MINAR1
protein-codingmembrane integral NOTCH2 associated receptor 1
Gene summary
Involved in several processes, including negative regulation of TOR signaling; negative regulation of angiogenesis; and negative regulation of protein ubiquitination. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- KIAA1024
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~40.0 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 MINAR1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_015206.3. 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 | 1 | 1 | 2 | 4 | ||
| missense | 166 | 6 | 172 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 167 | 7 | 2 | 176 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_056021.1 | 3 | MANE Select | |
| Ensembl | ENSP00000307461.3 | 3 | MANE Select | |
| Ensembl | ENSP00000454088.1 | 3 | Standard | |
| Ensembl | ENSP00000589356.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- angiogenesis
- negative regulation of cell population proliferation
- negative regulation of neuron projection development
- negative regulation of angiogenesis
- negative regulation of cell growth
Molecular Function
- protein binding
Cellular Component
- plasma membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000305428
- Coding exons
- 3
- Length
- 39775
- Individuals with no LoFs
- 125679
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 69
- Defined
- 125748
- p
- 0.000274
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.438 | 551 | 523 | 1.05 | 0.0000309 | 6089 |
| Missense (PolyPhen) | 155 | 168.82 | 0.91814 | 2033 | ||
| Synonymous | -1.09 | 237 | 217 | 1.09 | 0.0000136 | 1757 |
| Loss of Function | 2.86 | 13 | 29.9 | 0.435 | 0.00000170 | 356 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00018 | 0.00018 | rare |
| Latino/Admixed American | 0.00043 | 0.00043 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00022 | 0.00022 | rare |
| Finnish | 0.00023 | 0.00023 | rare |
| European (Non-Finnish) | 0.00032 | 0.00030 | rare |
| South Asian | 0.00020 | 0.00020 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Intrinsically disordered protein which may negatively regulate mTOR signaling pathway by stabilizing the mTOR complex component DEPTOR (PubMed:30080879). Negatively regulates angiogenesis (PubMed:29329397). Negatively regulates cell growth (PubMed:29329397, PubMed:30080879). Negatively regulates neurite outgrowth in hippocampal neurons (By similarity). {ECO:0000250|UniProtKB:D3ZJ47, ECO:0000269|PubMed:29329397, ECO:0000269|PubMed:30080879}.;
Recessive Scores
- pRec
- 0.114
Intolerance Scores
- RVIS EVS
- 0.24
- RVIS percentile EVS
- 68.6
Essentials
- Essential (gene trap)
- N