2. Gene
  3. SLC12A9 - solute carrier family 12 member 9 Gene

SLC12A9 - solute carrier family 12 member 9 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 12 成员 9

种属: Homo sapiens

同用名: CCC6; CIP1; WO3.3; hCCC6

基因 ID: 56996 | 基因类型: protein coding

关于 SLC12A9

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,826,869-100,867,012 (from NCBI)

This gene has 15 transcripts (splice variants), 188 orthologues and 8 paralogues. Ubiquitous expression in placenta (RPKM 13.3), spleen (RPKM 11.5) and 25 other tissues.

功能概要

预计会启用钾：氯化物同向转运体活性。预计参与细胞体积稳态；无机离子稳态；和无机离子跨膜转运。位于细胞外外泌体。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable potassium:chloride symporter activity. Predicted to be involved in cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

SLC12A9 基因产物(5)

mRNA Protein Name
NM_001267812.2 NP_001254741.1 solute carrier family 12 member 9 isoform 2
NM_001267814.2 NP_001254743.1 solute carrier family 12 member 9 isoform 3
NM_001363493.2 NP_001350422.1 solute carrier family 12 member 9 isoform 1
NM_001363494.1 NP_001350423.1 solute carrier family 12 member 9 isoform 4
NM_020246.4 NP_064631.2 solute carrier family 12 member 9 isoform 1

SLC12A9 蛋白结构

AA_permease

AA_permease: Amino acid permease (42 - 535)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 914 a.a.
蛋白主名 其他名称

solute carrier family 12 member 9

CCC-interacting protein 1

关联疾病

疾病名称 别名
Capillary Malformation-Arteriovenous Malformation 2

CMAVM2

Vein Of Galen Aneurysmal Malformation

Vein Of Galen Arteriovenous Malformations

Capillary Malformation-Arteriovenous Malformation, Type 2
Deafness, Autosomal Recessive 103

DFNB103

Autosomal Recessive Nonsyndromic Deafness 103

Autosomal Recessive Deafness 103

Deafness, Autosomal Recessive, 103

Deafness, Autosomal Recessive, Type 103
Thiamine-Responsive Megaloblastic Anemia Syndrome

TRMA

Rogers Syndrome

Thiamine-Responsive Myelodysplasia

Thiamine-Responsive Anemia Syndrome

Thiamine Metabolism Dysfunction Syndrome 1

Thmd1

Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness

Thiamine Responsive Megaloblastic Anemia Syndrome

Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia

Thiamine-Responsive Anaemia Syndrome

Thiamine-Responsive Megaloblastic Anaemia Syndrome

Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13004 SLC12A9 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus SLC12A9 VGNC VGNC:34672
Rattus norvegicus SLC12A9 RGD RGD:620747
Mus musculus SLC12A9 MGD MGI:1933532
Canis familiaris SLC12A9 VGNC VGNC:46226
Macaca mulatta SLC12A9 VGNC VGNC:77500
Felis catus SLC12A9 VGNC VGNC:65195
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