Aliases for SLC25A4 Gene
Aliases for SLC25A4 Gene
- Solute Carrier Family 25 Member 4 2 3 4 5
- Solute Carrier Family 25 (Mitochondrial Carrier; Adenine Nucleotide Translocator), Member 4 2 3
- ADP,ATP Carrier Protein 1 3 4
- ANT 1 3 4
- ANT1 3 4
- ADP,ATP Carrier Protein, Heart/Skeletal Muscle Isoform T1 4
- Adenine Nucleotide Translocator 1 (Skeletal Muscle) 3
- ADP,ATP Carrier Protein, Heart/Skeletal Muscle 3
- Heart/Skeletal Muscle ATP/ADP Translocator 3
- Adenine Nucleotide Translocator 1 4
External Ids for SLC25A4 Gene
- HGNC: 10990
- Entrez Gene: 291
- Ensembl: ENSG00000151729
- OMIM: 103220
- UniProtKB: P12235
Previous HGNC Symbols for SLC25A4 Gene
- PEO3
- PEO2
- ANT1
Previous GeneCards Identifiers for SLC25A4 Gene
- GC04P187100
- GC04P186744
- GC04P186648
- GC04P186760
- GC04P186439
- GC04P186301
- GC04P186064
- GC04P181818
Summaries for SLC25A4 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 into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]
GeneCards Summary for SLC25A4 Gene
SLC25A4 (Solute Carrier Family 25 Member 4) is a Protein Coding gene. Diseases associated with SLC25A4 include Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 and Mitochondrial Dna Depletion Syndrome 12B , Autosomal Recessive. Among its related pathways are Metabolism and Transport of the SLBP independent Mature mRNA. Gene Ontology (GO) annotations related to this gene include transporter activity and adenine transmembrane transporter activity. An important paralog of this gene is SLC25A5.
UniProtKB/Swiss-Prot for SLC25A4 Gene
-
Involved in mitochondrial ADP/ATP transport. Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.
Additional gene information for SLC25A4 Gene
- Monarch Initiative
- Search for SLC25A4 at DataMed
- Search for SLC25A4 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A4 Gene
Genomics for SLC25A4 Gene
GeneHancer (GH) Regulatory Elements for SLC25A4 Gene
Promoters and enhancers for SLC25A4 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04I185142 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE dbSUPER | 557.2 | -0.1 | -66 | 2.1 | MLX ARID4B SIN3A YY1 POLR2B ZNF207 ZNF143 SP3 SP5 NFYC | SLC25A4 PRIMPOL CFAP97 LOC105377588 | |
| GH04I185144 | Enhancer | 0.4 | Ensembl dbSUPER | 550.8 | +1.7 | 1660 | 0.2 | SLC25A4 GC04P185149 | ||
| GH04I185115 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 12.3 | -27.1 | -27114 | 0.7 | HDGF ATF1 ARID4B YY1 TCF12 POLR2B GATA2 FOS ATF7 RXRA | SLC25A4 HELT LOC105377588 | |
| GH04I185111 | Enhancer | 1.1 | Ensembl ENCODE dbSUPER | 11.9 | -30.3 | -30327 | 3 | HDAC1 JUN MAX YY1 FOSL1 POLR3A NCOR1 FOSL2 FOS SMARCE1 | SLC25A4 HELT LOC105377588 | |
| GH04I185118 | Enhancer | 0.7 | dbSUPER | 18.5 | -23.2 | -23227 | 2.2 | HDGF ARNT CHAMP1 FOSL1 ZFHX2 ZNF316 EGR1 PATZ1 VEZF1 NFE2 | SLC25A4 HELT LOC105377588 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SLC25A4 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SLC25A4 gene promoter:
Regulatory Element Products
Genomic Locations for SLC25A4 Gene
Genomic Locations for SLC25A4 Gene
- chr4:185,143,241-185,150,384
- (GRCh38/hg38)
- Size:
- 7,144 bases
- Orientation:
- Plus strand
- chr4:186,064,395-186,071,538
- (GRCh37/hg19)
Genomic View for SLC25A4 Gene
Genes around SLC25A4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q35.1 by Ensembl
- 4q35.1 by Entrez Gene
- 4q35.1 by HGNC
SLC25A4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SLC25A4 Gene
Proteins for SLC25A4 Gene
-
Protein details for SLC25A4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P12235-ADT1_HUMAN
- Recommended name:
- ADP/ATP translocase 1
- Protein Accession:
- P12235
- D3DP59
Protein attributes for SLC25A4 Gene
- Size:
- 298 amino acids
- Molecular mass:
- 33064 Da
- Quaternary structure:
-
- Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with ARL2BP (By similarity). Homodimer. Interacts with HIV-1 Vpr.
