MTCH2
mitochondrial carrier 2
Summary
This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target that can produce two isoforms from the same mRNA by use of alternative in-frame translation termination codons. [provided by RefSeq, Dec 2017]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10769282 | 11:47,626,492 | T/C | — | — |
| rs147238791 | 11:47,637,815 | C/T | downstream gene variant | — |
| rs747861828 | 11:47,640,410 | C/A | — | uncertain significance |
| rs1064608 | 11:47,640,429 | G/T | missense variant | — |
| rs3817335 | 11:47,643,891 | T/A | intron variant | — |
| rs751558199 | 11:47,644,320 | C/G | — | uncertain significance |
| rs544100641 | 11:47,647,250 | T/C | — | uncertain significance |
| rs4752856 | 11:47,648,042 | G/A | intron variant | — |
| rs777569165 | 11:47,650,551 | C/T | — | uncertain significance |
| rs3817334 | 11:47,650,993 | C/T | intron variant | — |
| rs373148624 | 11:47,652,135 | G/A | — | uncertain significance |
| rs760290255 | 11:47,652,603 | C/T | — | uncertain significance |
| rs149770550 | 11:47,652,637 | T/C | — | uncertain significance |
| rs2097303200 | 11:47,653,247 | A/G | — | uncertain significance |
| rs191499924 | 11:47,656,276 | G/A | — | uncertain significance |
| rs558556021 | 11:47,657,101 | C/T | — | uncertain significance |
| rs12794570 | 11:47,658,314 | C/T | intron variant | — |
| rs535509972 | 11:47,660,325 | C/T | — | uncertain significance |
| rs772852470 | 11:47,660,527 | A/G | — | uncertain significance |
| rs765907399 | 11:47,660,533 | C/T | — | uncertain significance |
| rs2509855345 | 11:47,660,548 | A/C | — | uncertain significance |
| rs1302866762 | 11:47,660,555 | G/A | — | uncertain significance |
| rs777653897 | 11:47,660,575 | A/G | — | uncertain significance |
| rs2509855609 | 11:47,660,578 | G/A | — | uncertain significance |
| rs7129948 | 11:47,661,498 | C/A | intron variant | — |
| rs11039322 | 11:47,662,589 | C/T | regulatory region variant | — |
| rs10838738 | 11:47,663,049 | A/G | intron variant | — |
| rs745454467 | 11:47,663,972 | T/G | — | uncertain significance |
| rs11039324 | 11:47,665,686 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.