REM2
protein-codingRRAD and GEM like GTPase 2, the group of RGK type GTPase family
Gene summary
Predicted to enable GTP binding activity and calcium channel regulator activity. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~4.5 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 REM2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_173527.3. 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 | 2 | ||||
| missense | 51 | 3 | 54 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 54 | 3 | 0 | 57 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_775798.2 | 5 | MANE Select | |
| Ensembl | ENSP00000267396.4 | 5 | MANE Select | |
| Ensembl | ENSP00000442774.1 | 3 | Standard | |
| Ensembl | ENSP00000442774.1 | 3 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| rem2 | Danio rerio | Structure: head Quality: decreased size abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- signal transduction
- negative regulation of high voltage-gated calcium channel activity
Molecular Function
- GTPase activity
- calcium channel regulator activity
- GTP binding
Cellular Component
- plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000267396
- Coding exons
- 5
- Length
- 4522
- Individuals with no LoFs
- 124427
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 228
- Defined
- 124655
- p
- 0.000915
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.26 | 148 | 198 | 0.748 | 0.0000120 | 2153 |
| Missense (PolyPhen) | 45 | 68.279 | 0.65906 | 786 | ||
| Synonymous | 1.02 | 71 | 82.8 | 0.857 | 0.00000489 | 736 |
| Loss of Function | 0.809 | 9 | 12.0 | 0.748 | 6.96e-7 | 137 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00045 | 0.00045 | rare |
| Latino/Admixed American | 0.00043 | 0.00043 | rare |
| Ashkenazi Jewish | 0.0028 | 0.0028 | notable |
| East Asian | 0.00045 | 0.00045 | rare |
| Finnish | 0.00042 | 0.00042 | rare |
| European (Non-Finnish) | 0.0013 | 0.0013 | notable |
| South Asian | 0.000065 | 0.000065 | rare |
| Other | 0.0013 | 0.0013 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Binds GTP saturably and exhibits a low intrinsic rate of GTP hydrolysis. {ECO:0000250|UniProtKB:Q9WTY2}.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- LoFtool
- 0.598
- RVIS EVS
- -0.07
- RVIS percentile EVS
- 48.35
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.288
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |