SLC12A4 - solute carrier family 12 member 4 Gene

Homo sapiens

Also known as KCC1; hKCC1; CTC-479C5.17

Gene ID: 6560 | Gene type: protein coding

About SLC12A4

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,943,474-67,968,694 (from NCBI)

This gene has 19 transcripts (splice variants), 216 orthologues and 8 paralogues. Ubiquitous expression in lung (RPKM 18.3), placenta (RPKM 18.1) and 25 other tissues.

Summary

This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

SLC12A4 Products(5)

mRNA	Protein	Name
NM_001145961.2	NP_001139433.1	solute carrier family 12 member 4 isoform b
NM_001145962.1	NP_001139434.1	solute carrier family 12 member 4 isoform c
NM_001145963.2	NP_001139435.1	solute carrier family 12 member 4 isoform d
NM_001145964.2	NP_001139436.1	solute carrier family 12 member 4 isoform e
NM_005072.5	NP_005063.1	solute carrier family 12 member 4 isoform a

SLC12A4 Protein Structure

AA_permease

SLC12

0
200
400
600
800
1000
1085 a.a.

Protein Preferred Names

Protein Names

solute carrier family 12 member 4

electroneutral potassium-chloride cotransporter 1

Related Diseases

Diseases

Alias

Lecithin:Cholesterol Acyltransferase Deficiency

Norum Disease	Lcat Deficiency
Familial Lcat Deficiency	Fld
Lecithin Acyltransferase Deficiency	Complete Lcat Deficiency
Lecithin Cholesterol Acyltransferase Deficiency	Lecithin-Cholesterol Acyltransferase Deficiency
Familial Lecithin-Cholesterol Acyltransferase Deficiency	Norum'S Disease
LCATD	Deficiency, Lecithin:Cholesterol Acyltransferase

Fish-Eye Disease

FED	Dyslipoproteinemic Corneal Dystrophy
Alpha-Lcat Deficiency	Lcata Deficiency
Partial Lcat Deficiency	Alpha-Lecithin:Cholesterol Acyltransferase Deficiency
Alpha-Lecithin Cholesterol Acyltransferase Deficiency	Disease, Fish-Eye
Lecithin Acyltransferase Deficiency

Sickle Cell Disease

Hbs Disease	Hemoglobin S Disease
Scd	Sickle Cell Disorders
Sickling Disorder Due To Hemoglobin S	Anemia, Sickle Cell
Hb-Ss Disease Without Crisis	Hbss Without Crisis
Sickle-Cell Anaemia Without Crisis	Scd - [Sickle Cell Disease]
Sca - [Sickle Cell Anaemia]	Sickle Cell Disease Nos
Sickle Cell Disorder	Sickle Cell Syndrome
Sickle-Cell Anaemia Nos	Sickle-Cell Disorder Nos
Haemoglobin S Disease	Haemoglobin Ss Disease
Hb S Disease	Hb Ss Disease
Herrick Anaemia	Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S
Sickle-Cell Haemoglobin Disease	Sickling Disorder Due To Haemoglobin S
Hb-Ss Disease With Crisis	Sickle Cell Crisis
Sickle-Cell Disorder With Crisis	Sickle-Cell Anaemia With Crisis
Hbss With Crisis	Hb S Disease With Mention Of Crisis
Haemoglobin Ss Disease With Crisis	Hb-Ss Disease With Vaso-Occlusive Pain
Vaso-Occlusive Crisis

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

Hypomagnesemia 4, Renal

Renal Hypomagnesemia 4	HOMG4
Hypomagnesemia, Renal, Normocalciuric	Hypomagnesemia 4
Renal Hypomagnesemia Normocalciuric	Hypomagnesemia, Type 4, Renal

Hemoglobin C Disease

Hb C Disease	Hemoglobin C
Hb-C Disease

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

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

Sickle Cell Anemia

Hemoglobin Sc Disease	Anemia, Sickle Cell
Hbsc Disease	Sickle Cell-Hemoglobin C Disease Syndrome
Hb Ss Disease	Sickle Cell Trait
Drepanocytosis	Haemoglobin Sc Disease
Hb Sc Disease	Hb-S/Hb-C Disease
Hb-Ss Disease Without Crisis	Hemoglobin S Disease Without Crisis
Sickle Cell Anaemia	Sickle-Cell/Hb-C Disease Without Crisis
Sickle Cell - Hemoglobin C Disease	Hbs Disease
Hemoglobin S Disease	Sickling Disorder Due To Hemoglobin S
SKCA	Sickle Cell Disease
Sickle Cell-Hemoglobin C Disease	Sickle-Cell Disease Carrier
Sickle-Cell Heterozygous Disorder	Haemoglobin A-S Genotype
Hb-S - [Sickle Cell Haemoglobin] Carrier	Sickle Cell Haemoglobin Trait
As - [Sickle Cell Trait]	Hbas - [Sickle Cell Haemoglobin Trait]
Sickle-Cell Trait Haemoglobin Disease	Haemoglobin Sickle Cell Trait Disorder
Heterozygous Sickle Cell Trait	Hbas - [Heterozygous Haemoglobin S]

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-RS12999	SLC12A4 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC12A4	RGD	RGD:3687
Canis familiaris	SLC12A4	VGNC	VGNC:46221
Macaca mulatta	SLC12A4	VGNC	VGNC:77388
Bos taurus	SLC12A4	VGNC	VGNC:34667
Felis catus	SLC12A4	VGNC	VGNC:65190
Mus musculus	SLC12A4	MGD	MGI:1309465

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