Gene Gene information from NCBI Gene database.
Entrez ID 5250
Gene name Solute carrier family 25 member 3
Gene symbol SLC25A3
Synonyms (NCBI Gene)
OK/SW-cl.48PHCPTPPiC
Chromosome 12
Chromosome location 12q23.1
Summary 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.
2
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.
117
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005315 Function Phosphate transmembrane transporter activity IBA
GO:0005315 Function Phosphate transmembrane transporter activity IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600370 10989 ENSG00000075415
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy-hypotonia-lactic acidosis syndrome Likely pathogenic; Pathogenic rs745305932, rs104894375, rs2097597579, rs2097595072 RCV001255139
RCV000009720
RCV001255138
RCV001255140
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
Gastric cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY WITH HYPOTONIA AND LACTIC ACIDOSIS SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE CTD, ClinGen
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 17273968, 39671292 Associate
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 10769629, 25730908
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 10657947
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 28758731
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 22505657
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 31616406
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 26817397
★☆☆☆☆
Found in Text Mining only
Blast Crisis Blast crisis Pubtator 19654405 Associate
★☆☆☆☆
Found in Text Mining only
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 19654405
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 10365916, 10769629, 18183590
★☆☆☆☆
Found in Text Mining only