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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC25A13 Gene

protein-coding GIFtS: 67
GCID: GC07M095749

solute carrier family 25 (aspartate/glutamate carrier),...

(Previous names: solute carrier family 25, member 13 (citrin) )
(Previous symbol: CTLN2)

Explore 33 diseases affiliated with
SLC25A13 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 13¹ ²		Mitochondrial Aspartate Glutamate Carrier 2² ³
ARALAR2¹ ² ³		Calcium-Binding Mitochondrial Carrier Protein Aralar2²
CTLN2¹ ² ⁵		Citrin³
CITRIN¹ ²		Solute Carrier Family 25 Member 13³
Solute Carrier Family 25, Member 13 (Citrin)¹ ²

External Ids:	HGNC: 10983¹	Entrez Gene: 10165²	Ensembl: ENSG00000004864⁷	OMIM: 603859⁵	UniProtKB: Q9UJS0³

ORGUL members:
	NONCODE:n407953

Export aliases for SLC25A13 gene to outside databases

Previous GC identifers: GC07M094284 GC07M095347 GC07M095361 GC07M095394 GC07M095587 GC07M090357

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC25A13:

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)

UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0

Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the

mitochondrial inner membrane. May have a function in the urea cycle

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC25A13 gene promoter:
AhR Pax-5 NF-AT Arnt NF-AT4 NF-AT2 POU2F1 FOXO4 POU2F1a NF-AT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SLC25A13 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC25A13

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A13

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21.3 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q21.3

SLC25A13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A13 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M095749: view genomic region (about GC identifiers)

Start:	95,749,532 bp from pter	End:	95,951,459 bp from pter
Size:	201,928 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 95,078,578-95,280,528

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0 (See protein sequence)

Recommended Name: Calcium-binding mitochondrial carrier protein Aralar2

Size: 675 amino acids; 74176 Da

Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein

Miscellaneous: Binds calcium

Sequence caution: Sequence=AAB67049.1; Type=Erroneous gene model prediction; Sequence=AAB70112.1; Type=Erroneous gene

model prediction;

Secondary accessions: O14566 O14575 Q546F9 Q9NZW1 Q9UNI7

Alternative splicing: 2 isoforms: Q9UJS0-1 Q9UJS0-2

Explore the universe of human proteins at neXtProt for SLC25A13: NX_Q9UJS0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UJS0

SLC25A13 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001153682.1 NP_055066.1

ENSEMBL proteins:

ENSP00000265631 ENSP00000400101 ENSP00000440484

Reactome Protein details: Q9UJS0
Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SLC25A13

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0005743	mitochondrial inner membrane	TAS	--
GO:0005887	integral to plasma membrane	NAS	10642534
GO:0016021	integral to membrane	--	--

SLC25A13 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC25A13

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC25A13 for domains About GeneDecksing

5 InterPro domains/families:

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_Ca-bd

IPR002067 Mit_carrier

IPR023395 Mt_carrier_dom

IPR018108 Mitochondrial_sb/sol_carrier

Graphical View of Domain Structure for InterPro Entry Q9UJS0

ProtoNet protein and cluster: Q9UJS0

UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0

Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family

Similarity: Contains 4 EF-hand domains

Similarity: Contains 3 Solcar repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0

Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the

mitochondrial inner membrane. May have a function in the urea cycle

Genatlas biochemistry entry for SLC25A13:

solute carrier family 25,mitochondrial,predominantly expressed in liver

miRNA Products:		miRTarBase miRNAs that target SLC25A13: hsa-let-7b (MIRT001594)

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		hsa-miR-200c* hsa-miR-130a* hsa-miR-23c hsa-miR-520a-5p hsa-miR-550a* hsa-miR-525-5p hsa-miR-23b hsa-miR-23a

		SwitchGear 3'UTR luciferase reporter plasmid: SLC25A13 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A13

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	NAS	10642534
GO:0005313	L-glutamate transmembrane transporter activity	IDA	11566871
GO:0005509	calcium ion binding	IDA	10642534
GO:0015183	L-aspartate transmembrane transporter activity	IDA	11566871

SLC25A13 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SLC25A13:

Decreased Wnt reporter activit

Animal Models:
Mouse knock-out Slc25a13^tm1Lct for SLC25A13
6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Slc25a13):

growth/size	homeostasis/metabolism	liver/biliary system	mortality/aging	no phenotypic analysis
renal/urinary system

