This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding dif... See more...

Aliases for SLC12A6 Gene

Aliases for SLC12A6 Gene

  • Solute Carrier Family 12 Member 6 2 3 4 5
  • Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 6 2 3
  • Electroneutral Potassium-Chloride Cotransporter 3 3 4
  • K-Cl Cotransporter 3 3 4
  • KCC3 3 4
  • Agenesis Of Corpus Callosum And Peripheral Neuropathy (Andermann Syndrome) 2
  • Solute Carrier Family 12 (Potassium/Chloride Transporters), Member 6 3
  • Potassium Chloride Cotransporter KCC3a-S3 3
  • Potassium Chloride Cotransporter 3 3
  • Potassium-Chloride Transporter-3a 3
  • Potassium-Chloride Transporter-3b 3
  • EC 1.2.4.1 51
  • EC 6.1.1.3 51
  • SLC12A6 5
  • ACCPN 3
  • KCC3A 3
  • KCC3B 3

External Ids for SLC12A6 Gene

Previous HGNC Symbols for SLC12A6 Gene

  • KCC3
  • ACCPN

Previous GeneCards Identifiers for SLC12A6 Gene

  • GC15M029805
  • GC15M027241
  • GC15M032104
  • GC15M032241
  • GC15M032312
  • GC15M034522
  • GC15M011385

Summaries for SLC12A6 Gene

Entrez Gene Summary for SLC12A6 Gene

  • This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC12A6 Gene

SLC12A6 (Solute Carrier Family 12 Member 6) is a Protein Coding gene. Diseases associated with SLC12A6 include Agenesis Of The Corpus Callosum With Peripheral Neuropathy and Neuropathy. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include protein kinase binding and cation:chloride symporter activity. An important paralog of this gene is SLC12A4.

UniProtKB/Swiss-Prot Summary for SLC12A6 Gene

  • Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells.

Gene Wiki entry for SLC12A6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC12A6 Gene

Genomics for SLC12A6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC12A6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC12A6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC12A6

Top Transcription factor binding sites by QIAGEN in the SLC12A6 gene promoter:
  • CUTL1
  • Lmo2
  • PPAR-gamma1
  • PPAR-gamma2
  • SEF-1 (1)

Genomic Locations for SLC12A6 Gene

Latest Assembly
chr15:34,229,784-34,338,060
(GRCh38/hg38)
Size:
108,277 bases
Orientation:
Minus strand

Previous Assembly
chr15:34,521,985-34,630,258
(GRCh37/hg19 by Entrez Gene)
Size:
108,274 bases
Orientation:
Minus strand

chr15:34,525,460-34,630,261
(GRCh37/hg19 by Ensembl)
Size:
104,802 bases
Orientation:
Minus strand

Genomic View for SLC12A6 Gene

Genes around SLC12A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC12A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC12A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC12A6 Gene

Proteins for SLC12A6 Gene

  • Protein details for SLC12A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHW9-S12A6_HUMAN
    Recommended name:
    Solute carrier family 12 member 6
    Protein Accession:
    Q9UHW9
    Secondary Accessions:
    • A0AV76
    • Q2VI00
    • Q7Z2E7
    • Q7Z4G5
    • Q8TDD4
    • Q9UFR2
    • Q9Y642
    • Q9Y665

    Protein attributes for SLC12A6 Gene

    Size:
    1150 amino acids
    Molecular mass:
    127617 Da
    Quaternary structure:
    • Homomultimer and heteromultimer with other K-Cl cotransporters.
    Miscellaneous:
    • [Isoform 2]: Produced by alternative promoter usage.
    • [Isoform 3]: Does not differ in the osmotic set point of swelling activation but, activation is more rapid.
    • [Isoform 5]: Does not differ in the osmotic set point of swelling activation but, activation is more rapid.

    Three dimensional structures from OCA and Proteopedia for SLC12A6 Gene

    Alternative splice isoforms for SLC12A6 Gene

neXtProt entry for SLC12A6 Gene

Selected DME Specific Peptides for SLC12A6 Gene

Q9UHW9:
  • RLEEGPP
  • RVYGTAF

Post-translational modifications for SLC12A6 Gene

  • N-glycosylated.
  • Glycosylation at Asn379, Asn398, Asn411, and Asn428
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • S12A6_HUMAN (1762)

Domains & Families for SLC12A6 Gene

Gene Families for SLC12A6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC12A6 Gene

InterPro:
Blocks:
  • K-Cl co-transporter signature
ProtoNet:

Suggested Antigen Peptide Sequences for SLC12A6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96296, Homo sapiens solute carrier family 12 (potassium/chloridetransporters), member 6 (SLC12A6), mRNA (A0AV76_HUMAN)
  • SLC12A6 protein (A7E2U9_HUMAN)
  • SLC12A6 protein (Q3ZCQ6_HUMAN)
  • Solute carrier family 12 (Potassium/chloride transporters), member 6 (Q6NSI7_HUMAN)
  • K-Cl cotransporter 3 (S12A6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHW9

