SLC12A7 - solute carrier family 12 member 7 Gene

Also Known as KCC4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10723

About SLC12A7

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:1,050,384-1,155,899 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 284 orthologues and 8 paralogues. Ubiquitous expression in testis (RPKM 14.3), kidney (RPKM 13.8) and 25 other tissues.

Summary

Enables protein kinase binding activity. Predicted to be involved in several processes, including cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

SLC12A7 Products (1)

mRNA	Protein	Name
NM_006598.3	NP_006589.2	solute carrier family 12 member 7

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	24393035	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	28246125	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

SLC12A7 Protein Structure

AA_permease

0
200
400
600
800
1000
1083 a.a.

Protein Preferred Names	Protein Names
solute carrier family 12 member 7	K-Cl cotransporter 4

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
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Hypomagnesemia 4, Renal	Renal Hypomagnesemia 4 HOMG4 Hypomagnesemia, Renal, Normocalciuric Hypomagnesemia 4 Renal Hypomagnesemia Normocalciuric Hypomagnesemia, Type 4, Renal
Seckel Syndrome 1	SCKL1 Nanocephalic Dwarfism Microcephalic Primordial Dwarfism I Seckel-Type Dwarfism Bird-Headed Dwarfism Sckl Seckel Syndrome, Type 1 Seckel Syndrome
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13002	SLC12A7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC12A7	VGNC	VGNC:77390
Felis catus	SLC12A7	VGNC	VGNC:65193
Canis familiaris	SLC12A7	VGNC	VGNC:46224
Rattus norvegicus	SLC12A7	RGD	RGD:1359672
Bos taurus	SLC12A7	VGNC	VGNC:34670
Mus musculus	SLC12A7	MGD	MGI:1342283
Others	SLC12A7	NCBI