1. Gene
  2. SLC26A9 - solute carrier family 26 member 9 Gene

SLC26A9 - solute carrier family 26 member 9 Gene

中文名称:溶质载体家族 26 成员 9

种属: Homo sapiens

基因 ID: 115019 | 基因类型: protein coding

关于 SLC26A9

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:205,913,052-205,943,456 (from NCBI)

This gene has 6 transcripts (splice variants), 187 orthologues, 9 paralogues and is associated with 1 phenotype. Biased expression in salivary gland (RPKM 19.0), stomach (RPKM 12.3) and 5 other tissues.

功能概要

该基因是硫酸盐/阴离子转运基因家族的成员之一。家族成员的基因组 (外显子的数量和大小) 和蛋白质 (物种间的长度) 结构非常保守,但组织表达模式却明显不同。该基因的产物是由 WNK 激酶调节的高选择性氯离子通道。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 12 月]

This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008]

SLC26A9 基因产物(2)

mRNA Protein Name
NM_052934.4 NP_443166.1 solute carrier family 26 member 9 isoform a
NM_134325.3 NP_599152.2 solute carrier family 26 member 9 isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATPase binding IPI
IPI: 通过物理相互作用推断
19289574 GOA
enables chloride channel activity IDA
IDA: 通过直接分析推断
17673510 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28360110 GOA
enables solute:inorganic anion antiporter activity IDA
IDA: 通过直接分析推断
15800055 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chloride transmembrane transport IDA
IDA: 通过直接分析推断
15800055 GOA
involved in chloride transport IDA
IDA: 通过直接分析推断
17673510 GOA
involved in monoatomic anion transport IDA
IDA: 通过直接分析推断
17673510 GOA
involved in positive regulation of gene expression IDA
IDA: 通过直接分析推断
20658517 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in Golgi membrane IDA
IDA: 通过直接分析推断
26801567 GOA
located in apical plasma membrane IDA
IDA: 通过直接分析推断
20658517 GOA
located in cell surface IDA
IDA: 通过直接分析推断
17673510 GOA
is active in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
26801567 GOA
is active in endosome membrane IDA
IDA: 通过直接分析推断
26801567 GOA
is active in plasma membrane IDA
IDA: 通过直接分析推断
26801567 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC26A9 蛋白结构

(56 - 138)

Sulfate_transp

Sulfate_transp: Sulfate permease family (187 - 465)

STAS

STAS: STAS domain (522 - 733)

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

solute carrier family 26 member 9

anion transporter/exchanger protein 9

关联疾病

疾病名称 别名
Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Ileus

Ileus Of Intestine

Parotid Gland Cancer

Cancer Of Parotid Gland

Parotid Neoplasms

Malignant Neoplasm Of The Parotid

Malignant Tumor Of Parotid Gland

Parotid Cancer

Parotid Neoplasm

Parotid Gland Carcinoma

Cancer Of Parotid

Malignant Tumour Of Parotid Gland

Parotid Duct Cancer

Parotid Ductal Cancer

Parotid Glandular Cancer

Primary Malignant Neoplasm Of Parotid Gland

Pendred Syndrome

Goiter-Deafness Syndrome

Deafness With Goiter

PDS

Thyroid Dyshormonogenesis 2b

Tdh2b

Autosomal Recessive Sensorineural Hearing Impairment And Goiter

Pendred'S Syndrome

Thyroid Hormonogenesis, Genetic Defect In, 2b

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

Congenital Hypothyroidism Due To Dyshormonogenesis 2b

Genetic Defect In Thyroid Hormonogenesis 2b

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

Goiter-Hearing Loss Syndrome

Goitre-Deafness Syndrome

Goitre Deafness

Intestinal Obstruction

Inspissated Milk Syndrome

Milk Curd 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
Mus musculus SLC26A9 MGD MGI:2444594
Bos taurus SLC26A9 VGNC VGNC:34784
Macaca mulatta SLC26A9 VGNC VGNC:77480
Felis catus SLC26A9 VGNC VGNC:65287
Canis familiaris SLC26A9 VGNC VGNC:46328
Rattus norvegicus SLC26A9 RGD RGD:1310441
Others SLC26A9 NCBI