This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008] See more...

Aliases for SPP2 Gene

Aliases for SPP2 Gene

  • Secreted Phosphoprotein 2 2 3 4 5
  • SPP24 2 3 4
  • Secreted Phosphoprotein 2, 24kDa 2 3
  • Secreted Phosphoprotein 2, 24kD 2 3
  • Secreted Phosphoprotein 24 3 4
  • SPP-24 3
  • Spp-24 4
  • SPP2 5

External Ids for SPP2 Gene

Previous GeneCards Identifiers for SPP2 Gene

  • GC02P232967
  • GC02P233641
  • GC02P234975
  • GC02P235246
  • GC02P234741
  • GC02P234624
  • GC02P226759

Summaries for SPP2 Gene

Entrez Gene Summary for SPP2 Gene

  • This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008]

GeneCards Summary for SPP2 Gene

SPP2 (Secreted Phosphoprotein 2) is a Protein Coding gene. Diseases associated with SPP2 include Gerstmann-Straussler Disease and Retinitis Pigmentosa. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include endopeptidase inhibitor activity and cysteine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot Summary for SPP2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPP2 Gene

Genomics for SPP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPP2 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
GH02J234050 Promoter 0.8 EPDnew 600.7 +0.1 55 0.1 SP1 FOXA2 YY1 ZBTB33 JUND NR2F2 RAD21 HNF4A RXRA MAX SPP2 lnc-SPP2-4 ARL4C
GH02J234051 Enhancer 0.4 Ensembl 600.7 +0.8 834 1 MAX TAF1 SP1 SPP2 lnc-SPP2-4 ARL4C
GH02J234420 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 9.7 +374.4 374389 9.8 CREB1 GATAD2A ATF7 TEAD4 ZNF7 IRF2 POLR2A MNT SOX13 CEBPB lnc-SPP2-9 ARL4C SPP2 piR-37097-056
GH02J234333 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +284.3 284334 4 ZNF629 REST SP1 RFX1 CEBPB CREB1 ATF2 POLR2A BHLHE40 RCOR1 ARL4C SPP2 ENSG00000237784 lnc-SPP2-6 RF00017-3468
GH02J234161 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +113.8 113828 5.4 CREB1 FOXA1 ZKSCAN1 CTBP1 ZNF444 MAFK ZNF217 DPF2 EBF1 RCOR1 ARL4C SPP2 piR-40154-103 piR-49097-058 lnc-ARL4C-12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPP2

Top Transcription factor binding sites by QIAGEN in the SPP2 gene promoter:
  • AML1a
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GCNF
  • GCNF-1
  • GCNF-2

Genomic Locations for SPP2 Gene

Genomic Locations for SPP2 Gene
chr2:234,050,667-234,077,134
(GRCh38/hg38)
Size:
26,468 bases
Orientation:
Plus strand
chr2:234,959,323-234,985,778
(GRCh37/hg19)
Size:
26,456 bases
Orientation:
Plus strand

Genomic View for SPP2 Gene

Genes around SPP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPP2 Gene

Proteins for SPP2 Gene

  • Protein details for SPP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13103-SPP24_HUMAN
    Recommended name:
    Secreted phosphoprotein 24
    Protein Accession:
    Q13103
    Secondary Accessions:
    • A4QMV3
    • Q3B892
    • Q546M5

    Protein attributes for SPP2 Gene

    Size:
    211 amino acids
    Molecular mass:
    24338 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPP2 Gene

Post-translational modifications for SPP2 Gene

  • Phosphorylation sites are present in the extracellular medium.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPP2 Gene

No data available for DME Specific Peptides for SPP2 Gene

Domains & Families for SPP2 Gene

Gene Families for SPP2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SPP2 Gene

InterPro:
Blocks:
  • Secreted phosphoprotein 24
ProtoNet:

Suggested Antigen Peptide Sequences for SPP2 Gene

GenScript: Design optimal peptide antigens:
  • Secreted phosphoprotein 2 (SPP24_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13103

UniProtKB/Swiss-Prot:

SPP24_HUMAN :
  • Belongs to the SPP2 family.
Family:
  • Belongs to the SPP2 family.
genes like me logo Genes that share domains with SPP2: view

Function for SPP2 Gene

Molecular function for SPP2 Gene

UniProtKB/Swiss-Prot Function:
Could coordinate an aspect of bone turnover.
GENATLAS Biochemistry:
secreted phosphoprotein2,24kDa,expressed in bone,bovine spp24 homolog

Phenotypes From GWAS Catalog for SPP2 Gene

Gene Ontology (GO) - Molecular Function for SPP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 7814406
genes like me logo Genes that share ontologies with SPP2: view
genes like me logo Genes that share phenotypes with SPP2: view

Animal Models for SPP2 Gene

MGI Knock Outs for SPP2:
  • Spp2 Spp2<tm1(cre/ERT2)Amc>

Animal Model Products

  • Taconic Biosciences Mouse Models for SPP2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SPP2 Gene

Localization for SPP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPP2 Gene

Secreted.

