1. Gene
  2. SLC26A6 - solute carrier family 26 member 6 Gene

SLC26A6 - solute carrier family 26 member 6 Gene

中文名称:溶质载体家族 26 成员 6

种属: Homo sapiens

基因 ID: 65010 | 基因类型: protein coding

关于 SLC26A6

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,625,723-48,635,461 (from NCBI)

This gene has 22 transcripts (splice variants), 354 orthologues and 9 paralogues. Ubiquitous expression in colon (RPKM 11.7), bone marrow (RPKM 8.2) and 25 other tissues.

功能概要

该基因属于溶质载体 26 家族,其成员编码阴离子转运蛋白。这个特殊的家族成员编码一种参与运输氯化物、草酸盐、硫酸盐和碳酸氢盐的蛋白质。已经描述了编码不同同种型的选择性剪接转录物变体。[RefSeq 提供,2013 年 8 月]

This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013]

SLC26A6 基因产物(6)

mRNA Protein Name
NM_001040454.1 NP_001035544.1 solute carrier family 26 member 6 isoform 4
NM_001281732.2 NP_001268661.1 solute carrier family 26 member 6 isoform 5
NM_001281733.2 NP_001268662.1 solute carrier family 26 member 6 isoform 6
NM_022911.3 NP_075062.2 solute carrier family 26 member 6 isoform 1
NM_134263.3 NP_599025.2 solute carrier family 26 member 6 isoform 2
NM_134426.3 NP_602298.2 solute carrier family 26 member 6 isoform 3
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 bicarbonate transmembrane transporter activity IDA
IDA: 通过直接分析推断
12444019 GOA
enables chloride transmembrane transporter activity IDA
IDA: 通过直接分析推断
12444019 GOA
enables chloride:bicarbonate antiporter activity IDA
IDA: 通过直接分析推断
12444019 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12444019 GOA
enables solute:inorganic anion antiporter activity IDA
IDA: 通过直接分析推断
15548529 GOA
enables solute:inorganic anion antiporter activity IMP
IMP: 通过突变表型推断
20501439 GOA
enables sulfate transmembrane transporter activity IDA
IDA: 通过直接分析推断
12444019 GOA
enables sulfate:bicarbonate antiporter activity IDA
IDA: 通过直接分析推断
12444019 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in angiotensin-activated signaling pathway IDA
IDA: 通过直接分析推断
15990874 GOA
involved in bicarbonate transport IDA
IDA: 通过直接分析推断
15990874 GOA
involved in bicarbonate transport IMP
IMP: 通过突变表型推断
20501439 GOA
involved in cellular response to type II interferon IDA
IDA: 通过直接分析推断
18655181 GOA
involved in chloride transport IDA
IDA: 通过直接分析推断
15990874 GOA
involved in chloride transport IMP
IMP: 通过突变表型推断
20501439 GOA
involved in oxalate transport IMP
IMP: 通过突变表型推断
20501439 GOA
involved in protein kinase C signaling IDA
IDA: 通过直接分析推断
15990874 GOA
involved in regulation of intracellular pH IDA
IDA: 通过直接分析推断
15990874 GOA
involved in regulation of intracellular pH IMP
IMP: 通过突变表型推断
20501439 GOA
involved in sulfate transmembrane transport IMP
IMP: 通过突变表型推断
20501439 GOA
involved in transepithelial chloride transport IMP
IMP: 通过突变表型推断
20501439 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
11087667 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
11087667 GOA
located in brush border membrane IDA
IDA: 通过直接分析推断
11087667 GOA
located in membrane IDA
IDA: 通过直接分析推断
11087667 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12444019 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

SLC26A6 蛋白结构

(75 - 157)

Sulfate_transp

Sulfate_transp: Sulfate permease family (198 - 476)

STAS

STAS: STAS domain (531 - 738)

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

solute carrier family 26 member 6

anion exchange transporter

关联疾病

疾病名称 别名
Urolithiasis
Spermatocele
Sialolithiasis

Sialolith

Stone Of Salivary Gland Or Duct

Salivary Gland Calculi

Salivary Gland Stone

Calculus Of Salivary Gland Or Duct

Calculus Of Salivary Gland

Salivary Calculus

Salivary Gland Calculus

Salivary Stone

Salivary Duct Calculi

Sialodocholithiasis

Renal Tuberculosis

Tuberculosis, Renal

Tuberculosis Of Kidney

Tuberculosis Renal

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Diarrhea 1, Secretory Chloride, Congenital

DIAR1

Chloride Diarrhea, Congenital, Finnish Type

Congenital Secretory Chloride Diarrhea 1

Congenital Chloride Diarrhea Finnish Type

Congenital Chloride Diarrhea

Chloridorrhea, Congenital

Congenital Chloride Diarrhoea Finnish Type

Congenital Chloridorrhea

Congenital Secretory Chloride Diarrhoea 1

Chloridorrhea Congenital

Cld

Diarrhea 1 Secretory Chloride Congenital

Diarrhea, Type 1, Chloride, Secretory, Congenital

Lower Urinary Tract Calculus

Calculus Of Lower Urinary Tract

Motility-Related Diarrhea
Urogenital Tuberculosis

Tuberculosis, Urogenital

Genitourinary Tuberculosis

Bladder Calculus

Urinary Bladder Calculi

Urinary Bladder Stone

Bladder Calculi

Bladder Stone

Urinary Bladder Calculus

Vesical Calculi

Vesical Calculus

Vesicolithiasis

Cystolithiasis

Cystic Calculi

Cystic Calculus

Nephrolithiasis, Calcium Oxalate

Kidney Stones

Calculus Of Kidney

Kidney Calculi

Nephrolithiasis

Renal Calculi

Calcium Oxalate Urolithiasis

CAON

Urolithiasis, Calcium Oxalate

Calcium Oxalate Nephrolithiasis

Kidney Stone

Nephrolith

Renal Calculus

Urinary Stones

Renal Stone

Calculus, Kidney

Calculus, Renal

Renal Lithiasis

Renal Stones

Urolithiasis

Renal Calculus Or Stone

Stone In Kidney

Nephritic Calculus

Multiple Kidney Calculi

Multiple Kidney Calculus

Nephrolithiasis Nos

Pelvic Nephrolithiasis

Pelviolithiasis

Pelvis Nephrolithiasis

Diastrophic Dysplasia

Diastrophic Dwarfism

DTD

Dd

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant

Dysplasia, Diastrophic

Diastrophic Dysplasia Variant

Hyperoxaluria, Primary, Type Iii

Primary Hyperoxaluria Type 3

HP3

Ph Iii

Primary Hyperoxaluria Type Iii

Hyperoxaluria Primary 3

Hyperoxaluria Non-Hp1/Non-Hp2

Hyperoxaluria Non-Ph I/Ph Ii Form

Hyperoxaluria Primary Type Iii

Inflammatory Diarrhea
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

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

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
Bos taurus SLC26A6 VGNC VGNC:34781
Rattus norvegicus SLC26A6 RGD RGD:1310197
Mus musculus SLC26A6 MGD MGI:2159728
Macaca mulatta SLC26A6 VGNC VGNC:77483