SLC25A13 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glucose metabolism

Glucose metabolism

1.00

Gluconeogenesis

0.50

Mitochondrial Protein Import

Mitochondrial Protein Import

1.00

Metabolism

Metabolism

1.00

MPS IIIC - Sanfilippo syndrome C

Metabolism of carbohydrates

0.47

Asparagine N-linked glycosylation

Metabolism of proteins

0.15

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 Reactome Pathways for SLC25A13 (see all 6)

	Gluconeogenesis
	Metabolism of carbohydrates
	Metabolism
	Mitochondrial Protein Import
	Glucose metabolism

SLC25A13 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SLC25A13

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/320 Interacting proteins for SLC25A13 (Q9UJS0^{2, 3} ENSP00000265631⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 320)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC25A5	P05141²	MINT-6489217 MINT-8086502 MINT-6488488 MINT-8079030
ICT1	Q14197²^,³, ENSP00000301585⁴	MINT-8079030 I2D: score=1 STRING: ENSP00000301585
SLX1A	Q9BQ83³, ENSP00000251303⁴	I2D: score=2 STRING: ENSP00000251303
SLX1B	Q9BQ83³, ENSP00000328940⁴	I2D: score=2 STRING: ENSP00000328940
HSPA9	P38646²	MINT-6489217 MINT-8086502 MINT-8079030

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006006	glucose metabolic process	TAS	--
GO:0006094	gluconeogenesis	TAS	--
GO:0006754	ATP biosynthetic process	IDA	12851387
GO:0006810	transport	NAS	10642534

SLC25A13 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC25A13 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC25A13

2 HMDB Compounds for SLC25A13 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
L-Aspartic acid	(+)-Aspartate (see all 41)	56-84-8	--

1 DrugBank Compound for SLC25A13 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Aspartic Acid	(+)-Aspartic acid (see all 23)	56-84-8	target	--	17228780 17237342 17213189 17354380 17591776

10/13 Novoseek chemical compound relationships for SLC25A13 gene (see all 13) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
citrulline	87.4	6	16449956 (1), 18578996 (1), 17332192 (1), 18207281 (1) (see all 6)
aspartate	54.2	19	11566871 (3), 15254020 (2), 16199199 (2), 15494407 (1) (see all 8)
urea	53.9	16	12602510 (2), 15050970 (2), 16613706 (1), 16199199 (1) (see all 7)
methionine	52.2	3	18578996 (1), 17332192 (1), 12692712 (1)
nadh	46.6	5	16199199 (2), 12602510 (1), 17591776 (1), 16458993 (1)
galactose	42.6	3	18207281 (1), 19951499 (1), 12692712 (1)
threonine	38.8	1	17332192 (1)
glutamate	36.7	17	11566871 (3), 15254020 (2), 15494407 (1), 17160946 (1) (see all 7)
udpglucose	36.2	3	16736097 (1)
nad+	29.5	2	16458993 (1), 16199199 (1)

Search CenterWatch for drugs/clinical trials and news about SLC25A13 / CMC2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC25A13 gene (2 alternative transcripts):

NM_001160210.1 NM_014251.2

Unigene Cluster for SLC25A13:

Solute carrier family 25 (aspartate/glutamate carrier), member 13

Hs.489190 [show with all ESTs]

Unigene Representative Sequence: NM_001160210

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000265631 ENST00000494085 ENST00000490072 ENST00000484495 ENST00000492869

ENST00000472162 ENST00000487710 ENST00000416240(uc003uog.4 uc003uof.4 uc011kik.2)

ENST00000542654

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		hsa-miR-200c* hsa-miR-130a* hsa-miR-23c hsa-miR-520a-5p hsa-miR-550a* hsa-miR-525-5p hsa-miR-23b hsa-miR-23a

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Additional cDNA sequence:

AB593184.1 AF118838.1 AJ496569.1 AK000766.1 AK025227.1 AK025779.1 AK130552.1 AK222864.1

AK294629.1 BC006566.2 NR_027662.1 Y17571.1

11 DOTS entries:

DT.313984 DT.121105022 DT.99941371 DT.121105196 DT.91767232 DT.421775 DT.65285569 DT.91767228

DT.91767233 DT.97796763 DT.75163794

24/163 AceView cDNA sequences (see all 163):

