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Aliases for SLC22A6 Gene

Aliases for SLC22A6 Gene

  • Solute Carrier Family 22 Member 6 2 3 5
  • Solute Carrier Family 22 (Organic Anion Transporter), Member 6 2 3
  • Renal Organic Anion Transporter 1 3 4
  • Organic Anion Transporter 1 3 4
  • PAH Transporter 3 4
  • HROAT1 3 4
  • HOAT1 3 4
  • HPAHT 3 4
  • OAT1 3 4
  • PAHT 3 4
  • Para-Aminohippurate Transporter 3
  • ROAT1 3

External Ids for SLC22A6 Gene

Previous GeneCards Identifiers for SLC22A6 Gene

  • GC11M065256
  • GC11M064319
  • GC11M062519
  • GC11M062500
  • GC11M062744
  • GC11M059073

Summaries for SLC22A6 Gene

Entrez Gene Summary for SLC22A6 Gene

  • The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC22A6 Gene

SLC22A6 (Solute Carrier Family 22 Member 6) is a Protein Coding gene. Diseases associated with SLC22A6 include N-Acetylglutamate Synthase Deficiency. Among its related pathways are Uricosurics Pathway, Pharmacodynamics and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include protein homodimerization activity and ion transmembrane transporter activity. An important paralog of this gene is SLC22A8.

UniProtKB/Swiss-Prot for SLC22A6 Gene

  • Involved in the renal elimination of endogenous and exogenous organic anions. Functions as organic anion exchanger when the uptake of one molecule of organic anion is coupled with an efflux of one molecule of endogenous dicarboxylic acid (glutarate, ketoglutarate, etc). Mediates the sodium-independent uptake of 2,3-dimercapto-1-propanesulfonic acid (DMPS) (By similarity). Mediates the sodium-independent uptake of p-aminohippurate (PAH), ochratoxin (OTA), acyclovir (ACV), 3-azido-3-deoxythymidine (AZT), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), hippurate (HA), indoleacetate (IA), indoxyl sulfate (IS) and 3-carboxy-4-methyl-5-propyl-2-furanpropionate (CMPF), cidofovir, adefovir, 9-(2-phosphonylmethoxyethyl) guanine (PMEG), 9-(2-phosphonylmethoxyethyl) diaminopurine (PMEDAP) and edaravone sulfate. PAH uptake is inhibited by p-chloromercuribenzenesulphonate (PCMBS), diethyl pyrocarbonate (DEPC), sulindac, diclofenac, carprofen, glutarate and okadaic acid (By similarity). PAH uptake is inhibited by benzothiazolylcysteine (BTC), S-chlorotrifluoroethylcysteine (CTFC), cysteine S-conjugates S-dichlorovinylcysteine (DCVC), furosemide, steviol, phorbol 12-myristate 13-acetate (PMA), calcium ionophore A23187, benzylpenicillin, furosemide, indomethacin, bumetamide, losartan, probenecid, phenol red, urate, and alpha-ketoglutarate.

Gene Wiki entry for SLC22A6 Gene

Additional gene information for SLC22A6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC22A6 Gene

Genomics for SLC22A6 Gene

Regulatory Elements for SLC22A6 Gene

Enhancers for SLC22A6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H062887 1.5 Ensembl ENCODE dbSUPER 10.1 +95.3 95264 4 PKNOX1 MLX ARID4B DMAP1 TCF12 ZNF121 ATF7 DEK PAF1 NCOA1 BSCL2 TAF6L SNHG1 SLC3A2 SNORD28 TUT1 SNORD22 SLC22A6 AHNAK TTC9C
GH11H062906 1.1 ENCODE dbSUPER 11 +78.9 78880 0 HDGF RB1 TBL1XR1 ZNF2 RAD21 RFX5 ZNF366 ZNF207 ZNF143 RCOR1 SLC22A6 TMEM223 ENSG00000257002 GC11P062886
GH11H062922 1 ENCODE dbSUPER 10.9 +62.7 62733 0 PKNOX1 MAX SIN3A ZIC2 ZEB1 SCRT2 PATZ1 PRDM10 EZH2 MAZ SLC22A6 CHRM1 GC11P062933
GH11H062926 0.5 FANTOM5 10.9 +62.2 62175 0 CTCF MTA3 SLC22A6 CHRM1 GC11P062933
GH11H062923 0.5 ENCODE 10.9 +61.1 61137 0 USF2 MGA EZH2 SLC22A6 CHRM1 GC11P062933
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC22A6 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC22A6 Gene

