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SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] See more...
Aliases for SLC25A45 Gene
Aliases for SLC25A45 Gene
External Ids for SLC25A45 Gene
- HGNC: 27442
- NCBI Entrez Gene: 283130
- Ensembl: ENSG00000162241
- OMIM®: 610825
- UniProtKB/Swiss-Prot: Q8N413
Previous GeneCards Identifiers for SLC25A45 Gene
- GC11M064900
- GC11M065142
- GC11M061469
Summaries for SLC25A45 Gene
-
SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
GeneCards Summary for SLC25A45 Gene
SLC25A45 (Solute Carrier Family 25 Member 45) is a Protein Coding gene. Diseases associated with SLC25A45 include Developmental And Epileptic Encephalopathy 39 and Hartnup Disorder. An important paralog of this gene is SLC25A48.
Additional gene information for SLC25A45 Gene
- HGNC (27442)
- NCBI Entrez Gene (283130)
- Ensembl (ENSG00000162241)
- OMIM® (610825)
- UniProtKB/Swiss-Prot (Q8N413)
- Open Targets Platform(ENSG00000162241)
- Search for SLC25A45 at DataMed
- Search for SLC25A45 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A45 Gene
Genomics for SLC25A45 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLC25A45 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SLC25A45 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A45
- Top Transcription factor binding sites by QIAGEN in the SLC25A45 gene promoter:
-
- AREB6
- ATF6
- CUTL1
- HNF-4alpha1
- HNF-4alpha2
- HSF2
- Lmo2
- Pax-4a
- RP58
- Sp1
Genomic Locations for SLC25A45 Gene
Latest Assembly
- chr11:65,375,192-65,383,701
- (GRCh38/hg38)
- Size:
- 8,510 bases
- Orientation:
- Minus strand
Previous Assembly
- chr11:65,142,663-65,151,172
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 8,510 bases
- Orientation:
- Minus strand
- chr11:65,142,663-65,151,172
- (GRCh37/hg19 by Ensembl)
- Size:
- 8,510 bases
- Orientation:
- Minus strand
Genomic View for SLC25A45 Gene
Genes around SLC25A45 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.1 by HGNC
- 11q13.1 by Entrez Gene
- 11q13.1 by Ensembl
SLC25A45 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 SLC25A45 Gene
Proteins for SLC25A45 Gene
-
Protein details for SLC25A45 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N413-S2545_HUMAN
- Recommended name:
- Solute carrier family 25 member 45
- Protein Accession:
- Q8N413
- Q6PL49
- Q8IW29
Protein attributes for SLC25A45 Gene
- Size:
- 288 amino acids
- Molecular mass:
- 31906 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC25A45 Gene
Post-translational modifications for SLC25A45 Gene
No Post-translational modifications
Other Protein References for SLC25A45 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for SLC25A45
- Novus Biologicals Antibodies for SLC25A45
-
Abcam antibodies for SLC25A45
- Invitrogen Antibodies for SLC25A45 (AFLGC-SLC25A45)
- antibodies-online: Show 3 available SLC25A45 Antibodies ranked by validation data
- Compare Top SLC25A45 Antibodies
-
Quality Products:
-
Custom Antibody ServicesProSci Antibodies for SLC25A45
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC25A45
Protein products for research
-
OriGene Purified Proteins for SLC25A45
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC25A45
- Origene Custom Protein Services for SLC25A45
- antibodies-online: Show 3 available SLC25A45 Proteins ranked by validation data
- Compare Top SLC25A45 Proteins
-
Quality Products:
-
Abcam proteins for SLC25A45
Assay products for research
No data available for DME Specific Peptides for SLC25A45 Gene
Domains & Families for SLC25A45 Gene
Gene Families for SLC25A45 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for SLC25A45 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC25A45 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ33871 fis, clone CTONG2006836, weakly similar to MITOCHONDRIAL CARNITINE/ACYLCARNITINE CARRIER PROTEIN (B3KR90_HUMAN)
- Solute carrier family 25 member 45 (S2545_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8N413- Family:
-
- Belongs to the mitochondrial carrier (TC 2.A.29) family.
