1. Gene
  2. SLC10A2 - solute carrier family 10 member 2 Gene

SLC10A2 - solute carrier family 10 member 2 Gene

中文名称:溶质载体家族 10 成员 2

种属: Homo sapiens

同用名: ASBT; IBAT; ISBT; PBAM; NTCP2; PBAM1

基因 ID: 6555 | 基因类型: protein coding

关于 SLC10A2

Cytogenetic location: 13q33.1 Genomic coordinates (GRCh38): 13:103,043,998-103,066,417 (from NCBI)

This gene has 1 transcript (splice variant), 213 orthologues, 5 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 25.8), duodenum (RPKM 11.2) and 1 other tissue.

功能概要

该基因编码钠/胆汁酸协同转运蛋白。该转运体是回肠远端顶端细胞摄取肠胆汁酸的主要机制。胆汁酸是胆固醇代谢的分解代谢产物,因此这种蛋白质对于胆固醇稳态也很重要。该基因的突变会导致原发性胆汁酸吸收不良 (PBAM) ;该基因的突变也可能与其他肝脏和肠道疾病有关,例如家族性高甘油三酯血症 (FHTG) 。[RefSeq 提供,2010 年 3 月]

This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of Cholesterol metabolism, so this protein is also critical for Cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with Other Diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]

SLC10A2 基因产物(1)

mRNA Protein Name
NM_000452.3 NP_000443.2 ileal sodium/bile acid cotransporter
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

SLC10A2 蛋白结构

SBF

SBF: Sodium Bile acid symporter family (39 - 216)

  • 0
  • 100
  • 200
  • 300
  • 348 a.a.
蛋白主名 其他名称

ileal sodium/bile acid cotransporter

Na(+)-dependent ileal bile acid transporter

Na+/taurocholate cotransporting polypeptide 2

ileal apical sodium-dependent bile acid transporter

ileal bile acid transporter

ileal sodium-dependent bile acid transporter

sodium/taurocholate cotransporting polypeptide, ileal

solute carrier family 10 (sodium/bile acid cotransporter family), member 2

solute carrier family 10 (sodium/bile acid cotransporter), member 2

SLC10A2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra SLC10A2 Q12908 TTMP Homo sapiens Q5BVD1
Validated Y2H
32296183
Intra SLC10A2 Q12908 NRM Homo sapiens Q8IXM6
Validated Y2H
32296183
Intra SLC10A2 Q12908 CCL4L1 Homo sapiens Q8NHW4
Validated Y2H
32296183
Intra SLC10A2 Q12908 TEX264 Homo sapiens Q9Y6I9
Validated Y2H
32296183
Intra SLC10A2 Q12908 CTXN3 Homo sapiens Q4LDR2
Validated Y2H
32296183
Intra SLC10A2 Q12908 TMEM222 Homo sapiens Q9H0R3
Validated Y2H
32296183
Intra SLC10A2 Q12908 PSENEN Homo sapiens Q9NZ42
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cholestasis, Progressive Familial Intrahepatic, 5

PFIC5

Progressive Familial Intrahepatic Cholestasis 5

Nr1h4 Deficiency

Progressive Familial Intrahepatic Cholestasis Type 5

Cholestasis, Intrahepatic, Familial, Progressive, Type 5

Intrahepatic Cholestasis Of Pregnancy

Recurrent Intrahepatic Cholestasis Of Pregnancy

Gravidic Intrahepatic Cholestasis

Pregnancy-Related Cholestasis

Icp

Pregnancy Related Cholestasis

Cholestasis, Intrahepatic Of Pregnancy

Familial Intrahepatic Cholestasis Of Pregnancy

Familial Recurrent Intrahepatic Cholestasis Of Pregnancy

Ricp

Obstetric Cholestasis

Bile Acid Malabsorption, Primary, 1

Bile Acid Malabsorption, Primary

PBAM

PBAM1

Primary Bile Acid Malabsorption

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]

Cholestasis, Progressive Familial Intrahepatic, 2

PFIC2

Cholestasis, Progressive Familial Intrahepatic 2

Progressive Familial Intrahepatic Cholestasis Type 2

Progressive Familial Intrahepatic Cholestasis 2

Bsep Deficiency

Recurrent Familial Intrahepatic Cholestasis 2

Benign Recurrent Intrahepatic Cholestasis 2

Severe Abcb11 Deficiency

Bric2

Cholestasis, Benign Recurrent Intrahepatic 2

Mild Abcb11 Deficiency

Cholestasis, Intrahepatic, Familial, Progressive, Type 2

Congenital Diarrhea
Cholestasis, Progressive Familial Intrahepatic, 4

PFIC4

Progressive Familial Intrahepatic Cholestasis 4

Cholestasis, Progressive Familial Intrahepatic 4

Tjp2 Deficit

Progressive Familial Intrahepatic Cholestasis-4

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Progressive Familial Intrahepatic Cholestasis Type 4

Cholestasis, Intrahepatic, Familial, Progressive, Type 4

Bile Acid Synthesis Defect, Congenital, 1

Cholangitis, Primary Sclerosing

Primary Sclerosing Cholangitis

PSC

Sclerosing Cholangitis

Cholangitis, Sclerosing

Cholangitis Primary Sclerosing

Psc - [Primary Sclerosing Cholangitis]