Chromosome:
11
Start:
62,936,385 bp from pter
End:
62,985,023 bp from pter
Size:
48,639 bases
Orientation:
Minus strand

Genomic View for SLC22A6 Gene

Genes around SLC22A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC22A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC22A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC22A6 Gene

Proteins for SLC22A6 Gene

  • Protein details for SLC22A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4U2R8-S22A6_HUMAN
    Recommended name:
    Solute carrier family 22 member 6
    Protein Accession:
    Q4U2R8
    Secondary Accessions:
    • A8MY93
    • B2D0R6
    • O95187
    • O95742
    • Q7LDA0
    • Q8N192
    • Q9NQA6
    • Q9NQC2
    • Q9UBG6
    • Q9UEQ8

    Protein attributes for SLC22A6 Gene

    Size:
    563 amino acids
    Molecular mass:
    61816 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC22A6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC22A6 Gene

Post-translational modifications for SLC22A6 Gene

  • Glycosylated. Glycosylation at Asn-113 may occur at a secondary level. Glycosylation is necessary for proper targeting of the transporter to the plasma membrane.
  • Glycosylation at isoforms=2, 3, 439, isoforms=2, 3, 456, isoforms=2, 3, 492, Asn97, and isoforms=2, 3, 4113
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC22A6 Gene

Domains & Families for SLC22A6 Gene

Gene Families for SLC22A6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC22A6 Gene

Suggested Antigen Peptide Sequences for SLC22A6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4U2R8

UniProtKB/Swiss-Prot:

S22A6_HUMAN :
  • Multiple cysteine residues are necessary for proper targeting to the plasma membrane.
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
Domain:
  • Multiple cysteine residues are necessary for proper targeting to the plasma membrane.
Family:
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
genes like me logo Genes that share domains with SLC22A6: view

Function for SLC22A6 Gene

Molecular function for SLC22A6 Gene

GENATLAS Biochemistry:
solute carrier protein family 22,member A6,polyspecific transporter for organic cations,mediating the coupled exchange of alpha-ketoglutarate with multiple organic ions,including p-aminohippurate (PAH),expressed strongly in kidney,weakly in brain
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=9.3 uM for PAH (isoform 1) {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; KM=4 uM for PAH (isoform 2) {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; KM=11 uM for edaravone {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; KM=46 uM for cidofovir {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; KM=30 uM for adefovir {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; KM=5.77 uM for 2,4-D {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; KM=23.5 uM for HA {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; KM=14 uM for IA {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; KM=20.5 uM for IS {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; KM=141 uM for CMPF {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; Vmax=534 pmol/min/mg enzyme for 2,4-D uptake {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; Vmax=430 pmol/min/mg enzyme for HA uptake {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; Vmax=110 pmol/min/mg enzyme for IA uptake {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; Vmax=216 pmol/min/mg enzyme for IS uptake {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473}; Vmax=801 pmol/min/mg enzyme for CMPF uptake {ECO:0000269 PubMed:10462545, ECO:0000269 PubMed:10964714, ECO:0000269 PubMed:12538807, ECO:0000269 PubMed:15846473};
UniProtKB/Swiss-Prot Function:
Involved in the renal elimination of endogenous and exogenous organic anions. Functions as organic anion exchanger when the uptake of one molecule of organic anion is coupled with an efflux of one molecule of endogenous dicarboxylic acid (glutarate, ketoglutarate, etc). Mediates the sodium-independent uptake of 2,3-dimercapto-1-propanesulfonic acid (DMPS) (By similarity). Mediates the sodium-independent uptake of p-aminohippurate (PAH), ochratoxin (OTA), acyclovir (ACV), 3-azido-3-deoxythymidine (AZT), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), hippurate (HA), indoleacetate (IA), indoxyl sulfate (IS) and 3-carboxy-4-methyl-5-propyl-2-furanpropionate (CMPF), cidofovir, adefovir, 9-(2-phosphonylmethoxyethyl) guanine (PMEG), 9-(2-phosphonylmethoxyethyl) diaminopurine (PMEDAP) and edaravone sulfate. PAH uptake is inhibited by p-chloromercuribenzenesulphonate (PCMBS), diethyl pyrocarbonate (DEPC), sulindac, diclofenac, carprofen, glutarate and okadaic acid (By similarity). PAH uptake is inhibited by benzothiazolylcysteine (BTC), S-chlorotrifluoroethylcysteine (CTFC), cysteine S-conjugates S-dichlorovinylcysteine (DCVC), furosemide, steviol, phorbol 12-myristate 13-acetate (PMA), calcium ionophore A23187, benzylpenicillin, furosemide, indomethacin, bumetamide, losartan, probenecid, phenol red, urate, and alpha-ketoglutarate.

