1. Gene
  2. SLC12A7 - solute carrier family 12 member 7 Gene

SLC12A7 - solute carrier family 12 member 7 Gene

Homo sapiens

Also known as KCC4

Gene ID: 10723 | Gene type: protein coding

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

SLC12A7 Protein Structure

AA_permease

AA_permease: Amino acid permease (123 - 296)

AA_permease

AA_permease: Amino acid permease (419 - 695)

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  • 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

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