Function for SLC25A45 Gene
Phenotypes From GWAS Catalog for SLC25A45 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005347 | ATP transmembrane transporter activity | IEA | -- |
| GO:0015227 | acyl carnitine transmembrane transporter activity | IBA | 21873635 |
Phenotypes for SLC25A45 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SLC25A45 - Starting at $85 >
- * SLC25A45 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SLC25A45
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC25A45
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A45
miRNA for SLC25A45 Gene
- miRTarBase miRNAs that target SLC25A45
-
- hsa-miR-665 (MIRT503406)
- hsa-miR-887-5p (MIRT503407)
- hsa-miR-6780a-5p (MIRT503408)
- hsa-miR-6779-5p (MIRT503409)
- hsa-miR-3689c (MIRT503410)
- hsa-miR-3689b-3p (MIRT503411)
- hsa-miR-3689a-3p (MIRT503412)
- hsa-miR-30b-3p (MIRT503413)
- hsa-miR-1273h-5p (MIRT503414)
- hsa-miR-6788-5p (MIRT503415)
- hsa-miR-30c-2-3p (MIRT503416)
- hsa-miR-30c-1-3p (MIRT503417)
- hsa-miR-1273e (MIRT503418)
- hsa-miR-6799-5p (MIRT503419)
- hsa-miR-6883-5p (MIRT503420)
- hsa-miR-6785-5p (MIRT503421)
- hsa-miR-4728-5p (MIRT503422)
- hsa-miR-149-3p (MIRT503423)
- hsa-miR-7106-5p (MIRT503424)
- hsa-miR-5192 (MIRT503425)
- hsa-miR-7160-5p (MIRT503426)
- hsa-miR-4722-5p (MIRT503427)
- hsa-miR-6884-5p (MIRT503428)
- hsa-miR-485-5p (MIRT503429)
- hsa-miR-1827 (MIRT503430)
- hsa-miR-4649-3p (MIRT503431)
- hsa-miR-4768-3p (MIRT503432)
- hsa-miR-4478 (MIRT503433)
- hsa-miR-4419b (MIRT503434)
- hsa-miR-3929 (MIRT503435)
- hsa-miR-940 (MIRT503436)
- hsa-miR-6893-5p (MIRT503437)
- hsa-miR-6808-5p (MIRT503438)
- hsa-miR-890 (MIRT503439)
- hsa-miR-5010-3p (MIRT514787)
- hsa-miR-2113 (MIRT514788)
- hsa-miR-6855-5p (MIRT514789)
- hsa-miR-3170 (MIRT514790)
- hsa-miR-411-5p (MIRT514791)
- hsa-miR-4775 (MIRT514792)
- hsa-miR-6832-5p (MIRT514793)
- hsa-miR-193b-5p (MIRT514794)
- hsa-miR-1273f (MIRT514795)
- hsa-miR-4735-5p (MIRT514796)
- hsa-miR-6890-5p (MIRT514797)
- hsa-miR-590-3p (MIRT514798)
- hsa-miR-6125 (MIRT514799)
- hsa-miR-7156-3p (MIRT541641)
- hsa-miR-1184 (MIRT541642)
- hsa-miR-1304-3p (MIRT541643)
- hsa-miR-4726-3p (MIRT541644)
- hsa-miR-6764-5p (MIRT541645)
- hsa-miR-1915-3p (MIRT541646)
- hsa-miR-6840-3p (MIRT541647)
- hsa-miR-6890-3p (MIRT541648)
- hsa-miR-4714-3p (MIRT541649)
- hsa-miR-548o-3p (MIRT541650)
- hsa-miR-1323 (MIRT541651)
- hsa-miR-509-5p (MIRT541652)
- hsa-miR-4418 (MIRT541653)
- hsa-miR-509-3-5p (MIRT541654)
- hsa-miR-3680-5p (MIRT541655)
- hsa-miR-6750-3p (MIRT541656)
- hsa-miR-5690 (MIRT549857)
- hsa-miR-450b-5p (MIRT609403)
- hsa-miR-4439 (MIRT609404)
- hsa-miR-3136-5p (MIRT609405)
- hsa-miR-3118 (MIRT609406)
- hsa-miR-134-5p (MIRT609407)
- hsa-miR-6857-3p (MIRT609408)
- hsa-miR-6855-3p (MIRT609409)
- hsa-miR-4513 (MIRT609410)
- hsa-miR-4526 (MIRT609411)
- hsa-miR-3660 (MIRT609412)
- hsa-miR-6736-3p (MIRT609413)
- hsa-miR-888-3p (MIRT609414)
- hsa-miR-3121-5p (MIRT622232)
- hsa-miR-1306-5p (MIRT622233)
- hsa-miR-4703-3p (MIRT622234)
- hsa-miR-6829-3p (MIRT622235)
- hsa-miR-6791-3p (MIRT622236)
- hsa-miR-1976 (MIRT622237)
- hsa-miR-3653-5p (MIRT622238)
- hsa-miR-6747-3p (MIRT622239)
- hsa-miR-6727-3p (MIRT622240)
- hsa-miR-4722-3p (MIRT622241)
- hsa-miR-1244 (MIRT622242)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC25A45
- Browse OriGene Inhibitory RNA Products For SLC25A45
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A45
Clone products for research
- Applied Biological Materials (abm): Clones for SLC25A45 - Starting at $45 >
- * SLC25A45 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SLC25A45
- Addgene plasmids for SLC25A45
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC25A45
Cell Lines for research
-
Horizon Cell Lines for SLC25A45
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A45 Gene
Localization for SLC25A45 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC25A45 Gene
- Mitochondrion inner membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 4 |
| nucleus | 2 |
| cytosol | 2 |
| extracellular | 1 |
| lysosome | 1 |
| plasma membrane | 0 |
| peroxisome | 0 |
| endoplasmic reticulum | 0 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for SLC25A45 Gene
Interacting Proteins for SLC25A45 Gene
GPS-Prot Interaction Network for SLC25A45
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006844 | acyl carnitine transport | IBA | 21873635 |
| GO:0006865 | amino acid transport | IBA | 21873635 |
| GO:0055085 | transmembrane transport | IEA | -- |
| GO:1902616 | acyl carnitine transmembrane transport | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for SLC25A45 Gene
Transcripts for SLC25A45 Gene
mRNA/cDNA for SLC25A45 Gene
- 9 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000294187 2196 nts (view in UCSC)
- ENST00000398802 2286 nts (view in UCSC)
- ENST00000524438 603 nts (view in UCSC)
- ENST00000525944 676 nts (view in UCSC)
- ENST00000526259 572 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SLC25A45 - Starting at $85 >
- * SLC25A45 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SLC25A45
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC25A45
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A45
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC25A45
- Browse OriGene Inhibitory RNA Products For SLC25A45
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A45
Clone products for research
- Applied Biological Materials (abm): Clones for SLC25A45 - Starting at $45 >
- * SLC25A45 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SLC25A45
- Addgene plasmids for SLC25A45
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC25A45
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | · | 2f | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - |
Relevant External Links for SLC25A45 Gene
- GeneLoc Exon Structure for
- SLC25A45
Expression for SLC25A45 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for SLC25A45 Gene
This gene is overexpressed in Pancreas (x5.2).