Hyperlipoproteinemia, Type Iv

Hyperlipoproteinemia Type Iv

Carbohydrate-Inducible Hyperlipemia

Endogenous Hyperlipidaemia

Familial Hypertriglyceridemia

Fredrickson Type Iv Hyperlipoproteinemia

Fredrickson Type Iv Lipidaemia

Fredrickson Type Iv Lipidemia

Vldl Hyperlipoproteinemia

Hyperlipoproteinemia Type 4

Carbohydrate Inducible Hyperlipemia

Familial Type Iv Hyperlipoproteinemia

Familial Hyperlipoproteinemia Type Iv

Sclerosing Cholangitis

Fibrosing Cholangitis

Cholangitis, Sclerosing

Primary Sclerosing Cholangitis

Hypertriglyceridemia 1

Hypertriglyceridemia

Hypertriglyceridemia, Familial

Hypertriglyceridemia, Susceptibility To

HYTG1

FHTR

Hypertriglyceridemias Familial

Pericholangitis
Biliary Tract Disease

Biliary Tract Diseases

Biliary Tract Abnormality

Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Cholestasis

Obstruction Of Bile Duct

Bile Duct Obstruction

Bile Occlusion

Extrahepatic Biliary Obstruction

Extrahepatic Bile Duct Obstruction

Bile Stasis

Biliary Stasis

Obstructive Hyperbilirubinemia

Obstructed Jaundice

Bile Duct Obstructed

Bile Ductal Obstruction

Biliary Duct Obstruction

Obstructed Bile Ductal

Obstructed Biliary Duct

Obstructed Biliary Ductal

Jaundice Regurgitation

Obstructive Jaundice

Cholestatic Jaundice

Cholestatic Jaundice Syndrome

Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

Chylomicron Retention Disease

CMRD

Anderson Disease

Lipid Transport Defect Of Intestine

Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells

Andd

Anderson Syndrome

Crd

Andersons Disease

Malabsorption Syndrome

Cholestasis, Benign Recurrent Intrahepatic, 2

BRIC2

Benign Recurrent Intrahepatic Cholestasis 2

Benign Recurrent Intrahepatic Cholestasis Type 2

Bric Type 2

Cholestasis, Intrahepatic, Recurrent, Benign, Type 2

Cholestasis, Benign Recurrent Intrahepatic 2

Bile Duct Disease

Bile Duct Diseases

Bile Duct Disorder

Disorder Of Bile Duct

Functional Diarrhea

Functional Diarrhoea

Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1

Byler Disease

Cholestasis, Progressive Familial Intrahepatic 1

Progressive Familial Intrahepatic Cholestasis 1

Progressive Familial Intrahepatic Cholestasis Type 1

Fic1 Deficiency

Byler'S Disease

Cholestasis, Fatal Intrahepatic

Progressive Familial Intrahepatic Cholestasis

Severe Atp8b1 Deficiency

Fatal Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Familial, Progressive, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Hypercholesterolemia, Familial, 1

Hypercholesterolemia

FHCL1

Fhc

Fh

Hyperlipoproteinemia, Type Ii

Hyperlipoproteinemia, Type Iia

Hyper-Low-Density-Lipoproteinemia

Hypercholesterolemic Xanthomatosis, Familial

Ldl Receptor Disorder

Hypercholesterolemia, Susceptibility To

Hypercholesterolemia, Familial, Modifier Of

Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

Ldl Cholesterol Level Qtl2

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial, Type 1

High Cholesterol

Increased Cholesterol

Low-Density-Lipoid-Type Hyperlipoproteinemia

Pure Hypercholesterolaemia

Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

Group A Hyperlipidaemia

Pure Hypercholesterinaemia

Cholesterolaemia

Essential Cholesterolaemia

Essential Hypercholesterolaemia

Group A Hyperlipemia

Increased Low Density Lipoprotein

Low-Density-Lipoprotein-Type

Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Hepatitis D

Delta Hepatitis

Hepatitis Delta

Hdv

Hepatitis D Virus

Hepatitis D Infection

Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic

Pfic

Byler Disease

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Bsep Deficiency

Byler Disease

Byler Syndrome

Fic1 Deficiency

Low Γ-Gt Familial Intrahepatic Cholestasis

Mdr3 Deficiency

Pfic

Cholestasis, Intrahepatic, Familial, Progressive

Pfic - [Progressive Familial Intrahepatic Cholestasis]

Extrahepatic Cholestasis

Cholestasis, Extrahepatic

Extrahepatic Biliary Stasis

Extrahepatic Obstructive Biliary Disease

Cholestasis Extrahepatic

Cholestasis, Progressive Familial Intrahepatic, 3

PFIC3

Cholestasis, Progressive Familial Intrahepatic 3

Mdr3 Deficiency

Progressive Familial Intrahepatic Cholestasis Type 3

Progressive Familial Intrahepatic Cholestasis 3

Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase

Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase

Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase

Cholestasis, Intrahepatic, Familial, Progressive, Type 3

Biliary Atresia

Congenital Biliary Atresia

Isolated Biliary Atresia

Isolated Atresia Of Bile Ducts

Non-Syndromic Biliary Atresia

Atresia Of Bile Duct

Biliary Atresia, Congenital

Atresia Of Bile Ducts

Bile Duct Atresia

Congenital Bile Duct Atresia

Ba - [Biliary Atresia]

Impervious Bile Duct

Atresia Of Common Duct

Biliary Duct Atresia

Bile Ductal Atresia

Cystic Duct Atresia

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 SLC10A2 VGNC VGNC:53832
Rattus norvegicus SLC10A2 RGD RGD:3682
Mus musculus SLC10A2 MGD MGI:1201406
Canis familiaris SLC10A2 VGNC VGNC:46212
Felis catus SLC10A2 VGNC VGNC:65181
Macaca mulatta SLC10A2 VGNC VGNC:77381