RAMAC
protein-codingRNA guanine-7 methyltransferase activating subunit
Gene summary
Enables RNA binding activity and enzyme activator activity. Involved in 7-methylguanosine mRNA capping. Located in nucleoplasm. Part of mRNA cap methyltransferase RNMT:RAMAC complex and mRNA capping enzyme complex. [provided by Alliance of Genome Resources, Jun 2026]
- FAM103A1
- RAMMET
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~4.8 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 RAMAC variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_031452.4. 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 | 0 | |||||
| missense | 24 | 1 | 25 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 24 | 1 | 0 | 25 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_113640.1 | 2 | MANE Select | |
| Ensembl | ENSP00000307181.3 | 2 | MANE Select | |
| Ensembl | ENSP00000545637.1 | 2 | Standard | |
| Ensembl | ENSP00000545637.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- 7-methylguanosine mRNA capping
- methylation
- recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex
- RNA 5'-cap (guanine-N7)-methylation
Molecular Function
- RNA binding
- mRNA (guanine-N7-)-methyltransferase activity
- protein binding
Cellular Component
- nucleus
- nucleoplasm
- mRNA cap binding complex
- mRNA cap methyltransferase complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000304191
- Coding exons
- 2
- Length
- 4851
- Individuals with no LoFs
- 125614
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 9
- Defined
- 125623
- p
- 0.0000358
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.674 | 79 | 63.8 | 1.24 | 0.00000343 | 776 |
| Missense (PolyPhen) | 9 | 12.539 | 0.71779 | 162 | ||
| Synonymous | 1.33 | 14 | 21.9 | 0.639 | 0.00000119 | 199 |
| Loss of Function | 1.04 | 4 | 6.97 | 0.574 | 4.54e-7 | 59 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000027 | 0.000026 | rare |
| South Asian | 0.000066 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Regulatory subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs (PubMed:22099306, PubMed:27422871). Promotes the recruitment of the methyl donor, S- adenosyl-L-methionine, to RNMT (PubMed:27422871). Regulates RNMT expression by a post-transcriptional stabilizing mechanism (PubMed:22099306). Binds RNA (PubMed:22099306). {ECO:0000269|PubMed:22099306, ECO:0000269|PubMed:27422871}.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- RVIS EVS
- 0.26
- RVIS percentile EVS
- 70.06
Essentials
- Essential (gene trap)
- N