NR1H4 - nuclear receptor subfamily 1 group H member 4 Gene

Also Known as BAR; FXR; HRR1; HRR-1; PFIC5; RIP14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9971

About NR1H4

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:100,473,866-100,564,414 (from NCBI)

This gene has 11 transcripts (splice variants), 388 orthologues, 18 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 14.7), small intestine (RPKM 8.3) and 6 other tissues.

Summary

This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

NR1H4 Products (12)

mRNA Protein Name
NM_005123.4 NP_005114.1 bile acid receptor isoform 2
NR_135146.2
NM_001206979.2 NP_001193908.1 bile acid receptor isoform 1
XM_006719719.3 XP_006719782.1 bile acid receptor isoform X4
XM_011539040.3 XP_011537342.1 bile acid receptor isoform X1
NM_001206977.2 NP_001193906.1 bile acid receptor isoform 1
NM_001206978.2 NP_001193907.1 bile acid receptor isoform 5
NM_001206993.2 NP_001193922.1 bile acid receptor isoform 3
NM_001206992.2 NP_001193921.1 bile acid receptor isoform 4
XM_047429943.1 XP_047285899.1 bile acid receptor isoform X2
XM_047429944.1 XP_047285900.1 bile acid receptor isoform X5
XM_011539041.3 XP_011537343.1 bile acid receptor isoform X3
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
21757002 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
21757002 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
21757002 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
23767959 GOA
enables bile acid binding IDA
IDA: Inferred from direct assay
21757002 GOA
enables bile acid nuclear receptor activity IDA
IDA: Inferred from direct assay
10334992 GOA
enables chenodeoxycholic acid binding IDA
IDA: Inferred from direct assay
10334992 GOA
enables nuclear receptor activity IDA
IDA: Inferred from direct assay
27471003 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12917342 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12815072 GOA
enables transcription cis-regulatory region binding IMP
IMP: Inferred from mutant phenotype
26888176 GOA
enables transcription coregulator binding IPI
IPI: Inferred from physical interaction
14701856 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to bile acid IDA
IDA: Inferred from direct assay
10334992 GOA
involved in cellular response to bile acid IMP
IMP: Inferred from mutant phenotype
23767959 GOA
involved in cellular response to fatty acid IDA
IDA: Inferred from direct assay
20447400 GOA
involved in intracellular triglyceride homeostasis IDA
IDA: Inferred from direct assay
20447400 GOA
involved in negative regulation of apoptotic process IDA
IDA: Inferred from direct assay
20447400 GOA
involved in negative regulation of canonical NF-kappaB signal transduction IDA
IDA: Inferred from direct assay
21242261 GOA
involved in negative regulation of tumor necrosis factor production IDA
IDA: Inferred from direct assay
21242261 GOA
involved in negative regulation of type II interferon production IDA
IDA: Inferred from direct assay
21242261 GOA
acts upstream of or within negative regulation of very-low-density lipoprotein particle remodeling IDA
IDA: Inferred from direct assay
27471003 GOA
involved in nuclear receptor-mediated bile acid signaling pathway IDA
IDA: Inferred from direct assay
10334992 GOA
acts upstream of or within positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
27471003 GOA
involved in positive regulation of interleukin-17 production IDA
IDA: Inferred from direct assay
21242261 GOA
involved in positive regulation of phosphatidic acid biosynthetic process IDA
IDA: Inferred from direct assay
23767959 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
23767959 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
21757002 GOA
involved in regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
26888176 GOA
involved in regulation of insulin secretion involved in cellular response to glucose stimulus IDA
IDA: Inferred from direct assay
20447400 GOA
involved in regulation of low-density lipoprotein particle clearance IDA
IDA: Inferred from direct assay
12660231 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10334992 GOA
Cellular Component GO Annotation Evidence References Source
located in euchromatin IDA
IDA: Inferred from direct assay
21757002 GOA
part of receptor complex IDA
IDA: Inferred from direct assay
10334992 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NR1H4 Protein Structure

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (136 - 202)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (290 - 463)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 486 a.a.
Protein Preferred Names Protein Names

bile acid receptor

  • RXR-interacting protein 14

  • farnesoid X nuclear receptor

  • farnesoid X-activated receptor

  • farnesol receptor HRR-1

  • retinoid X receptor-interacting protein 14

NR1H4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NR1H4 Q96RI1 PHF2 Homo sapiens O75151 21532585
Intra
NR1H4 Q96RI1 SETD7 Homo sapiens Q8WTS6
Y2H
22345554
Intra
NR1H4 Q96RI1 SETD7 Homo sapiens Q8WTS6 22345554
Intra
NR1H4 Q96RI1 SETD7 Homo sapiens Q8WTS6 22345554
Intra
NR1H4 Q96RI1 SETD7 Homo sapiens Q8WTS6 22345554
Intra
NR1H4 Q96RI1 NCOA1 Homo sapiens Q15788 14684751
Intra
NR1H4 Q96RI1 NCOA1 Homo sapiens Q15788 14684751
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Biliary Tract Disease
  • Biliary Tract Diseases

