MFSD6
Major Facilitator Superfamily Domain Containing 6
Gene Information Card
| Symbol | MFSD6 |
|---|---|
| Full Name | Major Facilitator Superfamily Domain Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q32.2 |
| NCBI Gene ID | 54842 ncbi.nlm.nih.gov/gene/54842 |
| Ensembl ID | ENSG00000162931 |
| UniProt ID | Q8N2U9 |
| OMIM ID | 615510 |
| HGNC ID | 24823 |
| Aliases | FLJ20607, MGC131895 |
Description
MFSD6 (Major Facilitator Superfamily Domain Containing 6) is a protein-coding gene located on chromosome 2q32.2. It encodes a member of the major facilitator superfamily (MFS) of transporters, which are involved in the transport of small molecules across membranes. The exact substrate and physiological function of MFSD6 remain under investigation, but it is expressed in various tissues and may play a role in cellular transport processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations have been firmly established | Unknown | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Kidney | 8.5 | Medium |
| Liver | 6.1 | Low |
| Brain | 4.3 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • transmembrane transport | • integral component of membrane |
| • transport |
Pathways
• No specific pathways annotated
Protein Summary
The MFSD6 protein is a predicted multi-pass transmembrane protein belonging to the major facilitator superfamily. It is likely involved in the transport of small solutes across cellular membranes, though its specific substrate and biological role remain to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFSD6 Knockout HEK293 Cell Line | EDJ-KQ12224 | Human | 54842 | Details Get a Quote |
| MFSD6L Knockout HEK293 Cell Line | EDJ-KQ14251 | Human | 162387 | Details Get a Quote |
| MFSD6 Knockout HeLa Cell Line | EDJ-KQ17938 | Human | 54842 | Details Get a Quote |
| MFSD6 Knockout A-549 Cell Line | EDJ-KQ40980 | Human | 54842 | Details Get a Quote |
| MFSD6 Knockout HCT 116 Cell Line | EDJ-KQ40981 | Human | 54842 | Details Get a Quote |
| MFSD6L Knockout HeLa Cell Line | EDJ-KQ58836 | Human | 162387 | Details Get a Quote |
| MFSD6L Knockout A-549 Cell Line | EDJ-KQ67323 | Human | 162387 | Details Get a Quote |
| MFSD6L Knockout HCT 116 Cell Line | EDJ-KQ75721 | Human | 162387 | Details Get a Quote |
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