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 SPP2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SPP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031089 platelet dense granule lumen TAS --
GO:0062023 collagen-containing extracellular matrix HDA 27559042
genes like me logo Genes that share ontologies with SPP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPP2 Gene

Pathways & Interactions for SPP2 Gene

genes like me logo Genes that share pathways with SPP2: view

Gene Ontology (GO) - Biological Process for SPP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 7814406
GO:0002576 platelet degranulation TAS --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with SPP2: view

No data available for SIGNOR curated interactions for SPP2 Gene

Drugs & Compounds for SPP2 Gene

No Compound Related Data Available

Transcripts for SPP2 Gene

mRNA/cDNA for SPP2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPP2

Alternative Splicing Database (ASD) splice patterns (SP) for SPP2 Gene

No ASD Table

Relevant External Links for SPP2 Gene

GeneLoc Exon Structure for
SPP2

Expression for SPP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPP2 Gene

This gene is overexpressed in Liver (x52.4).

Protein differential expression in normal tissues from HIPED for SPP2 Gene

This gene is overexpressed in Serum (57.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPP2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPP2

SOURCE GeneReport for Unigene cluster for SPP2 Gene:

Hs.444488

mRNA Expression by UniProt/SwissProt for SPP2 Gene:

Q13103-SPP24_HUMAN
Tissue specificity: Detected in liver and plasma.

Evidence on tissue expression from TISSUES for SPP2 Gene

  • Liver(4.6)
  • Bone(4.3)
genes like me logo Genes that share expression patterns with SPP2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPP2 Gene

Orthologs for SPP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPP2 30 31
  • 96.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPP2 30 31
  • 77.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPP2 30 31
  • 76.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Spp2 30 17 31
  • 75.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Spp2 30
  • 73.57 (n)
Oppossum
(Monodelphis domestica)
Mammalia SPP2 31
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SPP2 31
  • 38 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii SPP2 31
  • 24 (a)
OneToOne
Species where no ortholog for SPP2 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)
  • 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)

Evolution for SPP2 Gene

ENSEMBL:
Gene Tree for SPP2 (if available)
TreeFam:
Gene Tree for SPP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPP2: view image

Paralogs for SPP2 Gene

No data available for Paralogs for SPP2 Gene

Variants for SPP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPP2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
723035 Likely Benign: not provided 234,066,594(+) T/G INTRON_VARIANT
731805 Likely Benign: not provided 234,050,834(+) T/C SYNONYMOUS_VARIANT
781690 Likely Benign: not provided 234,050,998(+) C/T MISSENSE_VARIANT
782239 Benign: not provided 234,051,059(+) G/T SYNONYMOUS_VARIANT
839757 Uncertain Significance: not provided 234,051,009(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SPP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SPP2 Gene

Variant ID Type Subtype PubMed ID
dgv4190n100 CNV loss 25217958
esv3594685 CNV gain 21293372
esv3594686 CNV loss 21293372
nsv1013712 CNV loss 25217958
nsv10224 CNV loss 18304495
nsv834571 CNV gain 17160897
nsv998149 CNV gain 25217958

Variation tolerance for SPP2 Gene

Residual Variation Intolerance Score: 67.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.83; 34.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPP2 Gene

Human Gene Mutation Database (HGMD)
SPP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPP2 Gene

Disorders for SPP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gerstmann-straussler disease
  • gsd
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search SPP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SPP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPP2 Gene

Publications for SPP2 Gene

  1. Characterization of the human secreted phosphoprotein 24 gene (SPP2) and comparison of the protein sequence in nine species. (PMID: 15062857) Bennett CS … Dalgleish R (Matrix biology : journal of the International Society for Matrix Biology 2004) 3 4 23
  2. Assignment of secreted phosphoprotein 24 (SPP2) to human chromosome band 2q37-->qter by in situ hybridization. (PMID: 9533032) Swallow JE … Dalgleish R (Cytogenetics and cell genetics 1997) 2 3 23
  3. An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. (PMID: 20548944) Hsu YH … Kiel DP (PLoS genetics 2010) 3 41
  4. Bone morphogenetic protein-2 activity is regulated by secreted phosphoprotein-24 kd, an extracellular pseudoreceptor, the gene for which maps to a region of the human genome important for bone quality. (PMID: 19375587) Brochmann EJ … Murray SS (Metabolism: clinical and experimental 2009) 3 23
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41

Products for SPP2 Gene

  • Signalway ELISA kits for SPP2

Sources for SPP2 Gene