Gene Ontology (GO) - Molecular Function for SLC22A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005452 inorganic anion exchanger activity IDA 15037815
GO:0005515 protein binding IPI 16189514
GO:0008514 organic anion transmembrane transporter activity IMP 22169006
GO:0015143 urate transmembrane transporter activity IBA --
GO:0015301 anion:anion antiporter activity TAS --
genes like me logo Genes that share ontologies with SLC22A6: view
genes like me logo Genes that share phenotypes with SLC22A6: view

Animal Models for SLC22A6 Gene

MGI Knock Outs for SLC22A6:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC22A6

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC22A6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC22A6 Gene

Localization for SLC22A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC22A6 Gene

Cell 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 SLC22A6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC22A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 14749323
GO:0005901 caveola IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC22A6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC22A6 Gene

Pathways & Interactions for SLC22A6 Gene

genes like me logo Genes that share pathways with SLC22A6: view

Gene Ontology (GO) - Biological Process for SLC22A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006820 anion transport IEA --
GO:0015698 inorganic anion transport IEA --
GO:0015711 organic anion transport IMP 22169006
GO:0015742 alpha-ketoglutarate transport IDA 9950961
GO:0015747 urate transport IBA --
genes like me logo Genes that share ontologies with SLC22A6: view

No data available for SIGNOR curated interactions for SLC22A6 Gene

Drugs & Compounds for SLC22A6 Gene

(134) Drugs for SLC22A6 Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Probenecid Approved Pharma Inhibition, Inhibitor, blocker, Target, Transporter, inhibitor 30
Amoxicillin Approved, Vet_approved Pharma Transporter, inhibitor 487
Cefazolin Approved Pharma Transporter, substrate, inhibitor 124
Cefotiam Approved Pharma Transporter, inhibitor 2
Cidofovir Approved Pharma Transporter, substrate, inhibitor 33

(29) Additional Compounds for SLC22A6 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxychlorpropamide
36892-36-1
3-Hydroxymethylantipyrine
18125-49-0
4-ene-Valproic acid
4'-Hydroxydiclofenac
  • (O-(2,6-Dichloro-4-hydroxyanilino)phenyl)acetic acid
  • 4'-Hydroxy diclofenac
  • 4'-OH DCF
  • {2-[(2,6-dichloro-4-hydroxyphenyl)amino]phenyl}acetic acid
64118-84-9
5'-Hydroxypiroxicam
77459-78-0
genes like me logo Genes that share compounds with SLC22A6: view

Transcripts for SLC22A6 Gene

Unigene Clusters for SLC22A6 Gene

Solute carrier family 22 (organic anion transporter), member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC22A6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SLC22A6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b
SP1: -
SP2:
SP3: - -
SP4: -

Relevant External Links for SLC22A6 Gene

GeneLoc Exon Structure for
SLC22A6
ECgene alternative splicing isoforms for
SLC22A6

Expression for SLC22A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC22A6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC22A6 Gene

This gene is overexpressed in Kidney - Cortex (x47.1).

Protein differential expression in normal tissues from HIPED for SLC22A6 Gene

This gene is overexpressed in Urine (41.5), Plasma (18.5), and Kidney (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC22A6 Gene



Protein tissue co-expression partners for SLC22A6 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC22A6 Gene:

SLC22A6

SOURCE GeneReport for Unigene cluster for SLC22A6 Gene:

Hs.369252

mRNA Expression by UniProt/SwissProt for SLC22A6 Gene:

Q4U2R8-S22A6_HUMAN
Tissue specificity: Strongly expressed in kidney and to a lower extent in liver, skeletal muscle, brain and placenta. Found at the basolateral membrane of the proximal tubule.

