Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5244
Gene name Gene Name - the full gene name approved by the HGNC.	ATP binding cassette subfamily B member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ABCB4
Synonyms (NCBI Gene) Gene synonyms aliases	ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3
Disease Acronyms (UniProt) Disease acronyms from UniProt database	GBD1, ICP3
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q21.12
Summary Summary of gene provided in NCBI Entrez Gene.	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinc

Show/Hide all(86)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2230029	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs8187802	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs8187808	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs45575636	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs58238559	T>C	Pathogenic, benign, benign-likely-benign	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs61730509	C>T	Uncertain-significance, likely-pathogenic, benign	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs72552778	G>A	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs72552780	G>A,C	Pathogenic	Non coding transcript variant, upstream transcript variant, missense variant, stop gained, genic upstream transcript variant, coding sequence variant
rs121918440	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, stop gained
rs121918441	G>T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918442	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs121918443	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs138773456	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs141677867	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs143456575	A>C,G	Likely-pathogenic, uncertain-significance	Synonymous variant, intron variant, coding sequence variant, missense variant, non coding transcript variant
rs199504845	A>C,G	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs201498350	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs371394487	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs375315619	T>C	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs376926391	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs377160065	G>A	Likely-pathogenic, pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs387906526	TATATAG>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs387906527	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs387906528	CT>TTG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs387906529	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs397514620	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs533310204	G>A,T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs571555115	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs748842753	G>A,C	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs750829010	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs752563752	C>T	Likely-pathogenic	Splice acceptor variant
rs752916287	C>G,T	Uncertain-significance, pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs753104429	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs754287486	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs754565782	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs757693457	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs759202962	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs760153272	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs764513998	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs771437431	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs772823352	C>A	Pathogenic	Splice acceptor variant
rs794727183	C>T	Pathogenic	Splice donor variant
rs863225298	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs863225299	C>T	Uncertain-significance, likely-pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs886042562	G>A	Pathogenic	Stop gained, intron variant, genic downstream transcript variant, coding sequence variant
rs886043725	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886043734	TC>AT	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1037196284	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1051861187	A>G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1187517509	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1245472904	C>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1326932143	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1348606984	T>C,G	Pathogenic	Splice acceptor variant
rs1458423947	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1471180323	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs1554401324	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant, stop gained
rs1554401344	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554407511	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554417376	TTTT>-,TTTTT	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1562945221	->T	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1562949296	C>G	Pathogenic	Splice acceptor variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1562961442	C>T	Pathogenic	Intron variant, splice donor variant
rs1562963055	ACACTGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562965036	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562965098	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562965250	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562975541	TGCGAACCAGGGCA>CCTGAATGG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562976061	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562976167	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562983272	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562983531	T>C	Pathogenic	Splice acceptor variant
rs1562988165	->A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1562989885	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs1563009379	T>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1563012148	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1584665400	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1584671714	->A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1584678508	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1584684209	AT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1584742063	T>G	Likely-pathogenic	Splice acceptor variant
rs1584747270	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1584750653	C>T	Likely-pathogenic	Intron variant
rs1584750660	C>A	Likely-pathogenic	Splice donor variant
rs1584754706	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1584754766	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584763429	G>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant

Transcription factors

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Transcription factor	Regulation	Reference
NR1H4	Activation	14527955

Show/Hide all(45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19674157
GO:0005524	Function	ATP binding	IEA
GO:0005548	Function	Phospholipid transporter activity	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	24045840
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	24045840, 24806754
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	7912658
GO:0005925	Component	Focal adhesion	IDA
GO:0006629	Process	Lipid metabolic process	TAS	7912658
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	TAS	7912658
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IDA	8898203, 19674157
GO:0016887	Function	ATPase activity	IEA
GO:0019216	Process	Regulation of lipid metabolic process	TAS
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0032376	Process	Positive regulation of cholesterol transport	IDA	17523162
GO:0032376	Process	Positive regulation of cholesterol transport	IMP	24045840
GO:0032782	Process	Bile acid secretion	ISS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	17523162
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IMP	8898203
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IBA	21873635
GO:0045121	Component	Membrane raft	IEA
GO:0045332	Process	Phospholipid translocation	IBA	21873635
GO:0045332	Process	Phospholipid translocation	IDA	8898203
GO:0045332	Process	Phospholipid translocation	IMP	24806754
GO:0046581	Component	Intercellular canaliculus	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0055088	Process	Lipid homeostasis	IDA	17523162
GO:0061092	Process	Positive regulation of phospholipid translocation	IDA	17523162
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090554	Function	Phosphatidylcholine floppase activity	IBA	21873635
GO:0090554	Function	Phosphatidylcholine floppase activity	IDA	8898203, 17523162
GO:0090554	Function	Phosphatidylcholine floppase activity	IMP	24045840, 24806754
GO:0090555	Function	Phosphatidylethanolamine flippase activity	IBA	21873635
GO:0099038	Function	Ceramide floppase activity	IDA	8898203
GO:0099040	Process	Ceramide translocation	IDA	8898203
GO:1901557	Process	Response to fenofibrate	ISS
GO:1903413	Process	Cellular response to bile acid	IDA	17523162
GO:2001140	Process	Positive regulation of phospholipid transport	IDA	8898203
GO:2001140	Process	Positive regulation of phospholipid transport	IMP	24045840

