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STIMATE STIM activating enhancer [ Homo sapiens (human) ]

Gene ID: 375346, updated on 25-Jan-2022

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, Nov 2021]
Expression
Ubiquitous expression in bone marrow (RPKM 12.1), lung (RPKM 12.0) and 25 other tissues See more
Orthologs
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Genomic context

See STIMATE in Genome Data Viewer
Location:
3p21.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (52836733..52897548, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52870749..52931564, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene STIMATE-MUSTN1 readthrough Neighboring gene ITIH4 antisense RNA 1 Neighboring gene inter-alpha-trypsin inhibitor heavy chain 4 Neighboring gene musculoskeletal, embryonic nuclear protein 1 Neighboring gene microRNA 8064 Neighboring gene Scm like with four mbt domains 1 Neighboring gene Sharpr-MPRA regulatory region 7399 Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 3

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

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough STIMATE-MUSTN1

Readthrough gene: STIMATE-MUSTN1, Included gene: MUSTN1

Homology

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
PubMed 
enables calcium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cortical endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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.

mRNA and Protein(s)

  1. NM_198563.5NP_940965.1  store-operated calcium entry regulator STIMATE

    See identical proteins and their annotated locations for NP_940965.1

    Status: VALIDATED

    Source sequence(s)
    AC099667
    Consensus CDS
    CCDS2866.1
    UniProtKB/Swiss-Prot
    Q86TL2
    Related
    ENSP00000347195.5, ENST00000355083.11
    Conserved Domains (1) summary
    pfam12400
    Location:100219
    STIMATE; STIMATE family

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    52836733..52897548 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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