Major facilitator superfamily domain containing 8 (MFSD8) Associated conditions: 1. Neuronal ceroid lipofuscinosis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001363520.3 | NP_001350449.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001363521.3 | NP_001350450.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001371590.2 | NP_001358519.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001371591.2 | NP_001358520.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001371592.2 | NP_001358521.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001371593.2 | NP_001358522.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001371594.2 | NP_001358523.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001371595.1 | NP_001358524.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_001371596.2 | NP_001358525.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | NM_001410765.1 | NP_001397694.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 11 | REVIEWED | NM_001410766.1 | NP_001397695.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 12 | REVIEWED | NM_001437269.1 | NP_001424198.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 13 | REVIEWED | NM_152778.4 | NP_689991.1 | NC_000004.12 | (127917731..127965962, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Major facilitator superfamily domain containing 8 (MFSD8) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Major facilitator superfamily domain containing 8 (MFSD8)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IBA | enables | chloride channel activity | Function | - |
| 2 | Homo sapiens | IDA | enables | chloride channel activity | Function | 34910516 |
| 3 | Homo sapiens | IEA | enables | chloride channel activity | Function | - |
| 4 | Homo sapiens | IEA | is_active_in | mitochondrion | Component | - |
| 5 | Homo sapiens | IEA | located_in | lysosome | Component | - |
| 6 | Homo sapiens | HDA | located_in | lysosomal membrane | Component | 17897319 |
| 7 | Homo sapiens | IBA | is_active_in | lysosomal membrane | Component | - |
| 8 | Homo sapiens | IDA | located_in | lysosomal membrane | Component | 34910516 |
| 9 | Homo sapiens | IEA | located_in | lysosomal membrane | Component | - |
| 10 | Homo sapiens | IEA | involved_in | monoatomic ion transport | Process | - |
| 11 | Homo sapiens | IEA | involved_in | chloride transport | Process | - |
| 12 | Homo sapiens | IBA | involved_in | lysosome organization | Process | - |
| 13 | Homo sapiens | IDA | located_in | endosome membrane | Component | 34910516 |
| 14 | Homo sapiens | IEA | located_in | endosome membrane | Component | - |
| 15 | Homo sapiens | IBA | enables | iodide transmembrane transporter activity | Function | - |
| 16 | Homo sapiens | IDA | enables | iodide transmembrane transporter activity | Function | 34910516 |
| 17 | Homo sapiens | IEA | involved_in | iodide transport | Process | - |
| 18 | Homo sapiens | IEA | located_in | membrane | Component | - |
| 19 | Homo sapiens | IEA | enables | transmembrane transporter activity | Function | - |
| 20 | Homo sapiens | IEA | involved_in | monoatomic ion transmembrane transport | Process | - |
| 21 | Homo sapiens | IEA | part_of | chloride channel complex | Component | - |
| 22 | Homo sapiens | IEA | involved_in | transmembrane transport | Process | - |
| 23 | Homo sapiens | IDA | enables | fluoride channel activity | Function | 34910516 |
| 24 | Homo sapiens | IBA | involved_in | autophagosome maturation | Process | - |
| 25 | Homo sapiens | IEA | involved_in | chloride transmembrane transport | Process | - |
| 26 | Homo sapiens | IEA | involved_in | fluoride transmembrane transport | Process | - |