Protein Expression for SLC25A4 Gene
Post-translational modifications for SLC25A4 Gene
- Ubiquitination at posLast=4343 and isoforms=63
Other Protein References for SLC25A4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SLC25A4
-
Abcam antibodies for SLC25A4
- Invitrogen Antibodies for SLC25A4
- GeneTex SLC25A4 antibody for SLC25A4
Protein Products
-
OriGene Purified Proteins for SLC25A4
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC25A4
- Origene Custom Protein Services for SLC25A4
- Search GeneTex for Proteins for SLC25A4
-
Abcam proteins for SLC25A4
Assay Products
No data available for DME Specific Peptides for SLC25A4 Gene
Domains & Families for SLC25A4 Gene
Gene Families for SLC25A4 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for SLC25A4 Gene
Suggested Antigen Peptide Sequences for SLC25A4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P12235UniProtKB/Swiss-Prot:
ADT1_HUMAN :- The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue.
- Belongs to the mitochondrial carrier (TC 2.A.29) family.
- Domain:
-
- The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue.
- Family:
-
- Belongs to the mitochondrial carrier (TC 2.A.29) family.
Function for SLC25A4 Gene
Molecular function for SLC25A4 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in mitochondrial ADP/ATP transport. Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005471 | ATP:ADP antiporter activity | IBA | -- |
| GO:0005515 | protein binding | IPI | 16507998 |
| GO:0015207 | adenine transmembrane transporter activity | TAS | 2823266 |
| GO:0022857 | transmembrane transporter activity | IEA | -- |
Phenotypes for SLC25A4 Gene
- MGI mutant phenotypes for SLC25A4:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SLC25A4:
-
- Decreased viability
- Decreased hepcidin::fluc mRNA expression
- Mildly decreased CFP-tsO45G cell surface transport
- Increased shRNA abundance (Z-score > 2)
- Increased transferrin (TF) endocytosis
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased viability after Maraba virus infection
- Decreased shRNA abundance (Z-score < -2)
Animal Models for SLC25A4 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC25A4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC25A4 gene
- Search ViGene Biosciences for SLC25A4
CRISPR Products
-
OriGene CRISPR knockouts for SLC25A4
- genomics-online: gRNA clones - Search results for available SLC25A4 gene related products
- Applied Biological Materials CRISPR for SLC25A4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A4
- GenScript: Design CRISPR guide RNA sequences for SLC25A4
miRNA for SLC25A4 Gene
- miRTarBase miRNAs that target SLC25A4
-
- hsa-mir-92b-3p (MIRT040699)
- hsa-mir-331-3p (MIRT043491)
- hsa-let-7b-5p (MIRT051905)
- hsa-mir-6792-3p (MIRT615918)
- hsa-mir-4691-5p (MIRT615919)
- hsa-mir-4775 (MIRT615920)
- hsa-mir-4711-5p (MIRT615921)
- hsa-mir-7112-3p (MIRT615922)
- hsa-mir-4793-5p (MIRT615923)
- hsa-mir-5196-3p (MIRT615924)
- hsa-mir-590-3p (MIRT615925)
miRNA Products
- Search ViGene Biosciences for SLC25A4
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for SLC25A4
- Browse OriGene Inhibitory RNA Products For SLC25A4
- genomics-online: shRNA clones - Search results for available SLC25A4 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC25A4 gene
Clone Products
- Sino Biological Human cDNA Clone for SLC25A4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- genomics-online: cdna clones - Search results for available SLC25A4 gene related products
- orf clones - Search results for available SLC25A4 gene related products
- Applied Biological Materials Clones for SLC25A4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SLC25A4
-
ViGene Biosciences adenoviral particle packaged cDNA for SLC25A4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC25A4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC25A4 gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SLC25A4 Gene
Localization for SLC25A4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC25A4 Gene
- Mitochondrion inner membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| plasma membrane | 4 |
| cytosol | 2 |
| extracellular | 1 |
| peroxisome | 1 |
- Mitochondria (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005739 | mitochondrion | IDA,TAS | -- |
| GO:0005743 | mitochondrial inner membrane | TAS,IEA | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 2823266 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for SLC25A4 Gene
Pathways by source for SLC25A4 Gene
3 BioSystems pathways for SLC25A4 Gene
11 Reactome pathways for SLC25A4 Gene
1 PharmGKB pathway for SLC25A4 Gene
7 KEGG pathways for SLC25A4 Gene
1 GeneGo (Thomson Reuters) pathway for SLC25A4 Gene
2 Qiagen pathways for SLC25A4 Gene
Interacting Proteins for SLC25A4 Gene
Selected Interacting proteins:
ENSP00000281456
P12235-ADT1_HUMAN
for SLC25A4 Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000002 | mitochondrial genome maintenance | TAS | 10926541 |
| GO:0006091 | generation of precursor metabolites and energy | TAS | 2823266 |
| GO:0006810 | transport | TAS,IEA | 2823266 |
