 2019) 3

Products for SPRR2F Gene

Sources for SPRR2F Gene