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ABCB4 (ATP binding cassette subfamily B member 4)

Gene

ATP binding cassette subfamily B member 4

ABCB4

ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3

7

7q21.12

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

Show/Hide all(1)

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

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

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