SLC49A4 (solute carrier family 49 member 4)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 84925
Gene name Solute carrier family 49 member 4
Gene symbol SLC49A4
Synonyms (NCBI Gene)
DIRC2RCC4
Chromosome 3
Chromosome location 3q21.1
Summary This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants h
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IDA 36456177
GO:0005765 Component Lysosomal membrane IEA
GO:0016020 Component Membrane IBA
GO:0016020 Component Membrane 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
602773 16628 ENSG00000138463
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.
Q96SL1
Protein name Solute carrier family 49 member 4 (Disrupted in renal cancer protein 2) (Disrupted in renal carcinoma protein 2)
Protein function Mediates H(+)-dependent pyridoxine transport.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed in proximal tubular cells of the kidney. Highly expressed in the placenta, brain and heart. {ECO:0000269|PubMed:11912179, ECO:0000269|PubMed:36456177}.
Sequence 
MGSRWSSEEERQPLLGPGLGPGLGASWRSREAAAAALPAAVPGPGRVYGRRWLVLLLFSL
LAFVQGLVWNTWGPIQNSARQAYGFSSWDIALLVLWGPIGFLPCFAFMWLLDKRGLRITV
LLTSFLMVLGTGLRCIPISDLILKRRLIHGGQMLNGLAGPTVMNAAPFLSTTWFSADERA
TATAIASMLSYLGGACAFLVGPLVVPAPNGTSPLLAAESSRAHIKDRIEAVLYAEFGVVC
LIFSATLAYFPPRPPLPPSVAAASQRLSYRRSVCRLLSNFRFLMIALAYAIPLGVFAGWS
GVLDLILTPAHVSQVDAGWIGFWSIVGGCVVGIAMARFADFIRGMLKLILLLLFSGATLS
STWFTLTCLNSITHLPLTTVTLYASCILLGVFLNSSVPIFFELFVETVYPVPEGITCGVV
TFLSNMFMGVLLFFLTFYHTELSWFNWCLPGSCLLSLLLILCFRESYDRLYLDVVVSV
Sequence length 478
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 (3)
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
CONGENITAL HEART MALFORMATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian cancer Benign; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (15)
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
Chromophobe Renal Cell Carcinoma Chromophobe Carcinoma CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Collecting Duct Carcinoma of the Kidney Renal Carcinoma CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 25915846
★★★★★
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Hereditary clear cell renal cell carcinoma Hereditary Renal Carcinoma ORPHANET_DG 11912179, 11996788
★★★★★
★☆☆☆☆
Found in Text Mining only
Hereditary clear cell renal cell carcinoma Hereditary Renal Carcinoma Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 15312748, 31260889
★★★★★
★☆☆☆☆
Found in Text Mining only
Papillary Renal Cell Carcinoma Papillary Renal Carcinoma CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Renal carcinoma Renal Carcinoma BEFREE 14992692
★★★★★
★☆☆☆☆
Found in Text Mining only