SLC22A5 Gene
protein-coding GIFtS: 62
GCID: GC05P131733
|
|
solute carrier family 22 (organic cation/carnitine transporter),...
(Previous symbol: CDSP)
| |
Aliases
for SLC22A5 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Solute Carrier Family 22 (Organic Cation/Carnitine Transporter), Member51 2 | | OCTN2VT2 | | OCTN21 2 3 5 | | High-Affinity Sodium Dependent Carnitine Cotransporter2 | | CDSP1 2 5 | | Solute Carrier Family 22 Member 52 | | Organic Cation/Carnitine Transporter 22 3 | | High-Affinity Sodium-Dependent Carnitine Cotransporter3 | | SCD1 5 | | |
Export aliases for SLC22A5 gene to outside databasesPrevious GC identifers: GC05P131227 GC05P132152 GC05P131661 GC05P131707 GC05P131708 GC05P126897 |
Summaries
for SLC22A5 gene(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 SLC22A5:
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for eliminationof many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encodedprotein is a plasma integral membrane protein which functions both as an organic cation transporter and as asodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake ofcarnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomalrecessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and laterin life by skeletal myopathy or cardiomyopathy. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: S22A5_HUMAN, O76082Function: Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake ofcarnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such astetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is11.3
Gene Wiki entry for SLC22A5
|
Genomic Views
for SLC22A5 gene
(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_000005.9 NC_018916.1 NT_034772.6
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SLC22A5 gene promoter:
E2F-3a E2F-4 E2F-5 AML1a Lmo2 MyoD E2F-2 E2F-1 E2F c-Myb
Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC22A5
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC22A5 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q23.3 Ensembl cytogenetic band: 5q31.1 HGNC cytogenetic band: 5q23.3SLC22A5 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P131733: view genomic region
(about GC identifiers)
Start:
|
131,705,401 bp from pter |
End:
|
131,731,306 bp from pter |
Size:
|
25,906 bases |
Orientation:
|
plus strand |
|
Proteins
for SLC22A5 gene
(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: S22A5_HUMAN, O76082 (See
protein sequence)Recommended Name: Solute carrier family 22 member 5 Size: 557 amino acids; 62752 Da
Subunit: Interacts with PDZK1 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited byvalproic acid
Secondary accessions: A2Q0V1 B2R844 D3DQ87 Q6ZQZ8 Q96EH6Alternative splicing: 3 isoforms: O76082-1 O76082-2 O76082-3 (Retained in the ER, unable to perform carnitine uptake)Explore the universe of human proteins at neXtProt for SLC22A5: NX_O76082
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O76082
SLC22A5 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_003051.1
ENSEMBL proteins: ENSP00000245407 ENSP00000400553 ENSP00000388838 ENSP00000401860 ENSP00000389284 ENSP00000402760 Reactome Protein details: O76082
Human Recombinant Protein Products for SLC22A5:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
SLC22A5 for ontologies About GeneDecksing
SLC22A5 Antibody Products:
Assay Products for SLC22A5: |
Protein
Domains /
Families
for SLC22A5 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC22A5 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O76082ProtoNet protein and cluster: O76082 UniProtKB/Swiss-Prot: S22A5_HUMAN, O76082Similarity: Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family |
Function
for SLC22A5 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: S22A5_HUMAN, O76082Function: Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake ofcarnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such astetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is11.3 Genatlas biochemistry entry for SLC22A5:solute carrier family 22,member A5,63kDa,polyspecific transporter of organic cations,sodium ion dependent,high affinitycarnitine transporter plasmalemmal,strongly expressed in kidney,skeletal muscle,heart,pancreas
Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table
SLC22A5 for ontologies About GeneDecksing
Phenotypes:
7 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Slc22a5):
SLC22A5 for phenotypes About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC22A5 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC22A5 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for SLC22A5 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC22A5 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC22A5 |
|
Pathways & Interactions
for SLC22A5 gene
(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 |
|---|
| 1 | SLC-mediated transmembrane transport | | | 2 | Organic cation/anion/zwitterion transport | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5 
Reactome Pathways for SLC22A5
SLC22A5 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC22A5
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/6 Interacting proteins for SLC22A5 (O760823 ENSP000002454074) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