This gene is overexpressed in Peripheral blood mononuclear cells (66.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC25A45 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A45
SOURCE GeneReport for Unigene cluster for SLC25A45 Gene:
Hs.661604Evidence on tissue expression from TISSUES for SLC25A45 Gene
- Pancreas(4.3)
Primer products for research
-
OriGene qPCR primer pairs for SLC25A45
-
OriGene qPCR primer pairs and template standards for SLC25A45
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A45 Gene
Orthologs for SLC25A45 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC25A45 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC25A45 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC25A45 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc25a45 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Slc25a45 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC25A45 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC25A45 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC25A45 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc25a45 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100329446 30 |
|
||
| si:dkey-150i13.2 31 |
|
ManyToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG5646 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | R07B7.10 30 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YMC1 31 |
|
ManyToMany | |
| YMC2 31 |
|
ManyToMany |
- Species where no ortholog for SLC25A45 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- Chicken (Gallus gallus)
- 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)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- 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)
Evolution for SLC25A45 Gene
- ENSEMBL:
- Gene Tree for SLC25A45 (if available)
- TreeFam:
- Gene Tree for SLC25A45 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC25A45: view image
Paralogs for SLC25A45 Gene
Paralogs for SLC25A45 Gene
- SLC25A48 5
- SLC25A47 5
- SLC25A29 5
- SLC25A20 5
- SLC25A15 5
- SLC25A38 5
- SLC25A13 5
- SLC25A2 5
- SLC25A1 5
- SLC25A12 5
- SLC25A21 5
- SLC25A18 5
- SLC25A16 5
- SLC25A34 5
- SLC25A32 5
- SLC25A39 5
- UCP2 5
- UCP3 5
- SLC25A19 5
- SLC25A22 5
- SLC25A6 5
- SLC25A37 5
- SLC25A11 5
- ENSG00000262660 5
- SLC25A23 5
- SLC25A5 5
- SLC25A27 5
- SLC25A40 5
- SLC25A26 5
- UCP1 5
- SLC25A4 5
- SLC25A30 5
- SLC25A33 5
- SLC25A35 5
- SLC25A14 5
- SLC25A25 5
- SLC25A28 5
- SLC25A31 5
- SLC25A24 5
- SLC25A42 5
- ENSG00000285982 5
- SLC25A3 5
- SLC25A41 5
- SLC25A43 5
- SLC25A36 5
- SLC25A10 5
- SLC25A17 5
- SLC25A53 5
- SLC25A51 5
- SLC25A52 5
- SLC25A44 5
(13) SIMAP similar genes for SLC25A45 Gene using alignment to 6 proteins:
- S2545_HUMAN
- E9PJ15_HUMAN
- E9PJQ3_HUMAN
- E9PJW2_HUMAN
- E9PK53_HUMAN
- E9PMF0_HUMAN
Variants for SLC25A45 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
88.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.85;
58.77% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC25A45 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SLC25A45
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A45 Gene
Disorders for SLC25A45 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| developmental and epileptic encephalopathy 39 |
|
|
| hartnup disorder |
|
|
Search SLC25A45 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SLC25A45
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A45 Gene
Publications for SLC25A45 Gene
- Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PMID: 16949250) Haitina T … Fredriksson R (Genomics 2006) 2 3 4
- ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. (PMID: 30232004) Abraham CG … Espinosa JM (Cell reports 2018) 3
- Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. (PMID: 24159190) Seppälä I … AtheroRemo Consortium (European heart journal 2014) 3
- The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PMID: 23266187) Palmieri F (Molecular aspects of medicine 2013) 3
- Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
ExternalLinks
Products for SLC25A45 Gene
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Sources for SLC25A45 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
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- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (71) GenomeRNAi
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- (104) diseasecard
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