Aliases for SLC12A5 Gene
Aliases for SLC12A5 Gene
External Ids for SLC12A5 Gene
- HGNC: 13818
- Entrez Gene: 57468
- Ensembl: ENSG00000124140
- OMIM: 606726
- UniProtKB: Q9H2X9
Previous GeneCards Identifiers for SLC12A5 Gene
- GC20P044386
- GC20P045296
- GC20P045343
- GC20P044091
- GC20P044651
- GC20P041391
Summaries for SLC12A5 Gene
-
K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
GeneCards Summary for SLC12A5 Gene
SLC12A5 (Solute Carrier Family 12 Member 5) is a Protein Coding gene. Diseases associated with SLC12A5 include Epileptic Encephalopathy, Early Infantile, 34 and Epilepsy, Idiopathic Generalized 14. Among its related pathways are GABAergic synapse and 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 potassium:chloride symporter activity. An important paralog of this gene is SLC12A7.
UniProtKB/Swiss-Prot for SLC12A5 Gene
-
Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).
-
K+/Cl- cotransporter 2 (KCC2, SLC12A5) is a neuron specific membrane protein that is responsible for the maintenance of the low intracellular Cl- concentration in adult neurons and has a key role in GABAA and glycine signaling.
Additional gene information for SLC12A5 Gene
- Monarch Initiative
- Search for SLC12A5 at DataMed
- Search for SLC12A5 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A5 Gene
Genomics for SLC12A5 Gene
GeneHancer (GH) Regulatory Elements for SLC12A5 Gene
Promoters and enhancers for SLC12A5 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH20I046021 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 563 | +0.1 | 52 | 1.3 | PKNOX1 ATF1 ARID4B SIN3A ZNF2 ZNF48 GLIS2 ZNF143 ATF7 KLF13 | SLC12A5 LOC105372632 SLC12A5-AS1 CD40 PCIF1 ZNF334 NCOA5 SYS1 | |
| GH20I046029 | Promoter | 0.8 | EPDnew | 550.4 | +7.5 | 7506 | 0.1 | POLR2A EGR1 REST EZH2 | SLC12A5 NCOA5 CD40 LOC105372632 | |
| GH20I046022 | Enhancer | 0.7 | ENCODE | 550.8 | +1.1 | 1127 | 0.1 | CTCF CHD4 NFXL1 ZIC2 ZNF335 GLIS2 ZNF366 ZNF143 ZNF444 EGR2 | LOC105372632 SLC12A5 SLC12A5-AS1 | |
| GH20I046023 | Enhancer | 0.7 | ENCODE | 550.8 | +1.4 | 1387 | 0.2 | CTCF CHD4 NFXL1 RAD21 ZNF335 ZNF366 ZNF143 ZNF444 EGR2 ZNF263 | LOC105372632 SLC12A5 SLC12A5-AS1 NCOA5 | |
| GH20I046024 | Enhancer | 0.6 | ENCODE | 550.8 | +0.8 | 837 | 0.1 | NR2F1 ZNF76 SIN3A REST ZNF335 GLIS2 IKZF1 ZNF524 WT1 NR2C2 | LOC105372632 SLC12A5 SLC12A5-AS1 PLTP |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SLC12A5 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SLC12A5 gene promoter:
Regulatory Element Products
Genomic Locations for SLC12A5 Gene
Genomic Locations for SLC12A5 Gene
- chr20:46,021,690-46,060,152
- (GRCh38/hg38)
- Size:
- 38,463 bases
- Orientation:
- Plus strand
- chr20:44,650,329-44,688,789
- (GRCh37/hg19)
Genomic View for SLC12A5 Gene
Genes around SLC12A5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.12 by Ensembl
- 20q13.12 by Entrez Gene
- 20q13.12 by HGNC
SLC12A5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SLC12A5 Gene
Proteins for SLC12A5 Gene
-
Protein details for SLC12A5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H2X9-S12A5_HUMAN
- Recommended name:
- Solute carrier family 12 member 5
- Protein Accession:
- Q9H2X9
- A2RTX2
- Q5VZ41
- Q9H4Z0
- Q9ULP4
Protein attributes for SLC12A5 Gene
- Size:
- 1139 amino acids
- Molecular mass:
- 126184 Da
- Quaternary structure:
-
- Homomultimer and heteromultimer with other K-Cl cotransporters. Interacts with AP2A1 (By similarity).
