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ABCC3 Gene(Protein Coding)

ATP Binding Cassette Subfamily C Member 3

GCID:
GC17P050634
GIFtS:
55
Genes Participants
UDN Logo

Aliases for ABCC3 Gene

Aliases for ABCC3 Gene

  • ATP Binding Cassette Subfamily C Member 3 2 3 5
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 3 2 3
  • Canalicular Multispecific Organic Anion Transporter 2 2 3
  • Multi-Specific Organic Anion Transporter D 3 4
  • ATP-Binding Cassette Sub-Family C Member 3 3 4
  • Multidrug Resistance-Associated Protein 3 3 4
  • CMOAT2 3 4
  • MOAT-D 3 4
  • MLP2 3 4
  • MRP3 3 4
  • Canicular Multispecific Organic Anion Transporter 3
  • Multidrug Resistance Associated Protein 3
  • EC 3.6.3.44 56
  • EC 6.3.2.4 56
  • EST90757 3
  • EC 3.6.3 56
  • ABC31 3

External Ids for ABCC3 Gene

Previous GeneCards Identifiers for ABCC3 Gene

  • GC17P048425
  • GC17P051193
  • GC17P049054
  • GC17P049186
  • GC17P046067
  • GC17P048712
  • GC17P044080

Summaries for ABCC3 Gene

Entrez Gene Summary for ABCC3 Gene

  • 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, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

CIViC summary for ABCC3 Gene

GeneCards Summary for ABCC3 Gene

ABCC3 (ATP Binding Cassette Subfamily C Member 3) is a Protein Coding gene. Diseases associated with ABCC3 include Dubin-Johnson Syndrome and Extrahepatic Cholestasis. Among its related pathways are Vinka Alkaloid Pathway, Pharmacokinetics and Constitutive Androstane Receptor Pathway. Gene Ontology (GO) annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCC2.

UniProtKB/Swiss-Prot for ABCC3 Gene

  • May act as an inducible transporter in the biliary and intestinal excretion of organic anions. Acts as an alternative route for the export of bile acids and glucuronides from cholestatic hepatocytes (By similarity).

Gene Wiki entry for ABCC3 Gene

Additional gene information for ABCC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCC3 Gene

Genomics for ABCC3 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ABCC3 Gene

Promoters and enhancers for ABCC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17I050633 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 569.9 +4.2 4175 10.1 PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B ABCC3 MBTD1 ENSG00000262837 CHAD ENSG00000249451 MYCBPAP CACNA1G CACNA1G-AS1 SPATA20 LOC105371824
GH17I050631 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 555 -1.9 -1939 2 BCOR ZMYM3 EBF1 RELA CTBP1 GATA3 POLR2A EGR1 ADNP VEZF1 ABCC3 LOC101927253
GH17I050683 Enhancer 1.5 Ensembl ENCODE dbSUPER 25.3 +55.8 55765 13.9 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ABCC3 ANKRD40 EPN3 LUC7L3 LOC101927253 SPATA20 LOC105371824 CACNA1G-AS1 ENSG00000250976 CACNA1G
GH17I050659 Enhancer 1.5 Ensembl ENCODE dbSUPER 18 +27.2 27203 4.8 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B GC17P050663 ABCC3 ANKRD40 EME1 LOC101927253 UTP18 NME2 CACNA1G-AS1 CACNA1G EPN3
GH17I050681 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.1 +46.9 46878 1.1 HDGF PKNOX1 ARNT ARID4B SIN3A ZBTB7B ARID2 ZNF207 SP3 SP5 ABCC3 LOC101927253 ANKRD40 SPATA20 EPN3 LOC105371824 MYCBPAP ENSG00000262967 GC17P050663
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCC3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCC3 gene promoter:

Genomic Locations for ABCC3 Gene

Genomic Locations for ABCC3 Gene
chr17:50,634,777-50,692,252
(GRCh38/hg38)
Size:
57,476 bases
Orientation:
Plus strand
chr17:48,712,138-48,769,613
(GRCh37/hg19)

