STIMATE

STIM activating enhancer, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 3:52836219-52897548

Previous symbols: [ "TMEM110" ]

Links

ENSG00000213533 ∙ NCBI:375346 ∙ OMIM:617189 ∙ HGNC:30526 ∙ Uniprot:Q86TL2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STIMATE gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STIMATE gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STIMATE	protein_coding	protein_coding	ENST00000355083	8	61378

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.189	0.809	125741	0	6	125747	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.51	119	175	0.679	0.0000108	1902
Missense in Polyphen		35	59.115	0.59207		629
Synonymous	0.929	64	74.2	0.863	0.00000508	575
Loss of Function	2.68	4	15.3	0.262	6.56e-7	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a regulator of store-operated Ca(2+) entry (SOCE) at junctional sites that connect the endoplasmic reticulum (ER) and plasma membrane (PM), called ER-plasma membrane (ER-PM) junction or cortical ER (PubMed:26322679, PubMed:26644574). SOCE is a Ca(2+) influx following depletion of intracellular Ca(2+) stores (PubMed:26322679). Acts by interacting with STIM1, promoting STIM1 conformational switch (PubMed:26322679). Involved in STIM1 relocalization to ER-PM junctions (PubMed:26644574). Contributes to the maintenance and reorganization of store- dependent ER-PM junctions (PubMed:26644574). {ECO:0000269|PubMed:26322679, ECO:0000269|PubMed:26644574}.

Intolerance Scores

• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.82

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.380
• ghis: 0.508

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tmem110
• Phenotype: limbs/digits/tail phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: activation of store-operated calcium channel activity;calcium-mediated signaling using intracellular calcium source;positive regulation of calcineurin-NFAT signaling cascade
• Cellular component: endoplasmic reticulum membrane;membrane;integral component of membrane;cortical endoplasmic reticulum;endoplasmic reticulum-plasma membrane contact site
• Molecular function: calcium channel regulator activity;protein binding