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 modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinc... See more...

Aliases for SRI Gene

Aliases for SRI Gene

  • Sorcin 2 3 4 5
  • 22 KDa Protein 3 4
  • CP-22 3 4
  • CP22 3 4
  • V19 3 4
  • Calcium Binding Protein Amplified In Mutlidrug-Resistant Cells 3
  • H_RG167B05.1 3
  • SCN 3
  • SRI 5

External Ids for SRI Gene

Previous GeneCards Identifiers for SRI Gene

  • GC07M086370
  • GC07M087432
  • GC07M087447
  • GC07M087446
  • GC07M087479
  • GC07M087672
  • GC07M087834
  • GC07M082444

Summaries for SRI Gene

Entrez Gene Summary for SRI Gene

  • 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 modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for SRI Gene

SRI (Sorcin) is a Protein Coding gene. Diseases associated with SRI include Overhydrated Hereditary Stomatocytosis and Hereditary Stomatocytosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include calcium ion binding and signaling receptor binding. An important paralog of this gene is GCA.

UniProtKB/Swiss-Prot Summary for SRI Gene

  • 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.

Gene Wiki entry for SRI Gene

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

Genomics for SRI Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SRI Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the SRI gene promoter:
  • AML1a

Genomic Locations for SRI Gene

Genomic Locations for SRI Gene
chr7:88,205,115-88,226,993
(GRCh38/hg38)
Size:
21,879 bases
Orientation:
Minus strand
chr7:87,834,432-87,856,308
(GRCh37/hg19)
Size:
21,877 bases
Orientation:
Minus strand

Genomic View for SRI Gene

Genes around SRI on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SRI Gene

Proteins for SRI Gene

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

    Protein Symbol:
    P30626-SORCN_HUMAN
    Recommended name:
    Sorcin
    Protein Accession:
    P30626
    Secondary Accessions:
    • A8MTH6
    • B4DKK2
    • D6W5Q0

    Protein attributes for SRI Gene

    Size:
    198 amino acids
    Molecular mass:
    21676 Da
    Quaternary structure:
    • Homodimer. Interacts with GCA, RYR2 and ANXA7.
    Miscellaneous:
    • This protein is encoded by an amplified gene in multidrug-resistant cells.
    • This protein has been shown to bind calcium with high affinity.

    Three dimensional structures from OCA and Proteopedia for SRI Gene

    Alternative splice isoforms for SRI Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRI Gene

Post-translational modifications for SRI Gene

  • Ubiquitination at Lys127
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SRI Gene

Domains & Families for SRI Gene

Gene Families for SRI Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SRI Gene

Suggested Antigen Peptide Sequences for SRI Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54267, moderately similar to Sorcin (B4DHQ6_HUMAN)
  • cDNA FLJ60640, highly similar to Sorcin (B4DKK2_HUMAN)
  • Calcium binding protein amplified in mutlidrug-resistant cells (Q75MZ6_HUMAN)
  • V19 (SORCN_HUMAN)
genes like me logo Genes that share domains with SRI: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SRI Gene

Function for SRI Gene

Molecular function for SRI Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
sorcin,calcium binding protein (22kDa),overexpressed in multidrug resistant lines

Phenotypes From GWAS Catalog for SRI Gene

Gene Ontology (GO) - Molecular Function for SRI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 10748169
GO:0005102 signaling receptor binding TAS 9668070
GO:0005246 calcium channel regulator activity TAS 9668070
GO:0005509 calcium ion binding IDA 17215369
GO:0005515 protein binding IPI 9268363
genes like me logo Genes that share ontologies with SRI: view
genes like me logo Genes that share phenotypes with SRI: view

Animal Models for SRI Gene

MGI Knock Outs for SRI:
  • Sri Sri<tm1.1Hhv>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

Localization for SRI Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRI Gene

Cytoplasm. Sarcoplasmic reticulum membrane. Peripheral membrane protein. Cytoplasmic side. Note=Relocates to the sarcoplasmic reticulum membrane in response to elevated calcium levels.