- Miscellaneous:
-
- Inhibited by furosemide and bumetanide.
Protein Expression for SLC12A5 Gene
Post-translational modifications for SLC12A5 Gene
- Glycosylation at posLast=442442 and posLast=833833
Other Protein References for SLC12A5 Gene
Antibody Products
- R&D Systems Antibodies for SLC12A5 (KCC2/SLC12A5)
- Cell Signaling Technology (CST) Antibodies for SLC12A5 (KCC2)
- Novus Biologicals Antibodies for SLC12A5
-
Abcam antibodies for SLC12A5
- Invitrogen Antibodies for SLC12A5
- GeneTex SLC12A5 antibody for SLC12A5
Protein Products
-
OriGene Purified Proteins for SLC12A5
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC12A5
- Origene Custom Protein Services for SLC12A5
- antibodies-online: Search results for 8 available SLC12A5 Proteins ranked by validation data
- Compare Top SLC12A5 Proteins
-
Quality Products:
- Search GeneTex for Proteins for SLC12A5
Assay Products
- antibodies-online: Search results for 1 available SLC12A5 Elisa Kits ranked by validation data
- Compare Top SLC12A5 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SLC12A5 Gene
Domains & Families for SLC12A5 Gene
Gene Families for SLC12A5 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for SLC12A5 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC12A5 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9H2X9- Family:
-
- Belongs to the SLC12A transporter family.
Function for SLC12A5 Gene
Molecular function for SLC12A5 Gene
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by WNK3.
- UniProtKB/Swiss-Prot Function:
- Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).
Phenotypes From GWAS Catalog for SLC12A5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015108 | chloride transmembrane transporter activity | IDA | 26333769 |
| GO:0015293 | symporter activity | IEA | -- |
| GO:0015377 | cation:chloride symporter activity | IEA | -- |
| GO:0015379 | potassium:chloride symporter activity | IEA,TAS | -- |
| GO:0022820 | potassium ion symporter activity | IBA | -- |
Phenotypes for SLC12A5 Gene
- MGI mutant phenotypes for SLC12A5:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for SLC12A5:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC12A5
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC12A5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC12A5 gene
- Search ViGene Biosciences for SLC12A5
CRISPR Products
-
OriGene CRISPR knockouts for SLC12A5
- genomics-online: gRNA clones - Search results for available SLC12A5 gene related products
- Applied Biological Materials CRISPR for SLC12A5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC12A5
- GenScript: Design CRISPR guide RNA sequences for SLC12A5
miRNA for SLC12A5 Gene
- miRTarBase miRNAs that target SLC12A5
-
- hsa-mir-25-3p (MIRT296110)
- hsa-mir-32-5p (MIRT296111)
- hsa-mir-92a-3p (MIRT296112)
- hsa-mir-363-3p (MIRT296113)
- hsa-mir-367-3p (MIRT296114)
- hsa-mir-92b-3p (MIRT296116)
- hsa-mir-7703 (MIRT296117)
- hsa-mir-542-3p (MIRT491363)
- hsa-mir-6885-5p (MIRT491364)
- hsa-mir-328-5p (MIRT491365)
- hsa-mir-4697-5p (MIRT491366)
- hsa-mir-1237-5p (MIRT491367)
- hsa-mir-4488 (MIRT491368)
- hsa-mir-3178 (MIRT491369)
- hsa-mir-4479 (MIRT491370)
- hsa-mir-2277-3p (MIRT491371)
- hsa-mir-4285 (MIRT491372)
- hsa-mir-433-5p (MIRT491373)
- hsa-mir-4325 (MIRT501138)
- hsa-mir-203a-3p (MIRT501139)
- hsa-mir-6500-3p (MIRT501140)
- hsa-mir-3614-5p (MIRT501141)
- hsa-mir-548t-5p (MIRT501142)
- hsa-mir-548az-5p (MIRT501143)
- hsa-mir-548n (MIRT501144)
- hsa-mir-224-5p (MIRT501145)
- hsa-mir-4646-3p (MIRT653747)
- hsa-mir-4433b-5p (MIRT653748)
- hsa-mir-6749-3p (MIRT653749)
- hsa-mir-4433a-5p (MIRT653750)
- hsa-mir-4313 (MIRT653751)
- hsa-mir-4469 (MIRT653752)
- hsa-mir-6075 (MIRT653753)
- hsa-mir-5193 (MIRT653754)
- hsa-mir-4667-3p (MIRT653755)
- hsa-mir-6887-3p (MIRT653756)
- hsa-mir-4726-3p (MIRT653757)
- hsa-mir-6840-3p (MIRT653758)
miRNA Products
- Search ViGene Biosciences for SLC12A5
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SLC12A5
- Browse OriGene Inhibitory RNA Products For SLC12A5
- genomics-online: shRNA clones - Search results for available SLC12A5 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC12A5 gene
Clone Products
- Sino Biological Human cDNA Clone for SLC12A5