Evidence on tissue expression from TISSUES for SLC22A6 Gene

  • Kidney(4.9)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with SLC22A6: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC22A6 Gene

Orthologs for SLC22A6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC22A6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC22A6 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia SLC22A6 33 34
  • 89.8 (n)
cow
(Bos Taurus)
Mammalia SLC22A6 33 34
  • 88.38 (n)
rat
(Rattus norvegicus)
Mammalia Slc22a6 33
  • 86.18 (n)
mouse
(Mus musculus)
Mammalia Slc22a6 33 16 34
  • 85.36 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC22A6 34
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 41 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 54 (a)
ManyToMany
-- 34
  • 52 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490266 33
  • 56.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23285 33
zebrafish
(Danio rerio)
Actinopterygii oatx 33
  • 53.81 (n)
slc22a6l 34
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9767 33
fruit fly
(Drosophila melanogaster)
Insecta CG3790 35
  • 30 (a)
CG8654 35
  • 30 (a)
CG13610 35
  • 29 (a)
CG6356 35
  • 29 (a)
CG6126 35
  • 28 (a)
CG6600 35
  • 28 (a)
CG5592 35
  • 26 (a)
CG14857 35
  • 24 (a)
CG6231 35
  • 24 (a)
CG14855 35
  • 23 (a)
CG16727 35
  • 23 (a)
CG17751 35
  • 23 (a)
CG17752 35
  • 22 (a)
worm
(Caenorhabditis elegans)
Secernentea F52F12.1a 35
  • 28 (a)
oct-1 35
  • 28 (a)
ZK455.8a 35
  • 28 (a)
ZK455.8b 35
  • 28 (a)
K05F1.6 35
  • 26 (a)
Species where no ortholog for SLC22A6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 SLC22A6 Gene

ENSEMBL:
Gene Tree for SLC22A6 (if available)
TreeFam:
Gene Tree for SLC22A6 (if available)

Paralogs for SLC22A6 Gene

Pseudogenes.org Pseudogenes for SLC22A6 Gene

genes like me logo Genes that share paralogs with SLC22A6: view

Variants for SLC22A6 Gene

Sequence variations from dbSNP and Humsavar for SLC22A6 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000108104 -- 62,984,914(+) TTCCC(C/T)TGCAG utr-variant-5-prime
rs1000387451 -- 62,978,773(+) TTTTA(A/G)TAGAG intron-variant
rs1000989446 -- 62,976,974(+) GCTAT(A/G)CCTGG intron-variant
rs1000998373 -- 62,983,798(+) CCTTT(C/T)GAGGA intron-variant
rs1001114593 -- 62,983,421(+) TGAGA(C/G)CCGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC22A6 Gene

Variant ID Type Subtype PubMed ID
dgv204e214 CNV gain 21293372
esv34011 CNV loss 18971310

Variation tolerance for SLC22A6 Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC22A6 Gene

Human Gene Mutation Database (HGMD)
SLC22A6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC22A6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC22A6 Gene

Disorders for SLC22A6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC22A6 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
n-acetylglutamate synthase deficiency
  • hyperammonemia due to n-acetylglutamate synthetase deficiency
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC22A6

Genetic Association Database (GAD)
SLC22A6
Human Genome Epidemiology (HuGE) Navigator
SLC22A6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC22A6
genes like me logo Genes that share disorders with SLC22A6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC22A6 Gene

Publications for SLC22A6 Gene

  1. Cloning of the human kidney PAH transporter: narrow substrate specificity and regulation by protein kinase C. (PMID: 9950961) Lu R … Schuster VL (The American journal of physiology 1999) 2 3 4 22 25 60
  2. Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6). (PMID: 15914676) Bleasby K … Pritchard JB (The Journal of pharmacology and experimental therapeutics 2005) 3 4 22 45 60
  3. The antiviral nucleotide analogs cidofovir and adefovir are novel substrates for human and rat renal organic anion transporter 1. (PMID: 10462545) Cihlar T … Sweet DH (Molecular pharmacology 1999) 3 4 22 25 60
  4. Molecular cloning and characterization of two novel human renal organic anion transporters (hOAT1 and hOAT3). (PMID: 10049739) Race JE … Holtzman EJ (Biochemical and biophysical research communications 1999) 3 4 22 25 60
  5. Molecular cloning and functional expression of a multispecific organic anion transporter from human kidney. (PMID: 9887087) Hosoyamada M … Endou H (The American journal of physiology 1999) 3 4 22 25 60

Products for SLC22A6 Gene

Sources for SLC22A6 Gene

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