SLC25A2 - solute carrier family 25 member 2 Gene

Also Known as ORC2; ORNT2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83884

About SLC25A2

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:141,302,635-141,304,049 (from NCBI)

This gene has 1 transcript (splice variant), 62 orthologues and 49 paralogues.

Summary

This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5. [provided by RefSeq, Dec 2014]

SLC25A2 Products (1)

mRNA Protein Name
NM_031947.4 NP_114153.1 mitochondrial ornithine transporter 2
Molecular Function GO Annotation Evidence References Source
enables L-arginine transmembrane transporter activity IDA
IDA: Inferred from direct assay
26403849 GOA
enables L-lysine transmembrane transporter activity IDA
IDA: Inferred from direct assay
26403849 GOA
enables L-ornithine transmembrane transporter activity EXP
EXP: Inferred from Experiment
12807890 GOA
enables L-ornithine transmembrane transporter activity IDA
IDA: Inferred from direct assay
26403849 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in L-arginine transmembrane transport IDA
IDA: Inferred from direct assay
26403849 GOA
involved in L-lysine transmembrane transport IDA
IDA: Inferred from direct assay
26403849 GOA
involved in L-ornithine transmembrane transport IDA
IDA: Inferred from direct assay
26403849 GOA
involved in mitochondrial L-ornithine transmembrane transport IDA
IDA: Inferred from direct assay
12807890 GOA
involved in ornithine metabolic process IMP
IMP: Inferred from mutant phenotype
12948741 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrion IDA
IDA: Inferred from direct assay
12948741 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC25A2 Protein Structure

Mito_carr

Mito_carr: Mitochondrial carrier protein (10 - 94)

Mito_carr

Mito_carr: Mitochondrial carrier protein (106 - 199)

Mito_carr

Mito_carr: Mitochondrial carrier protein (206 - 297)

  • 0
  • 100
  • 200
  • 301 a.a.
Protein Preferred Names Protein Names

mitochondrial ornithine transporter 2

  • solute carrier family 25 (mitochondrial carrier

SLC25A2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC25A2 Q9BXI2 RHBDD2 Homo sapiens Q6NTF9-3 32296183
Intra
SLC25A2 Q9BXI2 RHBDD2 Homo sapiens Q6NTF9-3 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
  • Hhh Syndrome

  • Ornithine Translocase Deficiency

  • Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome

  • HHHS

  • Hhh

  • Triple H Syndrome

  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

  • Ornithine Translocase Deficiency Syndrome

  • Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome

  • Ornt1 Deficiency

  • Ornithine Carrier Deficiency

  • Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
  • PEOA2

  • Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 2

  • Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2

  • Chronic Progressive External Ophthalmoplegia

  • Progressive External Ophthalmoplegia, Autosomal Dominant 2

  • Autosomal Dominant Progressive External Ophthalmoplegia 2

  • Cpeo

  • Graefe Disease

  • Mitochondrial Ocular Myopathy

  • Ocular Myopathy Of Von Graefe-Fuchs

  • Progressive External Ophthalmoplegia Autosomal Dominant 2

  • Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 2

  • Kearns-Sayre Syndrome

Mitochondrial Dna Depletion Syndrome 12a
Citrullinemia, Type Ii, Adult-Onset
  • Citrin Deficiency

  • CTLN2

  • Citrullinemia Type Ii

  • Adult-Onset Citrullinemia Type 2

  • Adult-Onset Type Ii Citrullinemia

  • Citrullinemia, Adult-Onset Type Ii

  • Adult-Onset Citrin Deficiency

  • Adult-Onset Citrullinemia Type Ii

  • Citrullinemia Type 2

  • Citrullinemia 2

  • Citrullinemia, Type Ii

Frontonasal Dysplasia 1
  • Frontorhiny

  • Frontonasal Dysplasia

  • Fnd

  • Frontonasal Malformation

  • Fnm

  • Median Facial Cleft Syndrome

  • Midline Facial Cleft

  • FND1

  • Median Cleft Face Syndrome

  • Median Cleft Syndrome

  • Frontonasal Dysplasia Sequence

  • Median Facial Cleft

  • Tessier Number 0-14 And 30 Facial Cleft

  • Alx3-Related Frontonasal Dysplasia

  • Frontonasal Dysplasia Type 1

  • Isolated Median Cleft Face Syndrome

  • Doid:0081044

  • Doid:0081045

  • Dysplasia, Frontonasal, Type

Developmental And Epileptic Encephalopathy 39
  • Hypomyelination, Global Cerebral

  • Agc1 Deficiency

  • Epileptic Encephalopathy, Early Infantile, 39

  • DEE39

  • Eiee39

  • Aspartate-Glutamate Carrier 1 Deficiency

  • Epileptic Encephalopathy With Global Cerebral Demyelination

  • Developmental And Epileptic Encephalopathy, 39

  • Early Infantile Epileptic Encephalopathy 39

  • Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

  • Global Cerebral Hypomyelination

  • Hereditary Central Nervous System Demyelinating Diseases

Citrullinemia, Classic
  • Citrullinemia

  • Classic Citrullinemia

  • Argininosuccinate Synthetase Deficiency

  • Ass Deficiency

  • Citrullinemia Type I

  • CTLN1

  • Citrullinuria

  • Citrullinemia, Type I

  • Argininosuccinic Acid Synthetase Deficiency

  • Ctnl1

  • Citrullinemia 1

  • Deficiency Of Citrulline-Aspartate Ligase

  • Cit

  • Argininosuccinate Synthase Deficiency

  • Argininosuccinic Acid Synthase Deficiency

  • Citrullinemia Type 1

  • Citrullinemia Classical

Urea Cycle Disorder
  • Urea Cycle Disorders

  • Urea Cycle Disorders, Inborn

  • Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

  • Disorder Of Urea Cycle Metabolism

  • Urea Cycle Defect

  • Ucd

  • Disorder Of The Urea Cycle Metabolism

  • Disorder Of Urea Cycle

  • Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

  • Ammonia Metabolic Disorder

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta SLC25A2 VGNC VGNC:77551
Mus musculus SLC25A2 MGD MGI:2137907
Felis catus SLC25A2 VGNC VGNC:102320
Canis familiaris SLC25A2 VGNC VGNC:53472
Rattus norvegicus SLC25A2 RGD RGD:1310667
Others SLC25A2 NCBI