SLC25A13 Gene (Protein Coding)

Solute Carrier Family 25 Member 13

GC07M096120
GIFtS:
47
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

  • Solute Carrier Family 25 Member 13 2 3 4 5
  • Mitochondrial Aspartate Glutamate Carrier 2 2 3 4
  • ARALAR2 2 3 4
  • Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 13 2 3
  • Calcium-Binding Mitochondrial Carrier Protein Aralar2 3 4
  • CITRIN 2 3
  • Solute Carrier Family 25, Member 13 (Citrin) 2
  • SLC25A13 5
  • Citrin 4
  • CTLN2 3
  • NICCD 3

External Ids for SLC25A13 Gene

Previous HGNC Symbols for SLC25A13 Gene

  • CTLN2

Previous GeneCards Identifiers for SLC25A13 Gene

  • GC07M094284
  • GC07M095347
  • GC07M095361
  • GC07M095394
  • GC07M095587
  • GC07M095749
  • GC07M090357

Summaries for SLC25A13 Gene

Entrez Gene Summary 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 of proteins. 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

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

Download GeneHancer 2017 data
Promoters and enhancers for SLC25A13 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
GH07J096319 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 258.4 +0.7 724 3 ZSCAN16 TBP ZBTB10 BCL11A MXD4 NR2C1 MNT IKZF1 SMAD5 HES1 SLC25A13 HSALNG0059714-001 HSALNG0059714-002 lnc-SEM1-4 DYNC1I1
GH07J096322 Enhancer 0.3 ENCODE 250.7 -0.8 -824 0 ZKSCAN1 HSALNG0059714-001 HSALNG0059714-002 SLC25A13 RF00026-1024 RNU6-532P SEM1
GH07J096235 Enhancer 1.2 Ensembl ENCODE 19.9 +85.0 85046 3.8 ZBTB10 MNT IKZF1 SMAD5 IRF2 HES1 MBD2 BHLHE40 NONO ZIC2 SLC25A13 RNU6-532P lnc-DYNC1I1-6 MIR591 DYNC1I1
GH07J096284 Enhancer 1 FANTOM5 Ensembl ENCODE 20.4 +36.5 36546 5.6 MAFF ZNF316 SPI1 BATF ATF2 JUNB MAFK CREB1 ATF7 CREM SLC25A13 MIR591 RPL21P74 lnc-DYNC1I1-7 ENSG00000275834 DYNC1I1
GH07J096245 Enhancer 1 VISTA Ensembl 18.9 +75.0 74979 3.3 CEBPA HOMEZ KDM6A FOXA2 RXRA ZBTB33 RBM22 JUND FOXP1 HNF4A SLC25A13 MIR591 lnc-DYNC1I1-6 RPL21P74 DYNC1I1
- 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

Latest Assembly
chr7:96,120,220-96,322,147
(GRCh38/hg38)
Size:
201,928 bases
Orientation:
Minus strand

Previous Assembly
chr7:95,749,532-95,951,410
(GRCh37/hg19 by Entrez Gene)
Size:
201,879 bases
Orientation:
Minus strand

chr7:95,749,532-95,951,459
(GRCh37/hg19 by Ensembl)
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:
SLC25A13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A13 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC25A13 Gene

Proteins for SLC25A13 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for SLC25A13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJS0-CMC2_HUMAN
    Recommended name:
    Calcium-binding mitochondrial carrier protein Aralar2
    Protein Accession:
    Q9UJS0
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for SLC25A13 Gene

    Alternative splice isoforms for SLC25A13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A13 Gene

Protein Expression for SLC25A13 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC25A13 Gene

  • Ubiquitination at Lys353 and Lys484
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A13 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Q9UJS0

UniProtKB/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.
genes like me logo Genes that share domains with SLC25A13: view

Function for SLC25A13 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function 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:0015171 amino acid transmembrane transporter activity IEA --
GO:0015183 L-aspartate transmembrane transporter activity IBA,IDA 11566871
genes like me logo Genes that share ontologies with SLC25A13: view
genes like me logo Genes that share phenotypes with SLC25A13: view

Human Phenotype Ontology for SLC25A13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A13 Gene

MGI Knock Outs for SLC25A13:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A13

Clone products for research

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.

