Gene Gene information from NCBI Gene database.
Entrez ID 54842
Gene name Major facilitator superfamily domain containing 6
Gene symbol MFSD6
Synonyms (NCBI Gene)
MMR2SLC73A1hMMR2
Chromosome 2
Chromosome location 2q32.2
miRNA miRNA information provided by mirtarbase database.
273
miRTarBase ID miRNA Experiments Reference
MIRT019038 hsa-miR-335-5p Microarray 18185580
MIRT027391 hsa-miR-101-3p Sequencing 20371350
MIRT038299 hsa-miR-130b-5p CLASH 23622248
MIRT717015 hsa-miR-5587-3p HITS-CLIP 19536157
MIRT717014 hsa-miR-660-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0016020 Component Membrane HDA 19946888
GO:0016020 Component Membrane IEA
GO:0042590 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613476 24711 ENSG00000151690
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZSS7
Protein name Major facilitator superfamily domain-containing protein 6 (Macrophage MHC class I receptor 2 homolog)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12832 MFS_1_like 68 605 MFS_1 like family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expression levels in peripheral blood mononuclear cells are highly variable between individuals, including no expression at all. {ECO:0000269|PubMed:20123006}.
Sequence
Sequence length 791
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations