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

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

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; 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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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/TrEMBL
    H7C5A5
    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/TrEMBL
    A0A1X7SBY3, H0Y860
    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
    A6H8L7, B7ZVY0, Q96BF1, Q9BQH2, Q9H8R1, Q9P246
    UniProtKB/TrEMBL
    A0A1X7SBY3
    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: 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)