1. Gene
  2. SLC26A3 - solute carrier family 26 member 3 Gene

SLC26A3 - solute carrier family 26 member 3 Gene

中文名称:溶质载体家族 26 成员 3

种属: Homo sapiens

同用名: CLD; DRA

基因 ID: 1811 | 基因类型: protein coding

关于 SLC26A3

Cytogenetic location: 7q22.3-q31.1 Genomic coordinates (GRCh38): 7:107,765,469-107,803,223 (from NCBI)

This gene has 5 transcripts (splice variants), 252 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in colon (RPKM 709.1), duodenum (RPKM 299.0) and 1 other tissue.

功能概要

由该基因编码的蛋白质是一种跨膜糖蛋白,可将氯离子转运穿过细胞膜以交换碳酸氢根离子。它定位于下肠道的粘膜,特别是柱状上皮和一些杯状细胞的顶膜。该蛋白质对于肠道氯化物吸收至关重要,该基因的突变与先天性氯化物腹泻有关。[RefSeq 提供,2008 年 10 月]

The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008]

SLC26A3 基因产物(1)

mRNA Protein Name
NM_000111.3 NP_000102.1 chloride anion exchanger

SLC26A3 蛋白结构

(58 - 139)

Sulfate_transp

Sulfate_transp: Sulfate permease family (193 - 471)

STAS

STAS: STAS domain (526 - 716)

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

chloride anion exchanger

down-regulated in adenoma protein

关联疾病

疾病名称 别名
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

Congenital Chloride Diarrhea

Familial Chloride Diarrhea

Chloride Diarrhea, Congenital, Finnish Type

Diarrhea 1

Cld

Chloridorrhea, Congenital

Congenital Chloridorrhea

Diar1

Darrow-Gamble Disease

Diarrhea 1, Secretory Chloride, Congenital

Intestinal Obstruction

Inspissated Milk Syndrome

Milk Curd Syndrome

Polyhydramnios
Hydrops Fetalis, Nonimmune

Hydrops Fetalis

Non-Immune Hydrops Fetalis

NIHF

Familial Non-Immune Hydrops Fetalis

Hydrops Fetalis Nonimmune

Idiopathic Hydrops Fetalis

Hb Bart'S Hydrops Fetalis

Alpha-Thalassemia Hydrops Fetalis

Alpha-Thalassemia Major

Hemoglobin Bart'S Hydrops Fetalis

Homozygous Alpha0-Thalassemia

Fetal Anasarca

Fetal Hydrops

Generalized Fetal Edema

Hf

Non-Immune Hf

Non-Immune Fetal Edema

Non-Immune Fetal Hydrops

Hydrops Fetalis, Non-Immune

Hemoglobin Bart'S Hydrops Syndrome

Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Adenoma

Acinar Cell Adenoma

Adenomas

Acinic Cell Adenoma

Spermatocele
Colon Adenoma

Adenomatous Polyp Of Colon

Diastrophic Dysplasia

Diastrophic Dwarfism

DTD

Dd

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant

Dysplasia, Diastrophic

Diastrophic Dysplasia Variant

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

Orbital Tenonitis

Tenonitis

Inflammatory Diarrhea
Dialysis-Related Amyloidosis

Abeta2m Amyloidosis

Amyloidosis Beta2m

Beta2-Microglobulinic Amyloidosis

Variant Abeta2m Amyloidosis

Autosomal Dominant Beta2-Microglobulinic Amyloidosis

Aβ2m Amyloidosis

Dialysis-Related Beta2-Microglobulin Amyloidosis

Amyloidosis Dialysis-Related

Beta-2-Microglobulin Amyloidosis

Dra

Hemodialysis-Associated Amyloidosis

Secretory Diarrhea
Osmotic Diarrhea
Lactase Deficiency, Congenital

Congenital Lactase Deficiency

Disaccharide Intolerance Ii

Congenital Alactasia

Congenital Alactasia Syndrome

Congenital Lactose Intolerance

Congenital Lactose Malabsorption

Hereditary Alactasia

Alactasia, Congenital

Cld

COLACD

Disaccharide Intolerance Type 2

Cld - [Congenital Lactase Deficiency]

Disaccharide Intolerance 2

Lactose Intolerance Of Newborn

Hereditary Lactase Deficiency

Diarrhea 8, Secretory Sodium, Congenital

Congenital Secretory Sodium Diarrhea 8

DIAR8

Diarrhea, Congenital Sodium

Csd

Congenital Secretory Diarrhea, Sodium Type

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

Diarrhea 5, With Tufting Enteropathy, Congenital

Congenital Diarrhea 5 With Tufting Enteropathy

Congenital Tufting Enteropathy

DIAR5

Cte

Intestinal Epithelial Cell Dysplasia

Tufting Enteropathy

Ied

Intestinal Epithelial Dysplasia

Enteropathy, Congenital Tufting

Congenital Diarrhoea 5 With Tufting Enteropathy

Congenital Familial Intractable Diarrhea With Epithelial Or Epithelium Abnormalities

Congenital Familial Intractable Diarrhoea With Epithelial Or Epithelium Abnormalities

Congenital Enteropathy

Congenital Familial Intractable Diarrhea With Enterocytes Assembly Abnormalities

Non-Syndromic Congenital Tufting Enteropathy

Diarrhea, Type 5, With Tufting Enteropathy, Congenital

Intestinal Intraepithelial Neoplasia

Postaxial Acrofacial Dysostosis

Miller Syndrome

POADS

Genee-Wiedemann Syndrome

Postaxial Acrodysostosis

Genee-Wiedemann Acrofacial Dysostosis

Acrofacial Dysostosis, Genee-Wiedmann Type

Mandibulfacial Dysostosis With Postaxial Limb Anomalies

Gwafd

Poads Syndrome

Postaxial Acrofacial Dysostosis Syndrome

Wildervanck-Smith Syndrome

Acrofacial Dysostosis, Genee-Wiedemann Type

Mandibulofacial Dysostosis With Postaxial Limb Anomalies

Genée-Wiedemann Syndrome

Chromosome 11p Deletion Syndrome

Intestinal Impaction
Congenital Diarrhea
Microvillus Inclusion Disease

Congenital Microvillous Atrophy

Intractable Diarrhea Of Infancy

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

Davidson Disease

Microvillous Inclusion Disease

Congenital Microvillus Atrophy

Mvid

Diarrhea 2 With Microvillus Atrophy

Mvd

Congenital Familial Protracted Diarrhea

Davidson'S Disease

Familial Enteropathy, Microvillus

Microvillus Atrophy, Congenital

Congenital Enteropathy

Familial Protracted Enteropathy

Microvillous Atrophy

Microvillus Atrophy With Diarrhea 2

Idi

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy

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
Canis familiaris SLC26A3 VGNC VGNC:46323
Macaca mulatta SLC26A3 VGNC VGNC:108438
Rattus norvegicus SLC26A3 RGD RGD:620623
Felis catus SLC26A3 VGNC VGNC:65284
Bos taurus SLC26A3 VGNC VGNC:34778
Mus musculus SLC26A3 MGD MGI:107181