STIMATE
protein-codingSTIM activating enhancer, the group of MicroRNA protein coding host genes
Gene summary
Enables calcium channel regulator activity. Involved in activation of store-operated calcium channel activity and store-operated calcium entry. Located in cortical endoplasmic reticulum; endoplasmic reticulum membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of Genome Resources, Jul 2025]
- TMEM110
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~61.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to STIMATE variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_198563.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 1 | 3 | |||
| missense | 1 | 1 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 3 | 1 | 0 | 4 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_940965.1 | 8 | MANE Select | |
| Ensembl | ENSP00000347195.5 | 8 | MANE Select | |
| Ensembl | ENSP00000420219.1 | 2 | Standard | |
| Ensembl | ENSP00000418967.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- activation of store-operated calcium channel activity
- calcium-mediated signaling using intracellular calcium source
- positive regulation of calcineurin-NFAT signaling cascade
Molecular Function
- calcium channel regulator activity
- protein binding
Cellular Component
- endoplasmic reticulum membrane
- membrane
- integral component of membrane
- cortical endoplasmic reticulum
- endoplasmic reticulum-plasma membrane contact site
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000355083
- Coding exons
- 8
- Length
- 61378
- Individuals with no LoFs
- 125741
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 6
- Defined
- 125747
- p
- 0.0000239
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.51 | 119 | 175 | 0.679 | 0.0000108 | 1902 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000062 | 0.000062 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000035 | 0.000035 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- 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
Essentials
- Essential (gene trap)
- N