AK025227 BP351570 BM550716 AI267987 AI357944 BC006566 AA360112 BM835767

CK821307 AI915957 BQ421585 BG492615 AL701886 BU156761 BQ434908 BF002310

AL555051 BE220097 AF118838 BX098532 AI962674 AJ496569 NM_014251 BF512707

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC25A13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATTTGTGAA

About this image

SLC25A13 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Ureteric Bud

Ureteric Bud Cells

Kidney

Kidney

Metanephros

Kidney

Ureteric Bud

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See SLC25A13 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC25A13

SOURCE GeneReport for Unigene cluster: Hs.489190

UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0

Tissue specificity: High levels in liver and low levels in kidney, pancreas, placenta, heart and brain

SABiosciences Expression via Pathway-Focused PCR Arrays including SLC25A13:

Mitochondria in human mouse rat

Drug Transporters in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SLC25A13 gene from 6/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SLC25A13¹	solute carrier family 25, member 13 (citrin)	82.73(n) 92.81(a)		428427 NM_001012949.1 NP_001012967.1
lizard (Anolis carolinensis)	Reptilia	SLC25A13⁶	--	87(a)	1 ↔ 1	6(22835623-22924900)
African clawed frog (Xenopus laevis)	Amphibia	MGC69168²	hypothetical protein MGC69168	78.93(n)		BC041739.1
zebrafish (Danio rerio)	Actinopterygii	slc25a13⁶	solute carrier family 25, member 13	78(a)	1 ↔ 1	19(42253706-42343927)
fruit fly (Drosophila melanogaster)	Insecta	aralar1³	transport carrier	58(a)		--
worm (Caenorhabditis elegans)	Secernentea	K02F3.2³	--	53(a)		III(845852-850264) --

ENSEMBL Gene Tree for SLC25A13 (if available)
TreeFam Gene Tree for SLC25A13 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SLC25A13 gene

SLC25A12² SLC25A18² SLC25A44² SLC25A22²

9 SIMAP similar genes for SLC25A13 using alignment to 4 protein entries: CMC2_HUMAN (see all proteins):

SLC25A12 SLC25A22 SLC25A18 SLC25A20 FLJ00351 LOC283130

SLC25A45 SLC25A21 SLC25A29

SLC25A13 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SLC25A13
PGOHUM00000239723

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80338727^1,2	C	pathogenic	95080053(-)	`CTTACA/G/TAATTG`	8	K E *	nc-transcript-variantmis¹ stg¹		0	--	--	--	--
rs80338722^1,2	C,	pathogenic	95142624(-)	`TAGAGA/GTTAGT`	3	--	spd¹		0	--	--	--	--
rs80338721^1,2	C	pathogenic	95142724(-)	`ACCAAC/TGATCA`	5	R *	nc-transcript-variantstg¹		0	--	--	--	--
rs80338719^1,2	C	pathogenic	95149537(-)	`TAATTA/CGCTCC`	5	* S	nc-transcript-variantstg¹		0	--	--	--	--
rs80338717^1,2	C,	pathogenic	95151378(-)	`TGTAAA/GTTGTA`	3	--	int¹		0	--	--	--	--
rs10549339^1,2	C	--	90394903(+)	`TTGGAAAAC/- AAACA`	3	--	int¹		1		CSA	2
rs58065604^1,2	C,	--	95078138(+)	`TAAATC/TCTGTT`	3	--	ds500¹		2		WA	120
rs56382447^1,2	C,F,	--	95078189(+)	`AAATAA/TTAGCA`	3	--	ds500¹		3		WA CSA	122
rs17848729^1,2	C,	--	95078459(-)	`CTCAGT/CATCTT`	3	--	ds500¹		2		NA	4
rs11762136^1,2	H	--	95080117(+)	`AAATGC/GAGAAA`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SLC25A13 (95749532 - 95951459 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SLC25A13: --
Human Gene Mutation Database (HGMD): SLC25A13

Locus Specific Mutation Databases (LSDB): SLC25A13

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC25A13

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC25A13 for disorders           About GeneDecksing

OMIM gene information: 603859
OMIM disorders: 603471  605814
UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0

Defects in SLC25A13 are the cause of citrullinemia type 2 (CTLN2) [MIM:603471]. Citrullinemia belongs to the

urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine

citrulline levels. Ammonia intoxication is another manifestation. CTLN2 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

Defects in SLC25A13 are the cause of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD)

[MIM:605814]. NICCD is a form of citrullinemia type 2 with neonatal onset. NICCD is characterized by suppression of

the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction.

