SLC12A5 - solute carrier family 12 member 5 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57468

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	References	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	References	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	References	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

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 Set	/	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
Others	SLC12A5	NCBI