| GO:0008637 | apoptotic mitochondrial changes | IEA | -- |
| GO:0015853 | adenine transport | IEA | -- |
No data available for SIGNOR curated interactions for SLC25A4 Gene
Drugs & Compounds for SLC25A4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Clodronate | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor | 10 | ||
| carboxyatractyloside | Experimental | Pharma | Inhibition, Inhibitor, Target | 0 | ||
| [3-(Dodecanoylamino)Propyl](Hydroxy)Dimethylammonium | Experimental | Pharma | Target | 0 | ||
| Cardiolipin | Experimental | Pharma | Target | 0 | ||
| Di-Stearoyl-3-Sn-Phosphatidylcholine | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(1) ApexBio Compounds for SLC25A4 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Atractyloside Dipotassium Salt | ANT inhibitor | 102130-43-8 |
Transcripts for SLC25A4 Gene
mRNA/cDNA for SLC25A4 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (256) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC25A4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SLC25A4
- genomics-online: gRNA clones - Search results for available SLC25A4 gene related products
- Applied Biological Materials CRISPR for SLC25A4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A4
- GenScript: Design CRISPR guide RNA sequences for SLC25A4
miRNA Products
- Search ViGene Biosciences for SLC25A4
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for SLC25A4
- Browse OriGene Inhibitory RNA Products For SLC25A4
- genomics-online: shRNA clones - Search results for available SLC25A4 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC25A4 gene
Clone Products
- Sino Biological Human cDNA Clone for SLC25A4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- genomics-online: cdna clones - Search results for available SLC25A4 gene related products
- orf clones - Search results for available SLC25A4 gene related products
- Applied Biological Materials Clones for SLC25A4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SLC25A4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Choroid Plexus Cells Choroid Plexus
-
Epithelial Cells
- Mature Choroid Plexus Cells Choroid Plexus
-
Skeletal Muscle (Muscoskeletal System)
-
Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for SLC25A4 Gene
This gene is overexpressed in Heart - Left Ventricle (x15.6), Muscle - Skeletal (x8.6), and Heart - Atrial Appendage (x8.5).
This gene is overexpressed in Heart (32.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC25A4 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SLC25A4 Gene:
SLC25A4SOURCE GeneReport for Unigene cluster for SLC25A4 Gene:
Hs.246506Evidence on tissue expression from TISSUES for SLC25A4 Gene
- Nervous system(4.9)
- Eye(4.3)
- Liver(4.3)
- Heart(3.8)
- Muscle(3.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- larynx
- mouth
- neck
- pharynx
- pituitary gland
- vocal cord
Thorax:
- breast
- esophagus
- heart
- heart valve
- lung
Abdomen:
- stomach
Pelvis:
- ovary
- penis
- prostate
- testicle
- uterus
- vagina
- vulva
Limb:
- digit
- foot
- lower limb
- upper limb
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs and template standards for SLC25A4
-
OriGene qPCR primer pairs for SLC25A4
- genomics-online: primer clones - Search results for available SLC25A4 gene related products
No data available for mRNA Expression by UniProt/SwissProt for SLC25A4 Gene
Orthologs for SLC25A4 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC25A4 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SLC25A4 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc25a4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc25a4 33 16 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SLC25A4 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC25A4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC25A4 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SLC25A4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc25a4 33 |
|
||
| MGC75662 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | slc25a4 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | sesB 35 33 34 |
|
||
| Ant2 35 34 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | ADT2_ANOGA 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | K01H12.2 35 |
|
|
|
| T01B11.4 35 |
|
|
|||
| W02D3.6 35 |
|
|
|||
| ant-1.4 34 |
|
ManyToMany | |||
| C47E12.2 35 |
|
|
|||
| F25B4.7 35 |
|
|
|||
| R07E3.4 35 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AAC1 34 |
|
ManyToMany | |
| AAC3 34 |
|
ManyToMany | |||
| PET9 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2354 34 |
|
ManyToMany |
- Species where no ortholog for SLC25A4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for SLC25A4 Gene
Variants for SLC25A4 Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104893873 | pathogenic, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] | 185,144,992(+) | G/C | coding_sequence_variant, missense_variant | |
| rs104893874 | pathogenic, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] | 185,146,939(+) | G/A | coding_sequence_variant, missense_variant | |