NICCD 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

20/33 diseases for SLC25A13 (see all 33): About MalaCards

citrullinemia neonatal intrahepatic cholestasis caused by citrin deficiency failure to thrive and dyslipidemia caused by citrin deficiency fatty acid oxidation disorders

urea cycle disorder citrin deficiency neural tube defect nonalcoholic steatohepatitis

intrahepatic cholestasis status epilepticus brain edema cholestasis

galactosemia orofacial cleft autosomal recessive disease metabolic disorders

hepatic encephalopathy fatty liver disease tyrosinemia jaundice

4 diseases from the University of Copenhagen DISEASES database for SLC25A13:

Cholestasis Liver disease Urea cycle disorder Galactosemia

10/22 Novoseek disease relationships for SLC25A13 gene (see all 22) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ctln2	99.1	130	11153906 (5), 12602510 (3), 16449956 (2), 17160946 (2) (see all 39)
citrullinemia	95.3	17	11281457 (1), 12409267 (1), 11211185 (1), 17000460 (1) (see all 13)
cholestasis intrahepatic	92.9	95	12424587 (4), 18578996 (3), 17332192 (3), 16311094 (3) (see all 37)
hepatitis neonatal	84.6	6	16059747 (1), 15050970 (1), 11793471 (1), 14680984 (1)
galactosemias	83.6	5	16613706 (1), 18207281 (1), 19232506 (1), 18291102 (1) (see all 5)
hyperammonemia	81	9	16449956 (1), 16613706 (1), 11211185 (1), 16736097 (1) (see all 7)
hypoproteinemia	76.8	1	16613706 (1)
jaundice cholestatic	74.6	3	12692712 (2), 11343052 (1)
cholestasis	66	7	20200759 (1), 19405932 (1), 19951499 (1), 20479677 (1) (see all 7)
fatty liver	57	12	18620775 (5), 16737877 (3), 19405932 (1), 16199199 (1) (see all 5)

GeneTests: SLC25A13

Citrin Deficiency

Genetic Association Database (GAD): SLC25A13
Human Genome Epidemiology (HuGE) Navigator: SLC25A13 (13 documents)

Export disorders for SLC25A13 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SLC25A13 gene, integrated from 9 sources (see all 132):
(articles sorted by number of sources associating them with SLC25A13)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 11793471)^{1, 2, 4, 9} Yamaguchi N.... Saheki T. (2002)
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. (PubMed id 10369257)^{1, 2, 3, 9} Kobayashi K.... Saheki T. (1999)
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. (PubMed id 11153906)^{1, 4, 9} Yasuda T....Saheki T. (2000)
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. (PubMed id 16059747)^{1, 4, 9} Lu Y.B....Saheki T. (2005)
Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. (PubMed id 11566871)^{1, 2, 9} Palmieri L....Palmieri F. (2001)
Characterization of a second member of the subfamily of calcium- binding mitochondrial carriers expressed in human non-excitable tissues. (PubMed id 10642534)^{1, 2, 9} Del Arco A.... Satrustegui J. (2000)
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. (PubMed id 10610724)^{1, 2, 9} Sinasac D.S.... Tsui L.-C. (1999)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. (PubMed id 17591776)^{7, 9} Saheki T....Kobayashi T. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 10165	HGNC: 10983	AceView: SLC25A13	Ensembl:ENSG00000004864	euGenes: HUgn10165
ECgene: SLC25A13	H-InvDB: SLC25A13

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC25A13	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A13

Intellectual Property for SLC25A13 gene
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Patent Information for SLC25A13 gene:
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GeneCards and IP:
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SLC25A13 Gene

solute carrier family 25 (aspartate/glutamate carrier),...

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HEPATITIS NEONATAL
Fatty Liver
Cirrhosis
Liver Dysfunction
Hypoproteinemia
Hepatic Encephalopathy
Cholestasis Intrahepatic
Jaundice Cholestatic
CTLN2
Hyperlipidemia
Liver diseases
Hepatomegaly
Citrin Deficiency
Hypoglycemia
Brain Edema
HEPATOCELLULAR CARCINOMA
Hyperammonemia
Cholestasis
metabolic disorder
ENCEPHALOPATHY
chronic pancreatitis
Citrullinemia
Galactosemias

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SLC25A13 Gene

solute carrier family 25 (aspartate/glutamate carrier),...

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