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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC12A8 Gene

protein-coding GIFtS: 47
GCID: GC03M124832

solute carrier family 12 (potassium/chloride transporters),...

Explore 1 disease affiliated with
SLC12A8 via

MalaCards

our new
Human Malady Compendium

(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 8¹ ²
CCC9¹ ² ³
Cation-Chloride Cotransporter 9² ³
Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 8²
Solute Carrier Family 12 Member 8²

External Ids:	HGNC: 15595¹	Entrez Gene: 84561²	Ensembl: ENSG00000221955⁷	OMIM: 611316⁵	UniProtKB: A0AV02³

Export aliases for SLC12A8 gene to outside databases

Previous GC identifers: GC03M121548 GC03M126083 GC03M126122 GC03M126284 GC03M122175

(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 SLC12A8:

This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants

of this gene have been described, but the full-length nature of some of these variants has not been determined.

(provided by RefSeq, Sep 2010)

UniProtKB/Swiss-Prot: S12A8_HUMAN, A0AV02

Function: Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation

Gene Wiki entry for SLC12A8

(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_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC12A8 gene promoter:
CUTL1 Nkx2-5 E47 S8 POU2F1 Ik-2 HFH-1 Sox9 Ik-1 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC12A8 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC12A8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC12A8

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.2 Ensembl cytogenetic band: 3q21.2 HGNC cytogenetic band: 3q21.2

SLC12A8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC12A8 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M124832: view genomic region (about GC identifiers)

Start:	124,801,480 bp from pter	End:	124,998,021 bp from pter
Size:	196,542 bases	Orientation:	minus strand

(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: S12A8_HUMAN, A0AV02 (See protein sequence)

Recommended Name: Solute carrier family 12 member 8

Size: 714 amino acids; 78223 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=AAH20506.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAH63528.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH63528.1;

Type=Frameshift; Positions=569; Sequence=AAK94307.1; Type=Erroneous gene model prediction; Sequence=AAM73657.1;

Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAD97969.1; Type=Erroneous initiation;

Note=Translation N-terminally shortened;

Secondary accessions: C9JJJ2 Q68D04 Q6I9Z2 Q6P4C0 Q7Z3A6 Q86WK0 Q8NFX9 Q8WUI3 Q96RF9 Q9H5P9

Alternative splicing: 5 isoforms: A0AV02-1 A0AV02-2 A0AV02-3 A0AV02-4 A0AV02-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC12A8: NX_A0AV02

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_A0AV02

SLC12A8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001182412.1 NP_078904.3

ENSEMBL proteins:

ENSP00000415713 ENSP00000377112 ENSP00000419424 ENSP00000418783 ENSP00000420197

ENSP00000418636 ENSP00000404243 ENSP00000323632

Human Recombinant Protein Products for SLC12A8:

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	Uscn Proteins for SLC12A8

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	--	--
GO:0016021	integral to membrane	IEA	--

SLC12A8 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC12A8

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC12A8 for domains About GeneDecksing

1 InterPro domain/family:

IPR004841 AA-permease_dom

Graphical View of Domain Structure for InterPro Entry A0AV02

ProtoNet protein and cluster: A0AV02

UniProtKB/Swiss-Prot: S12A8_HUMAN, A0AV02

Similarity: Belongs to the SLC12A transporter family

(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: S12A8_HUMAN, A0AV02

Function: Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation

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:0015293	symporter activity	IEA	--

SLC12A8 for ontologies About GeneDecksing

Phenotypes:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Slc12a8):

normal

SLC12A8 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC12A8

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In Situ Assay
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(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SLC12A8

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006813	potassium ion transport	IEA	--
GO:0055085	transmembrane transport	--	--

SLC12A8 for ontologies About GeneDecksing

(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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC12A8

1 HMDB Compound for SLC12A8 About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--

Search CenterWatch for drugs/clinical trials and news about SLC12A8 / S12A8

(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,
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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 SLC12A8 gene (2 alternative transcripts):

NM_001195483.1 NM_024628.5

Unigene Cluster for SLC12A8:

Solute carrier family 12 (potassium/chloride transporters), member 8

Hs.658514 [show with all ESTs]

Unigene Representative Sequence: NM_024628

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000430155(uc003eht.4 uc010hry.3) ENST00000393469(uc003ehv.4)

ENST00000473262 ENST00000465475 ENST00000469902(uc010hrz.1) ENST00000479352

ENST00000483944 ENST00000461616 ENST00000485954 ENST00000479231 ENST00000465777

ENST00000495105 ENST00000485849 ENST00000479826 ENST00000462437 ENST00000481760

ENST00000423114(uc003ehw.4) ENST00000314584

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Additional cDNA sequence:

AF345197.1 AF390442.1 AK026841.1 AK123001.1 AK308484.1 BC020506.1 BC063528.1 BC126158.1

BC126160.1 BX538023.1 CR457363.1

9 DOTS entries:

DT.310637 DT.97838644 DT.91883193 DT.101983324 DT.91904941 DT.100774290 DT.120909144 DT.92414678

DT.120909177

24/314 AceView cDNA sequences (see all 314):

AA721431 BC018971 BQ674550 BM719799 CR596399 AA383189 BQ686353 AI669012

AF039019 AA325583 AA084104 AA213407 AI669304 BU739668 AA213408 AI735246

T08836 N99677 AU133977 AA593021 AA236157 AA291644 BU952543 AA909681

GeneLoc Exon Structure

(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

SLC12A8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SLC12A8 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)

Bone, Cartilage, Limb

See SLC12A8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC12A8

SOURCE GeneReport for Unigene cluster: Hs.658514

UniProtKB/Swiss-Prot: S12A8_HUMAN, A0AV02

Tissue specificity: Ubiquitous with very low level in normal skin

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In Situ
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(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 animals.