Genomic View for ABCC3 Gene

Genes around ABCC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCC3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ABCC3 Gene

Proteins for ABCC3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ABCC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15438-MRP3_HUMAN
    Recommended name:
    Canalicular multispecific organic anion transporter 2
    Protein Accession:
    O15438
    Secondary Accessions:
    • B2RPA9
    • D3DTX9
    • O60265
    • O60922
    • O75621
    • O95078
    • O95289
    • O95290
    • Q86X85
    • Q9UN52

    Protein attributes for ABCC3 Gene

    Size:
    1527 amino acids
    Molecular mass:
    169343 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB71756.1; Type=Frameshift; Positions=1334, 1338; Evidence={ECO:0000305}; Sequence=AAD01430.1; Type=Frameshift; Positions=355, 359, 361; Evidence={ECO:0000305}; Sequence=AAD38185.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCC3 Gene

Protein Expression for ABCC3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ABCC3 Gene

O15438:
  • SVGQRQL
  • GEIRIDG
  • LSGGQRQRV
  • ASTVGEI

Post-translational modifications for ABCC3 Gene

  • Glycosylation at Asn18, posLast=10061006, and posLast=10071007

Other Protein References for ABCC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ABCC3 Gene

Gene Families for ABCC3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABCC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15438

UniProtKB/Swiss-Prot:

MRP3_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
Family:
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
genes like me logo Genes that share domains with ABCC3: view

Function for ABCC3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ABCC3 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily C (CFTR/MRP),member 3,expressed in liver,colon,small intestine and prostate,involved in the adrenal glands,biliary and intestinal excretion of organic anions
UniProtKB/Swiss-Prot Function:
May act as an inducible transporter in the biliary and intestinal excretion of organic anions. Acts as an alternative route for the export of bile acids and glucuronides from cholestatic hepatocytes (By similarity).

Enzyme Numbers (IUBMB) for ABCC3 Gene

Gene Ontology (GO) - Molecular Function for ABCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005524 ATP binding IEA --
GO:0008514 organic anion transmembrane transporter activity TAS 9738950
GO:0008559 xenobiotic transmembrane transporting ATPase activity IBA --
GO:0015432 bile acid-exporting ATPase activity TAS --
genes like me logo Genes that share ontologies with ABCC3: view
genes like me logo Genes that share phenotypes with ABCC3: view

Animal Models for ABCC3 Gene

MGI Knock Outs for ABCC3:

Animal Model Products

miRNA for ABCC3 Gene

miRTarBase miRNAs that target ABCC3

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCC3 Gene

Localization for ABCC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCC3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCC3 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,TAS --
GO:0016020 membrane IEA,TAS 9813153
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IBA --
genes like me logo Genes that share ontologies with ABCC3: view

Pathways & Interactions for ABCC3 Gene

genes like me logo Genes that share pathways with ABCC3: view

Gene Ontology (GO) - Biological Process for ABCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9813153
GO:0006855 drug transmembrane transport IBA --
GO:0015721 bile acid and bile salt transport TAS --
GO:0015722 canalicular bile acid transport ISS --
GO:0042908 xenobiotic transport IBA --
genes like me logo Genes that share ontologies with ABCC3: view

No data available for SIGNOR curated interactions for ABCC3 Gene

Drugs & Compounds for ABCC3 Gene

Products:

  1. Drug

(52) Drugs for ABCC3 Gene - From: DrugBank, PharmGKB, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Transporter, inducer Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
Doxorubicin Approved, Investigational Pharma Transporter, inhibitor Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1828
Methotrexate Approved Pharma Transporter, substrate, inhibitor Folate antagonist,inhibits DFHR 1603
Vincristine Approved, Investigational Pharma Transporter, inhibitor Microtubule disrupter,antitumor agent 965
Etoposide Approved Pharma Transporter, substrate, inhibitor Topo II inhibitor, Topoisomerase 2 Inhibitors 1302

