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Aliases for SPRR2D Gene

Aliases for SPRR2D Gene

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

External Ids for SPRR2D Gene

Previous GeneCards Identifiers for SPRR2D Gene

  • GC01U990158
  • GC01M149826
  • GC01M151279
  • GC01M151281
  • GC01M124375

Summaries for SPRR2D Gene

GeneCards Summary for SPRR2D Gene

SPRR2D (Small Proline Rich Protein 2D) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot for SPRR2D 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.

Additional gene information for SPRR2D 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 SPRR2D Gene

Genomics for SPRR2D Gene

GeneHancer (GH) Regulatory Elements for SPRR2D Gene

Promoters and enhancers for SPRR2D 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
GH01I153041 Promoter 1 EPDnew 550.8 +0.8 792 0.1 LEF1 CEBPG ZBTB40 FOSL1 POLR2B CTBP1 VEZF1 TRIM24 ATF7 PRDM10 GC01P153042 SPRR2D LOC105371446 SPRR1B
GH01I153632 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.6 -593.0 -593002 4.4 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 CHTOP ENSG00000271853 ENSG00000272030 S100A13 S100A1 CRTC2 UBAP2L SLC27A3 INTS3 ILF2
GH01I153032 Enhancer 0.7 ENCODE 0.4 +9.4 9372 2.6 CTCF JUN RAD21 FOSL1 SCRT2 SMC3 ZSCAN29 FOS FOSL2 IKZF2 SPRR1B LOC105371446 SPRR3 SPRR2D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPRR2D on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPRR2D gene promoter:

Genomic Locations for SPRR2D Gene

Genomic Locations for SPRR2D Gene
chr1:153,039,725-153,041,931
(GRCh38/hg38)
Size:
2,207 bases
Orientation:
Minus strand
chr1:153,012,201-153,014,407
(GRCh37/hg19)

Genomic View for SPRR2D Gene

Genes around SPRR2D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPRR2D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPRR2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPRR2D Gene

Proteins for SPRR2D Gene

  • Protein details for SPRR2D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22532-SPR2D_HUMAN
    Recommended name:
    Small proline-rich protein 2D
    Protein Accession:
    P22532
    Secondary Accessions:
    • A4QN03
    • A8K5K2
    • D3DV33
    • Q5T523
    • Q96RM3

    Protein attributes for SPRR2D Gene

    Size:
    72 amino acids
    Molecular mass:
    7905 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPRR2D Gene

Post-translational modifications for SPRR2D Gene

No Post-translational modifications

Other Protein References for SPRR2D Gene

No data available for DME Specific Peptides for SPRR2D Gene

Domains & Families for SPRR2D Gene

Gene Families for SPRR2D Gene

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

Protein Domains for SPRR2D Gene

Suggested Antigen Peptide Sequences for SPRR2D Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22532

UniProtKB/Swiss-Prot:

SPR2D_HUMAN :
  • Belongs to the cornifin (SPRR) family.
Family:
  • Belongs to the cornifin (SPRR) family.
genes like me logo Genes that share domains with SPRR2D: view

Function for SPRR2D Gene

Molecular function for SPRR2D Gene

GENATLAS Biochemistry:
small proline rich protein 2D,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.
UniProtKB/Swiss-Prot Induction:
During squamous differentiation of epidermal keratinocytes.

Gene Ontology (GO) - Molecular Function for SPRR2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IBA --
genes like me logo Genes that share ontologies with SPRR2D: view

Phenotypes for SPRR2D Gene

GenomeRNAi human phenotypes for SPRR2D:
genes like me logo Genes that share phenotypes with SPRR2D: 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 SPRR2D Gene

Localization for SPRR2D Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPRR2D 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 SPRR2D gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 2

Gene Ontology (GO) - Cellular Components for SPRR2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005737 cytoplasm IEA,IDA 3133554
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SPRR2D: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPRR2D Gene

Pathways & Interactions for SPRR2D Gene

genes like me logo Genes that share pathways with SPRR2D: view

Pathways by source for SPRR2D Gene

Interacting Proteins for SPRR2D Gene

Selected Interacting proteins: P22532-SPR2D_HUMAN for SPRR2D Gene via IID MINT

Gene Ontology (GO) - Biological Process for SPRR2D 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 IBA --
GO:0031424 keratinization IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with SPRR2D: view

No data available for SIGNOR curated interactions for SPRR2D Gene

Drugs & Compounds for SPRR2D Gene

No Compound Related Data Available

Transcripts for SPRR2D Gene

mRNA/cDNA for SPRR2D Gene

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

Unigene Clusters for SPRR2D Gene

Small proline-rich protein 2D:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPRR2D Gene

No ASD Table

Relevant External Links for SPRR2D Gene

GeneLoc Exon Structure for
SPRR2D
ECgene alternative splicing isoforms for
SPRR2D

Expression for SPRR2D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPRR2D Gene

mRNA differential expression in normal tissues according to GTEx for SPRR2D Gene

This gene is overexpressed in Esophagus - Mucosa (x28.1), Minor Salivary Gland (x10.6), Cervix - Ectocervix (x5.5), and Vagina (x5.1).

Protein differential expression in normal tissues from HIPED for SPRR2D Gene

This gene is overexpressed in Cervix (40.8), Oral epithelium (12.4), and Esophagus (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPRR2D Gene



Protein tissue co-expression partners for SPRR2D Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPRR2D Gene:

SPRR2D

SOURCE GeneReport for Unigene cluster for SPRR2D Gene:

Hs.505327

Evidence on tissue expression from TISSUES for SPRR2D Gene

  • Skin(4.5)
genes like me logo Genes that share expression patterns with SPRR2D: view

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 SPRR2D Gene

Orthologs for SPRR2D Gene

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

Orthologs for SPRR2D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPRR2D 34
  • 100 (a)
OneToOne
Species where no ortholog for SPRR2D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 SPRR2D Gene

ENSEMBL:
Gene Tree for SPRR2D (if available)
TreeFam:
Gene Tree for SPRR2D (if available)

Paralogs for SPRR2D Gene

No data available for Paralogs for SPRR2D Gene

Variants for SPRR2D Gene

Sequence variations from dbSNP and Humsavar for SPRR2D Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000734722 -- 153,041,917(-) T/G upstream_transcript_variant
rs1001191475 -- 153,041,011(-) C/T intron_variant
rs1001513669 -- 153,040,264(-) G/A coding_sequence_variant, missense_variant
rs1002200534 -- 153,039,529(-) A/G downstream_transcript_variant
rs1003089823 -- 153,042,063(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SPRR2D Gene

Variant ID Type Subtype PubMed ID
nsv547899 CNV gain 21841781

Variation tolerance for SPRR2D Gene

Residual Variation Intolerance Score: 79.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPRR2D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPRR2D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPRR2D Gene

Disorders for SPRR2D Gene

Additional Disease Information for SPRR2D

No disorders were found for SPRR2D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPRR2D Gene

Publications for SPRR2D Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  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 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. 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 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for SPRR2D Gene

Sources for SPRR2D Gene

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