MFSD6L
Major Facilitator Superfamily Domain Containing 6 Like
Gene Information Card
| Symbol | MFSD6L |
|---|---|
| Full Name | Major Facilitator Superfamily Domain Containing 6 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 162979 ncbi.nlm.nih.gov/gene/162979 |
| Ensembl ID | ENSG00000185340 |
| UniProt ID | Q5T7M4 |
| OMIM ID | 617787 |
| HGNC ID | 26713 |
| Aliases | MFSD6-like, FLJ38973 |
Description
MFSD6L (Major Facilitator Superfamily Domain Containing 6 Like) is a protein-coding gene located on chromosome 3q29. It encodes a member of the major facilitator superfamily (MFS) of transporters, which typically function in the transport of small molecules across membranes. The specific substrate and physiological role of MFSD6L remain under investigation, but it is predicted to be involved in transmembrane transport processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 2.1 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.8 | Low expression |
| K562 | 0.5 | Very low |
| HeLa | 0.3 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | 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 (GO:0055085) | • integral component of membrane (GO:0016021) |
Protein Summary
The MFSD6L protein (UniProt Q5T7M4) is a predicted multi-pass membrane protein belonging to the major facilitator superfamily. It contains 12 transmembrane helices typical of MFS transporters. Its exact transport substrate and biological function have not been experimentally characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFSD6L Knockout HEK293 Cell Line | EDJ-KQ14251 | Human | 162387 | 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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