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This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membran... See more...
Aliases for SLC25A13 Gene
Aliases for SLC25A13 Gene
External Ids for SLC25A13 Gene
- HGNC: 10983
- Entrez Gene: 10165
- Ensembl: ENSG00000004864
- OMIM: 603859
- UniProtKB: Q9UJS0
Previous HGNC Symbols for SLC25A13 Gene
- CTLN2
Previous GeneCards Identifiers for SLC25A13 Gene
- GC07M094284
- GC07M095347
- GC07M095361
- GC07M095394
- GC07M095587
- GC07M095749
- GC07M090357
Summaries for SLC25A13 Gene
-
This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
GeneCards Summary for SLC25A13 Gene
SLC25A13 (Solute Carrier Family 25 Member 13) is a Protein Coding gene. Diseases associated with SLC25A13 include Citrullinemia, Type Ii, Neonatal-Onset and Citrullinemia, Type Ii, Adult-Onset. Among its related pathways are Glucose metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC25A12.
UniProtKB/Swiss-Prot Summary for SLC25A13 Gene
-
Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871).
Additional gene information for SLC25A13 Gene
- HGNC(10983)
- Entrez Gene(10165)
- Ensembl(ENSG00000004864)
- OMIM(603859)
- UniProtKB(Q9UJS0)
- Open Targets Platform(ENSG00000004864)
- Monarch Initiative
- Search for SLC25A13 at DataMed
- Search for SLC25A13 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A13 Gene
Genomics for SLC25A13 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLC25A13 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 SLC25A13 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A13
- Top Transcription factor binding sites by QIAGEN in the SLC25A13 gene promoter:
-
- AhR
- Arnt
- FOXO4
- NF-AT
- NF-AT1
- NF-AT2
- NF-AT4
- Pax-5
- POU2F1
- POU2F1a
Genomic Locations for SLC25A13 Gene
Genomic Locations for SLC25A13 Gene
- chr7:96,120,220-96,322,147
- (GRCh38/hg38)
- Size:
- 201,928 bases
- Orientation:
- Minus strand
- chr7:95,749,532-95,951,459
- (GRCh37/hg19)
- Size:
- 201,928 bases
- Orientation:
- Minus strand
Genomic View for SLC25A13 Gene
Genes around SLC25A13 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q21.3 by HGNC
- 7q21.3 by Entrez Gene
- 7q21.3 by Ensembl
SLC25A13 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 SLC25A13 Gene
Proteins for SLC25A13 Gene
-
Protein details for SLC25A13 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UJS0-CMC2_HUMAN
- Recommended name:
- Calcium-binding mitochondrial carrier protein Aralar2
- Protein Accession:
- Q9UJS0
- O14566
- O14575
- Q546F9
- Q9NZW1
- Q9UNI7
Protein attributes for SLC25A13 Gene
- Size:
- 675 amino acids
- Molecular mass:
- 74176 Da
- Quaternary structure:
-
- Homodimer (via N-terminus).
- SequenceCaution:
-
- Sequence=AAB67049.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAB70112.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
- Miscellaneous:
-
- Binds to one calcium ion with high affinity.
Protein Expression for SLC25A13 Gene
Post-translational modifications for SLC25A13 Gene
Other Protein References for SLC25A13 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ SLC25A13 Antibody
- Novus Biologicals Antibodies for SLC25A13
-
Abcam antibodies for SLC25A13
- Invitrogen Antibodies for SLC25A13 (AFLGC-Slc25a13)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC25A13
Protein Products
-
OriGene Purified Proteins for SLC25A13
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC25A13
- Origene Custom Protein Services for SLC25A13
-
Signalway Proteins for SLC25A13
-
Abcam proteins for SLC25A13
Assay Products
- antibodies-online: Show 6 available slc25a13 Elisa Kits ranked by validation data
- Compare Top slc25a13 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SLC25A13 Gene
Domains & Families for SLC25A13 Gene
Gene Families for SLC25A13 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Transporters
Protein Domains for SLC25A13 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC25A13 Gene
- GenScript: Design optimal peptide antigens:
-
- Solute carrier family 25 member 13 (CMC2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UJS0UniProtKB/Swiss-Prot:
CMC2_HUMAN :- Upon calcium binding, the EF-hand-containing regulatory N-terminal domain binds to the C-terminal domain, opening a vestibule which allows the substrates to be translocated through the carrier domain (PubMed:25410934). In the absence of calcium, the helix loop domain may close the vestibule, which may prevent substrates from entering the carrier domain (By similarity).
