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Aliases for SLC12A4 Gene

Aliases for SLC12A4 Gene

  • Solute Carrier Family 12 Member 4 2 3
  • Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 4 2 3 5
  • Electroneutral Potassium-Chloride Cotransporter 1 3 4
  • Erythroid K-Cl Cotransporter 1 3 4
  • HKCC1 3 4
  • KCC1 3 4
  • Solute Carrier Family 12 (Potassium/Chloride Transporters), Member 4 3
  • Potassium/Chloride Cotransporter 1 3
  • CTC-479C5.17 3

External Ids for SLC12A4 Gene

Previous GeneCards Identifiers for SLC12A4 Gene

  • GC16M058673
  • GC16M068355
  • GC16M067713
  • GC16M067754
  • GC16M066535
  • GC16M067979
  • GC16M053850

Summaries for SLC12A4 Gene

Entrez Gene Summary for SLC12A4 Gene

  • This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

GeneCards Summary for SLC12A4 Gene

SLC12A4 (Solute Carrier Family 12 Member 4) is a Protein Coding gene. Diseases associated with SLC12A4 include chronic cervicitis and corneal dystrophy, schnyder type. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include protein kinase binding and cation:chloride symporter activity. An important paralog of this gene is SLC12A2.

UniProtKB/Swiss-Prot for SLC12A4 Gene

  • Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity.

Gene Wiki entry for SLC12A4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A4 Gene

Genomics for SLC12A4 Gene

Regulatory Elements for SLC12A4 Gene

Promoters for SLC12A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC12A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC12A4 Gene

Chromosome:
16
Start:
67,943,474 bp from pter
End:
67,969,601 bp from pter
Size:
26,128 bases
Orientation:
Minus strand

Genomic View for SLC12A4 Gene

Genes around SLC12A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC12A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC12A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC12A4 Gene

Proteins for SLC12A4 Gene

  • Protein details for SLC12A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UP95-S12A4_HUMAN
    Recommended name:
    Solute carrier family 12 member 4
    Protein Accession:
    Q9UP95
    Secondary Accessions:
    • B4DF69
    • B4DR04
    • B4DZ82
    • B7ZAV0
    • F5H066
    • F5H0S9
    • F5H3C0
    • O60632
    • O75893
    • Q13953
    • Q96LD5

    Protein attributes for SLC12A4 Gene

    Size:
    1085 amino acids
    Molecular mass:
    120650 Da
    Quaternary structure:
    • Homomultimer and heteromultimer with other K-Cl cotransporters.
    SequenceCaution:
    • Sequence=AAC35282.1; Type=Frameshift; Positions=454; Evidence={ECO:0000305}; Sequence=BAG57330.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC12A4 Gene

neXtProt entry for SLC12A4 Gene

Proteomics data for SLC12A4 Gene at MOPED

Post-translational modifications for SLC12A4 Gene

Antibody Products

No data available for DME Specific Peptides for SLC12A4 Gene

Domains & Families for SLC12A4 Gene

Gene Families for SLC12A4 Gene

Suggested Antigen Peptide Sequences for SLC12A4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UP95

UniProtKB/Swiss-Prot:

S12A4_HUMAN :
  • Belongs to the SLC12A transporter family.
Family:
  • Belongs to the SLC12A transporter family.
genes like me logo Genes that share domains with SLC12A4: view

Function for SLC12A4 Gene

Molecular function for SLC12A4 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by WNK3.
UniProtKB/Swiss-Prot Function:
Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity.
genes like me logo Genes that share phenotypes with SLC12A4: view

Animal Model Products

CRISPR Products

miRNA for SLC12A4 Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC12A4 Gene

Localization for SLC12A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC12A4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC12A4 Gene COMPARTMENTS Subcellular localization image for SLC12A4 gene
Compartment Confidence
lysosome 5
plasma membrane 5
vacuole 5
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC12A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0016020 membrane IEA,TAS 8663127
genes like me logo Genes that share ontologies with SLC12A4: view

Pathways & Interactions for SLC12A4 Gene

genes like me logo Genes that share pathways with SLC12A4: view

Interacting Proteins for SLC12A4 Gene

Gene Ontology (GO) - Biological Process for SLC12A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA,TAS --
GO:0006821 chloride transport TAS 8663127
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC12A4: view

No data available for SIGNOR curated interactions for SLC12A4 Gene

Drugs & Compounds for SLC12A4 Gene

(7) Drugs for SLC12A4 Gene - From: Novoseek, DrugBank, IUPHAR, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bumetanide Approved Pharma Agonist, blocker, Target, inhibitor NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 15
Potassium Chloride Approved, Withdrawn Pharma Target, Transporter, substrate 0
DIOA Pharma Inhibition, Inhibitor 0

(1) Additional Compounds for SLC12A4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with SLC12A4: view

Transcripts for SLC12A4 Gene

Unigene Clusters for SLC12A4 Gene

Solute carrier family 12 (potassium/chloride transporters), member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^
SP1:
SP2: -
SP3: -
SP4: - - - -
SP5: -
SP6:
SP7: - - - - - - - - - - - - - -
SP8: -
SP9: -
SP10:
SP11:
SP12: - - - - - - - - - - - - -
SP13:
SP14:
SP15:
SP16:

ExUns: 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c · 14d ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b
SP1: - -
SP2: -
SP3: -
SP4:
SP5:
SP6: - - - - - -
SP7:
SP8:
SP9: -
SP10:
SP11: - -
SP12:
SP13:
SP14:
SP15: - - - -
SP16:

Relevant External Links for SLC12A4 Gene

GeneLoc Exon Structure for
SLC12A4
ECgene alternative splicing isoforms for
SLC12A4

