Gene
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
SNPs SNP information provided by dbSNP.
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
Transcription factors
Transcription factor Regulation Reference
NR1H4 Activation 14527955
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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
MGIAFLLIYASYALAFWYGSTLVISKEYTIGNAMTVFFSILIGAF
SVGQAAPCIDAFANA
RGAAYVIFDIIDNNPKIDSFSERGHKPDSIKGNLEFNDVHFSYPSRANVKILKGLNLKVQ
SGQTVALVGSSGCGKSTTVQLIQRLYDPDEGTINIDGQDIRNFNVNYLREIIGVVSQEPV
LFSTTIAENICYGRGNVTMDEIKKAVKEANAYEFIMKLPQKFDTLVGERGAQLSGGQKQR
IAIARALVRNPKILLLDEATS
ALDTESEAEVQAALDKAREGRTTIVIAHRLSTVRNADVI
AGFEDGVIVEQGSHSELMKKEGVYFKLVNMQTSGSQIQSEEFELNDEKAATRMAPNGWKS
RLFRHSTQKNLKNSQMCQKSLDVETDGLEANVPPVSFLKVLKLNKTEWPYFVVGTVCAIA
NGGLQPAFSVIFSEIIAIFGPGDDAVKQQKCNIFSLIFLFLGIISFFTFFLQGFTFGKAG
EILTRRLRSMAFKAMLRQDMSWFDDHKNSTGALSTRLATDAAQVQGATGTRLALIAQNIA
NLGTGIIISFIYGWQLTLLLLAVVPIIAVSGIVEMKLLAGNAKRDKKELEAAGKIATEAI
ENIRTVVSLTQERKFESMYVEKLYGPYRNSVQKAHIYGITFSISQAFMYFSYAGCFRFGA
YLIVNGHMRFRDVILVFSAIVFGAV
ALGHASSFAPDYAKAKLSAAHLFMLFERQPLIDSY
SEEGLKPDKFEGNITFNEVVFNYPTRANVPVLQGLSLEVKKGQTLALVGSSGCGKSTVVQ
LLERFYDPLAGTVFVDFGFQLLDGQEAKKLNVQWLRAQLGIVSQEPILFDCSIAENIAYG
DNSRVVSQDEIVSAAKAANIHPFIETLPHKYETRVGDKGTQLSGGQKQRIAIARALIRQP
QILLLDEATS
ALDTESEKVVQEALDKAREGRTCIVIAHRLSTIQNADLIVVFQNGRVKEH
GTHQQLLAQKGIYFSMVSVQAGTQNL
Sequence length 1286
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ABC transporters
Bile secretion
  PPARA activates gene expression
ABC-family proteins mediated transport
Defective ABCB4 causes progressive familial intrahepatic cholestasis 3, intrahepatic cholestasis of pregnancy 3 and gallbladder disease 1
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cholelithiasis Cholelithiasis rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Cholestasis of pregnancy Cholestasis of pregnancy, Familial intrahepatic cholestasis of pregnancy rs11568372, rs121918440, rs387906527, rs72552778, rs387906528, rs72552780, rs769910565, rs188824058, rs375315619, rs754287486, rs764513998, rs759202962, rs377160065, rs1562965036, rs764296800
View all (14 more)
23022423
Cholestasis Cholestasis, progressive familial intrahepatic 3, Cholestasis, benign recurrent intrahepatic 1 rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 17726488, 21119540, 27604308, 11313315, 9419367, 22184139, 24594635, 24045840, 12671900, 28012258, 28552422, 24806754, 21056966
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
22294766
Unknown
Disease term Disease name Evidence References Source
Cirrhosis Cirrhosis ClinVar
Pancreatitis Pancreatitis, pancreatitis ClinVar, GenCC
Cholecystitis Cholecystitis GWAS
Intrahepatic Cholestasis Of Pregnancy Intrahepatic Cholestasis Of Pregnancy GWAS
Associations from Text Mining
Disease Name Relationship Type References
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