SLC12A2 - solute carrier family 12 member 2 Gene

Also Known as BSC; BSC2; CCC1; BSC-2; KILQS; NKCC1; PPP1R141

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6558

About SLC12A2

Cytogenetic location: 5q23.3 Genomic coordinates (GRCh38): 5:128,083,766-128,189,677 (from NCBI)

This gene has 8 transcripts (splice variants), 283 orthologues, 8 paralogues and is associated with 5 phenotypes. Broad expression in colon (RPKM 25.6), stomach (RPKM 18.8) and 22 other tissues.

Summary

The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

SLC12A2 Products (2)

mRNA	Protein	Name
NM_001046.3	NP_001037.1	solute carrier family 12 member 2 isoform 1
NM_001256461.2	NP_001243390.1	solute carrier family 12 member 2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables Hsp90 protein binding	IPI IPI: Inferred from physical interaction	15347682	GOA
enables ammonium channel activity	IDA IDA: Inferred from direct assay	12946942	GOA
enables chloride:monoatomic cation symporter activity	IDA IDA: Inferred from direct assay	7629105	GOA
enables metal ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	7629105	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17721439	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	12740379	GOA
enables protein-folding chaperone binding	IPI IPI: Inferred from physical interaction	15347682	GOA
enables sodium:potassium:chloride symporter activity	IDA IDA: Inferred from direct assay	33597714	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in T cell chemotaxis	IMP IMP: Inferred from mutant phenotype	27400149	GOA
involved in ammonium transmembrane transport	IDA IDA: Inferred from direct assay	12946942	GOA
involved in cellular response to chemokine	IMP IMP: Inferred from mutant phenotype	27400149	GOA
involved in inorganic cation import across plasma membrane	IDA IDA: Inferred from direct assay	7629105	GOA
involved in transepithelial ammonium transport	IDA IDA: Inferred from direct assay	18032481	GOA
involved in transepithelial chloride transport	IDA IDA: Inferred from direct assay	12946942	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	17478539	GOA
located in basal plasma membrane	IDA IDA: Inferred from direct assay	17478539	GOA
located in cell periphery	IDA IDA: Inferred from direct assay	16227993	GOA
located in cytoplasmic vesicle membrane	IDA IDA: Inferred from direct assay	17478539	GOA
located in lateral plasma membrane	IDA IDA: Inferred from direct assay	17478539	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	16227993	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	16227993	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	7629105	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC12A2 Protein Structure

AA_permease_N

AA_permease

0
200
400
600
800
1000
1212 a.a.

Protein Preferred Names	Protein Names
solute carrier family 12 member 2	basolateral Na-K-Cl symporter

SLC12A2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC12A2	P55011	EZR	Homo sapiens	P15311	Anti Bait CoIP	24555568
Intra	SLC12A2	P55011	EZR	Homo sapiens	P15311	Anti Bait CoIP	22570591
Intra	SLC12A2	P55011	OXSR1	Homo sapiens	O95747	Pull Down	17721439

