Gene Gene information from NCBI Gene database.
Entrez ID 10166
Gene name Solute carrier family 25 member 15
Gene symbol SLC25A15
Synonyms (NCBI Gene)
D13S327HHHLNC-HCORC1ORNT1
Chromosome 13
Chromosome location 13q14.11
Summary This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and function
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs202247806 C>A,T Pathogenic Coding sequence variant, missense variant
rs1448259297 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
627
miRTarBase ID miRNA Experiments Reference
MIRT016548 hsa-miR-193b-3p Microarray 20304954
MIRT020002 hsa-miR-375 Microarray 20215506
MIRT025968 hsa-miR-7-5p Microarray 19073608
MIRT025968 hsa-miR-7-5p Microarray 17612493
MIRT030568 hsa-miR-24-3p Microarray 19748357
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:0000050 Process Urea cycle TAS 10369256
GO:0000064 Function L-ornithine transmembrane transporter activity EXP 12807890, 12948741
GO:0000064 Function L-ornithine transmembrane transporter activity IBA
GO:0000064 Function L-ornithine transmembrane transporter activity IEA
GO:0000064 Function L-ornithine transmembrane transporter activity TAS 10369256
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603861 10985 ENSG00000102743
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y619
Protein name Mitochondrial ornithine transporter 1 (Solute carrier family 25 member 15)
Protein function Mitochondrial ornithine-citrulline antiporter (Probable) (PubMed:12807890, PubMed:22262851). Catalyzes the exchange between cytosolic ornithine and mitochondrial citrulline plus an H(+), the proton compensates the positive charge of ornithine th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 5 96 Mitochondrial carrier protein Family
PF00153 Mito_carr 102 202 Mitochondrial carrier protein Family
PF00153 Mito_carr 205 298 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in liver, pancreas, testis, lung and small intestine. Lower levels are detected in spleen, kidney, brain and heart. {ECO:0000269|PubMed:12807890}.
Sequence
Sequence length 301
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Urea cycle
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
Cardiac arrhythmia Pathogenic rs1448259297 RCV004526708
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome Pathogenic rs1448259297 RCV004543282
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Likely pathogenic; Pathogenic rs957788324, rs2138056681, rs2138056689, rs1593295876, rs1882233400, rs2138054088, rs2138045649, rs2138057963, rs2138045987, rs2138053997, rs2138056832, rs2546923499, rs1882296805, rs2546920755, rs2546917561
View all (54 more)
RCV001378384
RCV001389189
RCV001386805
RCV001384113
RCV001783757
View all (65 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC25A15-related disorder Likely pathogenic; Pathogenic rs1882296805, rs202247803, rs104894429, rs2546922711 RCV003404032
RCV003421907
RCV003415665
RCV003405794
★★★★☆
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
Abnormal facial shape Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CITRULLINEMIA 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
Acute encephalopathy Encephalopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Apraxia of Phonation Apraxia HPO_DG
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy Pubtator 31843279 Associate
★☆☆☆☆
Found in Text Mining only
Blepharophimosis Blepharophimosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21040551, 35639264 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36205357 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30176945, 34853791 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 30198869 Associate
★☆☆☆☆
Found in Text Mining only