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    STIM2 stromal interaction molecule 2 [ Homo sapiens (human) ]

    Gene ID: 57620, updated on 6-Jun-2017
    Official Symbol
    STIM2provided by HGNC
    Official Full Name
    stromal interaction molecule 2provided by HGNC
    Primary source
    HGNC:HGNC:19205
    See related
    Ensembl:ENSG00000109689 MIM:610841; Vega:OTTHUMG00000097805
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009]
    Orthologs
    Location:
    4p15.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (26860691..27025381)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (26859329..27027003)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 19 Neighboring gene uncharacterized LOC105374546 Neighboring gene PICALM interacting mitotic regulator pseudogene Neighboring gene long intergenic non-protein coding RNA 2261 Neighboring gene mitochondrial ribosomal protein L51 pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
    NHGRI GWA Catalog
    Common variants at 1p36 are associated with superior frontal gyrus volume.
    NHGRI GWA Catalog
    Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
    NHGRI GWA Catalog
    Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ39527, KIAA1482

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium channel regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    store-operated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of store-operated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of store-operated calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    store-operated calcium entry IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    stromal interaction molecule 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001169117.1NP_001162588.1  stromal interaction molecule 2 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB040915, AF328905, AK096846, BC146661
      Consensus CDS
      CCDS54752.1
      UniProtKB/Swiss-Prot
      Q9P246
      UniProtKB/TrEMBL
      B3KUB5
      Related
      ENSP00000419383.1, OTTHUMP00000216198, ENST00000467011.5, OTTHUMT00000356861
      Conserved Domains (3) summary
      cd09574
      Location:132205
      SAM_STIM2; SAM domain of STIM2 subfamily proteins
      smart00454
      Location:133197
      SAM; Sterile alpha motif
      pfam16533
      Location:348445
      SOAR; STIM1 Orai1-activating region
    2. NM_001169118.1NP_001162589.1  stromal interaction molecule 2 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as STIM2.1 or STIM2beta) encodes the longest isoform (1). This isoform functions as a negative regulator of store-operated calcium entry (SOCE).
      Source sequence(s)
      AB040915, AF328905, AK096846
      Consensus CDS
      CCDS54751.1
      UniProtKB/Swiss-Prot
      Q9P246
      UniProtKB/TrEMBL
      B3KUB5
      Related
      ENSP00000417569.1, OTTHUMP00000123458, ENST00000465503.5, OTTHUMT00000215064
      Conserved Domains (3) summary
      cd09574
      Location:132205
      SAM_STIM2; SAM domain of STIM2 subfamily proteins
      smart00454
      Location:133197
      SAM; Sterile alpha motif
      pfam16533
      Location:348453
      SOAR; STIM1 Orai1-activating region
    3. NM_020860.3NP_065911.3  stromal interaction molecule 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_065911.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as STIM2.2 or STIM2alpha) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. This isoform functions as a positive regulator of store-operated calcium entry (SOCE).
      Source sequence(s)
      AB040915, AF328905, AK096846
      Consensus CDS
      CCDS3440.2
      UniProtKB/Swiss-Prot
      Q9P246
      UniProtKB/TrEMBL
      B3KUB5
      Related
      ENSP00000419073.1, OTTHUMP00000123457, ENST00000467087.5, OTTHUMT00000215063
      Conserved Domains (3) summary
      cd09574
      Location:132205
      SAM_STIM2; SAM domain of STIM2 subfamily proteins
      smart00454
      Location:133197
      SAM; Sterile alpha motif
      pfam16533
      Location:348445
      SOAR; STIM1 Orai1-activating region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      26860691..27025381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      26863824..27028520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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