Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
94097
Gene name Gene Name - the full gene name approved by the HGNC.
Sideroflexin 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SFXN5
Synonyms (NCBI Gene) Gene synonyms aliases
BBG-TCC, SLC56A5
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020184 hsa-miR-130b-3p Sequencing 20371350
MIRT028019 hsa-miR-93-5p Sequencing 20371350
MIRT554363 hsa-miR-496 PAR-CLIP 20371350
MIRT554362 hsa-miR-137 PAR-CLIP 20371350
MIRT554360 hsa-miR-4731-3p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 30442778
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615572 16073 ENSG00000144040
Protein
UniProt ID Q8TD22
Protein name Sideroflexin-5
Protein function Mitochondrial amino-acid transporter (By similarity). Transports citrate (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (By similarity) (PubMed:30442778). In brown adipose tissue,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03820 SFXNs 26 340 Sideroflexins Family
Tissue specificity TISSUE SPECIFICITY: Primarily expressed in the brain. {ECO:0000269|PubMed:12039050}.
Sequence
Sequence length 340
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Schizophrenia Schizophrenia N/A N/A GWAS