MTLN

mitoregulin

Basic information

Region (hg38): 2:110211528-110245420

Previous symbols: [ "NCRNA00116", "LINC00116", "SMIM37" ]

Links

ENSG00000175701

∙ NCBI:205251 ∙ ∙ HGNC:27339 ∙ Uniprot:Q8NCU8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MTLN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTLN gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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}.;

Gene ontology

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
Molecular function