MRNIP
protein-codingMRN complex interacting protein
Gene summary
Enables chromatin binding activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; positive regulation of protein kinase activity; and regulation of double-strand break repair. Located in Mre11 complex and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
- C5orf45
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~27.0 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 MRNIP variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_016175.4. 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 | 6 | 7 | |||
| missense | 10 | 10 | ||||
| nonsense | 3 | 2 | 5 | |||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 15 | 8 | 0 | 23 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_057259.2 | 7 | MANE Select | |
| Ensembl | ENSP00000292586.6 | 7 | MANE Select | |
| RefSeq | NP_001017987.1 | 5 | Standard | |
| Ensembl | ENSP00000366130.2 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- DNA repair
- cellular response to DNA damage stimulus
- mitotic G2 DNA damage checkpoint
- response to ionizing radiation
- positive regulation of protein kinase activity
Molecular Function
- chromatin binding
- protein binding
Cellular Component
- nucleus
- nucleoplasm
- Mre11 complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000292586
- Coding exons
- 7
- Length
- 27738
- Individuals with no LoFs
- 124952
- Homozygous LoFs
- 3
- Heterozygous LoFs
- 793
- Defined
- 125748
- p
- 0.00317
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.273 | 198 | 187 | 1.06 | 0.0000102 | 2182 |
| Missense (PolyPhen) | 53 | 47.88 | 1.1069 | 674 | ||
| Synonymous | -2.54 | 104 | 75.9 | 1.37 | 0.00000442 | 682 |
| Loss of Function | 0.902 | 9 | 12.4 | 0.724 | 5.28e-7 | 151 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0059 | 0.0059 | notable |
| Latino/Admixed American | 0.0026 | 0.0026 | notable |
| Ashkenazi Jewish | 0.0035 | 0.0035 | notable |
| East Asian | 0.00038 | 0.00038 | rare |
| Finnish | 0.00071 | 0.00069 | rare |
| European (Non-Finnish) | 0.0037 | 0.0037 | notable |
| South Asian | 0.0035 | 0.0035 | notable |
| Other | 0.0051 | 0.0051 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex (PubMed:27568553). Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair (PubMed:27568553).;
Intolerance Scores
- RVIS EVS
- 1.11
- RVIS percentile EVS
- 92.04
Essentials
- Essential (gene trap)
- N