MIM	HGNC	e!Ensembl
171060	45	ENSG00000005471

Protein

UniProt ID

P21439

Protein name

Phosphatidylcholine translocator ABCB4 (EC 7.6.2.1) (ATP-binding cassette sub-family B member 4) (Multidrug resistance protein 3) (P-glycoprotein 3)

Protein function

[Isoform 1]: Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of t

PDB

6S7P , 7NIU , 7NIV , 7NIW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00664	ABC_membrane	57 → 345	ABC transporter transmembrane region	Family
PF00005	ABC_tran	412 → 561	ABC transporter	Domain
PF00664	ABC_membrane	711 → 985	ABC transporter transmembrane region	Family
PF00005	ABC_tran	1052 → 1210	ABC transporter	Domain

Sequence

MDLEAAKNGTAWRPTSAEGDFELGISSKQKRKKTKTVKMIGVLTLFRYSDWQDKLFMSLG
TIMAIAHGSGLPLMMIVFGEMTDKFVDTAGNFSFPVNFSLSLLNPGKILEEEMTRYAYYY
SGLGAGVLVAAYIQVSFWTLAAGRQIRKIRQKFFHAILRQEIGWFDINDTTELNTRLTDD
ISKISEGIGDKVGMFFQAVATFFAGFIVGFIRGWKLTLVIMAISPILGLSAAVWAKILSA
FSDKELAAYAKAGAVAEEALGAIRTVIAFGGQNKELERYQKHLENAKEIGIKKAISANIS
MGIAFLLIYASYALAFWYGSTLVISKEYTIGNAMTVFFSILIGAFSVGQAAPCIDAFANA
RGAAYVIFDIIDNNPKIDSFSERGHKPDSIKGNLEFNDVHFSYPSRANVKILKGLNLKVQ
SGQTVALVGSSGCGKSTTVQLIQRLYDPDEGTINIDGQDIRNFNVNYLREIIGVVSQEPV
LFSTTIAENICYGRGNVTMDEIKKAVKEANAYEFIMKLPQKFDTLVGERGAQLSGGQKQR
IAIARALVRNPKILLLDEATSALDTESEAEVQAALDKAREGRTTIVIAHRLSTVRNADVI
AGFEDGVIVEQGSHSELMKKEGVYFKLVNMQTSGSQIQSEEFELNDEKAATRMAPNGWKS
RLFRHSTQKNLKNSQMCQKSLDVETDGLEANVPPVSFLKVLKLNKTEWPYFVVGTVCAIA
NGGLQPAFSVIFSEIIAIFGPGDDAVKQQKCNIFSLIFLFLGIISFFTFFLQGFTFGKAG
EILTRRLRSMAFKAMLRQDMSWFDDHKNSTGALSTRLATDAAQVQGATGTRLALIAQNIA
NLGTGIIISFIYGWQLTLLLLAVVPIIAVSGIVEMKLLAGNAKRDKKELEAAGKIATEAI
ENIRTVVSLTQERKFESMYVEKLYGPYRNSVQKAHIYGITFSISQAFMYFSYAGCFRFGA
YLIVNGHMRFRDVILVFSAIVFGAVALGHASSFAPDYAKAKLSAAHLFMLFERQPLIDSY
SEEGLKPDKFEGNITFNEVVFNYPTRANVPVLQGLSLEVKKGQTLALVGSSGCGKSTVVQ
LLERFYDPLAGTVFVDFGFQLLDGQEAKKLNVQWLRAQLGIVSQEPILFDCSIAENIAYG
DNSRVVSQDEIVSAAKAANIHPFIETLPHKYETRVGDKGTQLSGGQKQRIAIARALIRQP
QILLLDEATSALDTESEKVVQEALDKAREGRTCIVIAHRLSTIQNADLIVVFQNGRVKEH
GTHQQLLAQKGIYFSMVSVQAGTQNL