(99) Additional Compounds for ABCC3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • Chenodeoxycholic acid 3-glucuronide
  • Chenodeoxycholic acid-3-b-D-glucuronide
  • Chenodeoxycholic acid-3-beta-delta-glucuronide
 58814-71-4
1,3,12-Trihydroxycholan-24-oic acid
  • 1,3,12-Trihydroxy-5b-Cholanoate
  • 1,3,12-Trihydroxy-5b-Cholanoic acid
  • 1,3,12-Trihydroxy-Cholan-24-oate
  • 1,3,12-Trihydroxy-Cholan-24-oic acid
  • 1,3,12-Trihydroxycholan-24-oate
 63266-91-1
1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxy-Cholan-24-oate
  • 1,3,7,12-Tetrahydroxy-Cholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholan-24-oate
  • 1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholanoate
 63266-89-7
12a-Hydroxy-3-oxocholadienic acid
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-oate
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-oic acid
  • 12a-Hydroxy-3-oxo-Chola-4,6-dienate
  • 12a-Hydroxy-3-oxo-Chola-4,6-dienic acid
  • 12a-Hydroxy-3-oxochola-4,6-dienate
 13535-96-1
12b-Hydroxy-5b-cholanoic acid
  • 12-Hydroxy-(5b,12b)-Cholan-24-oate
  • 12-Hydroxy-(5b,12b)-Cholan-24-oic acid
  • 12b-Hydroxy-5b-Cholan-24-oate
  • 12b-Hydroxy-5b-Cholan-24-oic acid
  • 12b-Hydroxy-5b-cholanic acid
 15173-23-6
genes like me logo Genes that share compounds with ABCC3: view

Transcripts for ABCC3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ABCC3 Gene

(11) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(233) Selected AceView cDNA sequences:
(18) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ABCC3 Gene

ATP-binding cassette, sub-family C (CFTR/MRP), member 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCC3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a ·
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 20b ^ 21 ^ 22 ^ 23a · 23b · 23c · 23d ^ 24a · 24b · 24c ^ 25 ^ 26a · 26b · 26c ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33a · 33b ^
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5: -
SP6: - -
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12: - -
SP13:
SP14:
SP15:
SP16:

ExUns: 34 ^ 35a · 35b · 35c ^ 36 ^ 37a · 37b · 37c · 37d
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16:

Relevant External Links for ABCC3 Gene

GeneLoc Exon Structure for
ABCC3
ECgene alternative splicing isoforms for
ABCC3

Expression for ABCC3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCC3 Gene

mRNA expression in normal human tissues for ABCC3 Gene
mRNA expression by GTEx for ABCC3 GenemRNA expression by BioGPS for ABCC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCC3 Gene

This gene is overexpressed in Adrenal Gland (x9.2), Liver (x7.7), Colon - Transverse (x5.6), and Pancreas (x4.2).

Protein differential expression in normal tissues from HIPED for ABCC3 Gene

This gene is overexpressed in Islet of Langerhans (27.8), Pancreas (10.9), and Adrenal (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ABCC3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABCC3 Gene:

ABCC3

SOURCE GeneReport for Unigene cluster for ABCC3 Gene:

Hs.463421

mRNA Expression by UniProt/SwissProt for ABCC3 Gene:

O15438-MRP3_HUMAN
Tissue specificity: Mainly expressed in the liver. Also expressed in small intestine, colon, prostate, testis, brain and at a lower level in the kidney.

