MILR1
protein-codingmast cell immunoglobulin like receptor 1, the group of Immunoglobulin like domain containing
Gene summary
Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway; mast cell degranulation; and negative regulation of mast cell activation. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- C17orf60
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~43.7 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 MILR1 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . 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 | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001078892.1 | 9 | MANE Select | |
| Ensembl | ENSP00000482801.1 | 9 | MANE Select | |
| RefSeq | NP_001278245.1 | 8 | Standard | |
| RefSeq | NP_001278246.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- negative regulation of mast cell activation
- mast cell degranulation
Cellular Component
- integral component of plasma membrane
- mast cell granule
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000605096
- Coding exons
- 4
- Length
- 3192
- Individuals with no LoFs
- 120418
- Homozygous LoFs
- 13
- Heterozygous LoFs
- 590
- Defined
- 121021
- p
- 0.00249
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.540 | 36 | 46.3 | 0.777 | 0.00000233 | 569 |
| Missense (PolyPhen) | 12 | 12.952 | 0.92652 | 139 | ||
| Synonymous | 1.09 | 11 | 16.7 | 0.660 | 8.98e-7 | 161 |
| Loss of Function | 0.984 | 3 | 5.49 | 0.547 | 2.30e-7 | 75 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00013 | 0.00012 | rare |
| Ashkenazi Jewish | 0.00063 | 0.00061 | rare |
| East Asian | 0.00012 | 0.00011 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000039 | 0.000036 | rare |
| South Asian | 0.022 | 0.020 | notable |
| Other | 0.0011 | 0.0010 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Immunoglobulin-like receptor which plays an inhibitory role in degranulation of mast cells. Negatively regulates IgE- mediated mast cell activation and suppresses the type I immediate hypersensitivity reaction (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.0719
Essentials
- Indispensability pred.
- N
- Indispensability score
- 0.114