Aliases for SPRR3 Gene

Aliases for SPRR3 Gene

  • Small Proline Rich Protein 3 2 3 5
  • Small Proline-Rich Protein 3 2 3 4
  • 22 KDa Pancornulin 3 4
  • Cornifin Beta 3 4
  • Esophagin 3 4
  • SPRR3 5
  • SPRC 4

External Ids for SPRR3 Gene

Previous GeneCards Identifiers for SPRR3 Gene

  • GC01P150790
  • GC01P148756
  • GC01P149749
  • GC01P150190
  • GC01P149787
  • GC01P151240
  • GC01P152974
  • GC01P124337

Summaries for SPRR3 Gene

GeneCards Summary for SPRR3 Gene

SPRR3 (Small Proline Rich Protein 3) is a Protein Coding gene. Diseases associated with SPRR3 include Esophageal Cancer and Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is SPRR1B.

UniProtKB/Swiss-Prot Summary for SPRR3 Gene

Gene Wiki entry for SPRR3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPRR3 Gene

Genomics for SPRR3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPRR3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J153001 Promoter 0.6 EPDnew 250.7 0.0 -17 0.1 ATF3 CREB1 ATF7 HSALNG0007261 SPRR3 lnc-SPRR1A-2 NONHSAG002962.2 SPRR1A
GH01J153000 Enhancer 0.3 Ensembl 250.7 -1.4 -1446 0.2 ZNF512 SPRR3 lnc-SPRR1A-2 ENSG00000234262 NONHSAG002962.2 SPRR1A
GH01J153032 Enhancer 0.9 Ensembl ENCODE 10.3 +30.8 30812 2.6 REST CEBPB CTCF RAD21 SMC3 JUND IKZF1 TCF7 HLF MNT SPRR1B HSALNG0007266 ENSG00000234262 SPRR3 HSALNG0007267 SPRR2D
GH01J152953 Enhancer 0.7 Ensembl ENCODE 10 -47.5 -47485 2 ZNF217 CTBP1 JUND SMARCE1 DPF2 CREB1 ATF3 FOS MTA1 ENSG00000234262 SPRR1A SPRR3 S100A16 LINC01527 SPRR5 HSALNG0007256-001 HSALNG0007256-002 SPRR4
GH01J153596 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.5 +597.9 597854 6.8 BCLAF1 SP1 POLR2A NFIC BCL11A SIN3A ETS1 PRDM1 IRF4 EBF1 lnc-S100A16-2 S100A13 S100A16 SPRR3 RF00017-305 ENSG00000285867 HSALNG0007319 S100A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPRR3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPRR3

Top Transcription factor binding sites by QIAGEN in the SPRR3 gene promoter:
  • AREB6
  • C/EBPalpha
  • E47
  • Hand1
  • Ik-1
  • Ik-3
  • LCR-F1
  • p300
  • ZID

Genomic Locations for SPRR3 Gene

Latest Assembly
2,110 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
2,108 bases
Plus strand

(GRCh37/hg19 by Ensembl)
2,110 bases
Plus strand

Genomic View for SPRR3 Gene

Genes around SPRR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPRR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPRR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPRR3 Gene

Proteins for SPRR3 Gene

  • Protein details for SPRR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Small proline-rich protein 3
    Protein Accession:
    Secondary Accessions:
    • A5YKK8
    • B2R4G8
    • D3DV32
    • O75597
    • Q4ZGI7
    • Q5T525
    • Q8NET7
    • Q9UDG3

    Protein attributes for SPRR3 Gene

    169 amino acids
    Molecular mass:
    18154 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPRR3 Gene

Post-translational modifications for SPRR3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPRR3 Gene

Antibodies for research

  • Abcam antibodies for SPRR3
  • Boster Bio Antibodies for SPRR3

No data available for DME Specific Peptides for SPRR3 Gene

Domains & Families for SPRR3 Gene

Gene Families for SPRR3 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for SPRR3 Gene

  • Small proline-rich protein signature
  • Cornifin (SPRR)

Suggested Antigen Peptide Sequences for SPRR3 Gene

GenScript: Design optimal peptide antigens:
  • Esophagin (SPRR3_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cornifin (SPRR) family.
  • Belongs to the cornifin (SPRR) family.
genes like me logo Genes that share domains with SPRR3: view

Function for SPRR3 Gene

Molecular function for SPRR3 Gene

UniProtKB/Swiss-Prot Function:
Cross-linked envelope protein of keratinocytes.
UniProtKB/Swiss-Prot Induction:
During squamous differentiation of epidermal keratinocytes.
GENATLAS Biochemistry:
small proline rich protein 3,precursor of cornified cell envelope,cornifin,clustered in the epidermal differentiation complex (EDC)

Phenotypes From GWAS Catalog for SPRR3 Gene

Gene Ontology (GO) - Molecular Function for SPRR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 9889002
GO:0005515 protein binding IPI 10510474
genes like me logo Genes that share ontologies with SPRR3: view
genes like me logo Genes that share phenotypes with SPRR3: view

Animal Models for SPRR3 Gene

MGI Knock Outs for SPRR3:
  • Sprr3 Sprr3<tm1.1Ppy>
  • Sprr3 Sprr3<tm1.1(KOMP)Vlcg>

miRNA for SPRR3 Gene

miRTarBase miRNAs that target SPRR3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPRR3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPRR3 Gene

Localization for SPRR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPRR3 Gene


