MTLN
protein-codingmitoregulin
Gene summary
Involved in several processes, including obsolete positive regulation of sequestering of calcium ion; positive regulation of mitochondrial membrane potential; and triglyceride homeostasis. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]
- NCRNA00116
- LINC00116
- SMIM37
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~33.9 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 MTLN variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001384134.1. 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 | 1 | 1 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 1 | 0 | 0 | 1 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001371063.1 | 1 | MANE Select | |
| Ensembl | ENSP00000485064.1 | 1 | MANE Select | |
| Ensembl | ENSP00000485216.1 | 1 | Standard | |
| Ensembl | ENSP00000485373.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- positive regulation of mitochondrial membrane potential
- positive regulation of protein complex assembly
- positive regulation of sequestering of calcium ion
Cellular Component
- integral component of mitochondrial inner membrane
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Positively regulates mitochondrial complex assembly and/or stability (By similarity). Increases mitochondrial membrane potential and mitochondrial respiration rate awhile decreasing mitochondrial reactive oxygen species (PubMed:29949756). Also increases mitochondrial calcium retention capacity (PubMed:29949756). {ECO:0000250|UniProtKB:Q8BT35, ECO:0000269|PubMed:29949756}.;