Expression for SLC12A4 Gene

mRNA expression in normal human tissues for SLC12A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC12A4 Gene

This gene is overexpressed in Placenta (28.8), Adrenal (8.1), Pancreas (7.0), and Prostate (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC12A4 Gene



SOURCE GeneReport for Unigene cluster for SLC12A4 Gene Hs.10094

mRNA Expression by UniProt/SwissProt for SLC12A4 Gene

Q9UP95-S12A4_HUMAN
Tissue specificity: Ubiquitous. Levels are much higher in erythrocytes from patients with Hb SC and Hb SS compared to normal AA erythrocytes. This may contribute to red blood cell dehydration and to the manifestation of sickle cell disease by increasing the intracellular concentration of HbS. Isoform 1 was not detected in circulating reticulocytes.
genes like me logo Genes that share expression patterns with SLC12A4: view

Protein tissue co-expression partners for SLC12A4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SLC12A4 Gene

Orthologs for SLC12A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC12A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC12A4 36
  • 94 (a)
OneToOne
SLC12A4 35
  • 97.41 (n)
  • 97.18 (a)
cow
(Bos Taurus)
Mammalia SLC12A4 35
  • 91.06 (n)
  • 96.87 (a)
SLC12A4 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC12A4 36
  • 92 (a)
OneToOne
SLC12A4 35
  • 91.37 (n)
  • 96.96 (a)
mouse
(Mus musculus)
Mammalia Slc12a4 16
Slc12a4 36
  • 91 (a)
OneToOne
Slc12a4 35
  • 89.16 (n)
  • 96.22 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC12A4 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A4 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc12a4 35
  • 89 (n)
  • 96.5 (a)
chicken
(Gallus gallus)
Aves SLC12A4 35
  • 73.36 (n)
  • 85.35 (a)
SLC12A4 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC12A4 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493471 35
  • 71.32 (n)
  • 82.62 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1702 35
zebrafish
(Danio rerio)
Actinopterygii slc12a4 36
  • 78 (a)
OneToOne
Dr.20057 35
slc12a4 35
  • 72.6 (n)
  • 82.03 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011498 35
  • 63.96 (n)
  • 61.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta kcc 35
  • 59.49 (n)
  • 58.06 (a)
kcc 36
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea kcc-2 35
  • 52.78 (n)
  • 51.26 (a)
kcc-2 36
  • 45 (a)
OneToMany
H16O14.1 37
  • 48 (a)
K02A2.3 37
  • 38 (a)
R13A1.2 37
  • 43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2084 36
  • 55 (a)
OneToMany
Species with no ortholog for SLC12A4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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 SLC12A4 Gene

ENSEMBL:
Gene Tree for SLC12A4 (if available)
TreeFam:
Gene Tree for SLC12A4 (if available)

Paralogs for SLC12A4 Gene

Paralogs for SLC12A4 Gene

genes like me logo Genes that share paralogs with SLC12A4: view

Variants for SLC12A4 Gene

Sequence variations from dbSNP and Humsavar for SLC12A4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs255057 -- 67,952,809(+) aTAGG(C/T)CAgcg intron-variant
rs1110536 -- 67,964,815(+) CATCC(C/T)CCTGT intron-variant, upstream-variant-2KB
rs3785098 -- 67,959,740(+) CAGGG(C/T)GGGCC intron-variant
rs3785099 -- 67,960,834(+) GTGAC(C/T)AAAAA intron-variant
rs3785100 -- 67,964,017(+) CACCT(C/T)CGGCT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC12A4 Gene

Variant ID Type Subtype PubMed ID
nsv524363 CNV Loss 19592680
nsv522852 CNV Gain 19592680
nsv906815 CNV Loss 21882294
nsv906816 CNV Loss 21882294

Variation tolerance for SLC12A4 Gene

Residual Variation Intolerance Score: 3.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.19; 61.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC12A4 Gene

HapMap Linkage Disequilibrium report
SLC12A4
Human Gene Mutation Database (HGMD)
SLC12A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A4 Gene

Disorders for SLC12A4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC12A4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chronic cervicitis
corneal dystrophy, schnyder type
  • schnyder corneal dystrophy
cervix disease
  • uterine cervical diseases
cervicitis
  • uterine cervicitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC12A4

Genetic Association Database (GAD)
SLC12A4
Human Genome Epidemiology (HuGE) Navigator
SLC12A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC12A4
genes like me logo Genes that share disorders with SLC12A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC12A4 Gene

Publications for SLC12A4 Gene

  1. Molecular cloning and functional expression of the K-Cl cotransporter from rabbit, rat, and human. A new member of the cation-chloride cotransporter family. (PMID: 8663127) Gillen C.M. … Forbush B. III (J. Biol. Chem. 1996) 2 3 4 23 67
  2. The up-regulation of KCC1 gene expression in cervical cancer cells by IGF-II through the ERK1/2MAPK and PI3K/AKT pathways and its significance. (PMID: 19317253) Zhang S. … Sun X. (Eur. J. Gynaecol. Oncol. 2009) 3 23
  3. Functional and molecular characterization of multiple K-Cl cotransporter isoforms in corneal epithelial cells. (PMID: 17418819) CapA^-Aponte J.E. … Reinach P.S. (Exp. Eye Res. 2007) 23 25
  4. KCC isoforms in a human lens epithelial cell line (B3) and lens tissue extracts. (PMID: 16949074) Misri S. … Lauf P.K. (Exp. Eye Res. 2006) 23 25
  5. The role of potassium chloride cotransporters in murine and human sperm volume regulation. (PMID: 16943364) Klein T. … Yeung C.H. (Biol. Reprod. 2006) 3 25

Products for SLC12A4 Gene

Sources for SLC12A4 Gene

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