Evidence on tissue expression from TISSUES for ABCC3 Gene

  • Liver(4.7)
  • Blood(4.5)
  • Intestine(3.5)
  • Kidney(2.3)
  • Gall bladder(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with ABCC3: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCC3 Gene

Orthologs for ABCC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ABCC3 34 33
  • 94.78 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ABCC3 34 33
  • 86.33 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ABCC3 33 34
  • 85.92 (n)
mouse
(Mus musculus)
 Mammalia Abcc3 16 34 33
  • 82.45 (n)
rat
(Rattus norvegicus)
 Mammalia Abcc3 33
  • 81.65 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 77 (a)
 OneToMany
-- 34
  • 70 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia ABCC3 34
  • 61 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ABCC3 34 33
  • 67.8 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ABCC3 34
  • 68 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia abcc3 33
  • 64.87 (n)
zebrafish
(Danio rerio)
 Actinopterygii ABCC3 34
  • 62 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta MRP 33
  • 57.2 (n)
CG6214 35
  • 47 (a)
Sur 35
  • 45 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009835 33
  • 53.5 (n)
worm
(Caenorhabditis elegans)
 Secernentea mrp-7 35 33
  • 49.48 (n)
mrp-2 35
  • 45 (a)
mrp-8 35
  • 42 (a)
cft-1 34
  • 24 (a)
 ManyToMany
C18C4.2 35
  • 23 (a)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AGR047W 33
  • 48.26 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F20075g 33
  • 47.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YCF1 33 34
  • 46.78 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons MRP10 33
  • 45.58 (n)
rice
(Oryza sativa)
 Liliopsida Os04g0209200 33
  • 48.35 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU09012 33
  • 51.85 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes abc2 33
  • 46.4 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 34 (a)
 OneToMany
Species where no ortholog for ABCC3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCC3 Gene

ENSEMBL:
Gene Tree for ABCC3 (if available)
TreeFam:
Gene Tree for ABCC3 (if available)

Paralogs for ABCC3 Gene

Variants for ABCC3 Gene

Sequence variations from dbSNP and Humsavar for ABCC3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000017617 -- 50,669,867(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000035374 -- 50,634,916(+) T/C 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1000088582 -- 50,661,968(+) A/G intron_variant
rs1000164889 -- 50,653,358(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000192556 -- 50,643,864(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCC3 Gene

Variant ID Type Subtype PubMed ID
dgv42n68 CNV loss 17160897
esv2716038 CNV deletion 23290073
nsv2083 CNV insertion 18451855
nsv833477 CNV loss 17160897

Variation tolerance for ABCC3 Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.81; 73.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCC3 Gene

Human Gene Mutation Database (HGMD)
ABCC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCC3 Gene

Disorders for ABCC3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ABCC3 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dubin-johnson syndrome
  • djs
extrahepatic cholestasis
  • extrahepatic biliary stasis
cholangiolocellular carcinoma
cholestasis
  • bile occlusion
bile duct carcinoma
  • carcinoma of extrahepatic bile duct
- elite association - COSMIC cancer census association via MalaCards
Search ABCC3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCC3 Gene

Publications for ABCC3 Gene

  1. Characterization of MOAT-C and MOAT-D, new members of the MRP/cMOAT subfamily of transporter proteins. (PMID: 9827529) Belinsky MG … Kruh GD (Journal of the National Cancer Institute 1998) 2 3 4 22 58
  2. Functional reconstitution of human ABCC3 into proteoliposomes reveals a transport mechanism with positive cooperativity. (PMID: 19334674) Zehnpfennig B … Galla HJ (Biochemistry 2009) 3 22 25 58
  3. Genetic variations of the ABC transporter gene ABCC3 in a Japanese population. (PMID: 17495421) Fukushima-Uesaka H … Sawada J (Drug metabolism and pharmacokinetics 2007) 3 22 44 58
  4. Transport of glyburide by placental ABC transporters: implications in fetal drug exposure. (PMID: 16460798) Gedeon C … Piquette-Miller M (Placenta 2006) 3 22 25 58
  5. Transport of bile acids in multidrug-resistance-protein 3-overexpressing cells co-transfected with the ileal Na+-dependent bile-acid transporter. (PMID: 12220224) Zelcer N … Borst P (The Biochemical journal 2003) 3 22 25 58

Products for ABCC3 Gene

Sources for ABCC3 Gene