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

Gene ID: 57620, updated on 23-Nov-2021

Summary

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
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
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Genomic context

See STIM2 in Genome Data Viewer
Location:
4p15.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (26860841..27025381)
105.20201022 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 STIM2 antisense RNA 1 Neighboring gene PIMREG pseudogene 4 Neighboring gene long intergenic non-protein coding RNA 2261 Neighboring gene mitochondrial ribosomal protein L51 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
GeneReviews: Not available
Common variants at 1p36 are associated with superior frontal gyrus volume.
GeneReviews: Not available
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
GeneReviews: Not available
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001169117.2NP_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/Swiss-Prot
    Q9P246
    UniProtKB/TrEMBL
    B3KUB5
    Related
    ENSP00000419383.2, ENST00000467011.6
    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_001169118.2NP_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/Swiss-Prot
    Q9P246
    UniProtKB/TrEMBL
    A0A1W2PRA1, B3KUB5
    Related
    ENSP00000417569.2, ENST00000465503.6
    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_020860.4NP_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
    Q9P246
    UniProtKB/TrEMBL
    B3KUB5
    Related
    ENSP00000419073.2, ENST00000467087.7
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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