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SLC12A5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC12A5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SLC12A5
- genomics-online: cdna clones - Search results for available SLC12A5 gene related products
- orf clones - Search results for available SLC12A5 gene related products
- Applied Biological Materials Clones for SLC12A5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for SLC12A5 (KCC2/SLC12A5)
Cell Line Products
-
Horizon Cell Lines for SLC12A5
-
ViGene Biosciences adenoviral particle packaged cDNA for SLC12A5 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC12A5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC12A5 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC12A5 Gene
Localization for SLC12A5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC12A5 Gene
- Membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| cytosol | 1 |
| 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 | IDA,IEA | 12106695 |
| GO:0043025 | neuronal cell body | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC12A5 Gene
Pathways & Interactions for SLC12A5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 2 | GABAergic synapse | ||
| 3 | Neuroscience | ||
Pathways by source for SLC12A5 Gene
1 Cell Signaling Technology pathway for SLC12A5 Gene
1 KEGG pathway for SLC12A5 Gene
Interacting Proteins for SLC12A5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | TAS,IEA | -- |
| GO:0006813 | potassium ion transport | IEA | -- |
| GO:0006821 | chloride transport | IEA | -- |
| GO:0006873 | cellular ion homeostasis | IDA | 12106695 |
No data available for SIGNOR curated interactions for SLC12A5 Gene
Drugs & Compounds for SLC12A5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Bumetanide | Approved | Pharma | Agonist, Target, inhibitor, blocker | NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor | 19 | |
| Potassium Chloride | Approved, Withdrawn | Pharma | Target, Transporter, substrate | 0 | ||
| Furosemide | Approved, Vet_approved | Pharma | Agonist | GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA | 209 | |
| DIOA | Pharma | Inhibition, Inhibitor | 0 | |||
| VU0240551 | Pharma | Inhibition, Inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Chloride ion |
|
16887-00-6 |
|
(1) ApexBio Compounds for SLC12A5 Gene
| Compound | Action | Cas Number |
|---|---|---|
| VU 0240551 | KCC2 inhibitor | 893990-34-6 |
Transcripts for SLC12A5 Gene
mRNA/cDNA for SLC12A5 Gene
- (3) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (104) Selected AceView cDNA sequences:
- (25) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC12A5 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SLC12A5
- genomics-online: gRNA clones - Search results for available SLC12A5 gene related products
- Applied Biological Materials CRISPR for SLC12A5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC12A5
- GenScript: Design CRISPR guide RNA sequences for SLC12A5
miRNA Products
- Search ViGene Biosciences for SLC12A5
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SLC12A5
- Browse OriGene Inhibitory RNA Products For SLC12A5
- genomics-online: shRNA clones - Search results for available SLC12A5 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC12A5 gene
Clone Products
- Sino Biological Human cDNA Clone for SLC12A5
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SLC12A5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC12A5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SLC12A5
- genomics-online: cdna clones - Search results for available SLC12A5 gene related products
- orf clones - Search results for available SLC12A5 gene related products
- Applied Biological Materials Clones for SLC12A5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for SLC12A5 (KCC2/SLC12A5)
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: |
| ExUns: | 23a | · | 23b | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||
| SP2: | |||||||||||
| SP3: | |||||||||||
| SP4: | |||||||||||
| SP5: | |||||||||||
| SP6: |
Expression for SLC12A5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for SLC12A5 Gene
This gene is overexpressed in Brain - Cerebellum (x7.3), Brain - Cerebellar Hemisphere (x7.3), Brain - Frontal Cortex (BA9) (x6.5), Brain - Cortex (x5.3), and Brain - Anterior cingulate cortex (BA24) (x5.0).
