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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Oxidative Stress-Induced STIM2 Cysteine Modifications Suppress Store-Operated Calcium Entry.
Title: Oxidative Stress-Induced STIM2 Cysteine Modifications Suppress Store-Operated Calcium Entry.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Common variants at 1p36 are associated with superior frontal gyrus volume. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-112388 (e-PCR)
- UniSTS:183839

SHGC-59200 (e-PCR)
- UniSTS:16417

SHGC-36198 (e-PCR)
- UniSTS:50990

STS-T97323 (e-PCR)
- UniSTS:26943

SHGC-60033 (e-PCR)
- UniSTS:61291

STIM2__5338 (e-PCR)
- UniSTS:464572

RH119523 (e-PCR)
- UniSTS:133565

D4S2857 (e-PCR)
- UniSTS:708

SHGC-59758 (e-PCR)
- UniSTS:62940

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)

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
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
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