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Delpire-Mcneill Syndrome	DELMNES
Deafness, Autosomal Dominant 78	DFNA78 Deafness, Autosomal Dominant, 78 Deafness, Autosomal Dominant, Type 78
Kilquist Syndrome	KILQS
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Autosomal Recessive Non-Syndromic Intellectual Disability	Ar-Nsid Ns-Arid
Non-Specific Syndromic Intellectual Disability	Complex Neurodevelopmental Disorder
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome
Autosomal Dominant Nonsyndromic Deafness 78	Dfna78
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Andermann Syndrome Charlevoix Disease ACCPN Polyneuropathy, Sensorimotor, With Or Without Agenesis Of The Corpus Callosum Corpus Callosum, Agenesis Of, With Neuronopathy Corpus Callosum Agenesis-Neuronopathy Syndrome Agenesis Of Corpus Callosum With Neuronopathy Agenesis Of Corpus Callosum With Peripheral Neuropathy Agenesis Of Corpus Callosum With Polyneuropathy Corpus Callosum Agenesis Neuronopathy Hmsn/Acc Hereditary Motor And Sensory Neuropathy With Agenesis Of The Corpus Callosum Agenesis Of The Corpus Callosum, With Peripheral Neuropathy Andermann'S Syndrome Agenesis, Corpus Callosum, With Peripheral Neuropathy
Deafness, Autosomal Recessive 100	DFNB100 Autosomal Recessive Nonsyndromic Deafness 100 Autosomal Recessive Deafness 100 Deafness, Autosomal Recessive, 100
Autosomal Recessive Nonsyndromic Deafness 70	Deafness, Autosomal Recessive 70 Autosomal Recessive Deafness 70 Dfnb70 Deafness, Autosomal Recessive, Type 70
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Motility-Related Diarrhea
Ischemia	Acute Coronary Syndrome
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hereditary Sensory And Autonomic Neuropathy Type 2 Hsan2 HSAN2A Morvan Disease Hereditary Sensory And Autonomic Neuropathy Type Ii Neurogenic Acroosteolysis Hsan Iia Hsn2a Hsn Iia Neuropathy, Progressive Sensory, Of Children Neuropathy, Congenital Sensory Neuropathy, Hereditary Sensory And Autonomic, Type Ii Hereditary Sensory And Autonomic Neuropathy Type 2a Hereditary Sensory And Autonomic Neuropathy Type Iia Hsanii Congenital Sensory Neuropathy Hsan Type Ii Morvan Syndrome Neuropathy, Hereditary Sensory And Autonomic, Type 2a Morvan'S Disease Neuropathy, Hereditary Sensory, Type Iia Acroosteolysis, Neurogenic Acroosteolysis, Giaccai Type Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive Hereditary Sensory Autonomic Neuropathy Type 2 Giaccai Type Acroosteolysis Hereditary Sensory Neuropathy Type 2 Hereditary Sensory Radicular Neuropathy, Recessive Form Hsan2b Hsan2c Hsan2d Hsn Type Ii Autosomal Recessive Sensory Radicular Neuropathy Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome Morvan Fibrillary Chorea Neuropathy, Hereditary Sensory And Autonomic, 2a Acroosteolysis Giaccai Type Hereditary Sensory Neuropathy Type Iia Hereditary Sensory Radicular Neuropathy Autosomal Recessive Progressive Sensory Neuropathy Of Children Neuropathy Congenital Sensory Charcot-Marie-Tooth Disease Neuropathy, Sensory And Autonomic, Hereditary, Type Iia Hereditary Sensory Autonomic Neuropathy, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii Sensory Neuropathy, Hereditary Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Developmental And Epileptic Encephalopathy 34	DEE34 Epileptic Encephalopathy, Early Infantile, 34 Eiee34 Developmental And Epileptic Encephalopathy, 34 Early Infantile Epileptic Encephalopathy 34
Temporal Lobe Neoplasm	Neoplasm Of Temporal Lobe Malignant Neoplasm Of Temporal Lobe Tumor Of Temporal Lobe
Baylisascariasis	Infection By Baylisascaris
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Gitelman Syndrome	Familial Hypokalemia-Hypomagnesemia Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria Potassium And Magnesium Depletion GTLMNS Gitelman'S Syndrome Gs Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria Bartter Syndrome Gitelman Variant Bartter Syndrome Hypocalciuric Variant Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Premature Ovarian Failure 18	POF18 Primary Ovarian Insufficiency 18 Ovarian Failure, Premature, Type 18
Gastroesophageal Reflux	Gastroesophageal Reflux Disease Gerd GER Gastroesophageal Reflux, Pediatric Acid Reflux Gastresophageal Reflux Gastro-Esophageal Reflux Gerd - Gastro-Esophageal Reflux Disease
Secretory Diarrhea
Pseudohypoaldosteronism
Asphyxia Neonatorum	Birth Asphyxia Postnatal Asphyxia Asphyxia - Birth Asphyxia, In Liveborn Infant Hypoxia Neonatorum Hypoxia, In Liveborn Infant Intrapartum Asphyxia Neonatal Asphyxia Newborn Asphyxia Asphyxia In Liveborn Infant Asphyxia Of Newborn Nos Perinatal Asphyxia Perinatal Hypoxia Newborn Asphyxiation
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Focal Epilepsy	Partial Epilepsy Epilepsies, Partial Localisation-Related Epilepsy
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12997	SLC12A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC12A2	VGNC	VGNC:77386
Bos taurus	SLC12A2	VGNC	VGNC:34665
Rattus norvegicus	SLC12A2	RGD	RGD:620809
Felis catus	SLC12A2	VGNC	VGNC:102319
Mus musculus	SLC12A2	MGD	MGI:101924
Canis familiaris	SLC12A2	VGNC	VGNC:46219
Others	SLC12A2	NCBI