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

SLC12A7 - solute carrier family 12 member 7 Gene

中文名称:溶质载体家族 12 成员 7

种属: Homo sapiens

同用名: KCC4

基因 ID: 10723 | 基因类型: protein coding

关于 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.

功能概要

启用蛋白激酶结合活性。预计参与多个过程,包括细胞体积稳态;无机离子稳态;和无机离子跨膜转运。部分含蛋白质复合物。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(1)

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

SLC12A7 蛋白结构

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.
蛋白主名 其他名称

solute carrier family 12 member 7

K-Cl cotransporter 4

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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