SLC12A5 - solute carrier family 12 member 5 Gene

Homo sapiens

Also known as KCC2; DEE34; EIG14; hKCC2; EIEE34

Gene ID: 57468 | Gene type: protein coding

About SLC12A5

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:46,021,686-46,060,150 (from NCBI)

This gene has 24 transcripts (splice variants), 138 orthologues, 8 paralogues and is associated with 4 phenotypes. Restricted expression toward brain (RPKM 26.0).

Summary

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]

SLC12A5 Products(2)

mRNA	Protein	Name
NM_001134771.2	NP_001128243.1	solute carrier family 12 member 5 isoform 1
NM_020708.5	NP_065759.1	solute carrier family 12 member 5 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables chloride transmembrane transporter activity	IDA IDA: Inferred from direct assay	26333769	GOA
enables potassium:chloride symporter activity	IDA IDA: Inferred from direct assay	12106695	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	24393035	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in dendritic spine development	IDA IDA: Inferred from direct assay	24668262	GOA
involved in hypotonic response	IDA IDA: Inferred from direct assay	12106695	GOA
involved in intracellular chloride ion homeostasis	IDA IDA: Inferred from direct assay	26333769	GOA
involved in monoatomic ion transport	IDA IDA: Inferred from direct assay	12106695	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell periphery	IDA IDA: Inferred from direct assay	16227993	GOA
located in membrane	IDA IDA: Inferred from direct assay	12106695	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

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

SLC12A5 Protein Structure

AA_permease

0
200
400
600
800
1000
1139 a.a.

Protein Preferred Names

Protein Names

solute carrier family 12 member 5

K-Cl cotransporter 2

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 34

DEE34	Epileptic Encephalopathy, Early Infantile, 34
Eiee34	Developmental And Epileptic Encephalopathy, 34
Early Infantile Epileptic Encephalopathy 34

Epilepsy, Idiopathic Generalized 14

EIG14	Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Idiopathic Generalized Epilepsy 14	{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}

Developmental And Epileptic Encephalopathy 14

Malignant Migrating Partial Seizures Of Infancy	Eiee14
Epilepsy Of Infancy With Migrating Focal Seizures	Mmpsi
DEE14	Epileptic Encephalopathy, Early Infantile, 14
Early Infantile Epileptic Encephalopathy 14	Malignant Migrating Partial Epilepsy Of Infancy
Migrating Partial Epilepsy Of Infancy	Migrating Partial Seizures Of Infancy
Mmpei	Mpei
Mpsi	Malignant Migrating Focal Seizures Of Infancy
Migrating Partial Seizures In Infancy	Developmental And Epileptic Encephalopathy, 14
Encephalopathy, Epileptic, Early Infantile, Type 14

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

Prieto Syndrome

Prieto-Badia-Mulas Syndrome	X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
PRS	Mrxs2
Prieto X-Linked Mental Retardation Syndrome	Mental Retardation, X-Linked, Syndromic 2
Mental Retardation, X-Linked, With Dysmorphism And Cerebral Atrophy	Intellectual Disability, X-Linked, Syndromic 2

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

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

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

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

Temporal Lobe Neoplasm

Neoplasm Of Temporal Lobe	Malignant Neoplasm Of Temporal Lobe
Tumor Of Temporal Lobe

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Reflex Epilepsy

Epilepsy, Reflex	Epilepsy, Sensory-Induced
Epilepsy Reflex

Focal Epilepsy

Partial Epilepsy	Epilepsies, Partial
Localisation-Related Epilepsy

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

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

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]

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	Dee6
Developmental And Epileptic Encephalopathy 6	Early Infantile Epileptic Encephalopathy 6
Myoclonic Epilepsy, Severe, Of Infancy	Sme
Severe Myoclonus Epilepsy Of Infancy	Borderline Smei
Smeb	Smeb-M
Smeb-O	Smeb-Sw
Smei-Borderland	Smei-Borderland More Than One Feature
Smei-Borderland-Myoclonic Seizures	Smei-Borderland-Spike Wave
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures	ICEGTC
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

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

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-160082	KCC2 Modulator-2	Modulator	/	Unkown
HY-RS13000	SLC12A5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC12A5	VGNC	VGNC:46222
Felis catus	SLC12A5	VGNC	VGNC:65191
Rattus norvegicus	SLC12A5	RGD	RGD:620811
Macaca mulatta	SLC12A5	VGNC	VGNC:77471
Bos taurus	SLC12A5	VGNC	VGNC:34668
Mus musculus	SLC12A5	MGD	MGI:1862037

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