• Gene id: 94160

Gene Summary

• Gene Symbol: ABCC12   Gene   UCSC   Ensembl
• Aliases: MRP9
• Gene name: ATP binding cassette subfamily C member 12
• Alternate names: multidrug resistance-associated protein 9, ATP-binding cassette sub-family C member 12, ATP-binding cassette transporter sub-family C member 12, ATP-binding cassette, sub-family C (CFTR/MRP), member 12,
• Gene location: 16q12.1 (48146769: 48082972)     Exons: 29     NC_000016.10
• Gene summary(Entrez): 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.
• OMIM: 608546

Protein Summary

• Protein general information: Q96J65  
  • Name: Multidrug resistance associated protein 9 (ATP binding cassette sub family C member 12)
  • Length: 1359  
  • Mass: 152297
  • 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. {ECO
• Sequence:

  MVGEGPYLISDLDQRGRRRSFAERYDPSLKTMIPVRPCARLAPNPVDDAGLLSFATFSWLTPVMVKGYRQRLTVD
  TLPPLSTYDSSDTNAKRFRVLWDEEVARVGPEKASLSHVVWKFQRTRVLMDIVANILCIIMAAIGPVILIHQILQ
  QTERTSGKVWVGIGLCIALFATEFTKVFFWALAWAINYRTAIRLKVALSTLVFENLVSFKTLTHISVGEVLNILS
  SDSYSLFEAALFCPLPATIPILMVFCAAYAFFILGPTALIGISVYVIFIPVQMFMAKLNSAFRRSAILVTDKRVQ
  TMNEFLTCIRLIKMYAWEKSFTNTIQDIRRRERKLLEKAGFVQSGNSALAPIVSTIAIVLTLSCHILLRRKLTAP
  VAFSVIAMFNVMKFSIAILPFSIKAMAEANVSLRRMKKILIDKSPPSYITQPEDPDTVLLLANATLTWEHEASRK
  STPKKLQNQKRHLCKKQRSEAYSERSPPAKGATGPEEQSDSLKSVLHSISFVVRKGKILGICGNVGSGKSSLLAA
  LLGQMQLQKGVVAVNGTLAYVSQQAWIFHGNVRENILFGEKYDHQRYQHTVRVCGLQKDLSNLPYGDLTEIGERG
  LNLSGGQRQRISLARAVYSDRQLYLLDDPLSAVDAHVGKHVFEECIKKTLRGKTVVLVTHQLQFLESCDEVILLE
  DGEICEKGTHKELMEERGRYAKLIHNLRGLQFKDPEHLYNAAMVEAFKESPAEREEDAGIIVLAPGNEKDEGKES
  ETGSEFVDTKVPEHQLIQTESPQEGTVTWKTYHTYIKASGGYLLSLFTVFLFLLMIGSAAFSNWWLGLWLDKGSR
  MTCGPQGNRTMCEVGAVLADIGQHVYQWVYTASMVFMLVFGVTKGFVFTKTTLMASSSLHDTVFDKILKSPMSFF
  DTTPTGRLMNRFSKDMDELDVRLPFHAENFLQQFFMVVFILVILAAVFPAVLLVVASLAVGFFILLRIFHRGVQE
  LKKVENVSRSPWFTHITSSMQGLGIIHAYGKKESCITYHLLYFNCALRWFALRMDVLMNILTFTVALLVTLSFSS
  ISTSSKGLSLSYIIQLSGLLQVCVRTGTETQAKFTSVELLREYISTCVPECTHPLKVGTCPKDWPSRGEITFRDY
  QMRYRDNTPLVLDSLNLNIQSGQTVGIVGRTGSGKSSLGMALFRLVEPASGTIFIDEVDICILSLEDLRTKLTVI
  PQDPVLFVGTVRYNLDPFESHTDEMLWQVLERTFMRDTIMKLPEKLQAEVTENGENFSVGERQLLCVARALLRNS
  KIILLDEATASMDSKTDTLVQNTIKDAFKGCTVLTIAHRLNTVLNCDHVLVMENGKVIEFDKPEVLAEKPDSAFA
  MLLAAEVRL

• Structural information:
  • Protein Domains: (123..40-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (467..70-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (795..108-)
    type-1 (/note="ABC-transmembrane)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR030250  IPR027417  
  • Prosite: PS50929 PS00211 PS50893
  • STRING: ENSP00000311030
• Other Databases: GeneCards:  ABCC12  Malacards:  ABCC12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0055085	transmembrane transport	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq