U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See ABCC12 in Genome Data Viewer
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous