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Aliases for ABCC12 Gene

Aliases for ABCC12 Gene

  • ATP Binding Cassette Subfamily C Member 12 2 3 5
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 12 2 3
  • ATP-Binding Cassette Sub-Family C Member 12 3 4
  • MRP9 3 4
  • ATP-Binding Cassette Transporter Sub-Family C Member 12 3
  • Multidrug Resistance-Associated Protein 9 3

External Ids for ABCC12 Gene

Previous GeneCards Identifiers for ABCC12 Gene

  • GC16M038531
  • GC16M048165
  • GC16M047854
  • GC16M047894
  • GC16M046674
  • GC16M034007

Summaries for ABCC12 Gene

Entrez Gene Summary for ABCC12 Gene

  • This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCC12 Gene

ABCC12 (ATP Binding Cassette Subfamily C Member 12) is a Protein Coding gene. Diseases associated with ABCC12 include Dubin-Johnson Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCC11.

UniProtKB/Swiss-Prot for ABCC12 Gene

  • Probable transporter.

Gene Wiki entry for ABCC12 Gene

Additional gene information for ABCC12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCC12 Gene

Genomics for ABCC12 Gene

GeneHancer (GH) Regulatory Elements for ABCC12 Gene

Promoters and enhancers for ABCC12 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
GH16J048156 Enhancer 1 Ensembl ENCODE 650.7 -0.9 -870 0.6 ELF3 RB1 ARID4B SIN3A IRF4 ZNF48 RAD21 ZNF335 ARID2 ZNF143 ABCC12 LONP2 ENSG00000261538
GH16J048155 Promoter 0.6 EPDnew 650.7 +0.0 5 0.1 EBF1 ABCC12 ENSG00000261017
GH16J048091 Promoter 0.5 EPDnew 650.2 +64.8 64777 0.1 ABCC12 ENSG00000261017
GH16J048121 Enhancer 1 Ensembl ENCODE 11.7 +32.6 32587 3.1 BATF IRF4 YY1 EGR1 RCOR1 FOS ETV6 ATF7 IKZF2 RUNX3 ABCC12 LONP2 ENSG00000261017
GH16J048117 Enhancer 0.7 ENCODE 11.4 +38.4 38363 0.2 CTCF ESRRA RB1 ZIC2 ZNF2 IRF4 ZNF48 RBPJ RAD21 ZFHX2 ABCC12 NETO2 ENSG00000261017
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCC12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCC12 gene promoter:
  • Gfi-1
  • Spz1
  • AML1a
  • GATA-1
  • NF-1/L
  • AREB6
  • NF-1
  • aMEF-2
  • MEF-2A
  • AhR

Genomic Locations for ABCC12 Gene

Genomic Locations for ABCC12 Gene
chr16:48,082,973-48,156,018
(GRCh38/hg38)
Size:
73,046 bases
Orientation:
Minus strand
chr16:48,116,884-48,189,929
(GRCh37/hg19)
Size:
73,046 bases
Orientation:
Minus strand

Genomic View for ABCC12 Gene

Genes around ABCC12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCC12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCC12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCC12 Gene

Proteins for ABCC12 Gene

  • Protein details for ABCC12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96J65-MRP9_HUMAN
    Recommended name:
    Multidrug resistance-associated protein 9
    Protein Accession:
    Q96J65
    Secondary Accessions:
    • Q49AL2
    • Q8TAF0
    • Q8TEY2

    Protein attributes for ABCC12 Gene

    Size:
    1359 amino acids
    Molecular mass:
    152297 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABCC12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCC12 Gene

Post-translational modifications for ABCC12 Gene

  • Glycosylation at posLast=981981, posLast=540540, posLast=438438, and Asn405
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABCC12 Gene

Domains & Families for ABCC12 Gene

Gene Families for ABCC12 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

Q96J65

UniProtKB/Swiss-Prot:

MRP9_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 ABCC12: view

Function for ABCC12 Gene

Molecular function for ABCC12 Gene

UniProtKB/Swiss-Prot Function:
Probable transporter.

