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MTCH2 mitochondrial carrier 2 [ Homo sapiens (human) ]

Gene ID: 23788, updated on 4-Nov-2018

Summary

Official Symbol
MTCH2provided by HGNC
Official Full Name
mitochondrial carrier 2provided by HGNC
Primary source
HGNC:HGNC:17587
See related
Ensembl:ENSG00000109919 MIM:613221; Vega:OTTHUMG00000166926
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MIMP; HSPC032; SLC25A50
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]
Expression
Ubiquitous expression in kidney (RPKM 24.0), testis (RPKM 21.8) and 25 other tissues See more
Orthologs

Genomic context

See MTCH2 in Genome Data Viewer
Location:
11p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (47604309..47642654, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47638858..47664206, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 180 member B Neighboring gene C1q and TNF related 4 Neighboring gene ATP/GTP binding protein like 2 Neighboring gene formin binding protein 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr is identified to have a physical interaction with mitochondrial carrier 2 (MTCH2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
positive regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus HDA PubMed 

General protein information

Preferred Names
mitochondrial carrier homolog 2
Names
2310034D24Rik
met-induced mitochondrial protein
solute carrier family 25, member 50

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001317231.1NP_001304160.1  mitochondrial carrier homolog 2 isoform 1x

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the longer, C-terminally extended isoform (1x). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
    Source sequence(s)
    AC104942, AK313032, AY380792, DB482853
    UniProtKB/Swiss-Prot
    Q9Y6C9
    Conserved Domains (1) summary
    pfam00153
    Location:128192
    Mito_carr; Mitochondrial carrier protein
  2. NM_001317232.1NP_001304161.1  mitochondrial carrier homolog 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon in the 5' region compared to variant 1. The resulting isoform (2) is shorter, missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AC104942, AK313032, AY380792, BQ960010, DB482853
    UniProtKB/Swiss-Prot
    Q9Y6C9
    Related
    ENSP00000432043.1, OTTHUMP00000234442, ENST00000530428.1, OTTHUMT00000391925
    Conserved Domains (1) summary
    pfam00153
    Location:119183
    Mito_carr; Mitochondrial carrier protein
  3. NM_001317233.1NP_001304162.1  mitochondrial carrier homolog 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' region, which results in translation initiation from an in-frame, downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC104942, AK295218, AK313032, AY380792, DB482853
    UniProtKB/Swiss-Prot
    Q9Y6C9
    UniProtKB/TrEMBL
    B4DHQ0
    Conserved Domains (1) summary
    pfam00153
    Location:144
    Mito_carr; Mitochondrial carrier protein
  4. NM_014342.3NP_055157.1  mitochondrial carrier homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_055157.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the shorter isoform (1).
    Source sequence(s)
    AC104942, AK313032, AY380792, DB482853
    Consensus CDS
    CCDS7943.1
    UniProtKB/Swiss-Prot
    Q9Y6C9
    Related
    ENSP00000303222.3, OTTHUMP00000234441, ENST00000302503.7, OTTHUMT00000391921
    Conserved Domains (1) summary
    pfam00153
    Location:128192
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    47604309..47642654 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519959.2XP_011518261.1  mitochondrial carrier homolog 2 isoform X1

    Conserved Domains (1) summary
    pfam00153
    Location:128192
    Mito_carr; Mitochondrial carrier protein
  2. XM_011519960.3XP_011518262.1  mitochondrial carrier homolog 2 isoform X2

    Conserved Domains (1) summary
    pfam00153
    Location:119183
    Mito_carr; Mitochondrial carrier protein
  3. XM_011519961.2XP_011518263.1  mitochondrial carrier homolog 2 isoform X3

    Conserved Domains (1) summary
    pfam00153
    Location:128192
    Mito_carr; Mitochondrial carrier protein
  4. XM_006718172.2XP_006718235.1  mitochondrial carrier homolog 2 isoform X4

    See identical proteins and their annotated locations for XP_006718235.1

    Conserved Domains (1) summary
    pfam00153
    Location:128192
    Mito_carr; Mitochondrial carrier protein
  5. XM_017017462.2XP_016872951.1  mitochondrial carrier homolog 2 isoform X5

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_019805496.1 Reference GRCh38.p12 PATCHES

    Range
    45132..75020 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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