ABCC12: ATP Binding Cassette Subfamily C Member 12
A pseudogene member of the MRP/ABCC subfamily involved in multidrug resistance and transport processes.
Gene Information Card
| Symbol | ABCC12 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily C Member 12 |
| Gene Type | pseudogene |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 94160 ncbi.nlm.nih.gov/gene/94160 |
| Ensembl ID | ENSG00000140798 |
| UniProt ID | Q9H223 |
| OMIM ID | 607041 |
| HGNC ID | 14639 |
| Aliases | MRP9, ABCC12, ATP-binding cassette sub-family C member 12, multidrug resistance-associated protein 9 |
Description
ABCC12 (ATP Binding Cassette Subfamily C Member 12) is a pseudogene located on chromosome 16q12.1. It belongs to the ATP-binding cassette (ABC) transporter superfamily, subfamily C (ABCC/MRP). Although classified as a pseudogene, it is transcribed and may have regulatory roles. It is closely related to ABCC11 and is involved in transport processes, potentially influencing multidrug resistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pseudoxanthoma elasticum (PXE) | ABCC12 is located near ABCC6; mutations in ABCC6 cause PXE, but ABCC12 may modulate phenotype via regulatory interactions. | NCBI Gene, OMIM |
| Multidrug resistance in cancer | ABCC12 pseudogene may regulate ABCC11 expression, affecting drug efflux and resistance. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Not detected |
| Kidney | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.1 | Low expression |
| HeLa | 0.2 | Low expression |
| MCF7 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs17822931 | SNP | 0.5% in East Asian populations | Non-coding; may affect pseudogene regulation |
| c.538G>A | SNV | <0.1% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Not applicable; pseudogene with no known protein product.
Gain of Function (GOF)
Not applicable; pseudogene with no known protein product.
Dominant Negative (DN)
Not applicable; pseudogene with no known protein product.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATPase activity |
| • transmembrane transport | • integral component of membrane |
Pathways
• ABC transporters
• Multidrug resistance
Protein Summary
ABCC12 is a pseudogene and does not encode a functional protein. The UniProt entry Q9H223 is based on computational prediction and is not supported by experimental evidence. The gene is transcribed but likely non-coding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCC12 Knockout HEK293 Cell Line | EDJ-KQ11298 | Human | 94160 | Details Get a Quote |
| ABCC12 Knockout HeLa Cell Line | EDJ-KQ57885 | Human | 94160 | Details Get a Quote |
| ABCC12 Knockout A-549 Cell Line | EDJ-KQ66380 | Human | 94160 | Details Get a Quote |
| ABCC12 Knockout HCT 116 Cell Line | EDJ-KQ74804 | Human | 94160 | Details Get a Quote |
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