MTCH2 mitochondrial carrier 2 [Homo sapiens] - Gene

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Summary

Official Symbol: MTCH2provided by HGNC
Official Full Name: mitochondrial carrier 2provided by HGNC
Primary source: HGNC:17587
Locus tag: HSPC032
See related: Ensembl:ENSG00000109919; HPRD:14788; MIM:613221; Vega:OTTHUMG00000166926
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MIMP; HSPC032; SLC25A50

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Genomic context

Location :: 11p11.2

Sequence :: Chromosome: 11; NC_000011.9 (47638858..47664206, complement)

See MTCH2 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

MTCH2 may play a role in cellular processes underlying obesity
Title: MTCH2 in human white adipose tissue and obesity.
MTCH2 rs 10838738 is associated with higher body mass index.
Title: Novel obesity risk loci do not determine distribution of body fat depots: a whole-body MRI/MRS study.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: MC4R variant is associated with BMI but not response to resistance training in young females.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
Mtch2 is a mitochondrial target of tBID and possibly participates in the mitochondrial apoptotic program.
Title: Mitochondrial carrier homolog 2 is a target of tBID in cells signaled to die by tumor necrosis factor alpha.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9Y6C9	P03372	ESR1	HPRD	PubMed
BioGRID:117287	BioGRID:108403	ESR1	BioGRID	PubMed	Two-hybrid
BioGRID:117287	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:117287	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Process	Evidence Code	Pubs
transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: mitochondrial carrier homolog 2

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

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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)

NM_014342.3 → NP_055157.1 mitochondrial carrier homolog 2

Status: VALIDATED

Source sequence(s)

AC104942, AK313032, AY380792, DB482853

Consensus CDS

CCDS7943.1

UniProtKB/Swiss-Prot

Q9Y6C9

Related

ENSP00000303222, OTTHUMP00000234441, ENST00000302503, OTTHUMT00000391921

Conserved Domains (1) summary

pfam00153
Location:128 – 192
Blast Score: 149

Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

47638858..47664206, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

47340003..47369889, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC104942.5 (89429..114634)	None
genomic	CH471064.2	EAW67892.1
genomic	CQ871294.1	CAH56828.1
genomic	CS488907.1	CAM55981.1
mRNA	AF085361.1	AAD40196.1
mRNA	AF176008.1	AAD52646.1
mRNA	AK223097.1	BAD96817.1
mRNA	AK295218.1	BAG58212.1
mRNA	AK313032.1	BAG35865.1
mRNA	AY380792.1	AAQ88168.1
mRNA	BC000875.1	AAH00875.1
mRNA	DB482853.1	None
other-genetic	DQ891810.2	ABM82736.1
other-genetic	DQ894993.2	ABM85919.1