Phenotypes From GWAS Catalog for ABCC12 Gene

Gene Ontology (GO) - Molecular Function for ABCC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA,IBA --
genes like me logo Genes that share ontologies with ABCC12: view
genes like me logo Genes that share phenotypes with ABCC12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCC12

miRNA for ABCC12 Gene

miRTarBase miRNAs that target ABCC12

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABCC12 Gene

Localization for ABCC12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCC12 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 ABCC12 gene
Compartment Confidence
plasma membrane 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for ABCC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0016020 membrane IBA,IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCC12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCC12 Gene

Pathways & Interactions for ABCC12 Gene

genes like me logo Genes that share pathways with ABCC12: view

Pathways by source for ABCC12 Gene

1 KEGG pathway for ABCC12 Gene

Gene Ontology (GO) - Biological Process for ABCC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport IBA,IEA --
genes like me logo Genes that share ontologies with ABCC12: view

No data available for SIGNOR curated interactions for ABCC12 Gene

Drugs & Compounds for ABCC12 Gene

No Compound Related Data Available

Transcripts for ABCC12 Gene

mRNA/cDNA for ABCC12 Gene

Unigene Clusters for ABCC12 Gene

ATP-binding cassette, sub-family C (CFTR/MRP), member 12:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCC12 Gene

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

ExUns: 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b · 30c
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ABCC12 Gene

GeneLoc Exon Structure for
ABCC12
ECgene alternative splicing isoforms for
ABCC12

Expression for ABCC12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCC12 Gene

mRNA differential expression in normal tissues according to GTEx for ABCC12 Gene

This gene is overexpressed in Testis (x21.7), Brain - Cortex (x8.3), Brain - Frontal Cortex (BA9) (x6.5), and Brain - Anterior cingulate cortex (BA24) (x4.8).

Protein differential expression in normal tissues from HIPED for ABCC12 Gene

This gene is overexpressed in Heart (46.3) and Plasma (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCC12 Gene



Protein tissue co-expression partners for ABCC12 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCC12 Gene:

ABCC12

SOURCE GeneReport for Unigene cluster for ABCC12 Gene:

Hs.410111

mRNA Expression by UniProt/SwissProt for ABCC12 Gene:

Q96J65-MRP9_HUMAN
Tissue specificity: Expressed in testis (at protein level). Widely expressed at low level. Isoform 5 is specifically expressed in brain, testis and breast cancer cells.

Evidence on tissue expression from TISSUES for ABCC12 Gene

  • Liver(4.3)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with ABCC12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCC12 Gene

Orthologs for ABCC12 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCC12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCC12 34 33
  • 98.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABCC12 34 33
  • 88.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABCC12 34 33
  • 88.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abcc12 16 34 33
  • 84.5 (n)
rat
(Rattus norvegicus)
Mammalia Abcc12 33
  • 83.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCC12 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCC12 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCC12 34
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii abcc12 34 33
  • 59.48 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sur 34 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Cin.6538 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6538 33
Species where no ortholog for ABCC12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABCC12 Gene

ENSEMBL:
Gene Tree for ABCC12 (if available)
TreeFam:
Gene Tree for ABCC12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCC12: view image

Paralogs for ABCC12 Gene

Paralogs for ABCC12 Gene

(20) SIMAP similar genes for ABCC12 Gene using alignment to 3 proteins:

  • MRP9_HUMAN
  • B4DYN2_HUMAN
  • E9PHY2_HUMAN
genes like me logo Genes that share paralogs with ABCC12: view

Variants for ABCC12 Gene

Sequence variations from dbSNP and Humsavar for ABCC12 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000029876 -- 48,106,572(-) CTCTCT/CT intron_variant
rs1000092602 -- 48,096,988(-) G/A intron_variant
rs1000126342 -- 48,140,097(-) G/C intron_variant
rs1000245431 -- 48,089,845(-) G/T intron_variant
rs1000269246 -- 48,134,067(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCC12 Gene

Variant ID Type Subtype PubMed ID
esv2658965 CNV deletion 23128226
esv2761906 CNV loss 21179565
nsv520355 CNV gain 19592680

Variation tolerance for ABCC12 Gene

Residual Variation Intolerance Score: 96.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.76; 89.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCC12 Gene

Human Gene Mutation Database (HGMD)
ABCC12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCC12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCC12 Gene

Disorders for ABCC12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABCC12 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
dubin-johnson syndrome
  • djs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ABCC12

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 ABCC12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCC12 Gene

Publications for ABCC12 Gene

  1. MRP9, an unusual truncated member of the ABC transporter superfamily, is highly expressed in breast cancer. (PMID: 12011458) Bera TK … Pastan I (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 22 58
  2. Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12. (PMID: 11483364) Tammur J … Allikmets R (Gene 2001) 2 3 4 58
  3. Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12. (PMID: 11688999) Yabuuchi H … Ishikawa T (Biochemical and biophysical research communications 2001) 3 4 22 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for ABCC12 Gene

Sources for ABCC12 Gene

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