SLC49A4 (solute carrier family 49 member 4)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84925
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 49 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC49A4
Synonyms (NCBI Gene) Gene synonyms aliases
DIRC2, RCC4
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0005765 Component Lysosomal membrane IEA
GO:0016021 Component Integral component of membrane IEA
GO:0043231 Component Intracellular membrane-bounded organelle IBA 21873635
GO:0043231 Component Intracellular membrane-bounded organelle IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602773 16628 ENSG00000138463
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Papillary renal carcinoma Papillary Renal Cell Carcinoma rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724
Renal carcinoma Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney rs121913668, rs121913670, rs121913243, rs786202724
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma ClinVar
Hereditary renal carcinoma Hereditary clear cell renal cell carcinoma 11912179, 11996788 ClinVar