SLC22A5 for ontologies About GeneDecksing
|
Drugs & Compounds
for SLC22A5 gene(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
|
SLC22A5 for compounds About GeneDecksing
 Browse Tocris compounds for SLC22A5
3 HMDB Compounds for SLC22A5 About this table
10/50 DrugBank Compounds for SLC22A5 (see all 50) About this table
10/15 Novoseek chemical compound relationships for SLC22A5 gene (see all 15) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| carnitine |
92.8 |
236 |
14506273 (7), 12183691 (5), 16931768 (5), 10454528 (4) (see all 77) |
| moxa |
75.9 |
2 |
15028572 (1), 11414662 (1) |
| tetraethylammonium |
62.2 |
4 |
9685390 (1), 12183691 (1), 16931768 (1) |
| cirazoline |
59.4 |
2 |
15028572 (1), 11414662 (1) |
| moxonidine |
49.2 |
2 |
15028572 (1), 11414662 (1) |
| verapamil |
46.6 |
5 |
15486076 (1), 16490820 (1), 20208395 (1), 15028572 (1) (see all 5) |
| valproate |
36.3 |
2 |
12183691 (1) |
| choline |
30.6 |
1 |
17805461 (1) |
| desipramine |
23 |
2 |
15028572 (1), 11414662 (1) |
| putrescine |
22.6 |
1 |
15028572 (1) |
Search CenterWatch for drugs/clinical trials and news about SLC22A5 / S22A5
|
Transcripts
for SLC22A5 gene(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,
Sirion Biotech,
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 SLC22A5 gene: NM_003060.3 Unigene Cluster for SLC22A5: Solute carrier family 22 (organic cation/carnitine transporter), member 5 Hs.443572 [show with all ESTs]Unigene Representative Sequence: AB2094849 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000245407(uc003kww.4 uc003kwx.4) ENST00000437841 ENST00000415928
ENST00000461013 ENST00000448810(uc010jdr.1) ENST00000479605 ENST00000447841
ENST00000475308 ENST00000435065
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC22A5 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC22A5 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SLC22A5 (NM_003060) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC22A5 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC22A5 |
Additional cDNA sequence: AB015050.1 AB209484.1 AB291606.1 AF057164.1 AK128610.1 AK313230.1 AY429569.1 BC012325.1 9 DOTS entries: DT.211513 DT.91996328 DT.95126786 DT.99949350 DT.40197643 DT.422824 DT.100816288 DT.120834228 DT.91957266 24/85 AceView cDNA sequences (see all 85): BM923840 AI784126 BF198058 NM_003060 BX107689 BM725111 AI364189 AW241672 AK128610 AI928500 AI024645 BE732425 BV188395 AI074257 BE501408 BG723644 CB217109 BM693015 BI547770 AI905775 AI244370 AI289728 AY429569 BU742007
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SLC22A5 (see all 6) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
|---|
|
| SP1: | | | | | - | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for SLC22A5
|
Expression
for SLC22A5 gene
(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
| SLC22A5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTTGTGAA
About this image
See SLC22A5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC22A5
SOURCE GeneReport for Unigene cluster: Hs.443572
UniProtKB/Swiss-Prot: S22A5_HUMAN, O76082Tissue specificity: Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinalcell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells butnot in CD20 B-cells
SABiosciences Expression via Pathway-Focused PCR Arrays including SLC22A5:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC22A5
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC22A5 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC22A5 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC22A5 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC22A5 |
Orthologs
for SLC22A5 gene
(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 eukaryotes.
Orthologs for SLC22A5 gene from 9/20 species (see all 20) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Slc22a51 , 5 |
solute carrier family 22 (organic cation transporter), more1, 5 |
86.71(n)1
85.46(a)1 |
|
11 (32.02 cM)5
205201 NM_011396.31 NP_035526.11
538645425 |
chicken
(Gallus gallus) |
Aves |
SLC22A56 |
solute carrier family 22 (organic cation transport... |
76(a) |
1 ↔ 1 |
13(17398703-17422413) |
lizard
(Anolis carolinensis) |
Reptilia |
SLC22A56 |
-- |
74(a) |
1 ↔ 1 |
2(127845384-127882655) |
African clawed frog
(Xenopus laevis) |
Amphibia |
slc22a5-prov2 |
solute carrier family 22 (organic cation transporter), more |
76.6(n) |
|
BC056014.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
zgc660362 |
Slc22a5-prov protein |
73.83(n) |
|
393822 BC062384.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Orct3 |
carnitine transporter |
35(a)
(best of 21) |
|
95F8 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
oct-13 |
transporter |
31(a)
(best of 8) |
|
I(9896504-9899565) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
2-Oct1 |
organic cation/carnitine transporter 2 |
43.27(n)
33.58(a) |
|
844274 NM_106584.2 NP_178054.1 |
rice
(Oryza sativa) |
Liliopsida |
Os01g03305001 |
hypothetical protein |
44.12(n)
31.71(a) |
|
9271394 NM_001185382.1 NP_001172311.1 |
ENSEMBL Gene Tree for SLC22A5 (if available)
TreeFam Gene Tree for SLC22A5 (if available) |
Paralogs
for SLC22A5 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SLC22A5 gene
