SLC49A3 (solute carrier family 49 member 3)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 84179
Gene name Solute carrier family 49 member 3
Gene symbol SLC49A3
Synonyms (NCBI Gene)
LP2561MFSD7
Chromosome 4
Chromosome location 4p16.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0016020 Component Membrane IBA
GO:0016020 Component Membrane IEA
GO:0022857 Function Transmembrane transporter activity IEA
GO:0055085 Process Transmembrane transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620318 26177 ENSG00000169026
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UXD7
Protein name Solute carrier family 49 member A3 (Major facilitator superfamily domain-containing protein 7) (Myosin light polypeptide 5 regulatory protein) (MYL5)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 32 → 396 Major Facilitator Superfamily Family
Sequence
Sequence length 560
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
ASTROCYTOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Carcinoma BEFREE 23506900
★★★★★
★☆☆☆☆
Found in Text Mining only
Necrosis Necrosis Pubtator 37782287 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Sarcoma Sarcoma Pubtator 37782287 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only