ABCC3 (ATP binding cassette subfamily C member 3)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 8714
Gene name ATP binding cassette subfamily C member 3
Gene symbol ABCC3
Synonyms (NCBI Gene)
ABC31EST90757MLP2MOAT-DMRP3cMOAT2
Chromosome 17
Chromosome location 17q21.33
Summary The 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 distinct subfamilies (ABC1, M
miRNA miRNA information provided by mirtarbase database.
54
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (54)
miRTarBase ID miRNA Experiments Reference
MIRT004155 hsa-miR-192-5p Microarray 16822819
MIRT003824 hsa-miR-197-3p Microarray 16822819
MIRT017472 hsa-miR-335-5p Microarray 18185580
MIRT022500 hsa-miR-124-3p Microarray 18668037
MIRT732841 hsa-miR-379-3p Luciferase reporter assayRNA-seqqRT-PCR 31757862
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (5)
Transcription factor Regulation Reference
RARA Repression 17272513
RXRA Repression 17272513
SOX2 Activation 21531766
SP1 Activation 17272513
SP1 Unknown 10772892
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (48)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 18698235
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
604323 54 ENSG00000108846
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15438
Protein name ATP-binding cassette sub-family C member 3 (EC 7.6.2.-) (EC 7.6.2.2) (EC 7.6.2.3) (Canalicular multispecific organic anion transporter 2) (Multi-specific organic anion transporter D) (MOAT-D) (Multidrug resistance-associated protein 3)
Protein function ATP-dependent transporter of the ATP-binding cassette (ABC) family that binds and hydrolyzes ATP to enable active transport of various substrates including many drugs, toxicants and endogenous compound across cell membranes (PubMed:10359813, Pub
PDB 8HVH , 8HW2 , 8HW4 , 8IZP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00664 ABC_membrane 311 → 582 ABC transporter transmembrane region Family
PF00005 ABC_tran 644 → 779 ABC transporter Domain
PF00664 ABC_membrane 971 → 1240 ABC transporter transmembrane region Family
PF00005 ABC_tran 1306 → 1454 ABC transporter Domain
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in the liver. Also expressed in small intestine, colon, prostate, testis, brain and at a lower level in the kidney. In testis, localized to peritubular myoid cells, Leydig cells, along the basal membrane of Sertoli cel
Sequence 
MDALCGSGELGSKFWDSNLSVHTENPDLTPCFQNSLLAWVPCIYLWVALPCYLLYLRHHC
RGYIILSHLSKLKMVLGVLLWCVSWADLFYSFHGLVHGRAPAPVFFVTPLVVGVTMLLAT
LLIQYERLQGVQSSGVLIIFWFLCVVCAIVPFRSKILLAKAEGEISDPFRFTTFYIHFAL
VLSALILACFREKPPFFSAKNVDPNPYPETSAGFLSRLFFWWFTKMAIYGYRHPLEEKDL
WSLKEEDRSQMVVQQLLEAWRKQEKQTARHKASAAPGKNASGEDEVLLGARPRPRKPSFL
KALLATFGSSFLISACFKLIQDLLSFINPQLLSILIRFISNPMAPSWWGFLVAGLMFLCS
MMQSLILQHYYHYIFVTGVKFRTGIMGVIYRKALVITNSVKRASTVGEIVNLMSVDAQRF
MDLAPFLNLLWSAPLQIILAIYFLWQNLGPSVLAGVAFMVLLIPLNGAVAVKMRAFQVKQ
MKLKDSRIKLMSEILNGIKVLKLYAWEPSFLKQVEGIRQGELQLLRTAAYLHTTTTFTWM
CSPFLVTLITLWVYVYVDPNNVLDAEKAFVSVSLFNILRLPLNMLPQLISNLTQASVSLK
RIQQFLSQEELDPQSVERKTISPGYAITIHSGTFTWAQDLPPTLHSLDIQVPKGALVAVV
GPVGCGKSSLVSALLGEMEKLEGKVHMKGSVAYVPQQAWIQNCTLQENVLFGKALNPKRY
QQTLEACALLADLEMLPGGDQTEIGEKGINLSGGQRQRVSLARAVYSDADIFLLDDPLSA
VDSHVAKHIFDHVIGPEGVLAGKTRVLVTHGISFLPQTDFIIVLADGQVSEMGPYPALLQ
RNGSFANFLCNYAPDEDQGHLEDSWTALEGAEDKEALLIEDTLSNHTDLTDNDPVTYVVQ
KQFMRQLSALSSDGEGQGRPVPRRHLGPSEKVQVTEAKADGALTQEEKAAIGTVELSVFW
DYAKAVGLCTTLAICLLYVGQSAAAIGANVWLSAWTNDAMADSRQNNTSLRLGVYAALGI
LQGFLVMLAAMAMAAGGIQAARVLHQALLHNKIRSPQSFFDTTPSGRILNCFSKDIYVVD
EVLAPVILMLLNSFFNAISTLVVIMASTPLFTVVILPLAVLYTLVQRFYAATSRQLKRLE
SVSRSPIYSHFSETVTGASVIRAYNRSRDFEIISDTKVDANQRSCYPYIISNRWLSIGVE
FVGNCVVLFAALFAVIGRSSLNPGLVGLSVSYSLQVTFALNWMIRMMSDLESNIVAVERV
KEYSKTETEAPWVVEGSRPPEGWPPRGEVEFRNYSVRYRPGLDLVLRDLSLHVHGGEKVG
IVGRTGAGKSSMTLCLFRILEAAKGEIRIDGLNVADIGLHDLRSQLTIIPQDPILFSGTL
RMNLDPFGSYSEEDIWWALELSHLHTFVSSQPAGLDFQCSEGGENLSVGQRQLVCLARAL
LRKSRILVLDEATAAIDLETDNLIQATIRTQFDTCTVLTIAHRLNTIMDYTRVLVLDKGV
VAEFDSPANLIAARGIFYGMARDAGLA
Sequence length 1527
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene SNPs Transcription factors Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, RHEUMATOID — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (150)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 7528566, 7808005
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11849207, 12816874, 21606946, 24145140
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10374860, 11986944, 8075575
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10928127, 7669560
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19949890, 21874222
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16161006
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 12816874, 21606946, 24145140
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Myeloblastic Leukemia Myeloblastic Leukemia BEFREE 11986944
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31378204
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 30532219 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only