UniProtKB/Swiss-Prot:

S12A6_HUMAN :
  • Belongs to the SLC12A transporter family.
Family:
  • Belongs to the SLC12A transporter family.
genes like me logo Genes that share domains with SLC12A6: view

Function for SLC12A6 Gene

Molecular function for SLC12A6 Gene

UniProtKB/Swiss-Prot Function:
Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells.
UniProtKB/Swiss-Prot Induction:
Up-regulated by VEGF. Down-regulated by TNF.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10.7 mM for extracellular Rb(+) (isoform 1) {ECO:0000269|PubMed:16048901}; KM=7.3 mM for extracellular Cl(-) (isoform 1) {ECO:0000269|PubMed:16048901}; KM=17.2 mM for extracellular Rb(+) (isoform 2) {ECO:0000269|PubMed:16048901}; KM=8.2 mM for extracellular Cl(-) (isoform 2) {ECO:0000269|PubMed:16048901};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by N-ethylmaleimide (NEM). Inhibited by DIOA, bumetanide and furosemide. Inhibited by WNK3.
GENATLAS Biochemistry:
solute carrier family 12 (sodium/potassium/chloride cotransporter),highly expressed in brain,heart,skeletal muscle and kidney,upregulated in vascular endothelial cells by VEGF and decreased by TNF

Enzyme Numbers (IUBMB) for SLC12A6 Gene

Phenotypes From GWAS Catalog for SLC12A6 Gene

Gene Ontology (GO) - Molecular Function for SLC12A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008519 ammonium transmembrane transporter activity IDA 12657561
GO:0015079 potassium ion transmembrane transporter activity IDA --
GO:0015293 symporter activity IEA --
GO:0015377 cation:chloride symporter activity IEA --
GO:0015379 potassium:chloride symporter activity IEA,IDA 10187864
genes like me logo Genes that share ontologies with SLC12A6: view
genes like me logo Genes that share phenotypes with SLC12A6: view

Human Phenotype Ontology for SLC12A6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC12A6 Gene

MGI Knock Outs for SLC12A6:

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC12A6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC12A6

Clone products for research

No data available for Transcription Factor Targets and HOMER Transcription for SLC12A6 Gene

Localization for SLC12A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC12A6 Gene

Basolateral 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 SLC12A6 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC12A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10187864
GO:0016323 basolateral plasma membrane ISS --
genes like me logo Genes that share ontologies with SLC12A6: view

Pathways & Interactions for SLC12A6 Gene

genes like me logo Genes that share pathways with SLC12A6: view

SIGNOR curated interactions for SLC12A6 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SLC12A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis NAS 10187864
GO:0006811 ion transport IEA,TAS --
GO:0006813 potassium ion transport IEA --
GO:0006884 cell volume homeostasis IBA 21873635
GO:0007268 chemical synaptic transmission IBA 21873635
genes like me logo Genes that share ontologies with SLC12A6: view

Drugs & Compounds for SLC12A6 Gene

(5) Drugs for SLC12A6 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium chloride Approved, Withdrawn Pharma Target, Transporter, substrate 0
Chloride ion Experimental Pharma 0
DIOA Pharma Inhibitor, Inhibition 0

(1) Additional Compounds for SLC12A6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC12A6: view

Transcripts for SLC12A6 Gene

mRNA/cDNA for SLC12A6 Gene

7 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC12A6

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A6 Gene

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: - -
SP6: - - -
SP7: -
SP8: - - - - - -
SP9: - - - - - - -
SP10: - - - - - -
SP11:
SP12:
SP13:

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: - - - -
SP6: - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:

Relevant External Links for SLC12A6 Gene

GeneLoc Exon Structure for
SLC12A6

Expression for SLC12A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC12A6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC12A6 Gene

This gene is overexpressed in Whole Blood (x5.3).

Protein differential expression in normal tissues from HIPED for SLC12A6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.5), Plasma (14.8), and Lymph node (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC12A6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC12A6

SOURCE GeneReport for Unigene cluster for SLC12A6 Gene:

Hs.510939

mRNA Expression by UniProt/SwissProt for SLC12A6 Gene:

Q9UHW9-S12A6_HUMAN
Tissue 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 is testis specific. Expressed in the proximal tubule of the kidney (at protein level).

