SPP2 (secreted phosphoprotein 2)

Gene

• Entrez ID: 6694
• Gene name: Secreted phosphoprotein 2
• Gene symbol: SPP2
• Synonyms (NCBI Gene): SPP-24, SPP24
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008]

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	7814406
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	7814406
GO:0005576	Component	Extracellular region	HDA	27559042
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0031089	Component	Platelet dense granule lumen	TAS
GO:0032991	Component	Protein-containing complex	IEA
GO:0046849	Process	Bone remodeling	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA

Other IDs

• MIM: 602637
• HGNC: 11256
• e!Ensembl: ENSG00000072080

Protein

• UniProt ID: Q13103
• Protein name: Secreted phosphoprotein 24 (Spp-24) (Secreted phosphoprotein 2)
• Protein function: Could coordinate an aspect of bone turnover.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07448	Spp-24	73 → 136	Secreted phosphoprotein 24 (Spp-24) cystatin-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in liver and plasma. {ECO:0000269|PubMed:15062857}.
• Sequence:

  MISRMEKMTMMMKILIMFALGMNYWSCSGFPVYDYDPSSLRDALSASVVKVNSQSLSPYL
  FRAFRSSLKRVEVLDENNLVMNLEFSIRETTCRKDSGEDPATCAFQRDYYVSTAVCRSTV
  KVSAQQVQGVHARCSWSSSTSESYSSEEMIFGDMLGSHKWRNNYLFGLISDESISEQFYD
  RSLGIMRRVLPPGNRRYPNHRHRARINTDFE

• Sequence length: 211

Pathways

Reactome:

Platelet degranulation
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Retinal dystrophy	Likely pathogenic	rs2470229621	RCV003890783	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	ClinVar, Disgenet ClinVar, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPP2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations