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    ABCC12 ATP binding cassette subfamily C member 12 [ Homo sapiens (human) ]

    Gene ID: 94160, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ABCC12provided by HGNC
    Official Full Name
    ATP binding cassette subfamily C member 12provided by HGNC
    Primary source
    HGNC:HGNC:14640
    See related
    Ensembl:ENSG00000140798 MIM:607041; AllianceGenome:HGNC:14640
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRP9
    Summary
    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]
    Expression
    Restricted expression toward testis (RPKM 3.1) See more
    Orthologs
    all
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    Genomic context

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    Location:
    16q12.1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (48080882..48155993, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (53877688..53952799, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (48114793..48189904, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48047095-48047596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:48055144-48055753 Neighboring gene uncharacterized LOC124903686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48150856-48151718 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:48156892-48158091 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:48191888-48193087 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48198931-48199432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48199433-48199932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7452 Neighboring gene Sharpr-MPRA regulatory region 3115 Neighboring gene ATP binding cassette subfamily C member 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10791 Neighboring gene lon peptidase 2, peroxisomal Neighboring gene NANOG hESC enhancer GRCh37_chr16:48317173-48317699 Neighboring gene Sharpr-MPRA regulatory region 13528 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48353112-48353734 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The MRP-related and BCRP/ABCG2 multidrug resistance proteins: biology, substrate specificity and regulation. Haimeur A, et al. Curr Drug Metab, 2004 Feb. PMID 14965249
    2. MRP9, an unusual truncated member of the ABC transporter superfamily, is highly expressed in breast cancer. Bera TK, et al. Proc Natl Acad Sci U S A, 2002 May 14. PMID 12011458, Free PMC Article
    3. Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12. Yabuuchi H, et al. Biochem Biophys Res Commun, 2001 Nov 9. PMID 11688999
    4. Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12. Tammur J, et al. Gene, 2001 Jul 25. PMID 11483364
    5. Multidrug resistance-associated protein 9 (ABCC12) is present in mouse and boar sperm. Ono N, et al. Biochem J, 2007 Aug 15. PMID 17472575, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
      Title: Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. alternative splice variants and gene expression
      Title: Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC27071

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ATP-binding cassette sub-family C member 12
    Names
    ATP-binding cassette transporter sub-family C member 12
    ATP-binding cassette, sub-family C (CFTR/MRP), member 12
    multidrug resistance-associated protein 9

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001392028.1 → NP_001378957.1  ATP-binding cassette sub-family C member 12 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC096996
      Consensus CDS
      CCDS92154.1
      UniProtKB/TrEMBL
      A0A8I5QJT3, B3KV20
      Related
      ENSP00000510388.1, ENST00000528693.6
      Conserved Domains (2) summary
      cd18592
      Location:125 → 411
      ABC_6TM_MRP5_8_9_D1; Six-transmembrane helical domain 1 (TMD1) of multidrug resistance-associated proteins (MRPs) 5, 8, and 9
      cl38936
      Location:486 → 571
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001393797.1 → NP_001380726.1  ATP-binding cassette sub-family C member 12 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC096996
      Consensus CDS
      CCDS92155.1
      UniProtKB/TrEMBL
      A0A8J8YUR7
      Related
      ENSP00000311030.4, ENST00000311303.8
      Conserved Domains (1) summary
      TIGR00957
      Location:43 → 1344
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)

    3. NM_001393798.1 → NP_001380727.1  ATP-binding cassette sub-family C member 12 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC096996
      Consensus CDS
      CCDS92153.1
      UniProtKB/TrEMBL
      A0A8I5KPE2
      Related
      ENSP00000509170.1, ENST00000689320.1
      Conserved Domains (1) summary
      cd03244
      Location:1 → 181
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein

    4. NM_001393799.1 → NP_001380728.1  ATP-binding cassette sub-family C member 12 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC096996
      Conserved Domains (1) summary
      cd03244
      Location:1 → 212
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein

    5. NM_033226.3 → NP_150229.2  ATP-binding cassette sub-family C member 12 isoform 1

      See identical proteins and their annotated locations for NP_150229.2

      Status: REVIEWED

      Source sequence(s)
      AC096996
      UniProtKB/Swiss-Prot
      Q49AL2, Q8TAF0, Q8TEY2, Q96J65
      Conserved Domains (4) summary
      cd03244
      Location:1118 → 1338
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:486 → 678
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:44 → 1336
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:799 → 1070
      ABC_membrane; ABC transporter transmembrane region

    RNA

    1. NR_171628.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC096996

    2. NR_171629.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC096996

    3. NR_171630.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC096996

    4. NR_171631.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC096996

    5. NR_171632.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC096996

    6. NR_171633.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC096996

    7. NR_171634.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC096996

    8. NR_171635.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC096996

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      48080882..48155993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      53877688..53952799 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145187.1: Suppressed sequence

      Description
      NM_145187.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate and it is not supported by current protein homology data.

    2. NM_145188.1: Suppressed sequence

      Description
      NM_145188.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate and it is not supported by current protein homology data.

    3. NM_145189.1: Suppressed sequence

      Description
      NM_145189.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate and it is not supported by current protein homology data.

    4. NM_145190.1: Suppressed sequence

      Description
      NM_145190.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate and it is not supported by current protein homology data.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96J65.2 GenPept UniProtKB/Swiss-Prot:Q96J65

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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