- Belongs to the mitochondrial carrier (TC 2.A.29) family.
- Domain:
-
- Upon calcium binding, the EF-hand-containing regulatory N-terminal domain binds to the C-terminal domain, opening a vestibule which allows the substrates to be translocated through the carrier domain (PubMed:25410934). In the absence of calcium, the helix loop domain may close the vestibule, which may prevent substrates from entering the carrier domain (By similarity).
- Family:
-
- Belongs to the mitochondrial carrier (TC 2.A.29) family.
Function for SLC25A13 Gene
Molecular function for SLC25A13 Gene
- UniProtKB/Swiss-Prot Function:
- Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871).
- GENATLAS Biochemistry:
- solute carrier family 25,mitochondrial,predominantly expressed in liver
Phenotypes From GWAS Catalog for SLC25A13 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005313 | L-glutamate transmembrane transporter activity | IEA,IDA | 11566871 |
| GO:0005347 | ATP transmembrane transporter activity | IEA | -- |
| GO:0005509 | calcium ion binding | IDA | 10642534 |
| GO:0015183 | L-aspartate transmembrane transporter activity | IBA,IDA | 11566871 |
| GO:0022857 | transmembrane transporter activity | IEA | -- |
Phenotypes for SLC25A13 Gene
- MGI mutant phenotypes for SLC25A13:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SLC25A13:
Animal Models for SLC25A13 Gene
- MGI Knock Outs for SLC25A13:
-
- Slc25a13 Slc25a13<tm1Lct>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC25A13 - Select products 50% OFF >
- * SLC25A13 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC25A13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC25A13
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A13
miRNA for SLC25A13 Gene
- miRTarBase miRNAs that target SLC25A13
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC25A13
- Browse OriGene Inhibitory RNA Products For SLC25A13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A13
Clone Products
- Applied Biological Materials (abm): Clones for SLC25A13 - Select products 50% OFF >
- * SLC25A13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206421
- MG224237
- MG225065
- MR206421
- MR206421L3
- MR206421L4
- MR224237
- MR224237L3
- MR224237L4
- MR225065
- MR225065L3
- MR225065L4
- RC201038
- RC201038L1
- RC201038L2
- RC201038L3
- RC201038L4
- RC228995
- RC228995L3
- RC228995L4
- RG201038
- RG228995
- MR206421L3V
- MR206421L4V
- MR224237L3V
- MR224237L4V
- MR225065L3V
- MR225065L4V
- RC201038L1V
- RC201038L2V
- RC201038L3V
- RC201038L4V
- RC228995L3V
- RC228995L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC25A13
- Addgene plasmids for SLC25A13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC25A13
Cell Line Products
-
Horizon Cell Lines for SLC25A13
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC25A13 Gene
Localization for SLC25A13 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC25A13 Gene
- Mitochondrion inner membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 5 |
| cytosol | 3 |
| peroxisome | 2 |
| nucleus | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA,IDA | 10642534 |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | NAS | 10642534 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for SLC25A13 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose metabolism |
.46
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Glycosaminoglycan metabolism | ||
| 4 | Metabolism of proteins | ||
| 5 | Mitochondrial protein import | ||
Pathways by source for SLC25A13 Gene
6 Reactome pathways for SLC25A13 Gene
Interacting Proteins for SLC25A13 Gene
Selected Interacting proteins:
Q9UJS0-CMC2_HUMAN
ENSP00000400101
for SLC25A13 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for SLC25A13
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006094 | gluconeogenesis | TAS | -- |
| GO:0006754 | ATP biosynthetic process | IDA | 12851387 |
| GO:0006839 | mitochondrial transport | NAS | 10642534 |
| GO:0015810 | aspartate transmembrane transport | IEA,IDA | 11566871 |
| GO:0015813 | L-glutamate transmembrane transport | IBA,IDA | 11566871 |
No data available for SIGNOR curated interactions for SLC25A13 Gene