Sequence length

1286

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Cholelithiasis	low phospholipid associated cholelithiasis, Cholelithiasis	GenCC, GWAS
Pancreatitis	pancreatitis	GenCC
Cholecystitis	Cholecystitis	GWAS
Intrahepatic Cholestasis Of Pregnancy	Intrahepatic Cholestasis Of Pregnancy	GWAS

Show/Hide Text Mining Associations (52)

Disease Name	Relationship Type	References
Associations from Text Mining
Adrenal Insufficiency	Associate	15258199
Antiphospholipid Syndrome	Associate	23619268
Atrial Fibrillation	Associate	25888430
Atrial Flutter	Associate	25888430
Bile Duct Diseases	Associate	40248383
Biliary Tract Diseases	Associate	26789121, 31040306, 36674751
Breast Neoplasms	Associate	17047076
Carcinoma Hepatocellular	Associate	28220208, 32626542
Chemical and Drug Induced Liver Injury	Associate	31568708, 36901890
Cholangitis	Associate	15258199, 37488596
Cholangitis Sclerosing	Associate	31886153
Cholelithiasis	Associate	17273143, 20537830, 23619268, 25612754, 31538484, 32543870, 36111625, 38135884
Cholestasis	Associate	12801961, 15258199, 17241866, 18176959, 19266607, 19998509, 20683201, 21989363, 24914347, 30964181, 31886153, 33757843, 34348275, 35894240, 36397154, 36901890, 40248383 View all (2 more)
Cholestasis Intrahepatic	Associate	17241866, 19998509, 22947535, 24914347, 25593501, 31538484, 34016879, 34348275
Cholestasis progressive familial intrahepatic 1	Associate	29973134, 32321542, 37488596
Cholestasis progressive familial intrahepatic 3	Associate	17273143, 20537830, 21989363, 25533467, 25593501, 27256251, 31000363, 31040306, 31568708, 31728073, 32321542, 32626542, 33256620, 33650203, 33757843 View all (5 more)
Chorea Gravidarum	Associate	35894240
Colic	Associate	23619268, 31538486
Colorectal Neoplasms	Associate	29371412
Dementia Multi Infarct	Associate	2562922
Digestive System Diseases	Associate	36674751, 36901890
Encephalopathy Spastic Tetraparesis and Hypogonadism	Associate	38135884
End Stage Liver Disease	Associate	37488596
Fibrosis	Associate	34348275, 36397154, 37488596
Gallbladder Neoplasms	Associate	32058310
Gallstones	Associate	20537830, 23619268, 40248383
Genetic Diseases Inborn	Associate	36674751
Glioblastoma	Associate	19937796, 24272336
Glioma	Associate	11223551, 35285582
Hepatitis B	Associate	31728073
Hepatitis C Chronic	Associate	22166890, 25544413
Hepatitis Viral Human	Associate	22947535
Intrahepatic Cholestasis of Pregnancy	Associate	12801961, 14527955, 16891356, 17273143, 18176959, 19266607, 21989363, 24366234, 25218883, 28924228, 29973134, 30091450, 30449124, 31538484, 31568708 View all (6 more)
Kidney Calculi	Associate	23619268
Leukemia Lymphocytic Chronic B Cell	Associate	1347708
Lithiasis	Associate	31538484
Liver Cirrhosis	Associate	29390323, 36397154, 36930494, 38135884, 40248383
Liver Cirrhosis Biliary	Associate	17273143, 36397154, 37488596
Liver Diseases	Associate	28220208, 30449124, 31538484, 31886153, 33650203, 34348275, 35150476, 35203270, 35894240, 37208429, 40248383
Liver Failure	Associate	30449124, 36397154
Malnutrition	Associate	35150476
Melanoma	Associate	38226983
Myasthenia Gravis	Associate	25246735
Neoplasms	Stimulate	28061436
Neoplasms	Associate	28220208, 32366480
Neoplasms	Inhibit	29371412
Neoplastic Syndromes Hereditary	Associate	37697751
Pancreatitis	Associate	17273143
Pediatric Obesity	Associate	35150476
Prostatic Neoplasms Castration Resistant	Associate	27883295
Tuberculosis Multidrug Resistant	Associate	25612754
Wilms Tumor	Associate	28061436

ABCB4 (ATP binding cassette subfamily B member 4)