SLC12A6 - solute carrier family 12 member 6 Gene

Homo sapiens

Also known as KCC3; ACCPN; KCC3A; KCC3B; CMT2II

Gene ID: 9990 | Gene type: protein coding

About SLC12A6

Cytogenetic location: 15q14 Genomic coordinates (GRCh38): 15:34,229,784-34,338,057 (from NCBI)

This gene has 21 transcripts (splice variants), 188 orthologues, 8 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 15.1), bone marrow (RPKM 10.0) and 24 other tissues.

Summary

This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]

SLC12A6 Products(7)

mRNA	Protein	Name
NM_001042494.2	NP_001035959.1	solute carrier family 12 member 6 isoform c
NM_001042495.2	NP_001035960.1	solute carrier family 12 member 6 isoform c
NM_001042496.2	NP_001035961.1	solute carrier family 12 member 6 isoform d
NM_001042497.2	NP_001035962.1	solute carrier family 12 member 6 isoform e
NM_001365088.1	NP_001352017.1	solute carrier family 12 member 6 isoform a
NM_005135.2	NP_005126.1	solute carrier family 12 member 6 isoform b
NM_133647.2	NP_598408.1	solute carrier family 12 member 6 isoform a

SLC12A6 Protein Structure

AA_permease

SLC12

0
200
400
600
800
1000
1150 a.a.

Protein Preferred Names

Protein Names

solute carrier family 12 member 6

K-Cl cotransporter 3

Related Diseases

Diseases

Alias

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

Charcot-Marie-Tooth Disease, Axonal, Type 2ii

CMT2II

Charcot-Marie-Tooth Neuropathy, Type 2ii

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Hereditary Motor And Sensory Neuropathy With Agenesis Of The Corpus Callosum

Agenesis Of Corpus Callosum With Peripheral Neuropathy	Accpn
Andermann Syndrome

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Motor Peripheral Neuropathy

Motor Neuritis	Peripheral Motor Neuropathy
Hereditary Motor And Sensory Neuropathy	Hsmn
Hsmn - Hereditary Sensory And Motor Neuropathy	Neuropathic Muscular Atrophy
Hereditary Sensory And Motor Neuropathy	Hereditary Motor And Sensory Neuropathies

Hypertelorism

Eyes Wide Apart	Eyes Widely Set
Hypertelorism Of Orbit	Ocular Hypertelorism
Orbital Separation Excessive

Sensory Peripheral Neuropathy

Sensory Neuropathy	Peripheral Sensory Neuropathy
Hereditary Sensory And Autonomic Neuropathies

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]

Ataxia-Oculomotor Apraxia 3

Ataxia With Oculomotor Apraxia Type 3	AOA3
Aaxia-Oculomotor Apraxia-3	Ataxia-Oculomotor Apraxia, Type 3

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

Brown-Vialetto-Van Laere Syndrome 1

BVVLS1	Pontobulbar Palsy With Deafness
Bulbar Palsy, Progressive, With Sensorineural Deafness	Rfvt2-Related Riboflavin Transporter Deficiency
Rtd2	Riboflavin Transporter Deficiency 2
Bulbar Palsy Progressive With Sensorineural Deafness	Riboflavin Transporter Deficiency Type 2
Brown-Vialetto-Van Laere Syndrome, Type 1	Brown-Vialetto-Van Laere Syndrome

Tuberculous Empyema

Empyema, Tuberculous

Empyema Tuberculous

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

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

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal 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

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-RS13001	SLC12A6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC12A6	RGD	RGD:1311335
Felis catus	SLC12A6	VGNC	VGNC:65192
Macaca mulatta	SLC12A6	VGNC	VGNC:77389
Bos taurus	SLC12A6	VGNC	VGNC:34669
Canis familiaris	SLC12A6	VGNC	VGNC:46223
Mus musculus	SLC12A6	MGD	MGI:2135960

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