SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by... See more...

Aliases for SLC25A21 Gene

Aliases for SLC25A21 Gene

  • Solute Carrier Family 25 Member 21 2 3 4 5
  • ODC 2 3 4
  • Solute Carrier Family 25 (Mitochondrial Oxodicarboxylate Carrier), Member 21 2 3
  • Solute Carrier Family 25 (Mitochondrial Oxoadipate Carrier), Member 21 2 3
  • Mitochondrial 2-Oxodicarboxylate Carrier 3 4
  • ODC1 2 3
  • Oxodicarboxylate Carrier 3
  • SLC25A21 5
  • MTDPS18 3

External Ids for SLC25A21 Gene

Previous GeneCards Identifiers for SLC25A21 Gene

  • GC14M034529
  • GC14M031006
  • GC14M035139
  • GC14M036218
  • GC14M037148
  • GC14M017261

Summaries for SLC25A21 Gene

Entrez Gene Summary for SLC25A21 Gene

  • SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]

GeneCards Summary for SLC25A21 Gene

SLC25A21 (Solute Carrier Family 25 Member 21) is a Protein Coding gene. Diseases associated with SLC25A21 include Mitochondrial Dna Depletion Syndrome 18 and Tooth Agenesis, Selective, 3. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Metabolism. An important paralog of this gene is SLC25A13.

UniProtKB/Swiss-Prot Summary for SLC25A21 Gene

  • Transports C5-C7 oxodicarboxylates across the inner membranes of mitochondria. Can transport 2-oxoadipate, 2-oxoglutarate, adipate, glutarate, and to a lesser extent, pimelate, 2-oxopimelate, 2-aminoadipate, oxaloacetate, and citrate.

Gene Wiki entry for SLC25A21 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A21 Gene

Genomics for SLC25A21 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A21 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
GH14J037170 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.5 520 3.8 MYC ZNF600 NCOR1 SSRP1 ZMYM3 ATF2 KLF9 CEBPA ZNF10 BRCA1 SLC25A21-AS1 SLC25A21 lnc-NKX2-8-5 PAX9
GH14J036995 Enhancer 1.1 FANTOM5 Ensembl ENCODE 12.9 +175.9 175914 1.4 IKZF1 REST CTBP1 ZNF316 NFE2 TAL1 JUND EHMT2 MAFK ZNF384 MIPOL1 NKX2-8 SLC25A21 HSALNG0100681 piR-33605-148 lnc-NKX2-8-5 PAX9
GH14J036975 Enhancer 1.3 FANTOM5 Ensembl ENCODE 6.8 +196.2 196168 1.7 ZNF654 NCOR1 MYC IKZF1 ZNF592 CEBPB BHLHE40 TBP MAX EP300 MIPOL1 NKX2-8 SLC25A21 lnc-NKX2-8-4 piR-33605-148 lnc-NKX2-8-5 PAX9
GH14J037149 Enhancer 0.6 Ensembl 12.6 +21.9 21922 0.6 ZNF654 REST HOMEZ CTCF RAD21 RFX5 SMC3 ARID3A PPARG ZNF24 SLC25A21 lnc-NKX2-8-5 SLC25A21-AS1 piR-46847-084 PAX9
GH14J036848 Enhancer 0.7 FANTOM5 9.9 +324.3 324287 0.4 NBN PRDM6 YBX1 IRF9 ZNF24 ATF4 ZNF837 SP7 CEBPG MEIS2 HSALNG0100678 LOC107984668 MIPOL1 NKX2-8 SLC25A21 PAX9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A21 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A21

Top Transcription factor binding sites by QIAGEN in the SLC25A21 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • GATA-1
  • Nkx6-1
  • Pbx1a
  • Sox5

Genomic Locations for SLC25A21 Gene

Latest Assembly
chr14:36,677,318-37,172,606
(GRCh38/hg38)
Size:
495,289 bases
Orientation:
Minus strand

Previous Assembly
chr14:37,147,126-37,641,811
(GRCh37/hg19 by Entrez Gene)
Size:
494,686 bases
Orientation:
Minus strand

chr14:37,147,636-37,642,071
(GRCh37/hg19 by Ensembl)
Size:
494,436 bases
Orientation:
Minus strand

Genomic View for SLC25A21 Gene

Genes around SLC25A21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A21 Gene

