Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5250
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 25 member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC25A3
Synonyms (NCBI Gene) Gene synonyms aliases
OK/SW-cl.48, PHC, PTP, PiC
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those f
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894375 G>A Pathogenic Coding sequence variant, intron variant, missense variant
rs745305932 A>G Pathogenic-likely-pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050860 hsa-miR-17-5p CLASH 23622248
MIRT048927 hsa-miR-92a-3p CLASH 23622248
MIRT048032 hsa-miR-148a-3p CLASH 23622248
MIRT043170 hsa-miR-324-5p CLASH 23622248
MIRT039345 hsa-miR-425-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005315 Function Inorganic phosphate transmembrane transporter activity IBA 21873635
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane TAS 8144629
GO:0005887 Component Integral component of plasma membrane TAS 8144629
GO:0015317 Function Phosphate:proton symporter activity TAS 8144629
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600370 10989 ENSG00000075415
Protein
UniProt ID Q00325
Protein name Solute carrier family 25 member 3 (Phosphate carrier protein, mitochondrial) (Phosphate transport protein) (PTP)
Protein function Inorganic ion transporter that transports phosphate or copper ions across the mitochondrial inner membrane into the matrix compartment (By similarity) (PubMed:17273968, PubMed:29237729). Mediates proton-coupled symport of phosphate ions necessar
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 63 152 Mitochondrial carrier protein Family
PF00153 Mito_carr 161 249 Mitochondrial carrier protein Family
PF00153 Mito_carr 259 343 Mitochondrial carrier protein Family
Sequence
Sequence length 362
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy-hypotonia-lactic acidosis syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome rs104894375, rs745305932
Hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377
View all (752 more)
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Low-output congestive heart failure ClinVar
Mitochondrial Diseases mitochondrial disease GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Lactic Associate 17273968, 39671292
Blast Crisis Associate 19654405
Cardiomegaly Associate 39671292
Cardiomyopathy Hypertrophic Associate 17273968, 39671292
Colorectal Neoplasms Inhibit 35924107
Death Associate 17273968, 39671292
Hypertrophy Associate 39671292
Leukemia Myelogenous Chronic BCR ABL Positive Associate 19654405
Mitochondrial Diseases Associate 17273968, 33615715, 39671292
Mitochondrial Phosphate Carrier Deficiency Associate 17273968