Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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

Show/Hide all (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

117

Show/Hide all (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
MIRT037487	hsa-miR-744-5p	CLASH	23622248
MIRT037487	hsa-miR-744-5p	CLASH	23622248
MIRT037303	hsa-miR-877-5p	CLASH	23622248
MIRT052685	hsa-miR-1260b	CLASH	23622248
MIRT052685	hsa-miR-1260b	CLASH	23622248
MIRT1356365	hsa-miR-3074-3p	CLIP-seq
MIRT1356366	hsa-miR-873	CLIP-seq
MIRT2105541	hsa-miR-141	CLIP-seq
MIRT2105542	hsa-miR-1910	CLIP-seq
MIRT2105543	hsa-miR-200a	CLIP-seq
MIRT2105544	hsa-miR-224	CLIP-seq
MIRT2105545	hsa-miR-3065-5p	CLIP-seq
MIRT2105546	hsa-miR-3163	CLIP-seq
MIRT2105547	hsa-miR-3671	CLIP-seq
MIRT2105548	hsa-miR-3685	CLIP-seq
MIRT2105549	hsa-miR-384	CLIP-seq
MIRT2105550	hsa-miR-410	CLIP-seq
MIRT2105551	hsa-miR-421	CLIP-seq
MIRT2105552	hsa-miR-4325	CLIP-seq
MIRT2105553	hsa-miR-450b-5p	CLIP-seq
MIRT2105554	hsa-miR-455-3p	CLIP-seq
MIRT2105555	hsa-miR-4659a-3p	CLIP-seq
MIRT2105556	hsa-miR-4659b-3p	CLIP-seq
MIRT2105557	hsa-miR-4742-5p	CLIP-seq
MIRT2105558	hsa-miR-507	CLIP-seq
MIRT2105559	hsa-miR-513a-5p	CLIP-seq
MIRT2105560	hsa-miR-548c-3p	CLIP-seq
MIRT2105561	hsa-miR-557	CLIP-seq
MIRT2105541	hsa-miR-141	CLIP-seq
MIRT2105542	hsa-miR-1910	CLIP-seq
MIRT2105543	hsa-miR-200a	CLIP-seq
MIRT2105545	hsa-miR-3065-5p	CLIP-seq
MIRT2330046	hsa-miR-3940-5p	CLIP-seq
MIRT2105551	hsa-miR-421	CLIP-seq
MIRT2330047	hsa-miR-4259	CLIP-seq
MIRT2105552	hsa-miR-4325	CLIP-seq
MIRT2330048	hsa-miR-4507	CLIP-seq
MIRT2105553	hsa-miR-450b-5p	CLIP-seq
MIRT2105554	hsa-miR-455-3p	CLIP-seq
MIRT2105555	hsa-miR-4659a-3p	CLIP-seq
MIRT2105556	hsa-miR-4659b-3p	CLIP-seq
MIRT2105558	hsa-miR-507	CLIP-seq
MIRT2105561	hsa-miR-557	CLIP-seq
MIRT2330049	hsa-miR-571	CLIP-seq
MIRT2330050	hsa-miR-629	CLIP-seq
MIRT2105541	hsa-miR-141	CLIP-seq
MIRT2105543	hsa-miR-200a	CLIP-seq
MIRT2105551	hsa-miR-421	CLIP-seq
MIRT2105552	hsa-miR-4325	CLIP-seq
MIRT2105555	hsa-miR-4659a-3p	CLIP-seq
MIRT2105556	hsa-miR-4659b-3p	CLIP-seq
MIRT2105558	hsa-miR-507	CLIP-seq
MIRT2105561	hsa-miR-557	CLIP-seq
MIRT2433228	hsa-miR-4503	CLIP-seq
MIRT2433229	hsa-miR-451b	CLIP-seq
MIRT2433230	hsa-miR-4738-3p	CLIP-seq
MIRT2624219	hsa-miR-101	CLIP-seq
MIRT2624220	hsa-miR-139-5p	CLIP-seq
MIRT2105541	hsa-miR-141	CLIP-seq
MIRT2624221	hsa-miR-144	CLIP-seq
MIRT2105542	hsa-miR-1910	CLIP-seq
MIRT2105543	hsa-miR-200a	CLIP-seq
MIRT2105545	hsa-miR-3065-5p	CLIP-seq
MIRT1356365	hsa-miR-3074-3p	CLIP-seq
MIRT2105546	hsa-miR-3163	CLIP-seq
MIRT2105547	hsa-miR-3671	CLIP-seq
MIRT2105548	hsa-miR-3685	CLIP-seq
MIRT2105549	hsa-miR-384	CLIP-seq
MIRT2105550	hsa-miR-410	CLIP-seq
MIRT2105551	hsa-miR-421	CLIP-seq
MIRT2105552	hsa-miR-4325	CLIP-seq
MIRT2433228	hsa-miR-4503	CLIP-seq
MIRT2105553	hsa-miR-450b-5p	CLIP-seq
MIRT2433229	hsa-miR-451b	CLIP-seq
MIRT2105554	hsa-miR-455-3p	CLIP-seq
MIRT2105555	hsa-miR-4659a-3p	CLIP-seq
MIRT2105556	hsa-miR-4659b-3p	CLIP-seq
MIRT2433230	hsa-miR-4738-3p	CLIP-seq
MIRT2105558	hsa-miR-507	CLIP-seq
MIRT2624222	hsa-miR-548n	CLIP-seq
MIRT2624223	hsa-miR-548t	CLIP-seq
MIRT2105561	hsa-miR-557	CLIP-seq
MIRT1356366	hsa-miR-873	CLIP-seq
MIRT2624224	hsa-miR-944	CLIP-seq
MIRT2624219	hsa-miR-101	CLIP-seq
MIRT2624220	hsa-miR-139-5p	CLIP-seq
MIRT2105541	hsa-miR-141	CLIP-seq
MIRT2624221	hsa-miR-144	CLIP-seq
MIRT2105542	hsa-miR-1910	CLIP-seq
MIRT2105543	hsa-miR-200a	CLIP-seq
MIRT2105545	hsa-miR-3065-5p	CLIP-seq
MIRT1356365	hsa-miR-3074-3p	CLIP-seq
MIRT2105546	hsa-miR-3163	CLIP-seq
MIRT2105547	hsa-miR-3671	CLIP-seq
MIRT2105548	hsa-miR-3685	CLIP-seq
MIRT2105549	hsa-miR-384	CLIP-seq
MIRT2105550	hsa-miR-410	CLIP-seq
MIRT2105551	hsa-miR-421	CLIP-seq
MIRT2105552	hsa-miR-4325	CLIP-seq
MIRT2433228	hsa-miR-4503	CLIP-seq
MIRT2105553	hsa-miR-450b-5p	CLIP-seq
MIRT2433229	hsa-miR-451b	CLIP-seq
MIRT2105554	hsa-miR-455-3p	CLIP-seq
MIRT2105555	hsa-miR-4659a-3p	CLIP-seq
MIRT2105556	hsa-miR-4659b-3p	CLIP-seq
MIRT2433230	hsa-miR-4738-3p	CLIP-seq
MIRT2105558	hsa-miR-507	CLIP-seq
MIRT2624222	hsa-miR-548n	CLIP-seq
MIRT2624223	hsa-miR-548t	CLIP-seq
MIRT2105561	hsa-miR-557	CLIP-seq
MIRT1356366	hsa-miR-873	CLIP-seq
MIRT2624224	hsa-miR-944	CLIP-seq