- SLC22A82 SLC22A12 SLC22A102 SLC22A152 SLC22A72 SLC22A122 SLC22A112 SLC22A42
- SLC22A242 SLC22A22 SLC22A132 SLC22A92 SLC22A62 SLC22A252 SLC22A162 SLC22A32
16 SIMAP similar genes for SLC22A5 using alignment to 5 protein entries: S22A5_HUMAN (see all proteins):SLC22A4 SLC22A15 SLC22A14 SLC22A2 SLC22A3 SLC22A8
SLC22A1 SLC22A16 SLC22A7 SLC22A13 SLC22A11 SLC22A6
SLC22A10 SLC22A20 SLC22A24 SLC22A12
SLC22A5 for paralogs About GeneDecksing
|
Genomic Variants
for SLC22A5 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SLC22A5 (131705401 - 131731306 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SLC22A5: --
Human Gene Mutation Database (HGMD): SLC22A5
Locus Specific Mutation Databases (LSDB): SLC22A5
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC22A5 |
|
Disorders
/ Diseases
for SLC22A5 gene
(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
|
SLC22A5 for disorders About GeneDecksing
OMIM gene information: 603377
OMIM disorders: 212140
UniProtKB/Swiss-Prot: S22A5_HUMAN, O76082
Defects in SLC22A5 are the cause of systemic primary carnitine deficiency (CDSP) [MIM:212140]. CDSP is anautosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in lifewith hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy orcardiomyopathy
20/45  diseases for SLC22A5 (see all 45): About MalaCardscarnitine deficiency sudden infant death syndrome visceral steatosis holocarboxylase synthetase deficiency
hypoglycemia cardiomyopathy myopathy sclerosing cholangitis
primary sclerosing cholangitis non-hodgkin lymphoma inflammatory bowel disease primary biliary cirrhosis
pediatric crohns disease chronic obstructive pulmonary disease placental choriocarcinoma barrett's esophagus
cholangitis reye syndrome hodgkin's lymphoma hypertrophic cardiomyopathy
3 diseases from the University of Copenhagen DISEASES database for SLC22A5:Systemic primary carnitine deficiency disease Crohn's disease Ulcerative colitis 8 Novoseek disease relationships for SLC22A5 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| carnitine deficiency, primary |
97 |
24 |
12204000 (2), 12408185 (2), 20027113 (1), 10559218 (1) (see all 16) |
| visceral steatosis |
87 |
6 |
16734862 (2), 16754783 (1), 12510384 (1), 9837751 (1) |
| cardiomyopathy |
55 |
4 |
12210323 (1), 18337137 (1), 15125318 (1), 15487009 (1) |
| inflammatory bowel diseases |
45 |
3 |
16519742 (1), 20477602 (1) |
| sudden infant death syndrome |
20.6 |
1 |
15487009 (1) |
| rheumatoid arthritis |
15 |
1 |
16796743 (1) |
| psoriasis |
12.7 |
1 |
20031577 (1) |
| genetic susceptibility |
1.25 |
1 |
16333318 (1) |
Genetic Association Database (GAD): SLC22A5
Human Genome Epidemiology (HuGE) Navigator: SLC22A5 (65 documents)
Export disorders for SLC22A5 gene to outside databases
|
Publications
for SLC22A5 gene (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)
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PubMed articles for SLC22A5 gene, integrated from 9 sources (see all 207):
(articles sorted by number of sources associating them with SLC22A5) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. (PubMed id 9618255)1, 2, 3, 7 Wu X.... Ganapathy V. (1998)
- Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. (PubMed id 10454528)1, 2, 7, 9 Wu X.... Ganapathy V. (1999)
- Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. (PubMed id 9685390)1, 2, 3, 9 Tamai I....Tsuji A. (1998)
- Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. (PubMed id 15714519)1, 2, 4, 9 Dobrowolski S.F....Longo N. (2005)
- Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. (PubMed id 9916797)1, 2, 3 Nezu J....Tsuji A. (1999)
- Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). (PubMed id 16931768)1, 2, 9 Urban T.J.... Giacomini K.M. (2006)
- OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2. (PubMed id 17509700)1, 2, 9 Maekawa S.... Miwa S. (2007)
- Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function. (PubMed id 10559218)1, 2, 9 Seth P.... Ganapathy V. (1999)
- Transport of ipratropium, an anti-chronic obstructive pulmonary disease drug, is mediated by organic cation/carnitine transporters i n human bronchial epithelial cells: implications for carrier-mediated pulmonary absorption. (PubMed id 20020740)1, 7, 9 Nakamura T....Tamai I. (2010)
- Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein. (PubMed id 12183691)1, 7, 9 Ohashi R....Tsuji A. (2002)
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External Searches for SLC22A5 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing SLC22A5 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SLC22A5 gene
(According to HUGE)
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Specialized Databases showing SLC22A5 gene(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 SLC22A5 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC22A5 | | The SLC22A5 database | http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php |
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| Patent Information for SLC22A5 gene:
Search GeneIP for patents involving SLC22A5
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SLC22A5 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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