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 SLC25A13 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
cytosol 3
peroxisome 2
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC25A13 Gene

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 --
genes like me logo Genes that share ontologies with SLC25A13: view

Pathways & Interactions for SLC25A13 Gene

genes like me logo Genes that share pathways with SLC25A13: view

Pathways by source for SLC25A13 Gene

Gene Ontology (GO) - Biological Process for SLC25A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IEA --
GO:0006094 gluconeogenesis TAS --
GO:0006754 ATP biosynthetic process IDA 12851387
GO:0006810 transport IBA 21873635
GO:0006839 mitochondrial transport NAS 10642534
genes like me logo Genes that share ontologies with SLC25A13: view

No data available for SIGNOR curated interactions for SLC25A13 Gene

Drugs & Compounds for SLC25A13 Gene

Products:

  1. Drug products for research

(9) Drugs for SLC25A13 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspartic acid Approved Nutra Target 193
Calcium Nutra 6876

(5) Additional Compounds for SLC25A13 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC25A13: view

Transcripts for SLC25A13 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A13

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A13 Gene

No ASD Table

Relevant External Links for SLC25A13 Gene

GeneLoc Exon Structure for
SLC25A13

Expression for SLC25A13 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A13 Gene

mRNA expression in normal human tissues for SLC25A13 Gene
mRNA expression by GTEx for SLC25A13 GenemRNA expression by BioGPS for SLC25A13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A13 Gene

This gene is overexpressed in Liver (x7.3).

Protein differential expression in normal tissues from HIPED for SLC25A13 Gene

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



Protein tissue co-expression partners for SLC25A13 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A13

SOURCE GeneReport for Unigene cluster for SLC25A13 Gene:

Hs.489190

mRNA 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(3.4)
  • Heart(2.5)
  • Eye(2.4)
  • Kidney(2.3)
  • Blood(2.2)
  • Skin(2.1)
  • Intestine(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
genes like me logo Genes that share expression patterns with SLC25A13: view

Primer products for research

Orthologs for SLC25A13 Gene

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

Orthologs for SLC25A13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SLC25A13 30 31
  • 99.85 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC25A13 30 31
  • 93.48 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SLC25A13 30 31
  • 92.01 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Slc25a13 30 17 31
  • 89 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SLC25A13 31
  • 71 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SLC25A13 31
  • 51 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SLC25A13 30 31
  • 82.73 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SLC25A13 31
  • 89 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia slc25a13 30
  • 78.07 (n)
Str.2860 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC69168 30
Zebrafish
(Danio rerio)
 Actinopterygii slc25a13 31
  • 78 (a)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.273 30
Fruit Fly
(Drosophila melanogaster)
 Insecta aralar1 31 32
  • 55 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea K02F3.2 31 32
  • 51 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AGC1 31 33
  • 27 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 37 (a)
 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

(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

genes like me logo Genes that share paralogs with SLC25A13: view

Variants for SLC25A13 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

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
838520 Pathogenic: Citrin deficiency 96,193,080(-) CG/C
NM_014251.3(SLC25A13):c.571del (p.Arg191fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
839429 Likely Pathogenic: Citrin deficiency 96,234,801(-) C/A
NM_014251.3(SLC25A13):c.328+1G>T 		SPLICE_DONOR
848229 Uncertain Significance: Citrin deficiency 96,121,929(-) C/T
NM_014251.3(SLC25A13):c.1660G>A (p.Ala554Thr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
849656 Uncertain Significance: Citrin deficiency 96,277,273(-) C/G
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
850244 Likely Pathogenic: Citrin deficiency 96,131,882(-) C/T
NM_014251.3(SLC25A13):c.1453-1G>A 		SPLICE_ACCEPTOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC25A13 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 SLC25A13 Gene

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

Variation tolerance for SLC25A13 Gene

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

Human Gene Mutation Database (HGMD)
SLC25A13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A13

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A13 Gene

Disorders for SLC25A13 Gene

MalaCards: The human disease database

(27) MalaCards diseases for SLC25A13 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
citrullinemia, type ii, neonatal-onset
  • citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia
citrullinemia, type ii, adult-onset
  • ctln2
citrullinemia, classic
  • citrullinemia, type i; ctln1
cholestasis
  • bile occlusion
brain edema
  • intracranial swelling
- elite association - COSMIC cancer census association via MalaCards

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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for SLC25A13

Genetic Association Database
(GAD)
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 SLC25A13: view

No data available for Genatlas for SLC25A13 Gene

Publications for SLC25A13 Gene

  1. 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
  2. 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
  3. [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
  4. 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
  5. 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

View latest publications for SLC25A13 gene in Mastermind

Products for SLC25A13 Gene

Sources for SLC25A13 Gene