Gene Gene information from NCBI Gene database.
Entrez ID 6678
Gene name Secreted protein acidic and cysteine rich
Gene symbol SPARC
Synonyms (NCBI Gene)
BM-40OI17ONONT
Chromosome 5
Chromosome location 5q33.1
Summary This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene produc
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1057517662 C>T Pathogenic Missense variant, coding sequence variant
rs1057517663 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1255
miRTarBase ID miRNA Experiments Reference
MIRT001922 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT001922 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT004126 hsa-miR-192-5p Microarray 16822819
MIRT001922 hsa-miR-29c-3p ImmunohistochemistryqRT-PCR 21125666
MIRT006175 hsa-miR-29a-3p Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot 21880628
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SATB1 Activation 17343824
VHL Activation 15824735
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0001937 Process Negative regulation of endothelial cell proliferation IDA 12867428
GO:0005201 Function Extracellular matrix structural constituent RCA 28327460
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 7034958
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
182120 11219 ENSG00000113140
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09486
Protein name SPARC (Basement-membrane protein 40) (BM-40) (Osteonectin) (ON) (Secreted protein acidic and rich in cysteine)
Protein function Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acid
PDB 1BMO , 1NUB , 1SRA , 2V53
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09289 FOLN 72 93 Follistatin/Osteonectin-like EGF domain Domain
PF00050 Kazal_1 95 149 Kazal-type serine protease inhibitor domain Domain
PF10591 SPARC_Ca_bdg 152 289 Secreted protein acidic and rich in cysteine Ca binding region Domain
Sequence
Sequence length 303
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
Nuclear signaling by ERBB4
ECM proteoglycans
Scavenging by Class H Receptors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
38
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Osteogenesis imperfecta type 17 Pathogenic rs112382148, rs1057517662, rs1057517663 RCV003988721
RCV000412625
RCV000412523
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOGENESIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL DISC DEGENERATIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC PERSISTENT HEPATITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 10982193, 17576924, 17625608, 17916100, 24535175
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 16424866
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 18206229
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 18206229
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12104055, 14562024, 16598760, 29025374, 29156791
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 14562024
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31296175
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 20393008, 29756486
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 24769035
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 31524274
★☆☆☆☆
Found in Text Mining only