Orthologs for SLC12A8 gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC424258¹	solute carrier family 12 member 8-like	69(n) 68.24(a)		424258 XM_003641624.1 XP_003641672.1
lizard (Anolis carolinensis)	Reptilia	-- --	--	83(a) 53(a)	1 ↔ many 1 ↔ many	AAWZ02037227(7631-15572) 1(77982987-77992751)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.18155²	Transcribed sequence with weak similarity to protein more	80.65(n)		AL956069.2
zebrafish (Danio rerio)	Actinopterygii	wufi11e03²	Transcribed sequence with weak similarity to protein more	73.25(n)		57063469
fruit fly (Drosophila melanogaster)	Insecta	CG12773¹	CG12773	54.12(n) 43.54(a)		31082 NM_130549.2 NP_569905.1
worm (Caenorhabditis elegans)	Secernentea	F10E7.9¹	Protein F10E7.9	48.62(n) 41.08(a)		174167 NM_063068.3 NP_495469.1

ENSEMBL Gene Tree for SLC12A8 (if available)
TreeFam Gene Tree for SLC12A8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SLC12A8 gene

SLC12A7² SLC12A1² SLC12A5² SLC12A4² SLC12A3² SLC12A9² SLC12A6² SLC12A2²

5 SIMAP similar genes for SLC12A8 using alignment to 6 protein entries: S12A8_HUMAN (see all proteins):

SLC12A1 SLC12A9 SLC12A6 SLC12A3 SLC12A4

SLC12A8 for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs150045563^1,2	C	--	122192486(+)	`GTTAT-/TTGTTTAG`	1	--	int¹		0	--	--	--	--
rs111714509^1,2	C	--	124800996(+)	`TGCCCA/GCCATC`	2	--	ds500¹		2		WA CSA	3
rs193266827^1,2		--	124801068(+)	`GTCTCA/GAACTC`	2	--	ds500¹		0	--	--	--	--
rs185435193^1,2		--	124801095(+)	`CACCCA/GTCTCA`	2	--	ds500¹		0	--	--	--	--
rs144675455^1,2		--	124801128(+)	`CCGGCA/GTGAAC`	2	--	ds500¹		0	--	--	--	--
rs189370461^1,2		--	124801199(+)	`TGATTA/CATGAG`	2	--	ds500¹		0	--	--	--	--
rs138568389^1,2		--	124801257(+)	`CCTCCA/GTGGCT`	2	--	ds500¹		0	--	--	--	--
rs2076728^1,2	C,F	--	124801324(-)	`GGGCCG/ATGGCA`	2	--	ds500¹		7		NA CSA WA EA	366
rs116118667^1,2	F	--	124801425(+)	`AGCTGC/TGAAGG`	2	--	ds500¹		1		WA	118
rs181740548^1,2		--	124801488(+)	`GGCAAC/TTCATG`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SLC12A8 (124801480 - 124998021 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for SLC12A8
5 CNVs: 59088 23661 36049 47990 98433
2 Indels: 40561 46284

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC12A8 for disorders About GeneDecksing

OMIM gene information: 611316 OMIM disorders: --

UniProtKB/Swiss-Prot: S12A8_HUMAN, A0AV02

Note=SLC12A8 has been identified as a possible susceptibility gene for psoriasis mapped to chromosome 3q21

(PSORS5)

1 disease for SLC12A8: About MalaCards

psoriasis

1 disease from the University of Copenhagen DISEASES database for SLC12A8:

Gitelman syndrome

Genetic Association Database (GAD): SLC12A8
Human Genome Epidemiology (HuGE) Navigator: SLC12A8 (2 documents)

Export disorders for SLC12A8 gene to outside databases

(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

PubMed articles for SLC12A8 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with SLC12A8)

Utopia: connect your pdf to the dynamic
world of online information

Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map. (PubMed id 11863360)^{1, 2, 3, 9} Hewett D.... Purvis I. (2002)
Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris. (PubMed id 16297188)^{1, 2, 4} Hueffmeier U.... Reis A. (2005)
Molecular characterization of a human cation-Cl- cotr ansporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport. (PubMed id 19472210)^{1, 9} Daigle N.D....Isenring P. (2009)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)² Muzny D.M....Gibbs R.A. (2006)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
Molecular physiology of cation-coupled Cl- cotransport: the SLC12 family. (PubMed id 12739168)¹ Hebert S.C....Gamba G. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 84561	HGNC: 15595	AceView: ZNF148andSLC12A8	Ensembl:ENSG00000221955	euGenes: HUgn84561
ECgene: SLC12A8	H-InvDB: SLC12A8

(According to HUGE)
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(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 SLC12A8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC12A8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SLC12A8 gene:
Search GeneIP for patents involving SLC12A8

GeneCards and IP:
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(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
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