Aliases for SPRR2B Gene

Aliases for SPRR2B Gene

  • Small Proline Rich Protein 2B 2 3 5
  • Small Proline-Rich Protein 2B 2 3 4
  • SPR-2B 3 4
  • SPRR2B 5

External Ids for SPRR2B Gene

Previous GeneCards Identifiers for SPRR2B Gene

  • GC01M150859
  • GC01M148825
  • GC01M149818
  • GC01M150259
  • GC01M149825
  • GC01M151278
  • GC01M151309
  • GC01M153029
  • GC01M124405

Summaries for SPRR2B Gene

GeneCards Summary for SPRR2B Gene

SPRR2B (Small Proline Rich Protein 2B) is a Protein Coding gene. Diseases associated with SPRR2B include Trichothiodystrophy 1, Photosensitive and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is SPRR2E.

UniProtKB/Swiss-Prot Summary for SPRR2B 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 Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPRR2B Gene

Genomics for SPRR2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPRR2B 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 6.9 -48.0 -47980 0.4 NCOR1 ZEB2 RFX1 MEIS2 DPF2 ARID1B CTBP1 SOX6 ZNF24 PKNOX1 SPRR2F SPRR2E SPRR2G SPRR2B piR-50968-009 HSALNG0007267
GH01J153122 Enhancer 0.9 ENCODE 6.9 -52.0 -51989 2.5 JUND POLR2A ZIC2 ZBTB10 ETS1 FEZF1 SIX4 ZNF341 MAX ZBTB7B piR-50968-009 SPRR2C SPRR2G LELP1 SPRR2B SPRR2F HSALNG0007267
GH01J153094 Promoter 0.3 EPDnew 10.7 -22.9 -22934 0.1 HSALNG0007268 SPRR2E SPRR2B SPRR2C LELP1 SPRR2F HSALNG0007267
GH01J153135 Enhancer 0.6 Ensembl ENCODE 5.1 -64.1 -64144 0.9 RFX1 NANOG BMI1 SPRR2C SPRR2B lnc-SPRR2G-1 piR-50968-009 SPRR2F SPRR2G
GH01J153134 Enhancer 0.2 Ensembl 6.9 -63.4 -63390 0.4 SPRR2B SPRR2C lnc-SPRR2G-1 piR-50968-009 SPRR2F SPRR2G
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPRR2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPRR2B

Top Transcription factor binding sites by QIAGEN in the SPRR2B gene promoter:
  • c-Myb
  • C/EBPbeta
  • Nkx6-1
  • p53
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • RORalpha2

Genomic Locations for SPRR2B Gene

Latest Assembly
chr1:153,070,224-153,071,611
(GRCh38/hg38)
Size:
1,388 bases
Orientation:
Minus strand

Previous Assembly
chr1:153,042,702-153,044,087
(GRCh37/hg19 by Entrez Gene)
Size:
1,386 bases
Orientation:
Minus strand

chr1:153,042,700-153,113,927
(GRCh37/hg19 by Ensembl)
Size:
71,228 bases
Orientation:
Minus strand

Genomic View for SPRR2B Gene

Genes around SPRR2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPRR2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPRR2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPRR2B Gene

Proteins for SPRR2B Gene

  • Protein details for SPRR2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35325-SPR2B_HUMAN
    Recommended name:
    Small proline-rich protein 2B
    Protein Accession:
    P35325
    Secondary Accessions:
    • Q5T528

    Protein attributes for SPRR2B Gene

    Size:
    72 amino acids
    Molecular mass:
    7975 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPRR2B Gene

Post-translational modifications for SPRR2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPRR2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPRR2B Gene

Domains & Families for SPRR2B Gene

Gene Families for SPRR2B Gene

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

Protein Domains for SPRR2B Gene

InterPro:
Blocks:
  • Small proline-rich protein signature

Suggested Antigen Peptide Sequences for SPRR2B Gene

GenScript: Design optimal peptide antigens:
  • Small proline-rich protein 2B (SPR2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35325

UniProtKB/Swiss-Prot:

SPR2B_HUMAN :
  • Belongs to the cornifin (SPRR) family.
Family:
  • Belongs to the cornifin (SPRR) family.
genes like me logo Genes that share domains with SPRR2B: view