  • Biliary Tract Abnormality

Cardiovascular System Disease
  • Abnormality Of The Cardiovascular System

  • Disease Of Subdivision Of Hemolymphoid System

  • Disorder Of Cardiovascular System

  • Cardiovascular Diseases

  • Cardiovascular Disease

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

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Obesity , Susceptibility To

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Lysosomal Storage Disease
  • Lysosomal Storage Diseases

  • Disorder Of Lysosomal Enzyme

  • Inborn Lysosomal Enzyme Disorder

  • Lysosomal Storage Metabolism Disorder

  • Lysosomal Storage Disorder

Osteogenesis Imperfecta, Type Xiii
  • Osteogenesis Imperfecta Type 13

  • OI13

  • Osteogenesis Imperfecta Type Xiii

  • Oi, Type Xiii

  • Osteogenesis Imperfecta 13

  • Oi Type Xiii

  • Oi-Xiii

Cholangitis
  • Acute Cholangiolitis

  • Ascending Cholangitis

  • Cholangiolitis

  • Cholangitis Nos

  • Chronic Cholangiolitis

  • Hepatic Duct Inflammation

  • Acute Cholangitis

  • Bile Duct Inflammation

Leber Congenital Amaurosis 7
  • LCA7

  • Leber Congenital Amaurosis, Type 7

Fatty Liver Disease
  • Alcoholic Fatty Liver

  • Fatty Liver

  • Fatty Liver, Alcoholic

  • Fatty Change Of Liver

  • Hepatic Lipidosis

  • Steatosis Of Liver

  • Fatty Liver Alcoholic

  • Steatohepatitis

  • Etoh Fatty Liver

  • Etoh Fatty Liver Metamorphosis

  • Fatty Etoh Liver Necrosis

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

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

Bile Duct Disease
  • Bile Duct Diseases

  • Bile Duct Disorder

  • Disorder Of Bile Duct

Functional Diarrhea
  • Functional Diarrhoea

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

Liver Disease
  • Liver Failure

  • Liver Diseases

  • Abnormality Of The Liver

  • Liver Dysfunction

  • Disorder Of Liver

  • Hepatic Disorder

  • Hepatic Disease

  • Disease Of Bilirubin Metabolism

  • Disorder Of Bilirubin Metabolism

  • Liver Decompensation

  • Liver Function Failure

  • Hepatic Failure Nos

  • Liver Failure Nos

  • End Stage Liver Disease

  • Decompensated Liver Failure

  • Decompensation Of Liver Function

  • Hepatic Decompensation

  • Hepatic Insufficiency

  • Liver Cell Necrosis With Hepatic Failure

  • Liver Insufficiency

  • Decompensated Liver Disease

  • End Stage Liver Failure

  • Liver Necrosis With Hepatic Failure

Diabetes Mellitus
  • Diabetes

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

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Diabetes Mellitus, Non-Insulin-Dependent

  • Type 2 Diabetes

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Cholelithiasis
Abdominal Obesity-Metabolic Syndrome 1
  • Metabolic Syndrome X

