Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
291
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 25 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC25A4
Synonyms (NCBI Gene) Gene synonyms aliases
AAC1, ANT, ANT 1, ANT1, MTDPS12, MTDPS12A, PEO2, PEO3, PEOA2, T1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q35.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix i
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28999114 A>G Pathogenic Missense variant, coding sequence variant
rs104893873 G>C Pathogenic Missense variant, coding sequence variant
rs104893874 G>A Pathogenic Missense variant, coding sequence variant
rs104893876 T>C Pathogenic Missense variant, coding sequence variant
rs121912683 C>A Pathogenic, uncertain-significance, likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051905 hsa-let-7b-5p CLASH 23622248
MIRT043491 hsa-miR-331-3p CLASH 23622248
MIRT040699 hsa-miR-92b-3p CLASH 23622248
MIRT615925 hsa-miR-590-3p HITS-CLIP 23824327
MIRT615924 hsa-miR-5196-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005471 Function ATP:ADP antiporter activity IDA 21586654
GO:0005471 Function ATP:ADP antiporter activity IEA
GO:0005515 Function Protein binding IPI 16507998, 21370995, 24316735, 24725412, 31883789, 33961781
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
103220 10990 ENSG00000151729
Protein
UniProt ID P12235
Protein name ADP/ATP translocase 1 (ADP,ATP carrier protein 1) (ADP,ATP carrier protein, heart/skeletal muscle isoform T1) (Adenine nucleotide translocator 1) (ANT 1) (Solute carrier family 25 member 4)
Protein function ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (PubMed:21586654, PubMed:27693233). Cycles between the cytoplasmic-open state (c-state) and the matrix-open st
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 4 103 Mitochondrial carrier protein Family
PF00153 Mito_carr 109 206 Mitochondrial carrier protein Family
PF00153 Mito_carr 204 298 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in erythrocytes (at protein level). {ECO:0000269|PubMed:27641616}.
Sequence
Sequence length 298
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Calcium signaling pathway
cGMP-PKG signaling pathway
Necroptosis
Cellular senescence
Neutrophil extracellular trap formation
Alzheimer disease
Parkinson disease
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Influenza A
Human T-cell leukemia virus 1 infection
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Mitochondrial protein import
Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiomyopathic Mitochondrial DNA Depletion Syndrome mitochondrial dna depletion syndrome 12a (cardiomyopathic type), autosomal dominant, mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive rs886041082, rs886041080, rs770816416, rs1560841701, rs121912683, rs398122942, rs863224209, rs886041081 N/A
progressive external ophthalmoplegia with mitochondrial dna deletions Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 rs104893873, rs104893874, rs104893876, rs28999114, rs863224209 N/A
Fatal Mitochondrial Disease Mitochondrial disease rs886041081, rs886041082 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer specific mortality in estrogen receptor positive breast cancer N/A N/A GWAS
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Restrictive cardiomyopathy restrictive cardiomyopathy N/A N/A ClinVar
Sengers syndrome Sengers syndrome N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 36030628
Atherosclerosis Associate 40053030
Atrophy Associate 35477912
Carcinoma Renal Cell Associate 32461965
Cardiomyopathies Associate 18809618, 23401503, 27693233, 30165862
Cardiomyopathy Dilated Associate 16107323
Cognition Disorders Associate 28690391
Colonic Neoplasms Inhibit 36254139
Congenital Abnormalities Associate 19687137
Death Associate 19687137