Function for SPRR2B Gene

Molecular function for SPRR2B 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:
By UV irradiation and carcinogenic agents. During squamous differentiation of epidermal keratinocytes.
GENATLAS Biochemistry:
small proline rich protein 2B,precursor of cornified cell envelope,cornifin,clustered in the epidermal differentiation complex (EDC)

Phenotypes From GWAS Catalog for SPRR2B Gene

genes like me logo Genes that share phenotypes with SPRR2B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPRR2B

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 SPRR2B Gene

Localization for SPRR2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPRR2B 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 SPRR2B gene
Compartment Confidence
plasma membrane 4
cytosol 4
extracellular 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SPRR2B 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 SPRR2B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPRR2B Gene

Pathways & Interactions for SPRR2B Gene

PathCards logo

SuperPathways for SPRR2B Gene

genes like me logo Genes that share pathways with SPRR2B: view

Pathways by source for SPRR2B Gene

Gene Ontology (GO) - Biological Process for SPRR2B 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 SPRR2B: view

No data available for SIGNOR curated interactions for SPRR2B Gene

Drugs & Compounds for SPRR2B Gene

No Compound Related Data Available

Transcripts for SPRR2B Gene

mRNA/cDNA for SPRR2B Gene

2 REFSEQ mRNAs :
2 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 SPRR2B

Alternative Splicing Database (ASD) splice patterns (SP) for SPRR2B Gene

No ASD Table

Relevant External Links for SPRR2B Gene

GeneLoc Exon Structure for
SPRR2B

Expression for SPRR2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPRR2B Gene

mRNA differential expression in normal tissues according to GTEx for SPRR2B Gene

This gene is overexpressed in Esophagus - Mucosa (x23.9), Skin - Sun Exposed (Lower leg) (x8.3), Minor Salivary Gland (x7.3), Skin - Not Sun Exposed (Suprapubic) (x4.3), and Cervix - Ectocervix (x4.0).

Protein differential expression in normal tissues from HIPED for SPRR2B Gene

This gene is overexpressed in Cervix (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPRR2B Gene



Protein tissue co-expression partners for SPRR2B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPRR2B

SOURCE GeneReport for Unigene cluster for SPRR2B Gene:

Hs.568239

mRNA Expression by UniProt/SwissProt for SPRR2B Gene:

P35325-SPR2B_HUMAN
Tissue specificity: Suprabasal layers of squamous-differentiated tissues such as epidermis, esophagus, tongue and trachea.

Evidence on tissue expression from TISSUES for SPRR2B Gene

  • Skin(4.6)
genes like me logo Genes that share expression patterns with SPRR2B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPRR2B Gene

Orthologs for SPRR2B Gene

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

Orthologs for SPRR2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPRR2B 30
  • 100 (a)
OneToOne
Species where no ortholog for SPRR2B 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 SPRR2B Gene

ENSEMBL:
Gene Tree for SPRR2B (if available)
TreeFam:
Gene Tree for SPRR2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPRR2B: view image
Alliance of Genome Resources:
Additional Orthologs for SPRR2B

Paralogs for SPRR2B Gene

Paralogs for SPRR2B Gene

genes like me logo Genes that share paralogs with SPRR2B: view

Variants for SPRR2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPRR2B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1048268 -- p.Pro39Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPRR2B 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 SPRR2B Gene

Variant ID Type Subtype PubMed ID
esv2718239 CNV deletion 23290073
nsv1121783 CNV deletion 24896259
nsv464017 CNV loss 19166990
nsv547899 CNV gain 21841781
nsv547920 CNV loss 21841781
nsv946395 CNV duplication 23825009
nsv957012 CNV deletion 24416366

Variation tolerance for SPRR2B Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPRR2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPRR2B
Leiden Open Variation Database (LOVD)
SPRR2B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPRR2B Gene

Disorders for SPRR2B Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPRR2B Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPRR2B

genes like me logo Genes that share disorders with SPRR2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPRR2B Gene

Publications for SPRR2B Gene

  1. 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
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. Infection with Human Papillomavirus alters expression of the small proline rich proteins 2 and 3. (PMID: 14748073) Lehr E … Brown D (Journal of medical virology 2004) 3 22
  4. 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
  5. Small proline-rich protein 2B drives stress-dependent p53 degradation and fibroblast proliferation in heart failure. (PMID: 29581288) Burke RM … Small EM (Proceedings of the National Academy of Sciences of the United States of America 2018) 3

Products for SPRR2B Gene

Sources for SPRR2B Gene