SLC12A6 Gene
protein-coding GIFtS: 66
GCID: GC15M034522
|
|
solute carrier family 12 (potassium/chloride transporters),...(Previous name: agenesis of corpus callosum and peripheral neuropathy (Andermann...)
(Previous symbols: KCC3, ACCPN)
| |
Aliases
for SLC12A6 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 12 (Potassium/Chloride Transporters), Member 61 2 | | Potassium Chloride Cotransporter 32 | | KCC31 2 3 5 | | Potassium Chloride Cotransporter KCC3a-S32 | | ACCPN1 2 5 | | Potassium-Chloride Transporter-3a2 | | Electroneutral Potassium-Chloride Cotransporter 32 3 | | Potassium-Chloride Transporter-3b2 | | K-Cl Cotransporter 32 3 | | Solute Carrier Family 12 Member 62 | | KCC3A2 5 | | EC 1.2.4.18 | | KCC3B2 5 | | EC 6.1.1.38 | | Agenesis Of Corpus Callosum And Peripheral Neuropathy (Andermann Syndrome)1 | | |
Export aliases for SLC12A6 gene to outside databasesPrevious GC identifers: GC15M029805 GC15M027241 GC15M032104 GC15M032241 GC15M032312 GC15M011385 |
Summaries
for SLC12A6 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 SLC12A6:
This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins thatlower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded bythis gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multipletranscript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpuscallosum with peripheral neuropathy. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: S12A6_HUMAN, Q9UHW9Function: Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute tocell volume homeostasis in single cells
Gene Wiki entry for SLC12A6
|
Genomic Views
for SLC12A6 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_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SLC12A6 gene promoter:
PPAR-gamma1 SEF-1 (1) Lmo2 CUTL1 PPAR-gamma2
Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC12A6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC12A6 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q13 Ensembl cytogenetic band: 15q14 HGNC cytogenetic band: 15q13SLC12A6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M034522: view genomic region
(about GC identifiers)
Start:
|
34,522,197 bp from pter |
End:
|
34,630,265 bp from pter |
Size:
|
108,069 bases |
Orientation:
|
minus strand |
|
Proteins
for SLC12A6 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: S12A6_HUMAN, Q9UHW9 (See
protein sequence)Recommended Name: Solute carrier family 12 member 6 Size: 1150 amino acids; 127617 Da
Subunit: Homomultimer and heteromultimer with other K-Cl cotransporters (By similarity)
Subcellular location: Basolateral cell membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: A0AV76 Q2VI00 Q7Z2E7 Q7Z4G5 Q8TDD4 Q9UFR2 Q9Y642 Q9Y665Alternative promoter usage, Alternative splicing: 6 isoforms: Q9UHW9-1 Q9UHW9-2 Q9UHW9-3 Q9UHW9-4 Q9UHW9-5 Q9UHW9-6 (Does not differ in the osmotic set point of swelling activation but, activation is more rapid)Explore the universe of human proteins at neXtProt for SLC12A6: NX_Q9UHW9
Post-translational modifications:
N-glycosylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UHW9
2 DME Specific Peptides for SLC12A6 (Q9UHW9)
SLC12A6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (6 alternative transcripts):
NP_001035959.1 NP_001035960.1 NP_001035961.1 NP_001035962.1 NP_005126.1 NP_598408.1
ENSEMBL proteins: ENSP00000380819 ENSP00000454168 ENSP00000346112 ENSP00000452904 ENSP00000387725 ENSP00000453702 ENSP00000380814 ENSP00000452705 ENSP00000454069 ENSP00000290209 ENSP00000453473 ENSP00000452776 ENSP00000454037 ENSP00000452771 ENSP00000452828 ENSP00000452857 ENSP00000390199 Reactome Protein details: Q9UHW9
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
SLC12A6 for ontologies About GeneDecksing
SLC12A6 Antibody Products:
Assay Products for SLC12A6: |
Protein
Domains /
Families
for SLC12A6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC12A6 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UHW9ProtoNet protein and cluster: Q9UHW9 1 Blocks protein family: IPB000076 K-Cl co-transporter signature
UniProtKB/Swiss-Prot: S12A6_HUMAN, Q9UHW9Similarity: Belongs to the SLC12A transporter family |
Function
for SLC12A6 gene
(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: S12A6_HUMAN, Q9UHW9Function: Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute tocell volume homeostasis in single cellsEnzyme regulation: Activated by N-ethylmaleimide (NEM). Inhibited by DIOA, bumetanide and furosemide. Inhibited by WNK3Biophysicochemical properties: Kinetic parameters: KM=10.7 mM for extracellular Rb(+) (isoform 1); KM=7.3 mM forextracellular Cl(-) (isoform 1); KM=17.2 mM for extracellular Rb(+) (isoform 2); KM=8.2 mM for extracellular Cl(-)(isoform 2);Induction: Up-regulated by VEGF. Down-regulated by TNF Genatlas biochemistry entry for SLC12A6:solute carrier family 12 (sodium/potassium/chloride cotransporter),highly expressed in brain,heart,skeletal muscle andkidney,upregulated in vascular endothelial cells by VEGF and decreased by TNF
Enzyme Numbers (IUBMB): EC 1.2.4.12 EC 6.1.1.32
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 SLC12A6 (see all 10)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC12A6 (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 6): SLC12A6 (NM_005135) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC12A6 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC12A6 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A6 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0015379 | potassium:chloride symporter activity |