Evidence on tissue expression from TISSUES for SLC12A6 Gene

  • Nervous system(4.6)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC12A6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • bronchus
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SLC12A6: view

Primer products for research

No data available for Protein tissue co-expression partners for SLC12A6 Gene

Orthologs for SLC12A6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC12A6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC12A6 30 31
  • 99.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gm21985 31
  • 98 (a)
OneToMany
Slc12a6 30 17 31
  • 90.61 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia SLC12A6 31
  • 97 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A6 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC12A6 30 31
  • 92.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC12A6 30 31
  • 92.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc12a6 30
  • 91.07 (n)
Lizard
(Anolis carolinensis)
Reptilia SLC12A6 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc12a6 30
  • 72.13 (n)
Str.7199 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398663 30
Zebrafish
(Danio rerio)
Actinopterygii SLC12A6 (2 of 2) 31
  • 83 (a)
OneToMany
slc12a7b 30
  • 67.54 (n)
SLC12A6 (1 of 2) 31
  • 62 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta kcc 31
  • 56 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea H16O14.1 32
  • 48 (a)
kcc-2 31
  • 46 (a)
OneToMany
R13A1.2 32
  • 44 (a)
K02A2.3 32
  • 37 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2084 31
  • 55 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.10069 30
Species where no ortholog for SLC12A6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • 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 SLC12A6 Gene

ENSEMBL:
Gene Tree for SLC12A6 (if available)
TreeFam:
Gene Tree for SLC12A6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC12A6: view image

Paralogs for SLC12A6 Gene

Paralogs for SLC12A6 Gene

(8) SIMAP similar genes for SLC12A6 Gene using alignment to 11 proteins:

  • S12A6_HUMAN
  • A7E2U9_HUMAN
  • B3KXX3_HUMAN
  • H0YKE6_HUMAN
  • H0YKJ2_HUMAN
  • H0YKL8_HUMAN
  • H0YKQ8_HUMAN
  • H0YMQ9_HUMAN
  • H0YNJ5_HUMAN
  • Q3ZCQ6_HUMAN
  • Q6NSI7_HUMAN
genes like me logo Genes that share paralogs with SLC12A6: view

Variants for SLC12A6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC12A6 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
834852 Likely Pathogenic: not provided 34,336,408(-) A/C
NM_001365088.1(SLC12A6):c.271+2T>G
SPLICE_DONOR
835797 Pathogenic: not provided 34,261,000(-) G/A
NM_001365088.1(SLC12A6):c.337C>T (p.Arg113Ter)
NONSENSE
856312 Likely Pathogenic: not provided 34,240,659(-) A/G
NM_001365088.1(SLC12A6):c.2436+2T>C
SPLICE_DONOR
884491 Uncertain Significance: Agenesis of the corpus callosum with peripheral neuropathy 34,230,053(-) A/C
NM_001365088.1(SLC12A6):c.*3828T>G
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
884492 Uncertain Significance: Agenesis of the corpus callosum with peripheral neuropathy 34,230,126(-) A/G
NM_001365088.1(SLC12A6):c.*3755T>C
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC12A6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC12A6 Gene

Variant ID Type Subtype PubMed ID
dgv4456n54 CNV gain 21841781
dgv448e214 CNV loss 21293372
esv2659969 CNV deletion 23128226
esv2662279 CNV deletion 23128226
esv2760024 CNV gain+loss 17122850
esv33337 CNV gain+loss 17666407
esv3569431 CNV gain 25503493
esv3636106 CNV gain 21293372
esv3636108 CNV loss 21293372
esv3636110 CNV loss 21293372
nsv1051403 CNV loss 25217958
nsv1052620 CNV gain 25217958
nsv1127423 CNV deletion 24896259
nsv1127424 CNV deletion 24896259
nsv1138354 CNV deletion 24896259
nsv428303 CNV gain 18775914
nsv469547 CNV loss 16826518
nsv471682 CNV gain+loss 15918152
nsv472676 CNV novel sequence insertion 20440878
nsv819906 CNV loss 19587683

Variation tolerance for SLC12A6 Gene

Residual Variation Intolerance Score: 1.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC12A6 Gene

Human Gene Mutation Database (HGMD)
SLC12A6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC12A6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A6 Gene

Disorders for SLC12A6 Gene

MalaCards: The human disease database

(30) MalaCards diseases for SLC12A6 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
agenesis of the corpus callosum with peripheral neuropathy
  • accpn
neuropathy
  • peripheral neuropathy
corpus callosum, agenesis of
  • acc
hereditary motor and sensory neuropathy with agenesis of the corpus callosum
  • agenesis of corpus callosum with peripheral neuropathy
motor peripheral neuropathy
  • hereditary motor and sensory neuropathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S12A6_HUMAN
  • Agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) [MIM:218000]: A disease that is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SLC12A6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC12A6: view

No data available for Genatlas for SLC12A6 Gene

Publications for SLC12A6 Gene

  1. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. (PMID: 12368912) Howard HC … Rouleau GA (Nature genetics 2002) 3 4 23 41
  2. Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. (PMID: 10347194) Mount DB … Gamba G (The Journal of biological chemistry 1999) 2 3 4 23
  3. Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter. (PMID: 10187864) Hiki K … Gamble JR (The Journal of biological chemistry 1999) 2 3 4 23
  4. Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. (PMID: 16606917) Uyanik G … Winkler J (Neurology 2006) 3 23 74
  5. NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter. (PMID: 16048901) Mercado A … Mount DB (American journal of physiology. Renal physiology 2005) 3 4 23

Products for SLC12A6 Gene

  • Biorbyt antibodies for SLC12A6

Sources for SLC12A6 Gene