SLC12A5 (solute carrier family 12 member 5)

2012-06-01  

Identity

HGNC
SLC12A5
LOCATION
20q13.12
LOCUSID
57468
ALIAS
DEE34,EIEE34,EIG14,KCC2,hKCC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57468
MIM: 606726
HGNC: 13818
Ensembl: ENSG00000124140

Variants:

dbSNP: 57468
ClinVar: 57468
TCGA: ENSG00000124140
COSMIC: SLC12A5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124140ENST00000243964Q9H2X9
ENSG00000124140ENST00000413737A0A0D9SGA5
ENSG00000124140ENST00000454036Q9H2X9
ENSG00000124140ENST00000539566B7Z3T3
ENSG00000124140ENST00000608944V9GYL3
ENSG00000124140ENST00000616201A0A087X201
ENSG00000124140ENST00000616202M4PM71
ENSG00000124140ENST00000616933M4PNB5
ENSG00000124140ENST00000626701A0A0D9SGD0
ENSG00000124140ENST00000626937M4PNC0
ENSG00000124140ENST00000627290A0A0D9SGF9
ENSG00000124140ENST00000628272A0A0D9SF89
ENSG00000124140ENST00000637437A0A1B0GVB1

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Cation-coupled Chloride cotransportersREACTOMER-HSA-426117

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383734782024The expression system influences stability, maturation efficiency, and oligomeric properties of the potassium-chloride co-transporter KCC2.1
383734782024The expression system influences stability, maturation efficiency, and oligomeric properties of the potassium-chloride co-transporter KCC2.1
366451712023SLC12A5 promotes hepatocellular carcinoma growth and ferroptosis resistance by inducing ER stress and cystine transport changes.6
369173672023SLC12A5 as a novel potential biomarker of glioblastoma multiforme.5
366451712023SLC12A5 promotes hepatocellular carcinoma growth and ferroptosis resistance by inducing ER stress and cystine transport changes.6
369173672023SLC12A5 as a novel potential biomarker of glioblastoma multiforme.5
336354232022Right Anterior Theta Hypersynchrony as a Quantitative Measure Associated with Autistic Traits and K-Cl Cotransporter KCC2 Polymorphism.1
343625912022Up-Regulated LncRNA FEZF1-AS1 Promotes the Progression of Cervical Carcinoma Cells via MiR-367-3p/SLC12A5 Signal Axis.2
354141992022KCC2 rs2297201 Gene Polymorphism Might be a Predictive Genetic Marker of Febrile Seizures.1
356243552022NKCC1 to KCC2 mRNA Ratio in Schizophrenia and Its Psychopathology: a Case-Control Study.0
363235412022[Expression of cation chloride cotransporter (NKCC1/KCC2) in brain tissue of children with focal cortical dysplasia type Ⅱ].0
336354232022Right Anterior Theta Hypersynchrony as a Quantitative Measure Associated with Autistic Traits and K-Cl Cotransporter KCC2 Polymorphism.1
343625912022Up-Regulated LncRNA FEZF1-AS1 Promotes the Progression of Cervical Carcinoma Cells via MiR-367-3p/SLC12A5 Signal Axis.2
354141992022KCC2 rs2297201 Gene Polymorphism Might be a Predictive Genetic Marker of Febrile Seizures.1
356243552022NKCC1 to KCC2 mRNA Ratio in Schizophrenia and Its Psychopathology: a Case-Control Study.0

Citation

Dessen P

SLC12A5 (solute carrier family 12 member 5)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52751/slc12a5-(solute-carrier-family-12-member-5)