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MTCH2 - ENSG00000109919

mitochondrial carrier 2

Also known as: SLC25A50

Location: chr11:47,638,867-47,664,175 reverse strand

Gene Type: protein coding

More information
NCBI Gene
23788
HUGO
HGNC:17587
Ensembl
ENSG00000109919
VEGA
OTTHUMG00000166926
OMIM
613221
UniProtKB
Q9Y6C9

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

To add tracks, use the provided link to switch to the full genome browser view.

Gene-based Trait Associations

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ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

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Accession Population N SNPs p-value Sign. Level rho CMAF CMAC Covariates Variant Filter Caveats
NG00065 Meta 26 0.094 N/A 1 3.2e-03 70.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 European 24 0.123 N/A 1 3.0e-03 63.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Meta 26 0.142 N/A 1 3.2e-03 70.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 24 0.177 N/A 1 3.0e-03 63.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 2 0.307 N/A 1 9.6e-05 2.0 PCs and sequencing center VEP HIGH
NG00065 European 1 0.360 N/A 0 4.8e-05 1.0 PCs and sequencing center LOF
NG00065 European 1 0.367 N/A 0 4.8e-05 1.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF
NG00065 European 2 0.376 N/A 1 9.6e-05 2.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 European 1 0.378 N/A 0 4.8e-05 1.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 European 2 0.394 N/A 1 9.6e-05 2.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 Meta 26 0.487 N/A 1 3.2e-03 70.0 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 24 0.576 N/A 1 3.0e-03 63.0 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 4 0.634 N/A 1 8.9e-03 7.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH
NG00065 Caribbean Hispanic 4 0.664 N/A 1 8.9e-03 7.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH
NG00065 Caribbean Hispanic 4 0.682 N/A 1 8.9e-03 7.0 PCs and sequencing center VEP MOD-HIGH

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the MTCH2 gene.

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The MTCH2 gene contains 1,637 variants records (corresponding to 1,552 unique genomic positions).

The following variants, contained within ±100kb of MTCH2, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of MTCH2 that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

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Relative Position Variant ADSP? Allele p-Value Track Accession
in gene N/A 2.8e-15 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
in gene N/A 2.8e-15 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
in gene N/A 2.8e-15 ADSP Single-Variant Risk Association: European (Model 1) NG00065
downstream N/A 3.6e-14 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
downstream N/A 3.6e-14 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
downstream N/A 3.6e-14 ADSP Single-Variant Risk Association: European (Model 1) NG00065
in gene N/A 8.6e-14 ADSP Single-Variant Risk Association: European (Model 1) NG00065
in gene N/A 8.6e-14 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
in gene N/A 8.6e-14 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
in gene N/A 1.9e-13 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 2) NG00065
in gene N/A 1.9e-13 ADSP Single-Variant Risk Association: meta analysis (Model 2) NG00065
in gene N/A 1.9e-13 ADSP Single-Variant Risk Association: European (Model 2) NG00065
downstream N/A 9.5e-13 ADSP Single-Variant Risk Association: meta analysis (Model 2) NG00065
downstream N/A 9.5e-13 ADSP Single-Variant Risk Association: European (Model 2) NG00065
downstream N/A 9.5e-13 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 2) NG00065
upstream C 1.1e-8 IGAP 2013: Stages 1 and 2 NG00036

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of MTCH2 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of MTCH2, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of MTCH2 that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of MTCH2 that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

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Explore all functional genomics annotations within the region of the MTCH2 gene (chr11:47638867-47664175)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

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Ontology GO Accession Term Evidence Code
BP GO:0071478 cellular response to radiation IEA
BP GO:0090152 establishment of protein localization to mitochondrial membrane involved in mitochondrial fission IEA
BP GO:0061484 hematopoietic stem cell homeostasis IEA
BP GO:0035701 hematopoietic stem cell migration IEA
BP GO:0097284 hepatocyte apoptotic process IEA
BP GO:0006089 lactate metabolic process IEA
BP GO:0042775 mitochondrial ATP synthesis coupled electron transport IEA
BP GO:0045820 negative regulation of glycolytic process IEA
BP GO:0010917 negative regulation of mitochondrial membrane potential IEA
BP GO:0043065 positive regulation of apoptotic process IBA
BP GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
BP GO:1902231 positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage IEA
BP GO:0070585 protein localization to mitochondrion IEA,IMP
BP GO:1902108 regulation of mitochondrial membrane permeability involved in apoptotic process IEA
BP GO:0006810 transport IEA
CC GO:0070062 extracellular exosome IDA
CC GO:0016021 integral component of membrane IEA
CC GO:0016020 membrane IDA,IBA,IEA
CC GO:0005743 mitochondrial inner membrane IEA
CC GO:0005741 mitochondrial outer membrane IEA
CC GO:0005739 mitochondrion IEA,IBA
CC GO:0005634 nucleus IDA

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.