| rs104893876 | pathogenic, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] | 185,144,945(+) | T/C | coding_sequence_variant, missense_variant | |
| rs112970805 | benign, Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions | 185,147,144(+) | AT/ | 3_prime_UTR_variant | |
| rs113950388 | likely-benign, Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions | 185,149,500(+) | C/T | 3_prime_UTR_variant |
Residual Variation Intolerance Score:
29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.36;
7.85% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC25A4 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A4 Gene
Disorders for SLC25A4 Gene
(18) MalaCards diseases for SLC25A4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Search SLC25A4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ADT1_HUMAN- Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type (MTDPS12A) [MIM:617184]: An autosomal dominant mitochondrial disorder characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies. {ECO:0000269 PubMed:27693233}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B) [MIM:615418]: An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria. {ECO:0000269 PubMed:16155110, ECO:0000269 PubMed:22187496, ECO:0000269 PubMed:25732997, ECO:0000269 PubMed:27693233}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269 PubMed:10926541, ECO:0000269 PubMed:11756613, ECO:0000269 PubMed:12112115, ECO:0000269 PubMed:12707443, ECO:0000269 PubMed:15792871, ECO:0000269 PubMed:18575922, ECO:0000269 PubMed:27693233}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLC25A4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SLC25A4 Gene
Publications for SLC25A4 Gene
- Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. (PMID: 18575922) Virgilio R … Comi GP (Journal of neurology 2008) 3 4 22 44 58
- A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. (PMID: 15792871) Deschauer M … Zierz S (Neuromuscular disorders : NMD 2005) 3 4 22 58
- A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. (PMID: 11756613) Napoli L … Comi GP (Neurology 2001) 3 4 22 58
- Assignment of the human muscle adenine nucleotide translocator gene (ANT1) to 4q35 by fluorescence in situ hybridization. (PMID: 1582253) Fan YS … Lin CC (Cytogenetics and cell genetics 1992) 2 3 22 58
- Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. (PMID: 27693233) Thompson K … Taylor RW (American journal of human genetics 2016) 3 4 58
Products for SLC25A4 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SLC25A4
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC25A4
- Origene Custom Protein Services for SLC25A4
- Origene shrna and RNAi products in human, mouse, rat for SLC25A4
- Browse OriGene Inhibitory RNA Products For SLC25A4
- OriGene qPCR primer pairs and template standards for SLC25A4
- OriGene qPCR primer pairs for SLC25A4
- OriGene CRISPR knockouts for SLC25A4
- OriGene ORF clones in human for SLC25A4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SLC25A4
- GenScript: Next-day shipping of latest version cDNA ORF clones for SLC25A4 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for SLC25A4
- GenScript Custom Assay Services for SLC25A4
- GenScript Custom overexpressing Cell Line Services for SLC25A4
- GenScript: Design CRISPR guide RNA sequences for SLC25A4
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SLC25A4
- Sino Biological Human cDNA Clone for SLC25A4
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for SLC25A4
- Novus Biologicals lysates and proteins for SLC25A4
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for SLC25A4
- Abcam proteins for SLC25A4
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for SLC25A4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for SLC25A4
- antibodies-online: Search results for 24 available SLC25A4 Antibodies ranked by validation data
- Compare Top SLC25A4 Antibodies
- antibodies-online: Search results for 23 available SLC25A4 Elisa Kits ranked by validation data
- Compare Top SLC25A4 Elisa Kits
- antibodies-online: Search results for 4 available SLC25A4 Proteins ranked by validation data
- Compare Top SLC25A4 Proteins
- GeneTex SLC25A4 antibody for SLC25A4
- Search GeneTex for Proteins for SLC25A4
- ViGene Biosciences adenoviral particle packaged cDNA for SLC25A4 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SLC25A4 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SLC25A4 gene
- Search ViGene Biosciences for SLC25A4
- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for SLC25A4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A4
- Horizon Cell Lines for SLC25A4
- genomics-online: cdna clones - Search results for available SLC25A4 gene related products
- orf clones - Search results for available SLC25A4 gene related products
- genomics-online: gRNA clones - Search results for available SLC25A4 gene related products
- genomics-online: primer clones - Search results for available SLC25A4 gene related products
- genomics-online: shRNA clones - Search results for available SLC25A4 gene related products
Sources for SLC25A4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew