MTERF4
protein-codingmitochondrial transcription termination factor 4
Gene summary
Enables RNA folding chaperone; protein-RNA adaptor activity; and rRNA binding activity. Involved in mitochondrial large ribosomal subunit assembly and rRNA processing. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]
- MTERFD2
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~30.2 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 MTERF4 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_182501.4. 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 | 52 | 5 | 57 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 53 | 5 | 0 | 58 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_872307.2 | 4 | MANE Select | |
| Ensembl | ENSP00000375840.2 | 4 | MANE Select | |
| RefSeq | NP_001317108.1 | 2 | Standard | |
| RefSeq | NP_001317109.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- rRNA processing
- rRNA modification in the mitochondrion
- Metabolism of RNA
- rRNA processing in the mitochondrion
Biological Process
- regulation of transcription, DNA-templated
- mitochondrial transcription
- protein targeting to mitochondrion
- heart development
- rRNA methylation
Molecular Function
- double-stranded DNA binding
- protein binding
- rRNA binding
Cellular Component
- mitochondrion
- mitochondrial matrix
- mitochondrial large ribosomal subunit
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000391980
- Coding exons
- 4
- Length
- 30164
- Individuals with no LoFs
- 125687
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 61
- Defined
- 125748
- p
- 0.000243
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.561 | 188 | 211 | 0.891 | 0.0000115 | 2533 |
| Missense (PolyPhen) | 50 | 55.788 | 0.89626 | 707 | ||
| Synonymous | -0.429 | 88 | 83.0 | 1.06 | 0.00000482 | 709 |
| Loss of Function | 1.29 | 9 | 14.2 | 0.632 | 7.57e-7 | 166 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.00014 | 0.00014 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.000092 | 0.000092 | rare |
| European (Non-Finnish) | 0.00038 | 0.00038 | rare |
| South Asian | 0.000098 | 0.000098 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Regulator of mitochondrial ribosome biogenesis and translation. Binds to mitochondrial ribosomal RNAs 16S, 12S and 7S and targets NSUN4 RNA methyltransferase to the mitochondrial large ribosomal subunit (39S). {ECO:0000269|PubMed:21531335}.;
Recessive Scores
- pRec
- 0.0778
Intolerance Scores
- RVIS EVS
- 0.24
- RVIS percentile EVS
- 69.37
Essentials
- Essential (gene trap)
- E