SLC12A2 - solute carrier family 12 member 2 Gene

Homo sapiens

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

Gene ID: 6558 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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