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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
448
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiac arrhythmia Pathogenic rs1448259297 RCV004526708
Hereditary breast ovarian cancer syndrome Pathogenic rs1448259297 RCV004543282
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
RCV001959586
RCV001967854
RCV001994568
RCV001898279
RCV002045445
RCV001994702
RCV002302540
RCV003041189
RCV002761028
RCV002741706
RCV002863632
RCV000006358
RCV000006359
RCV000006360
RCV000006361
RCV000006362
RCV000006363
RCV000006364
RCV000006365
RCV000006366
RCV003054285
RCV003228210
RCV003234619
RCV003615957
RCV003472822
RCV003472823
RCV003472824
RCV003472826
RCV003472827
RCV003472828
RCV003472829
RCV003472830
RCV003472833
RCV003472834
RCV003472835
RCV003472836
RCV003506026
RCV003506256
RCV003504731
RCV003505618
RCV003616614
RCV003616722
RCV003616841
RCV003616885
RCV003615700
RCV003882005
RCV004573613
RCV004573615
RCV004573616
RCV001203232
RCV001235689
RCV000031951
RCV000031953
RCV000031955
RCV001382896
RCV000688200
RCV000812857
RCV000806204
RCV001062874
RCV001056074
RCV001070913
RCV001113456
RCV001222424
RCV001224690
RCV001250167
SLC25A15-related disorder Likely pathogenic; Pathogenic rs1882296805, rs202247803, rs104894429, rs2546922711 RCV003404032
RCV003421907
RCV003415665
RCV003405794
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Conflicting classifications of pathogenicity rs553432772 RCV000758010
Acute myeloid leukemia Benign rs7320743 RCV005893227
Intellectual disability Conflicting classifications of pathogenicity rs34615430, rs553432772 RCV001251645
RCV000758010
Ovarian serous cystadenocarcinoma Benign rs7320743 RCV005893228
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 30176945
Carcinoma Renal Cell Associate 30198869
Gait Disorders Neurologic Associate 24721342
HHH syndrome Associate 18978333, 22292090, 24473688, 24721342, 30243302, 35711415, 39597062
Hyperammonemia Associate 24721342
Liver Failure Associate 18978333
Liver Neoplasms Associate 30176945
Melanoma Stimulate 30403179
Melanoma Cutaneous Malignant Associate 30403179
Neoplasms Associate 31733095, 35503998