Gene Gene information from NCBI Gene database.
Entrez ID 6717
Gene name Sorcin
Gene symbol SRI
Synonyms (NCBI Gene)
CP-22CP22SCNV19
Chromosome 7
Chromosome location 7q21.12
Summary This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulate
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs869312940 C>T Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
276
miRTarBase ID miRNA Experiments Reference
MIRT023807 hsa-miR-1-3p Proteomics 18668040
MIRT467112 hsa-miR-5580-3p PAR-CLIP 23592263
MIRT467111 hsa-miR-3171 PAR-CLIP 23592263
MIRT467110 hsa-let-7a-3p PAR-CLIP 23592263
MIRT467109 hsa-let-7b-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 10748169
GO:0005102 Function Signaling receptor binding TAS 9668070
GO:0005246 Function Calcium channel regulator activity TAS 9668070
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 17215369
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
182520 11292 ENSG00000075142
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30626
Protein name Sorcin (22 kDa protein) (CP-22) (CP22) (V19)
Protein function Calcium-binding protein that modulates excitation-contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels.
PDB 1JUO , 2JC2 , 4U8D , 4UPG , 4USL , 5MRA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13833 EF-hand_8 45 102 EF-hand domain pair Domain
PF13499 EF-hand_7 103 163 EF-hand domain pair Domain
Tissue specificity TISSUE SPECIFICITY: Detected in cardiac myocytes.
Sequence
Sequence length 198
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Stimuli-sensing channels
Reduction of cytosolic Ca++ levels
Sodium/Calcium exchangers
Ion homeostasis
Ion transport by P-type ATPases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
HYPERTROPHIC CARDIOMYOPATHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 19903339
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Associate 22515980
★☆☆☆☆
Found in Text Mining only
Gallbladder Neoplasms Associate 37142981
★☆☆☆☆
Found in Text Mining only
Infertility Associate 25405865
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Associate 26045737
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 24113185, 26045737, 28726784, 34163033, 37442828
★☆☆☆☆
Found in Text Mining only
Neoplasms Stimulate 35799174
★☆☆☆☆
Found in Text Mining only
Obsessive Compulsive Disorder Inhibit 25824302
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Associate 34163033, 35799174
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Associate 31268161, 31585896, 37445803
★☆☆☆☆
Found in Text Mining only