1. Gene
  2. SLC26A7 - solute carrier family 26 member 7 Gene

SLC26A7 - solute carrier family 26 member 7 Gene

中文名称:溶质载体家族 26 成员 7

种属: Homo sapiens

同用名: SUT2

基因 ID: 115111 | 基因类型: protein coding

关于 SLC26A7

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:91,209,496-91,398,155 (from NCBI)

This gene has 10 transcripts (splice variants), 139 orthologues and 9 paralogues. Restricted expression toward thyroid (RPKM 194.6).

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。家族成员在基因结构和蛋白质长度方面非常保守,但具有明显不同的组织表达模式。该基因在肾脏中具有丰富且特异的表达。已经描述了编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2013 年 8 月]

This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]

SLC26A7 基因产物(4)

mRNA Protein Name
NM_001282356.2 NP_001269285.1 anion exchange transporter isoform a
NM_001282357.2 NP_001269286.1 anion exchange transporter isoform c
NM_052832.4 NP_439897.1 anion exchange transporter isoform a
NM_134266.2 NP_599028.1 anion exchange transporter 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 chloride channel activity IDA
IDA: 通过直接分析推断
11834742 GOA
enables chloride:bicarbonate antiporter activity IDA
IDA: 通过直接分析推断
12736153 GOA
enables oxalate transmembrane transporter activity IDA
IDA: 通过直接分析推断
11834742 GOA
enables sulfate transmembrane transporter activity IDA
IDA: 通过直接分析推断
11834742 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chloride transport IDA
IDA: 通过直接分析推断
11834742 GOA
involved in iodide transport IMP
IMP: 通过突变表型推断
31372509 GOA
involved in oxalate transport IDA
IDA: 通过直接分析推断
11834742 GOA
involved in sulfate transmembrane transport IDA
IDA: 通过直接分析推断
11834742 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
31372509 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
30333321 GOA
located in basolateral plasma membrane IMP
IMP: 通过突变表型推断
16524946 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
16524946 GOA
located in endosome IDA
IDA: 通过直接分析推断
16524946 GOA
located in lateral plasma membrane IDA
IDA: 通过直接分析推断
31372509 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

SLC26A7 蛋白结构

(32 - 115)

Sulfate_transp

Sulfate_transp: Sulfate permease family (164 - 438)

STAS

STAS: STAS domain (495 - 637)

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

anion exchange transporter

solute carrier family 26 (anion exchanger), member 7

关联疾病

疾病名称 别名
Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Dyshormonogenic Goiter

Dyshormonogenic Goitre

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

Diastrophic Dysplasia

Diastrophic Dwarfism

DTD

Dd

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant

Dysplasia, Diastrophic

Diastrophic Dysplasia Variant

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]

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Brown-Vialetto-Van Laere Syndrome 2

BVVLS2

Rfvt3-Related Riboflavin Transporter Deficiency

Rtd3

Riboflavin Transporter Deficiency 3

Brown-Vialetto-Van Laere Syndrome, Type 2

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 SLC26A7 MGD MGI:2384791
Canis familiaris SLC26A7 VGNC VGNC:46326
Rattus norvegicus SLC26A7 RGD RGD:1310846
Bos taurus SLC26A7 VGNC VGNC:34782
Felis catus SLC26A7 VGNC VGNC:65285
Macaca mulatta SLC26A7 VGNC VGNC:77478