Gene table of ABCB4 : ATP binding cassette subfamily B member 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ABCB4	OMIM link	Number of associated genes	genes
602347	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ABCB4
614972	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ABCB4
PS600803	GALLBLADDER DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	ABCG8, ABCB4

Download the gene annotation in CSV format

Annotation of the gene ABCB4

Associated genes in ENSEMBL

ENSG00000005471

Associated proteins - SwissProt Accession ID

P21439

Associated PDB IDs

Cytogenetic Band

7q21.12

Tandem repeats annotation

The gene is in the tandem Group 340, together with the genes:

ABCB1

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

NR1H4

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
ABC transporters	hsa02010	7.28
Bile secretion	hsa04976	6.56

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
PPARA activates gene expression	R-HSA-1989781	6.18
Defective ABCB4 causes progressive familial intrahepatic cholestasis 3, intrahepatic cholestasis of pregnancy 3 and gallbladder disease 1	R-HSA-5678771	12.98
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	R-HSA-400206	6.14
Disorders of transmembrane transporters	R-HSA-5619115	10.66
Metabolism	R-HSA-1430728	2.34
Fatty acid, triacylglycerol, and ketone body metabolism	R-HSA-535734	5.44
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79
ABC transporter disorders	R-HSA-5619084	10.66
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
phospholipid-translocating ATPase activity	GO:0004012	6.97
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
	GO:0090554	9.74
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
phospholipid transporter activity	GO:0005548	5.87
ATPase activity, coupled to transmembrane movement of substances	GO:0042626	5.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
ATPase activity, coupled	GO:0042623	3.97
	GO:0008525	8.64
drug transmembrane transporter activity	GO:0015238	6.85
primary active transmembrane transporter activity	GO:0015399	4.98
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
lipid transporter activity	GO:0005319	5.03
hydrolase activity	GO:0016787	1.9
xenobiotic transporter activity	GO:0042910	7.95
transporter activity	GO:0005215	2.57
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific transporter activity	GO:0022892	2.72
	GO:0008559	8.13
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled to movement of substances	GO:0043492	4.93
adenyl nucleotide binding	GO:0030554	2.4
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine ribonucleoside binding	GO:0032550	2.22
pyrophosphatase activity	GO:0016462	3.04
transmembrane transporter activity	GO:0022857	2.82
adenyl ribonucleotide binding	GO:0032559	2.41
active transmembrane transporter activity	GO:0022804	3.85
protein binding	GO:0005515	0.46
drug transporter activity	GO:0090484	6.69
purine ribonucleotide binding	GO:0032555	2.2
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
ribonucleotide binding	GO:0032553	2.19