Show/Hide all (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
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8168843
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS	8144629
GO:0005886	Component	Plasma membrane	TAS	8144629
GO:0015293	Function	Symporter activity	IEA
GO:0015317	Function	Phosphate:proton symporter activity	ISS
GO:0015317	Function	Phosphate:proton symporter activity	TAS	8144629
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0035435	Process	Phosphate ion transmembrane transport	IBA
GO:0044877	Function	Protein-containing complex binding	IDA	23209302
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1990547	Process	Mitochondrial phosphate ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
600370	10989	ENSG00000075415

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

MFSSVAHLARANPFNTPHLQLVHDGLGDLRSSSPGPTGQPRRPRNLAAAAVEEQYSCDYG
SGRFFILCGLGGIISCGTTHTALVPLDLVKCRMQVDPQKYKGIFNGFSVTLKEDGVRGLA
KGWAPTFLGYSMQGLCKFGFYEVFKVLYSNMLGEENTYLWRTSLYLAASASAEFFADIAL
APMEAAKVRIQTQPGYANTLRDAAPKMYKEEGLKAFYKGVAPLWMRQIPYTMMKFACFER
TVEALYKFVVPKPRSECSKPEQLVVTFVAGYIAGVFCAIVSHPADSVVSVLNKEKGSSAS
LVLKRLGFKGVWKGLFARIIMIGTLTALQWFIYDSVKVYFRLPRPPPPEMPESLKKKLGL
TQ

Sequence length

362

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy-hypotonia-lactic acidosis syndrome	Likely pathogenic; Pathogenic	rs745305932, rs104894375, rs2097597579, rs2097595072	RCV001255139 RCV000009720 RCV001255138 RCV001255140

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Likely benign	rs368847477	RCV005935059
SLC25A3-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs113045059, rs778422136, rs373128658, rs370367708	RCV003925270 RCV003981157 RCV003902512 RCV003892335

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Muscle Hypotonia	Associate	17273968
Renal Insufficiency	Associate	33615715
Ventricular Dysfunction Left	Associate	39671292

SLC25A3 (solute carrier family 25 member 3)