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Aliases & Descriptions for SLC25A12
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| AGC1 2 | | ARALAR 2, 5 | | ARALAR1 3 | | Aralar 1 |
| | | Descriptions |
|---|
| Mitochondrial aspartate glutamate carrier 1 2, 3 | | Solute carrier family 25 member 12 3 | | araceli hiperlarga 2 | calcium binding mitochondrial carrier superfamily member Aralar1 2 | solute carrier family 25 (mitochondrial carrier, Aralar), member 12 2 | | solute carrier family 25, member 12 2 |
|
| | Search outside databases for aliases for SLC25A12 genePrevious GC identifers: GC02M170692 GC02M171182 GC02M172604 GC02M172843 GC02M172466 |
Summaries for SLC25A12(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for SLC25A12: This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in the gene encoding this protein may be associated with risk of autism. [provided by RefSeq] UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746Function: Calcium-dependent mitochondrial aspartate and glutamate carrier. May have a function in the urea cycleGene Wiki entry for SLC25A12 |
Genomic Location for SLC25A12
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the SLC25A12 gene 
Entrez Gene cytogenetic band: 2q24 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q24SLC25A12 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M172349:
(about GC identifiers)
Start:
|
172,349,126 bp from pter |
End:
|
172,459,000 bp from pter |
Size:
|
109,875 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000002.10 NT_005403.16
| Proteins for SLC25A12
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746 (See
protein sequence)Recommended Name: Calcium-binding mitochondrial carrier protein Aralar1 Size: 678 amino acids; 74762 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Miscellaneous: Binds calcium
Secondary accessions: Q96AM8REFSEQ proteins: NP_003696.2
ENSEMBL proteins: ENSP00000263812 ENSP00000376371
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for SLC25A12: Assays for SLC25A12: | Protein
Domains/ Families for SLC25A12(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry O75746
ProtoNet protein and cluster: O75746 UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746Similarity: Belongs to the mitochondrial carrier familySimilarity: Contains 4 EF-hand domainsSimilarity: Contains 3 Solcar repeats | Gene Function for SLC25A12
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003705
Applied Biosystems Silencer® siRNAs for SLC25A12
Sigma-Aldrich siRNA and siRNA Panels for SLC25A12  Sigma-Aldrich shRNA for SLC25A12  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_003705                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003705                                  untagged cDNA clone in CMV expression vector: NM_003705 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003705
UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746Function: Calcium-dependent mitochondrial aspartate and glutamate carrier. May have a function in the urea cycle4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Slc25a12):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for SLC25A12
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/9 Interacting proteins for SLC25A12 (ENSP000002638123 O757461) via UniProtKB, MINT, and/or STRING (see all 9
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for SLC25A12(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for SLC25A12 1 Novoseek chemical compound relationship for SLC25A12 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| calcium |
6.48 |
2 |
15254020 (1), 10642534 (1) |
About this table
|
Transcripts for SLC25A12(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003705
Sigma-Aldrich siRNA and siRNA Panels for SLC25A12  Sigma-Aldrich shRNA for SLC25A12  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_003705 REFSEQ mRNAs for SLC25A12 gene: NM_003705.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_003705               OriGene GFP tagged cDNA clone in CMV expression vector: NM_003705                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003705                                  untagged cDNA clone in CMV expression vector: NM_003705  Additional cDNA sequence: AJ496568.1 AK022828.1 AK054941.1 AK091071.1 AK294638.1 BC016932.1 Y14494.1 13 DOTS entries: DT.416086 DT.425367 DT.95274275 DT.40106563 DT.100677634 DT.100700657 DT.91656694 DT.95274274 DT.120943153 DT.91937744 DT.91944731 DT.99956002 DT.91920012 24/188 AceView cDNA sequences (see all 188