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 SRI gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 4
mitochondrion 3
cytoskeleton 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SRI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 16130169
GO:0005739 mitochondrion IEA --
GO:0005789 endoplasmic reticulum membrane IDA 10672515
genes like me logo Genes that share ontologies with SRI: view

Pathways & Interactions for SRI Gene

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

Pathways by source for SRI Gene

1 Qiagen pathway for SRI Gene
  • Presenilin-Mediated Signaling

SIGNOR curated interactions for SRI Gene

Other effect:

Gene Ontology (GO) - Biological Process for SRI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential TAS 9668070
GO:0006816 calcium ion transport IEA --
GO:0006880 intracellular sequestering of iron ion TAS 9668070
GO:0006942 regulation of striated muscle contraction TAS 9668070
GO:0007165 signal transduction TAS 16130169
genes like me logo Genes that share ontologies with SRI: view

Drugs & Compounds for SRI Gene

(12) Drugs for SRI Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium citrate Approved, Investigational Pharma Target, ligand 0
Calcium Phosphate Approved Pharma Target, ligand 0
Calcium phosphate dihydrate Approved Pharma Target 0
belimumab Approved Pharma Therapeutic Antibodies 63
Calcium Nutra 6556

(1) Additional Compounds for SRI Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SRI: view

Transcripts for SRI Gene

mRNA/cDNA for SRI Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
10 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 SRI

Clone Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b
SP1: - - - -
SP2: - - -
SP3: - - - - - -
SP4: -
SP5: -
SP6:

Relevant External Links for SRI Gene

GeneLoc Exon Structure for
SRI

Expression for SRI Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SRI Gene

This gene is overexpressed in Bone (16.6).

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



Protein tissue co-expression partners for SRI Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for SRI Gene:

Hs.489040

mRNA Expression by UniProt/SwissProt for SRI Gene:

P30626-SORCN_HUMAN
Tissue specificity: Detected in cardiac myocytes.

Evidence on tissue expression from TISSUES for SRI Gene

  • Nervous system(5)
  • Intestine(4.8)
  • Skin(4.6)
  • Liver(4.5)
  • Muscle(3.1)
  • Heart(3.1)
  • Kidney(2.9)
  • Blood(2.8)
  • Lung(2.7)
  • Lymph node(2.7)
  • Stomach(2.7)
  • Bone marrow(2.6)
  • Thyroid gland(2.6)
  • Spleen(2.5)
  • Adrenal gland(2.5)
  • Pancreas(2.4)
  • Eye(2)
genes like me logo Genes that share expression patterns with SRI: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRI Gene

Orthologs for SRI Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SRI Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SRI 30 31
  • 99.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SRI 30 31
  • 94.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SRI 30 31
  • 93.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sri 30 17 31
  • 87.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sri 30
  • 85.35 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SRI 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SRI 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SRI 30 31
  • 78.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SRI 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sri 30
  • 73.73 (n)
Str.6127 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25824 30
Zebrafish
(Danio rerio)
Actinopterygii sri 30 31
  • 69.98 (n)
OneToOne
zgc64070 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9248 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG17765 31
  • 33 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEF1 31
  • 13 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
Species where no ortholog for SRI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SRI Gene

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

Paralogs for SRI Gene

(11) SIMAP similar genes for SRI Gene using alignment to 6 proteins:

  • SORCN_HUMAN
  • B4DHQ6_HUMAN
  • B4DKK2_HUMAN
  • C9J0K6_HUMAN
  • E9PG82_HUMAN
  • Q75MZ6_HUMAN

Pseudogenes.org Pseudogenes for SRI Gene

genes like me logo Genes that share paralogs with SRI: view

Variants for SRI Gene

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

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs869312940 Pathogenic: Inborn genetic diseases 88,210,926(-) C/T SPLICE_ACCEPTOR_VARIANT

Additional dbSNP identifiers (rs#s) for SRI Gene

Variation tolerance for SRI Gene

Residual Variation Intolerance Score: 58.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRI Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SRI Gene

Disorders for SRI Gene

MalaCards: The human disease database

(5) MalaCards diseases for SRI Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SRI in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SRI

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 SRI: view

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

Publications for SRI Gene

  1. The PEF family proteins sorcin and grancalcin interact in vivo and in vitro. (PMID: 12804766) Hansen C … Berchtold MW (FEBS letters 2003) 3 4 23
  2. Crystal structure of calcium-free human sorcin: a member of the penta-EF-hand protein family. (PMID: 11714909) Xie X … Botfield MC (Protein science : a publication of the Protein Society 2001) 3 4 23
  3. Purification, cDNA cloning, and expression of human sorcin in vincristine-resistant HOB1 lymphoma cell lines. (PMID: 8561500) Lee WP (Archives of biochemistry and biophysics 1996) 3 4 23
  4. Isolation and molecular cloning of human sorcin a calcium-binding protein in vincristine-resistant HOB1 lymphoma cells. (PMID: 7873602) Wang SL … Kao MC (Biochimica et biophysica acta 1995) 3 4 23
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

Products for SRI Gene

Sources for SRI Gene