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STIMATE STIM activating enhancer [ Homo sapiens (human) ]

Gene ID: 375346, updated on 3-Apr-2018

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; Vega:OTTHUMG00000150346
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
Expression
Ubiquitous expression in bone marrow (RPKM 12.1), lung (RPKM 12.0) and 25 other tissues See more
Orthologs

Genomic context

See STIMATE in Genome Data Viewer
Location:
3p21.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (52836756..52897581, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52870772..52931597, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene TMEM110-MUSTN1 readthrough Neighboring gene ITIH4 antisense RNA 1 Neighboring gene inter-alpha-trypsin inhibitor heavy chain family member 4 Neighboring gene musculoskeletal, embryonic nuclear protein 1 Neighboring gene microRNA 8064 Neighboring gene Scm like with four mbt domains 1 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 Jun 15 11:32:44 2016

Bibliography

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Readthrough TMEM110-MUSTN1

Readthrough gene: TMEM110-MUSTN1, Included gene: MUSTN1

Homology

Clone Names

  • FLJ37613, FLJ42395, MGC52022, DKFZp667E1121, DKFZp779M0254

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cortical endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

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)

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_198563.2NP_940965.1  store-operated calcium entry regulator STIMATE

    See identical proteins and their annotated locations for NP_940965.1

    Status: VALIDATED

    Source sequence(s)
    AK124386, AY726591, BC047015, BM802543, BX360795, BX648562, DA619807, DA730528, DB362400
    Consensus CDS
    CCDS2866.1
    UniProtKB/Swiss-Prot
    Q86TL2
    Related
    ENSP00000347195.5, OTTHUMP00000213875, ENST00000355083.9, OTTHUMT00000352949
    Conserved Domains (1) summary
    pfam12400
    Location:100219
    STIMATE; STIMATE family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    52836756..52897581 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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