STIMATE STIM activating enhancer [Homo sapiens (human)] - Gene

Summary

Official Symbol: STIMATEprovided by HGNC
Official Full Name: STIM activating enhancerprovided by HGNC
Primary source: HGNC:HGNC:30526
See related: Ensembl:ENSG00000213533 MIM:617189; AllianceGenome:HGNC:30526
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TMEM110
Summary: Enables calcium channel regulator activity. Involved in activation of store-operated calcium channel activity; calcium-mediated signaling using intracellular calcium source; and positive regulation of calcineurin-NFAT signaling cascade. Located in cortical endoplasmic reticulum; endoplasmic reticulum membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bone marrow (RPKM 12.1), lung (RPKM 12.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (52836733..52897548, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (52869752..52930551, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (52870749..52931564, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Research on calcium signaling has centered on STIM1, ORAI1, and proteins that modulate their function. TMEM110 regulates the maintenance of ER-plasma membrane junctions and the short-term remodeling of junctions during store-dependent calcium signaling.
Title: TMEM110 regulates the maintenance and remodeling of mammalian ER-plasma membrane junctions competent for STIM-ORAI signaling.
Data show that transmembrane protein 110 STIMATE is an endoplasmic reticulum (ER)-resident protein that co-localizes with membrane protein STIM1.
Title: Proteomic mapping of ER-PM junctions identifies STIMATE as a regulator of Ca²⁺ influx.

Submit: New GeneRIF Correction

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
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. 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-106308 (e-PCR)
- UniSTS:169762

STS-H99616 (e-PCR)
- UniSTS:53350

RH80385 (e-PCR)
- UniSTS:90268

SHGC-57800 (e-PCR)
- UniSTS:27550

WI-12546 (e-PCR)
- UniSTS:45992

STS-T49461 (e-PCR)
- UniSTS:29633

Readthrough STIMATE-MUSTN1

Readthrough gene: STIMATE-MUSTN1, Included gene: MUSTN1

Clone Names

FLJ37613, FLJ42395, MGC52022, DKFZp667E1121, DKFZp779M0254

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	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of store-operated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of store-operated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in store-operated calcium entry	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cortical endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in cortical endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-plasma membrane contact site	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: store-operated calcium entry regulator STIMATE

Names: STIM-activating enhancer encoded by TMEM110; transmembrane protein 110

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.