Transcripts for SLC25A13 Gene
mRNA/cDNA for SLC25A13 Gene
- 2 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000265631 3141 nts (view in UCSC)
- ENST00000416240 3192 nts (view in UCSC)
- ENST00000472162 568 nts (view in UCSC)
- ENST00000484495 540 nts (view in UCSC)
- ENST00000487710 201 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC25A13 - Select products 50% OFF >
- * SLC25A13 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC25A13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC25A13
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A13
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC25A13
- Browse OriGene Inhibitory RNA Products For SLC25A13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A13
Clone Products
- Applied Biological Materials (abm): Clones for SLC25A13 - Select products 50% OFF >
- * SLC25A13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206421
- MG224237
- MG225065
- MR206421
- MR206421L3
- MR206421L4
- MR224237
- MR224237L3
- MR224237L4
- MR225065
- MR225065L3
- MR225065L4
- RC201038
- RC201038L1
- RC201038L2
- RC201038L3
- RC201038L4
- RC228995
- RC228995L3
- RC228995L4
- RG201038
- RG228995
- MR206421L3V
- MR206421L4V
- MR224237L3V
- MR224237L4V
- MR225065L3V
- MR225065L4V
- RC201038L1V
- RC201038L2V
- RC201038L3V
- RC201038L4V
- RC228995L3V
- RC228995L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC25A13
- Addgene plasmids for SLC25A13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC25A13
Relevant External Links for SLC25A13 Gene
- GeneLoc Exon Structure for
- SLC25A13
Expression for SLC25A13 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Hippocampus
- Cerebellum
- Cerebral Cortex
- Lateral Ventricle
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Ureteric Bud
- Metanephros
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Intestine (Gastrointestinal Tract)
- Blood (Hematopoietic System)
-
Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for SLC25A13 Gene
This gene is overexpressed in Liver (x7.3).
This gene is overexpressed in Liver (10.7), Nasal epithelium (10.2), and Breast (7.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A13 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A13
SOURCE GeneReport for Unigene cluster for SLC25A13 Gene:
Hs.489190mRNA Expression by UniProt/SwissProt for SLC25A13 Gene:
Q9UJS0-CMC2_HUMAN
Tissue specificity:
High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.
Evidence on tissue expression from TISSUES for SLC25A13 Gene
- Liver(4.6)
- Nervous system(3.5)
- Heart(2.6)
- Eye(2.5)
- Blood(2.4)
- Kidney(2.4)
- Skin(2.2)
- Intestine(2.2)
- Pancreas(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A13 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- urinary
Regions:
Head and neck:
- brain
- ear
- eye
- head
- mouth
- salivary gland
Thorax:
- breast
- diaphragm
- esophagus
- heart
- lung
Abdomen:
- abdominal wall
- biliary tract
- duodenum
- gallbladder
- intestine
- kidney
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- testicle
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- coagulation system
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for SLC25A13
-
OriGene qPCR primer pairs and template standards for SLC25A13
Gene Expression Assay Products
Orthologs for SLC25A13 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC25A13 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC25A13 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC25A13 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc25a13 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC25A13 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC25A13 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC25A13 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC25A13 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc25a13 30 |
|
||
| Str.2860 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC69168 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc25a13 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.273 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | aralar1 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | K02F3.2 31 32 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AGC1 31 33 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for SLC25A13 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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 SLC25A13 Gene