Proteins for SLC25A21 Gene

  • Protein details for SLC25A21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQT8-ODC_HUMAN
    Recommended name:
    Mitochondrial 2-oxodicarboxylate carrier
    Protein Accession:
    Q9BQT8
    Secondary Accessions:
    • A8K0L0
    • G3V4L5
    • Q3MJ99

    Protein attributes for SLC25A21 Gene

    Size:
    299 amino acids
    Molecular mass:
    33303 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC25A21 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A21 Gene

Post-translational modifications for SLC25A21 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A21 Gene

No data available for DME Specific Peptides for SLC25A21 Gene

Domains & Families for SLC25A21 Gene

Gene Families for SLC25A21 Gene

Protein Domains for SLC25A21 Gene

Suggested Antigen Peptide Sequences for SLC25A21 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 25 member 21 (ODC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BQT8

UniProtKB/Swiss-Prot:

ODC_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A21: view

Function for SLC25A21 Gene

Molecular function for SLC25A21 Gene

UniProtKB/Swiss-Prot Function:
Transports C5-C7 oxodicarboxylates across the inner membranes of mitochondria. Can transport 2-oxoadipate, 2-oxoglutarate, adipate, glutarate, and to a lesser extent, pimelate, 2-oxopimelate, 2-aminoadipate, oxaloacetate, and citrate.

Phenotypes From GWAS Catalog for SLC25A21 Gene

Gene Ontology (GO) - Molecular Function for SLC25A21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005347 ATP transmembrane transporter activity IEA --
GO:0015139 alpha-ketoglutarate transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC25A21: view
genes like me logo Genes that share phenotypes with SLC25A21: view

Human Phenotype Ontology for SLC25A21 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A21 Gene

MGI Knock Outs for SLC25A21:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A21

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC25A21 Gene

Localization for SLC25A21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A21 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A21 gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC25A21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane ISS,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A21: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A21 Gene

Pathways & Interactions for SLC25A21 Gene

genes like me logo Genes that share pathways with SLC25A21: view

Gene Ontology (GO) - Biological Process for SLC25A21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006554 lysine catabolic process TAS --
GO:0055085 transmembrane transport IEA --
GO:1990550 mitochondrial alpha-ketoglutarate transmembrane transport IMP 29517768
genes like me logo Genes that share ontologies with SLC25A21: view

No data available for SIGNOR curated interactions for SLC25A21 Gene

Drugs & Compounds for SLC25A21 Gene

(1) Drugs for SLC25A21 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sodium citrate Approved, Investigational Pharma Transporter, substrate 1606

(1) Additional Compounds for SLC25A21 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC25A21: view

Transcripts for SLC25A21 Gene

mRNA/cDNA for SLC25A21 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A21

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A21 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2:

Relevant External Links for SLC25A21 Gene

GeneLoc Exon Structure for
SLC25A21

Expression for SLC25A21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A21 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A21 Gene

This gene is overexpressed in Testis (x6.1).

Protein differential expression in normal tissues from HIPED for SLC25A21 Gene

This gene is overexpressed in Testis (10.8), Skin (9.9), and Plasma (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A21 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A21

SOURCE GeneReport for Unigene cluster for SLC25A21 Gene:

Hs.730857

mRNA Expression by UniProt/SwissProt for SLC25A21 Gene:

Q9BQT8-ODC_HUMAN
Tissue specificity: Expressed in placenta, gall bladder and colon.

Evidence on tissue expression from TISSUES for SLC25A21 Gene

  • Liver(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with SLC25A21: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A21 Gene

Orthologs for SLC25A21 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A21 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A21 29 30
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC25A21 29 30
  • 92.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC25A21 29 30
  • 89.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc25a21 29
  • 84.45 (n)
Mouse
(Mus musculus)
Mammalia Slc25a21 29 16 30
  • 83.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC25A21 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A21 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC25A21 29 30
  • 80.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC25A21 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc25a21 29
  • 71.79 (n)
Str.17900 29
Zebrafish
(Danio rerio)
Actinopterygii slc25a21 29 30
  • 70.02 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002939 29
  • 61.01 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5254 29 30
  • 59.11 (n)
OneToMany
EG:BACR19J1.2 31
  • 57 (a)
CG9582 30 31
  • 41 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea R11.1 29 30 31
  • 60.19 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ODC2 29 30 32
  • 50.88 (n)
OneToMany
ODC1 30
  • 33 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07073g 29
  • 50.44 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR109W 29
  • 47.57 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC328.09 29
  • 49.75 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04837 29
  • 47.48 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7287 29
Species where no ortholog for SLC25A21 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 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 SLC25A21 Gene

