SLC12A4 - solute carrier family 12 member 4 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 6560

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

SLC12A4 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SLC12A4	Q9UP95	KRTAP12-2	Homo sapiens	P59991	Y2H Array	32296183
Intra	SLC12A4	Q9UP95	KRTAP12-2	Homo sapiens	P59991	Y2H Prey Pooling	32296183
Intra	SLC12A4	Q9UP95	TMEM102	Homo sapiens	Q8N9M5	Y2H Prey Pooling	32296183
Intra	SLC12A4	Q9UP95	TMEM102	Homo sapiens	Q8N9M5	Y2H Array	32296183
Intra	SLC12A4	Q9UP95	MB21D2	Homo sapiens	Q8IYB1	Y2H Array	32296183
Intra	SLC12A4	Q9UP95	MB21D2	Homo sapiens	Q8IYB1	Y2H Prey Pooling	32296183
Intra	SLC12A4	Q9UP95	KRTAP19-2	Homo sapiens	Q3LHN2	Y2H Prey Pooling	32296183
Intra	SLC12A4	Q9UP95	KRTAP19-2	Homo sapiens	Q3LHN2	Y2H Array	32296183
Intra	SLC12A4	Q9UP95	CNFN	Homo sapiens	Q9BYD5	Y2H Array	32296183
Intra	SLC12A4	Q9UP95	CNFN	Homo sapiens	Q9BYD5	Y2H Prey Pooling	32296183
Intra	SLC12A4	Q9UP95	AP3M1	Homo sapiens	Q9Y2T2	Validated Y2H	32296183
Intra	SLC12A4	Q9UP95	AP3M1	Homo sapiens	Q9Y2T2	Y2H Array	32296183
Intra	SLC12A4	Q9UP95	AP3M1	Homo sapiens	Q9Y2T2	Y2H Prey Pooling	32296183
Intra	SLC12A4	Q9UP95	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	SLC12A4	Q9UP95	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	SLC12A4	Q9UP95	ZNF655	Homo sapiens	Q8N720	Y2H Prey Pooling	32296183
Intra	SLC12A4	Q9UP95	ZNF655	Homo sapiens	Q8N720	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS12999	SLC12A4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	SLC12A4	NCBI