This gene is overexpressed in Frontal cortex (39.0) and Retina (21.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC12A5 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SLC12A5 Gene:
SLC12A5SOURCE GeneReport for Unigene cluster for SLC12A5 Gene:
Hs.21413mRNA Expression by UniProt/SwissProt for SLC12A5 Gene:
Q9H2X9-S12A5_HUMAN
Tissue specificity:
Brain specific. Detected in neuronal cells.
Evidence on tissue expression from TISSUES for SLC12A5 Gene
- Nervous system(4.9)
- Eye(3.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC12A5 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
- skull
Thorax:
- chest wall
Abdomen:
- abdominal wall
Limb:
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for SLC12A5
- genomics-online: primer clones - Search results for available SLC12A5 gene related products
Orthologs for SLC12A5 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC12A5 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC12A5 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SLC12A5 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SLC12A5 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc12a5 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc12a5 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLC12A5 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC12A5 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SLC12A5 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc12a5 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | slc12a5a 34 |
|
OneToMany | |
| LOC572215 33 |
|
||||
| slc12a5b 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | kcc 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | H16O14.1 35 |
|
|
|
| R13A1.2 35 |
|
|
|||
| kcc-2 34 |
|
OneToMany | |||
| K02A2.3 35 |
|
|
|||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | CCC1 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os08g0323700 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2084 34 |
|
OneToMany |
- Species where no ortholog for SLC12A5 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- 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 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for SLC12A5 Gene
Paralogs for SLC12A5 Gene
(9) SIMAP similar genes for SLC12A5 Gene using alignment to 13 proteins:
Variants for SLC12A5 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs12481488 | benign, Early infantile epileptic encephalopathy 34 | 46,048,088(+) | T/A | intron_variant | |
| rs141933171 | likely-benign, Early infantile epileptic encephalopathy 34 | 46,054,913(+) | C/T | intron_variant | |
| rs142740233 | risk-factor, benign, Epilepsy, idiopathic generalized, susceptibility to, 14, Early infantile epileptic encephalopathy 34, Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685] | 46,056,217(+) | G/A/T | coding_sequence_variant, missense_variant | |
| rs143072268 | likely-benign, Early infantile epileptic encephalopathy 34 | 46,041,416(+) | C/T | coding_sequence_variant, synonymous_variant | |
| rs147042920 | benign, Early infantile epileptic encephalopathy 34 | 46,037,250(+) | T/C | intron_variant |
Residual Variation Intolerance Score:
2.35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.95;
49.30% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC12A5 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A5 Gene
Disorders for SLC12A5 Gene
(9) MalaCards diseases for SLC12A5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 34 |
|
|
| epilepsy, idiopathic generalized 14 |
|
|
| malignant migrating partial seizures of infancy |
|
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| agenesis of the corpus callosum with peripheral neuropathy |
|
|
| hypothalamic hamartomas |
|
|
Search SLC12A5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
S12A5_HUMAN- Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685]: An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. {ECO:0000269 PubMed:24668262, ECO:0000269 PubMed:24928908, ECO:0000269 PubMed:26528127}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
- Epileptic encephalopathy, early infantile, 34 (EIEE34) [MIM:616645]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally. {ECO:0000269 PubMed:26333769}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLC12A5
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SLC12A5 Gene
Publications for SLC12A5 Gene
- Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PMID: 18602983) Bento JL … Mychaleckyj JC (Genomics 2008) 3 22 44 58
- Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. (PMID: 26333769) Stödberg T … Kurian MA (Nature communications 2015) 3 4 58
- A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. (PMID: 24668262) Puskarjov M … Kaila K (EMBO reports 2014) 3 4 58
- Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. (PMID: 24928908) Kahle KT … Rouleau GA (EMBO reports 2014) 3 4 58
- Similar effects of all WNK3 variants on SLC12 cotransporters. (PMID: 21613606) Cruz-Rangel S … Mercado A (American journal of physiology. Cell physiology 2011) 3 4 58
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Sources for SLC12A5 Gene
- (1) GeneCards
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