Subcellular locations from

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 SPRR3 gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 4
golgi apparatus 4
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SPRR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA 19211270
GO:0005829 cytosol TAS --
GO:0048471 perinuclear region of cytoplasm IDA 19211270
genes like me logo Genes that share ontologies with SPRR3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPRR3 Gene

Pathways & Interactions for SPRR3 Gene

PathCards logo

SuperPathways for SPRR3 Gene

genes like me logo Genes that share pathways with SPRR3: view

Pathways by source for SPRR3 Gene

Gene Ontology (GO) - Biological Process for SPRR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development NAS 8325635
GO:0018149 peptide cross-linking IEA --
GO:0030216 keratinocyte differentiation NAS 8325635
GO:0031424 keratinization IEA --
GO:0042060 wound healing TAS 10510474
genes like me logo Genes that share ontologies with SPRR3: view

No data available for SIGNOR curated interactions for SPRR3 Gene

Drugs & Compounds for SPRR3 Gene

(2) Drugs for SPRR3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SPRR3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SPRR3: view

Transcripts for SPRR3 Gene

mRNA/cDNA for SPRR3 Gene

10 NCBI additional mRNA sequence :
4 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 SPRR3

Alternative Splicing Database (ASD) splice patterns (SP) for SPRR3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1: -
SP3: - -

Relevant External Links for SPRR3 Gene

GeneLoc Exon Structure for

Expression for SPRR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPRR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPRR3 Gene

This gene is overexpressed in Esophagus - Mucosa (x29.1), Vagina (x10.2), Cervix - Ectocervix (x8.8), and Minor Salivary Gland (x4.6).

Protein differential expression in normal tissues from HIPED for SPRR3 Gene

This gene is overexpressed in Cervix (47.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPRR3 Gene

Protein tissue co-expression partners for SPRR3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPRR3

SOURCE GeneReport for Unigene cluster for SPRR3 Gene:


Evidence on tissue expression from TISSUES for SPRR3 Gene

  • Skin(4.4)
  • Muscle(4.3)
  • Saliva(4.2)
  • Blood(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with SPRR3: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPRR3 Gene

Orthologs for SPRR3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPRR3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SPRR3 29 30
  • 98.55 (n)
(Canis familiaris)
Mammalia LOC100685649 29
  • 77.25 (n)
SPRR3 30
  • 37 (a)
(Mus musculus)
Mammalia Sprr3 29 16 30
  • 68.86 (n)
(Rattus norvegicus)
Mammalia Sprr3 29
  • 68.04 (n)
(Bos Taurus)
Mammalia SPRR3 30
  • 67 (a)
(Monodelphis domestica)
Mammalia -- 30
  • 57 (a)
Species where no ortholog for SPRR3 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 SPRR3 Gene

Gene Tree for SPRR3 (if available)
Gene Tree for SPRR3 (if available)
Evolutionary constrained regions (ECRs) for SPRR3: view image
Alliance of Genome Resources:
Additional Orthologs for SPRR3

Paralogs for SPRR3 Gene

(2) SIMAP similar genes for SPRR3 Gene using alignment to 3 proteins:

  • B1AN48_HUMAN
  • F5GZ12_HUMAN
genes like me logo Genes that share paralogs with SPRR3: view

Variants for SPRR3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPRR3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs139275808 Benign: not provided 153,003,460(+) C/G
NM_001097589.2(SPRR3):c.440C>G (p.Thr147Arg)
rs61733607 Benign: not provided 153,003,272(+) G/A
NM_001097589.2(SPRR3):c.252G>A (p.Lys84=)
rs72704847 Benign: not provided 153,003,334(+) G/A
NM_001097589.2(SPRR3):c.314G>A (p.Gly105Asp)
rs763170354 Benign: not provided 153,003,199(+) AGGTCCCT/A
NM_001097589.2(SPRR3):c.181_187del (p.Val61fs)
rs779153584 Likely Benign: not provided 153,003,208(+) AGCCAGGCTGTACCAA
NM_001097589.2(SPRR3):c.189_205del (p.Glu63fs)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPRR3 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 SPRR3 Gene

Variant ID Type Subtype PubMed ID
nsv547899 CNV gain 21841781
nsv831592 CNV gain 17160897
nsv998873 CNV gain 25217958

Variation tolerance for SPRR3 Gene

Residual Variation Intolerance Score: 69.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.03; 75.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPRR3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPRR3 Gene

Disorders for SPRR3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SPRR3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
esophageal cancer
  • esophageal cancer, somatic
dystonia, dopa-responsive, due to sepiapterin reductase deficiency
  • sepiapterin reductase deficiency; srd
skin disease
  • genodermatosis
- elite association - COSMIC cancer census association via MalaCards
Search SPRR3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPRR3

genes like me logo Genes that share disorders with SPRR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPRR3 Gene

Publications for SPRR3 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 22
  2. Esophagin cDNA cloning and characterization: a tissue-specific member of the small proline-rich protein family that is not expressed in esophageal tumors. (PMID: 8809402) Abraham JM … Meltzer SJ (Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research 1996) 3 4 22
  3. Characterization of two isoforms of human SPRR3 from saliva of preterm human newborn and autoptic fetal oral mucosa, parotid and submandibular gland samples. (PMID: 20599699) Manconi B … Messana I (Biochemical and biophysical research communications 2010) 3 4
  4. Regulation of the atheroma-enriched protein, SPRR3, in vascular smooth muscle cells through cyclic strain is dependent on integrin alpha1beta1/collagen interaction. (PMID: 18832573) Pyle AL … Young PP (The American journal of pathology 2008) 3 22
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for SPRR3 Gene

Sources for SPRR3 Gene