IDA | 16048901 |
SLC12A6 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for SLC12A6:
Animal Models:
Mouse knock-out Slc12a6tm1.1Garo for SLC12A6
12 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Slc12a6):
SLC12A6 for phenotypes About GeneDecksing
|
Pathways & Interactions
for SLC12A6 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 | Cation-coupled Chloride cotransporters | | | 3 | Amino acid and oligopeptide SLC transporters | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4 
Reactome Pathways for SLC12A6
SLC12A6 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC12A6
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
3 Interacting proteins for SLC12A6 (Q9UHW93 ENSP000003461124) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
SLC12A6 for ontologies About GeneDecksing
|
Drugs & Compounds
for SLC12A6 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
|
SLC12A6 for compounds About GeneDecksing
 Browse Tocris compounds for SLC12A6
1 HMDB Compound for SLC12A6 About this table
1 DrugBank Compound for SLC12A6 About this table
4 Novoseek chemical compound relationships for SLC12A6 gene About this table
Search CenterWatch for drugs/clinical trials and news about SLC12A6 / S12A6
|
Transcripts
for SLC12A6 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,
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 SLC12A6 gene (6 alternative transcripts): NM_001042494.1 NM_001042495.1 NM_001042496.1 NM_001042497.1 NM_005135.2 NM_133647.1 Unigene Cluster for SLC12A6: Solute carrier family 12 (potassium/chloride transporters), member 6 Hs.510939 [show with all ESTs]Unigene Representative Sequence: NM_00104249618/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21): ENST00000397707(uc001zhx.3) ENST00000560611(uc001zhz.3 uc001zhw.3)
ENST00000354181(uc001zib.3 uc001zic.3) ENST00000559523(uc001zht.3)
ENST00000458406(uc001zia.3) ENST00000559664 ENST00000397702(uc001zid.3)
ENST00000560164(uc001zhu.3) ENST00000561080(uc001zhy.3 uc010bau.3)
ENST00000290209(uc001zhv.3) ENST00000558667 ENST00000558589 ENST00000559076
ENST00000559441 ENST00000558950 ENST00000560023 ENST00000560332 ENST00000561120
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC12A6 (see all 10)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC12A6 (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 6): SLC12A6 (NM_005135) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC12A6 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC12A6 |
Additional cDNA sequence: AF105366.1 AF108831.1 AF116242.1 AF477977.1 AF531258.1 AF531259.1 AF531260.1 AK056019.1 AK128133.1 AK292550.1 AK315283.1 AL117500.1 BC033894.1 BC051709.1 BC051744.1 BC070107.1 BC126241.1 BC126243.1 BC127855.1 BC150584.1 BX648195.1 DQ138323.1 23 DOTS entries: DT.211584 DT.92439651 DT.95096912 DT.100658962 DT.99998399 DT.211583 DT.100722154 DT.121056342 DT.101982512 DT.121056275 DT.95123220 DT.100708240 DT.95151093 DT.95241237 DT.100647501 DT.101978597 DT.121056268 DT.75131979 DT.100810119 DT.101976770 DT.121056309 DT.211585 DT.453348 24/64 AceView cDNA sequences (see all 64): BC051744 AI590809 AL117500 BC070107 BC051709 AF108831 AF116242 BF445366 AW194285 NM_005135 BU623116 AK128133 AW294549 BM702804 BX648195 AF531258 AF477977 BC033894 AI915951 CB998883 BI825527 BG622114 AI127820 AI364973
GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A6 (see all 13) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · |
|---|
|
| SP1: | | | - | | - | | - | | - | | - | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | - | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 18b | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23 | ^ | 24a | · | 24b | · | 24c | ^ | 25a | · | 25b | · | 25c | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b |
|---|
|
| SP1: | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | |
| SP5: | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for SLC12A6
|
Expression
for SLC12A6 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
| SLC12A6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATAAGCTGA
About this image
See SLC12A6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC12A6
SOURCE GeneReport for Unigene cluster: Hs.510939
UniProtKB/Swiss-Prot: S12A6_HUMAN, Q9UHW9Tissue specificity: Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle, placenta,lung and pancreas. Detected in umbilical vein endothelial cells. Isoform 2 is more abundant in kidney. Isoform 5 istestis specific. Expressed in the proximal tubule of the kidney (at protein level)
SABiosciences Custom PCR Arrays for SLC12A6
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC12A6
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC12A6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC12A6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC12A6 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A6 |
Orthologs
for SLC12A6 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 SLC12A6 gene from 7/23 species (see all 23) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
SLC12A66 |
-- |
89(a) |
1 ↔ 1 |
GL343220.1(791863-832107) |
African clawed frog
(Xenopus laevis) |
Amphibia |
LOC3986632 |
hypothetical protein LOC398663 |
75.95(n) |
|
AF325505.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
slc12a7b1 |
solute carrier family 12, member 7b |
67.55(n)
71.67(a) |
|
567667 XM_690968.5 XP_696060.5 |
fruit fly
(Drosophila melanogaster) |
Insecta |
kcc6 |
kazachoc |
55(a) |
1 → many |
2R(19795651-19812619) |
worm
(Caenorhabditis elegans) |
Secernentea |
H16O14.13
kcc-11 |
Protein KCC-11 |
48(a)
(best of 3)3
53.28(n)1
47.33(a)1 |
|
IV(6065705-6074152)3
1774951 NM_068740.41 NP_501141.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
CCC16 |
cation-chloride co-transporter 1 |
34(a) |
1 → many |
1(10762739-10769532) |
rice
(Oryza sativa) |
Liliopsida |
---- |
amino acid permease family protein, putative |
34(a)32(a) |
many ↔ manymany ↔ many |
8(14183430-14192706) 1(11253120-11260660) |
ENSEMBL Gene Tree for SLC12A6 (if available)
TreeFam Gene Tree for SLC12A6 (if available) |
Paralogs
for SLC12A6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SLC12A6 gene
- SLC12A72 SLC12A12 SLC12A42 SLC12A52 SLC12A82 SLC12A32 SLC12A92 SLC12A22
8 SIMAP similar genes for SLC12A6 using alignment to 11 protein entries: S12A6_HUMAN (see all proteins):DKFZp686O1827 SLC12A4 SLC12A7 SLC12A5 SLC12A9 SLC12A8
SLC12A3 SLC12A1
SLC12A6 for paralogs About GeneDecksing
|
Genomic Variants
for SLC12A6 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 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SLC12A6 (34522197 - 34630265 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for SLC12A6
6 CNVs: 0783 87616 0187 3957 58714 7058
Human Gene Mutation Database (HGMD): SLC12A6
Locus Specific Mutation Databases (LSDB): SLC12A6
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC12A6 |
|
Disorders
/ Diseases
for SLC12A6 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
|
SLC12A6 for disorders About GeneDecksing
OMIM gene information: 604878
OMIM disorders: 218000
UniProtKB/Swiss-Prot: S12A6_HUMAN, Q9UHW9
Defects in SLC12A6 are a cause of agenesis of the corpus callosum with peripheral neuropathy (ACCPN)[MIM:218000]. ACCPN is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphicfeatures and complete or partial agenesis of the corpus callosum
20  diseases for SLC12A6: About MalaCardsagenesis of the corpus callosum with peripheral neuropathy corpus callosum peripheral neuropathy neuropathy
aicardi-goutieres syndrome partial agenesis of corpus callosum idiopathic generalized epilepsy generalized epilepsy
motor peripheral neuropathy autism spectrum disorder spastic paraplegia paraplegia
spasticity bipolar disorder hermaphroditism cervical cancer
cervicitis ovarian cancer breast cancer neuronitis
2 diseases from the University of Copenhagen DISEASES database for SLC12A6:Peripheral neuropathy Benign epilepsy with centrotemporal spikes 4 Novoseek disease relationships for SLC12A6 gene About this table
GeneTests: SLC12A6
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Genetic Association Database (GAD): SLC12A6
Human Genome Epidemiology (HuGE) Navigator: SLC12A6 (4 documents)
Export disorders for SLC12A6 gene to outside databases
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Publications
for SLC12A6 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)
About This Section
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PubMed articles for SLC12A6 gene, integrated from 9 sources (see all 49):
(articles sorted by number of sources associating them with SLC12A6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. (PubMed id 10347194)1, 2, 3, 9 Mount D.B....Gamba G. (1999)
- Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter. (PubMed id 10187864)1, 2, 3, 9 Hiki K.... Gamble J.R. (1999)
- NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter. (PubMed id 16048901)1, 2, 9 Mercado A.... Mount D.B. (2005)
- Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter. (PubMed id 10600773)1, 2, 9 Race J.E....Holtzman E.J. (1999)
- The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. (PubMed id 12368912)1, 2, 9 Howard H.C.... Rouleau G.A. (2002)
- Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. (PubMed id 21613606)1, 2 Cruz-Rangel S.... Mercado A. (2011)
- Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder. (PubMed id 16098236)1, 4 Meyer J....Lesch K.P. (2005)
- A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity. (PubMed id 11551954)1, 2 Casula S.... Alper S.L. (2001)
- Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation site. (PubMed id 18536702)1, 9 Moser D....Meyer J. (2009)
- Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. (PubMed id 16606917)1, 9 Uyanik G....Winkler J. (2006)
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External Searches for SLC12A6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing SLC12A6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SLC12A6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC12A6 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for SLC12A6 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC12A6 |
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| | |
About This Section
| Patent Information for SLC12A6 gene:
Search GeneIP for patents involving SLC12A6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SLC12A6 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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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
About This Section
|
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