ABCB4 (ATP binding cassette subfamily B member 4)

2010-01-01  

Identity

HGNC
ABCB4
LOCATION
7q21.12
LOCUSID
5244
ALIAS
ABC21,GBD1,ICP3,MDR2,MDR2/3,MDR3,PFIC-3,PGY3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5244
MIM: 171060
HGNC: 45
Ensembl: ENSG00000005471

Variants:

dbSNP: 5244
ClinVar: 5244
TCGA: ENSG00000005471
COSMIC: ABCB4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005471ENST00000265723P21439
ENSG00000005471ENST00000358400P21439
ENSG00000005471ENST00000359206P21439
ENSG00000005471ENST00000417608E7EQI1
ENSG00000005471ENST00000440025H7C0M2
ENSG00000005471ENST00000453593P21439
ENSG00000005471ENST00000643670A0A2R8Y8A1
ENSG00000005471ENST00000644106A0A2R8Y291
ENSG00000005471ENST00000649586P21439

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10804imatinibChemicalClinicalAnnotationassociatedPD30237583
PA130620651anthracyclines and related substancesChemicalClinicalAnnotationassociatedPD21900104, 23441093
PA151958383Gastrointestinal Stromal TumorsDiseaseClinicalAnnotationassociatedPD30237583
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD21900104, 23441093

References

Pubmed IDYearTitleCitations
377870872024A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.1
383745652024Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.0
386100522024Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.0
377870872024A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.1
383745652024Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.0
386100522024Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.0
372127752023MDR3 rs2109505 and rs1202283 polymorphisms are associated with susceptibility to intrahepatic cholestasis of pregnancy: A meta-analysis.0
374887822023Analysis of various ATP-binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC).0
372127752023MDR3 rs2109505 and rs1202283 polymorphisms are associated with susceptibility to intrahepatic cholestasis of pregnancy: A meta-analysis.0
374887822023Analysis of various ATP-binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC).0
343763702022The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series.2
349422792022Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.2
351504762022Mdr3 gene mutation in preterm infants with parenteral nutrition-associated cholestasis.1
352032702022MRCK-Alpha and Its Effector Myosin II Regulatory Light Chain Bind ABCB4 and Regulate Its Membrane Expression.1
352888332022ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.1

Citation

Dessen P

ABCB4 (ATP binding cassette subfamily B member 4)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51280/teaching-explorer/favicon/manifest.json