  • Metabolic Syndrome

  • AOMS1

  • Dysmetabolic Syndrome X

  • Metabolic Disease

  • Abdominal Obesity Metabolic Syndrome

Non-Alcoholic Fatty Liver Disease
  • Fatty Liver

  • Non-Alcoholic Fatty Liver

  • Nafld

  • Nonalcoholic Fatty Liver Disease

  • Nonalcoholic Steatohepatitis

  • Steatosis

  • Nafl

  • Nash

  • Non-Alcoholic Steatohepatitis

  • Susceptibility To Nonalcoholic Fatty Liver Disease

  • Steatohepatitis

  • Fatty Degeneration

  • Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

  • Nafld Without Nash

  • Nafld Without Mention Of Nash

Cerebrotendinous Xanthomatosis
  • CTX

  • Cerebral Cholesterinosis

  • Cholestanol Storage Disease

  • Xanthomatosis, Cerebrotendinous

  • Sterol 27-Hydroxylase Deficiency

  • Xanthomatosis Cerebrotendinous

  • Cerebrotendinous Cholesterinosis

  • Cholestanolosis

  • Van Bogaert-Scherer-Epstein Disease

Trimethylaminuria
  • TMAU

  • Fish-Odor Syndrome

  • Fish Malodor Syndrome

  • Fish Odor Syndrome

  • Stale Fish Syndrome

  • Tmauria

  • Severe Primary Trimethylaminuria

  • Mesh

  • D008661

  • Fish Odour Syndrome

Sclerosing Cholangitis
  • Fibrosing Cholangitis

  • Cholangitis, Sclerosing

  • Primary Sclerosing Cholangitis

Fragile X Syndrome
  • FXS

  • Martin-Bell Syndrome

  • Fraxa Syndrome

  • Marker X Syndrome

  • X-Linked Mental Retardation And Macroorchidism

  • Fragile X Mental Retardation Syndrome

  • Fra Syndrome

  • Mental Retardation, X-Linked, Associated With Marxq28

  • Frax Syndrome

  • Symptomatic Form Of Fragile X Syndrome In Female Carriers

  • Fragile-X Syndrome

  • Fraxe Syndrome

Cholangitis, Primary Sclerosing
  • Primary Sclerosing Cholangitis

  • PSC

  • Sclerosing Cholangitis

  • Cholangitis, Sclerosing

  • Cholangitis Primary Sclerosing

  • Psc - [Primary Sclerosing Cholangitis]

Non-Alcoholic Steatohepatitis
  • Nonalcoholic Steatohepatitis

  • Nash

  • Nash - [Non-Alcoholic Steatohepatitis]

  • Non-Alcoholic Steatohepatosis

Pericholangitis
Barrett Esophagus
  • Barrett Esophagus/Esophageal Adenocarcinoma

  • Barrett'S Esophagus

  • Barrett Metaplasia

  • Barrett'S Ulcer Of Esophagus

  • Ulcerative Esophagitis

  • Barrett'S Esophagus With Esophagitis

  • Barrett'S Oesophagus

  • Barretts Syndrome

  • Barrett Syndrome

  • BE

  • Peptic Ulcer Of Esophagus

  • Adenocarcinoma Of Esophagus

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

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

Autoimmune Disease Of Gastrointestinal Tract
Hepatic Vascular Disease
  • Vascular Disorder Of Liver

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]

Bile Reflux
Arthrogryposis, Distal, Type 1c
  • DA1C

  • Distal Arthrogryposis Type 1c

  • Arthrogryposis, Distal, 1c

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

Lipid Metabolism Disorder
  • Dyslipidemia

  • Disorder Of Fatty Acid Metabolism

  • Lipid Metabolism Disorders

  • Fatty Acid Metabolism Disorder

  • Disorder Of Lipid Metabolism

  • Abnormality Of Lipid Metabolism

  • Lipid Metabolism, Inborn Errors

  • Dyslipidemias

  • Disorders Of Lipid Metabolism

  • Congenital Disorders Of Lipid Metabolism

  • Inherited Disorders Of Lipid Metabolism

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

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

Xanthomatosis
  • Xanthomatosis, Susceptibility To

  • Xanthelasmatosis

Choline Deficiency Disease
  • Choline Deficiency

Lipid Storage Disease
  • Lipoidosis

  • Inborn Lipid Storage Disorder

  • Lipoid Storage Diseas

  • Lipid Storage Diseases

  • Lipidoses

Portal Hypertension
  • Hypertension, Portal

  • Hypertension Portal

  • Pht - [Portal Hypertension]

  • Portal Htn

Alcoholic Hepatitis
  • Acute Alcoholic Hepatitis

  • Acute Alcoholic Liver Disease

  • Hepatitis, Alcoholic

  • Hepatitis Alcoholic

  • Ah - [Alcoholic Hepatitis]

  • Ethanol Hepatitis

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]

Hepatocellular Clear Cell Carcinoma
  • Clear Cell Carcinoma Of The Liver Cells

  • Hepatocellular Carcinoma, Clear Cell Type

  • Clear Cell Hepatocellular Carcinoma

Extrahepatic Cholestasis
  • Cholestasis, Extrahepatic

  • Extrahepatic Biliary Stasis

  • Extrahepatic Obstructive Biliary Disease

  • Cholestasis Extrahepatic

Gallbladder Disease
  • Gallbladder Diseases

  • Gall Bladder

  • Gall Bladder Diseases

  • Abnormal Gallbladder Function

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

Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Bos taurus NR1H4 VGNC VGNC:32232
Canis familiaris NR1H4 VGNC VGNC:43944
Felis catus NR1H4 VGNC VGNC:68546
Rattus norvegicus NR1H4 RGD RGD:628831
Mus musculus NR1H4 MGD MGI:1352464
Macaca mulatta NR1H4 VGNC VGNC:75506
Others NR1H4 NCBI