- ENSEMBL:
- Gene Tree for SLC25A13 (if available)
- TreeFam:
- Gene Tree for SLC25A13 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC25A13: view image
Paralogs for SLC25A13 Gene
Paralogs for SLC25A13 Gene
- SLC25A12 5
- SLC25A25 5
- SLC25A24 5
- SLC25A23 5
- UCP3 5
- SLC25A4 5
- SLC25A22 5
- UCP2 5
- SLC25A6 5
- SLC25A14 5
- SLC25A5 5
- SLC25A1 5
- SLC25A30 5
- SLC25A31 5
- SLC25A18 5
- UCP1 5
- SLC25A28 5
- SLC25A21 5
- SLC25A39 5
- SLC25A36 5
- SLC25A45 5
- SLC25A34 5
- SLC25A40 5
- SLC25A20 5
- SLC25A15 5
- SLC25A19 5
- SLC25A16 5
- SLC25A42 5
- SLC25A41 5
- SLC25A2 5
- SLC25A52 5
- ENSG00000262660 5
- SLC25A35 5
- SLC25A38 5
- SLC25A37 5
- SLC25A51 5
- SLC25A29 5
- SLC25A11 5
- SLC25A47 5
- SLC25A48 5
- SLC25A27 5
- SLC25A32 5
- SLC25A26 5
- SLC25A33 5
- SLC25A44 5
- SLC25A43 5
- SLC25A17 5
- ENSG00000285982 5
- SLC25A10 5
- SLC25A3 5
- SLC25A53 5
(9) SIMAP similar genes for SLC25A13 Gene using alignment to 5 proteins:
- CMC2_HUMAN
- F5GX33_HUMAN
- Q75KX8_HUMAN
- Q75M55_HUMAN
- R4GN64_HUMAN
Pseudogenes.org Pseudogenes for SLC25A13 Gene
Variants for SLC25A13 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A13 Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638891 | Pathogenic: Citrin deficiency | 96,146,632(-) | GC/G | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 643067 | Pathogenic: Citrin deficiency | 96,184,963(-) | ACT/A | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 664251 | Uncertain Significance: Citrin deficiency | 96,189,581(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 664925 | Pathogenic: Citrin deficiency | 96,121,734(-) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
| 668498 | Likely Benign: not provided | 96,121,644(-) | A/G | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1678533 | CNV | insertion | 17803354 |
| esv1986427 | CNV | deletion | 18987734 |
| esv2663788 | CNV | deletion | 23128226 |
| esv2734851 | CNV | deletion | 23290073 |
| esv3614208 | CNV | loss | 21293372 |
| nsv477757 | CNV | novel sequence insertion | 20440878 |
| nsv510101 | OTHER | sequence alteration | 20534489 |
| nsv970907 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
7.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.00;
36.91% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC25A13 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A13 Gene
Disorders for SLC25A13 Gene
(28) MalaCards diseases for SLC25A13 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| citrullinemia, type ii, neonatal-onset |
|
|
| citrullinemia, type ii, adult-onset |
|
|
| citrullinemia, classic |
|
|
| cholestasis |
|
|
| brain edema |
|
Search SLC25A13 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CMC2_HUMAN- Citrullinemia 2 (CTLN2) [MIM:603471]: A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. {ECO:0000269 PubMed:10369257, ECO:0000269 PubMed:10610724}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) [MIM:605814]: A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. {ECO:0000269 PubMed:11793471}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLC25A13
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SLC25A13 Gene
Publications for SLC25A13 Gene
- Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. (PMID: 11793471) Yamaguchi N … Saheki T (Human mutation 2002) 3 4 23 41
- The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. (PMID: 10369257) Kobayashi K … Saheki T (Nature genetics 1999) 2 3 4 23
- Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis. (PMID: 20458766) Fu HY … Wang JS (World journal of gastroenterology 2010) 3 23 41
- [Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. (PMID: 20376801) Xing YZ … Gu XF (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010) 3 23 41
- Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. (PMID: 16059747) Lu YB … Saheki T (Journal of human genetics 2005) 3 23 41
ExternalLinks
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