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

    Gene ID: 57620, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:19205
    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]
    Expression
    Ubiquitous expression in gall bladder (RPKM 9.8), lymph node (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STIM2 in Genome Data Viewer
    Location:
    4p15.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (26860841..27025381)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (26845953..27010482)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (26862463..27027003)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 19 Neighboring gene small nucleolar RNA SNORD74 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15341 Neighboring gene STIM2 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:26912815-26913449 Neighboring gene Sharpr-MPRA regulatory region 12765 Neighboring gene PIMREG pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:27018939-27019440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:27019441-27019940 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:27060504-27061703 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:27077097-27077691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:27092736-27093335 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:27103164-27103664 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:27123690-27124548 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:27124549-27125407 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:27125408-27126265 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:27218731-27219930 Neighboring gene long intergenic non-protein coding RNA 2261 Neighboring gene uncharacterized LOC124900842 Neighboring gene MPRA-validated peak5014 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:27382868-27384067 Neighboring gene mitochondrial ribosomal protein L51 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Role of STIM2 in cell function and physiopathology. Berna-Erro A, et al. J Physiol, 2017 May 15. PMID 28087881, Free PMC Article
    2. Interspecific fusion of bovine and other cells with parainfluenza viruses (Sendai and Pi-3). Irvin AD, et al. J Comp Pathol, 1977 Jul. PMID 198439
    3. [Prospects for the development of parasitologic science]. Mchajłow W. Wiad Parazytol, 1975. PMID 1146333
    4. Differential roles of STIM1, STIM2 and Orai1 in the control of cell proliferation and SOCE amplitude in HEK293 cells. El Boustany C, et al. Cell Calcium, 2010 Apr. PMID 20172609
    5. Stromal interaction molecule 2 (STIM2) is frequently overexpressed in colorectal tumors and confers a tumor cell growth suppressor phenotype. Aytes A, et al. Mol Carcinog, 2012 Sep. PMID 22125164

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. STIM2 is involved in the regulation of apoptosis and the cell cycle in normal and malignant monocytic cells.
      Title: STIM2 is involved in the regulation of apoptosis and the cell cycle in normal and malignant monocytic cells.
    2. STIM2 promotes the invasion and metastasis of breast cancer cells through the NFAT1/TGF-beta1 pathway.
      Title: STIM2 promotes the invasion and metastasis of breast cancer cells through the NFAT1/TGF-β1 pathway.
    3. Functional communication between IP3R and STIM2 at subthreshold stimuli is a critical checkpoint for initiation of SOCE.
      Title: Functional communication between IP(3)R and STIM2 at subthreshold stimuli is a critical checkpoint for initiation of SOCE.
    4. Oxidative Stress-Induced STIM2 Cysteine Modifications Suppress Store-Operated Calcium Entry.
      Title: Oxidative Stress-Induced STIM2 Cysteine Modifications Suppress Store-Operated Calcium Entry.
    5. Calmodulin Binding Proteins and Alzheimer's Disease: Biomarkers, Regulatory Enzymes and Receptors That Are Regulated by Calmodulin.
      Title: Calmodulin Binding Proteins and Alzheimer's Disease: Biomarkers, Regulatory Enzymes and Receptors That Are Regulated by Calmodulin.
    6. Functional role of TRPC6 and STIM2 in cytosolic and endoplasmic reticulum Ca2+ content in resting estrogen receptor-positive breast cancer cells.
      Title: Functional role of TRPC6 and STIM2 in cytosolic and endoplasmic reticulum Ca2+ content in resting estrogen receptor-positive breast cancer cells.
    7. Synergistic stabilization by nitrosoglutathione-induced thiol modifications in the stromal interaction molecule-2 luminal domain suppresses basal and store operated calcium entry.
      Title: Synergistic stabilization by nitrosoglutathione-induced thiol modifications in the stromal interaction molecule-2 luminal domain suppresses basal and store operated calcium entry.
    8. Transgenic Mice Overexpressing Human STIM2 and ORAI1 in Neurons Exhibit Changes in Behavior and Calcium Homeostasis but Show No Signs of Neurodegeneration.
      Title: Transgenic Mice Overexpressing Human STIM2 and ORAI1 in Neurons Exhibit Changes in Behavior and Calcium Homeostasis but Show No Signs of Neurodegeneration.
    9. STIM2 targets Orai1/STIM1 to the AKAP79 signaling complex and confers coupling of Ca(2+) entry with NFAT1 activation.
      Title: STIM2 targets Orai1/STIM1 to the AKAP79 signaling complex and confers coupling of Ca(2+) entry with NFAT1 activation.
    10. L-type Ca(2+) channel blockers promote vascular remodeling through activation of STIM proteins.
      Title: L-type Ca(2+) channel blockers promote vascular remodeling through activation of STIM proteins.
    Submit: New GeneRIF Correction See all GeneRIFs (57)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
    EBI GWAS Catalog
    Common variants at 1p36 are associated with superior frontal gyrus volume.
    EBI GWAS Catalog
    Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
    EBI GWAS Catalog
    Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39527, KIAA1482

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium channel regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables store-operated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of store-operated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in activation of store-operated calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in store-operated calcium entry IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    stromal interaction molecule 2

    NCBI Reference Sequences (RefSeq)

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    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_001169117.2 → NP_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)
      AC006928, AC106047
      Consensus CDS
      CCDS54752.1
      UniProtKB/TrEMBL
      H7C5A5
      Related
      ENSP00000419383.2, ENST00000467011.6
      Conserved Domains (3) summary
      cd09574
      Location:132 → 205
      SAM_STIM2; SAM domain of STIM2 subfamily proteins
      smart00454
      Location:133 → 197
      SAM; Sterile alpha motif
      pfam16533
      Location:348 → 445
      SOAR; STIM1 Orai1-activating region

    2. NM_001169118.2 → NP_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)
      AC006928, AC106047
      Consensus CDS
      CCDS54751.1
      UniProtKB/TrEMBL
      A0A1X7SBY3, H0Y860
      Related
      ENSP00000417569.2, ENST00000465503.6
      Conserved Domains (3) summary
      cd09574
      Location:132 → 205
      SAM_STIM2; SAM domain of STIM2 subfamily proteins
      smart00454
      Location:133 → 197
      SAM; Sterile alpha motif
      pfam16533
      Location:348 → 453
      SOAR; STIM1 Orai1-activating region

    3. NM_020860.4 → NP_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)
      AC006928, AC106047
      Consensus CDS
      CCDS3440.2
      UniProtKB/Swiss-Prot
      A6H8L7, B7ZVY0, Q96BF1, Q9BQH2, Q9H8R1, Q9P246
      UniProtKB/TrEMBL
      A0A1X7SBY3
      Related
      ENSP00000419073.2, ENST00000467087.7
      Conserved Domains (3) summary
      cd09574
      Location:132 → 205
      SAM_STIM2; SAM domain of STIM2 subfamily proteins
      smart00454
      Location:133 → 197
      SAM; Sterile alpha motif
      pfam16533
      Location:348 → 445
      SOAR; STIM1 Orai1-activating region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      26860841..27025381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      26845953..27010482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P246.2 GenPept UniProtKB/Swiss-Prot:Q9P246

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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