Gene Gene information from NCBI Gene database.
Entrez ID 9990
Gene name Solute carrier family 12 member 6
Gene symbol SLC12A6
Synonyms (NCBI Gene)
ACCPNCMT2IIKCC3KCC3AKCC3B
Chromosome 15
Chromosome location 15q14
Summary 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 activa
SNPs SNP information provided by dbSNP.
46
SNP ID Visualize variation Clinical significance Consequence
rs35583475 G>A,T Likely-pathogenic, likely-benign, benign Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs121908427 G>A,T Pathogenic Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs121908428 G>A Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs121908429 G>A Uncertain-significance, pathogenic Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs140916001 C>G Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
438
miRTarBase ID miRNA Experiments Reference
MIRT039459 hsa-miR-652-3p CLASH 23622248
MIRT380515 hsa-miR-126-5p HITS-CLIP 23313552
MIRT699474 hsa-miR-5689 HITS-CLIP 23313552
MIRT699473 hsa-miR-4795-3p HITS-CLIP 23313552
MIRT385812 hsa-miR-888-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis NAS 10187864
GO:0005515 Function Protein binding IPI 24655550
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 19665974
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604878 10914 ENSG00000140199
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHW9
Protein name Solute carrier family 12 member 6 (Electroneutral potassium-chloride cotransporter 3) (K-Cl cotransporter 3)
Protein function [Isoform 1]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:10600773, PubMed:11551954, PubMed:16048901, PubMed:18566107, PubMed:19665974, PubMed:21628467, PubMed:27485015). May contribute to cell v
PDB 6M1Y , 6M22 , 6Y5R , 6Y5V , 7AIN , 7AIO , 7D90 , 7NGB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00324 AA_permease 190 384 Amino acid permease Family
PF00324 AA_permease 456 761 Amino acid permease Family
PF03522 SLC12 773 897 Solute carrier family 12 Family
PF03522 SLC12 893 1150 Solute carrier family 12 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain (at protein level) (PubMed:21628467). Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle, placenta, lung and pancreas (PubMed:10600773). Detected in umbilical vein endothelial ce
Sequence
MHPPETTTKMASVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPM
SEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNS
NYEEGDEYFDKNLALFEEEMDTRPKVSSLLNRMANYTNLTQGAKEHEEAENITEGKKKPT
KTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSA
IATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAA
IFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYA
GAIKSSFAPPHFPVCMLGNRTLSS
RHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATC
DEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGSLNHEYVLVD
ITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGA
CIEGVVLRDKFGDAVKGNLVVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAK
DNIIPFLRVFGHSKANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLA
CALQTLLRTPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQ
GAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLV
LLKLDEDLHVKHPRLLTFA
SQLKAGKGLTIVGSVIVGNFLENYGEALAAEQTIKHLMEAEKVKGFCQLVVAAKLREGIS
HLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLV
AKNISFFP
SNVEQFSEGNIDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDL
ATFLYHLRIEAEVEVVEMHDSDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKD
RNSMLRLTSIGSDEDEETETYQEKVHMTWTKDKYMASRGQKAKSMEGFQDLLNMRPDQSN
VRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGLERVLLVRG
GGSEVITIYS
Sequence length 1150
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cation-coupled Chloride cotransporters
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
543
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Likely pathogenic; Pathogenic rs1555380716 RCV000626992
Agenesis of the corpus callosum with peripheral neuropathy Likely pathogenic; Pathogenic rs751184319, rs1892451015, rs1184523433, rs897661402, rs776790336, rs2140726249, rs515726216, rs515726217, rs515726218, rs2140641550, rs752155450, rs199747285, rs2509775205, rs2509746048, rs1057517109
View all (113 more)
RCV001331364
RCV001331365
RCV003473927
RCV003473989
RCV001810045
RCV002250428
RCV000123392
RCV000123393
RCV000123394
RCV002563623
RCV002260549
RCV000147487
RCV002281814
RCV004801189
RCV002306465
RCV002306563
RCV002306670
RCV002306780
RCV002306815
RCV002309551
RCV002309623
RCV002309864
RCV002309958
RCV002310002
RCV002307914
RCV002308053
RCV002308126
RCV002308127
RCV002308305
RCV002308379
RCV002309309
RCV002309323
RCV002309368
RCV002309523
RCV002307133
RCV002307185
RCV002307200
RCV002307298
RCV002310192
RCV002310342
RCV002310345
RCV002310425
RCV002310450
RCV002310508
RCV002308460
RCV000169349
RCV000005652
RCV000005653
RCV000005656
RCV000005658
RCV003475421
RCV003230845
RCV003472725
RCV003472726
RCV003472727
RCV003472728
RCV003472730
RCV003472731
RCV003472732
RCV003472733
RCV003472734
RCV003472735
RCV003472736
RCV003472737
RCV003472738
RCV003472739
RCV003472740
RCV003472741
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RCV003472744
RCV003472745
RCV003472746
RCV003472747
RCV003472748
RCV003472749
RCV003472750
RCV003472751
RCV003472752
RCV003472753
RCV003472754
RCV003472755
RCV003472756
RCV004574127
RCV004573245
RCV004573590
RCV004573591
RCV004573593
RCV004573594
RCV004573595
RCV004573596
RCV004573597
RCV004573598
RCV004573599
RCV004573600
RCV004573601
RCV004573602
RCV000409972
RCV000412065
RCV000408984
RCV000409518
RCV000409483
RCV000410487
RCV000409353
RCV000412124
RCV000410684
RCV000412042
RCV000409503
RCV000412092
RCV000409555
RCV000409680
RCV000411505
RCV000411830
RCV000409255
RCV000415112
RCV000023393
RCV000499636
RCV000667819
RCV000665600
RCV000671644
RCV000672572
RCV000666234
RCV000674726
RCV000670221
RCV000667490
RCV000666946
RCV000671052
RCV000674008
RCV000670193
RCV001004403
RCV003473615
RCV001330022
Charcot-Marie-Tooth disease Likely pathogenic; Pathogenic rs606231157, rs606231158, rs762730861, rs606231229, rs515726215, rs1595430425 RCV000790224
RCV000790221
RCV000789681
RCV000790222
RCV000790219
RCV000790220
Charcot-Marie-Tooth disease, axonal, IIa 2II Likely pathogenic; Pathogenic rs2140693876, rs2140682156, rs199747285, rs2509746048, rs2509820987, rs121908427, rs1416593064, rs1162530361, rs1057516969, rs1057516337, rs515726215, rs1555381416, rs768514327, rs1054429141, rs1462170681 RCV004801051
RCV002287901
RCV005008055
RCV002287912
RCV002287913
RCV002287915
RCV005007826
RCV005008754
RCV005012973
RCV005010292
RCV005010290
RCV005010437
RCV002287895
RCV005010663
RCV005012462
RCV005005078
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs73374491 RCV005902270
Autosomal recessive axonal hereditary motor and sensory neuropathy Uncertain significance rs1555378419 RCV000664253
Cervical cancer Benign rs28543997 RCV005916773
Cholangiocarcinoma Benign rs28543997, rs2615351, rs73374491 RCV005916776
RCV005902151
RCV005902272
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 16098236, 31439721, 35733399, 36542484
Barrett Esophagus Associate 29551738
beta Thalassemia Stimulate 18024369
Bipolar Disorder Associate 16098236
Central Nervous System Diseases Associate 35733399
Charcot Marie Tooth Disease Associate 31439721, 35733399
Cognition Disorders Associate 35733399
Corpus callosum agenesis neuronopathy Associate 16098236, 34706912
Demyelinating Diseases Associate 31439721
Disease Associate 35749392