Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	6694
Gene name	Secreted phosphoprotein 2
Gene symbol	SPP2
Synonyms (NCBI Gene)	SPP-24SPP24
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]

10 Show/Hide all (10)

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

MIM	HGNC	e!Ensembl
602637	11256	ENSG00000072080

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

Interactions

View interactions

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

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)

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

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (11)
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ 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	20548944	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	31926482	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	ClinVar, Disgenet ClinVar, Disgenet	26459573	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	26459573	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	24529757	★★★★★ ★★☆☆☆ 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	35893037	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SPP2 (secreted phosphoprotein 2)

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