ENSEMBL:
Gene Tree for SLC25A21 (if available)
TreeFam:
Gene Tree for SLC25A21 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A21: view image
Alliance of Genome Resources:
Additional Orthologs for SLC25A21

Paralogs for SLC25A21 Gene

Variants for SLC25A21 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A21 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1012832 Uncertain Significance: not provided 36,734,522(-) TG/T
NM_030631.4(SLC25A21):c.254del (p.Pro85fs)
FRAMESHIFT
884034 Uncertain Significance: Tooth agenesis, selective, 3 36,677,518(-) A/C
NM_001372076.1(PAX9):c.*1066A>C
THREE_PRIME_UTR
rs138906850 Mitochondrial DNA depletion syndrome 18 (MTDPS18) [MIM:618811] p.Lys232Arg
rs1389068504 Pathogenic: Mitochondrial DNA depletion syndrome 18 36,684,834(-) T/C
NM_030631.4(SLC25A21):c.695A>G (p.Lys232Arg)
MISSENSE
rs17104971 Benign: Tooth agenesis, selective, 3 36,677,353(-) C/T
NM_006194.3(PAX9):c.*901C>T
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC25A21 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC25A21 Gene

Variant ID Type Subtype PubMed ID
dgv1870n100 CNV loss 25217958
dgv1871n100 CNV gain 25217958
esv2669967 CNV deletion 23128226
esv2670122 CNV deletion 23128226
esv2748604 CNV deletion 23290073
esv2748605 CNV deletion 23290073
esv2748606 CNV deletion 23290073
esv275403 CNV loss 21479260
esv28302 CNV loss 19812545
esv3302679 CNV tandem duplication 20981092
esv3343084 CNV duplication 20981092
esv3551386 CNV deletion 23714750
esv3581120 CNV loss 25503493
esv3581121 CNV loss 25503493
esv3584271 CNV gain 25503493
esv3634077 CNV loss 21293372
esv3634079 CNV loss 21293372
esv3634080 CNV loss 21293372
esv3634082 CNV loss 21293372
esv3634083 CNV loss 21293372
esv3634084 CNV loss 21293372
nsv1116740 CNV tandem duplication 24896259
nsv1152919 CNV insertion 26484159
nsv1153559 CNV deletion 26484159
nsv1244 CNV insertion 18451855
nsv473147 CNV novel sequence insertion 20440878
nsv478224 CNV novel sequence insertion 20440878
nsv478449 CNV novel sequence insertion 20440878
nsv507743 OTHER sequence alteration 20534489
nsv507744 OTHER sequence alteration 20534489
nsv511032 OTHER complex 20534489
nsv523551 CNV loss 19592680
nsv526786 CNV loss 19592680
nsv564347 CNV loss 21841781
nsv564348 CNV loss 21841781

Variation tolerance for SLC25A21 Gene

Residual Variation Intolerance Score: 74.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A21 Gene

Human Gene Mutation Database (HGMD)
SLC25A21
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A21
Leiden Open Variation Database (LOVD)
SLC25A21

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A21 Gene

Disorders for SLC25A21 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SLC25A21 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ODC_HUMAN
  • Mitochondrial DNA depletion syndrome 18 (MTDPS18) [MIM:618811]: An autosomal recessive mitochondrial disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, loss of ambulation, and atrophy of the intrinsic hand muscles with clawed hands. Additional features include scoliosis, hypo- or hyperreflexia, and decreased pulmonary vital capacity. Examination of skeletal muscle shows mitochondrial respiratory chain deficiencies involving complexes I and IV, associated with mtDNA depletion. {ECO:0000269 PubMed:29517768}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for SLC25A21

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC25A21: view

No data available for Genatlas for SLC25A21 Gene

Publications for SLC25A21 Gene

  1. Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location. (PMID: 11083877) Fiermonte G … Walker JE (The Journal of biological chemistry 2001) 2 3 4 22
  2. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. (PMID: 29517768) Boczonadi V … Horvath R (Genetics in medicine : official journal of the American College of Medical Genetics 2018) 3 4 72
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40

Products for SLC25A21 Gene

Sources for SLC25A21 Gene