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
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:0000166 Function Nucleotide binding IEA
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
cholelithiasis Low phospholipid associated cholelithiasis rs387906528, rs757693457, rs377160065, rs1051861187, rs121918440, rs752563752, rs759202962, rs72552778 N/A
Cholestasis of pregnancy Cholestasis, intrahepatic, of pregnancy, 3 rs759202962, rs72552778, rs1584763429, rs757693457, rs754287486, rs377160065, rs1584665400, rs1584671714, rs387906528, rs1584742063, rs1187517509, rs1584750660, rs121918440, rs1584684209, rs764513998
View all (9 more)
N/A
Intrahepatic Cholestasis progressive familial intrahepatic cholestasis type 3, progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis rs1458423947, rs375315619, rs1562945221, rs1584747270, rs72552778, rs1562976061, rs1584750653, rs757693457, rs754287486, rs377160065, rs387906526, rs121918440, rs387906529, rs1554407511, rs121918443
View all (7 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cholecystitis Cholecystitis N/A N/A GWAS
Intrahepatic Cholestasis Of Pregnancy Intrahepatic cholestasis of pregnancy N/A N/A GWAS
Pancreatitis pancreatitis N/A N/A GenCC
Retinal Dystrophy severe early-childhood-onset retinal dystrophy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
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