):BM709724 BM845414 AA477641 AA780412 AA324131 AA610014 AI887457 BM854164 AI245967 BQ001023 CK904577 BQ888240 BE218551 AI569618 BM761989 CB155371 BM844833 AW337372 BM142257 BU193279 Z43182 Z41030 BQ925545 BM054890
highest scoring ESTs for SLC25A12:AJ496568 AK022828 AK091071 AL597747 AL707680 AU130794 BC016932 BG715365 BI552191 BQ072787 Unigene Cluster for SLC25A12: Solute carrier family 25 (mitochondrial carrier, Aralar), member 12 Hs.470608 [show with all ESTs]Unigene Representative Sequence: NM_003705
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A12
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for SLC25A12
2 Ensembl transcripts including schematic representations: ENST00000263812
ENST00000392592
|
Expression for SLC25A12
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| SLC25A12 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SLC25A12
1 / 2 / 3 6 probe-sets matching SLC25A12 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CCAGTGGATG
SOURCE GeneReport for Unigene cluster: Hs.470608
Expression variation in blood from EXPOLDB for SLC25A12 UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746Tissue specificity: High levels in heart and skeletal muscle, low in brain and very low in kidney |
Orthologs for SLC25A12
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SLC25A12 gene from 5/12 species (see all 12
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
SLC25A121 |
-- |
solute carrier family 25 (mitochondrial carrier, Aralar), more |
93.71(n) 97.35(a) |
478798 XM_855334.1 XP_860427.1 |
chimpanzee (Pan troglodytes) |
SLC25A121 |
-- |
solute carrier family 25 (mitochondrial carrier, Aralar), more |
99.71(n) 99.85(a) |
459736 XM_515903.2 XP_515903.2 |
cow (Bos taurus) |
SLC25A121 |
-- |
solute carrier family 25 (mitochondrial carrier, Aralar), more |
93.75(n) 97.32(a) |
539494 XM_877687.2 XP_882780.2 |
mouse (Mus musculus) |
Slc25a121, 5 |
25
|
solute carrier family 25 (mitochondrial carrier, Aralar), more1, 5 |
88.07(n)1 96.89(a)1 |
788301 NM_172436.31 NP_766024.11 AI8395315 AK0191505 (see all 30) |
chicken (Gallus gallus) |
SLC25A121 |
-- |
solute carrier family 25 (mitochondrial carrier, Aralar), more |
80.86(n) 88.11(a) |
431387 XM_428938.2 XP_428938.2 |
About this table Species with no ortholog for SLC25A12
ENSEMBL Gene Tree for SLC25A12 | Paralogs for SLC25A12(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for SLC25A12 gene
- SLC25A132 SLC25A182 SLC25A222
|
SNPs/Variants for SLC25A12(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for SLC25A12 (up to first 250kb)
|
Disorders & Mutations for SLC25A12
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 603667
Genetic Association Database: SLC25A12 Human Genome Epidemiology Navigator: SLC25A12 (10 documents)
|
Medical News for SLC25A12(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SLC25A12 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/30 PubMed articles for SLC25A12 gene (see all 30
):- Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. (PubMed id 11566871)1, 2, 3, 4 Palmieri L....Palmieri F. (2001)
- Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain. (PubMed id 9722566)2, 3, 4 Del Arco A. and Satrustegui J. (1998)
- Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. (PubMed id 10702666)1, 2, 3 Crackower M.A....Scherer S.W. (1999)
- SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. (PubMed id 16205742)3, 6 Blasi F....Maestrini E. (2006)
- Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (PubMed id 15056512)3, 6 Ramoz N....Buxbaum J.D. (2004)
- The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. (PubMed id 10369257)3, 4 Kobayashi K.... Saheki T. (1999)
- Association study of polymorphisms in the mitochondrial aspartate/glutamate carrier SLC25A12 (aralar) gene with schizophrenia. (PubMed id 17693006)1, 3 Hong C.J....Tsai S.J. (2007)
- Assignment of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization. (PubMed id 10965105)1, 3 Sanz R....Satrustegui J. (2000)
- Requirement for aralar and its Ca2+-binding sites in Ca2+ signal transduction in mitochondria from INS-1 clonal beta-cells. (PubMed id 18996845)3 MA!rmol P....SatrA_stegui J. (2009)
- A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)3 de Krom M....van Ree J.M. (2009)
|
Search for SLC25A12
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SLC25A12
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SLC25A12
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC25A12(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for SLC25A12(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for SLC25A12:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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