Protein name: AGC2 (aspartate / glutamate carrier 2) Aliases: citrin, CTLN2, aralar2 Substrates: aspartate, glutamate Transport type: Exchanger / aspartate, glutamate, H+ Tissue and cellular expression: liver, kidney, pancreas, heart, skeletal muscle, brain Subcellular expression: inner mitochondrial membrane Disease: citrullinemia type II (CTLN2), neonatal intrahepatic cholestasis (NICCD) Locus: 7q21.3 Sequence ID: NP_001153682.1, NM_001160210.1 NP_055066.1, NM_014251.2 Gene ID: 10165 Splice variants: N/D

CMC2_HUMAN (UniProt)

Gene names: SLC25A13, ARALAR2
Protein names and data: CMC2_HUMAN, Full=Calcium-binding mitochondrial carrier protein Aralar2, Full=Citrin;Full=Mitochondrial aspartate glutamate carrier 2;Full=Solute carrier family 25 member 13; Length: 675 a.a., Mass: 74176 Da,
fasta formatted sequence

Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle
Cellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Tissue specificity: High levels in liver and low levels in kidney, pancreas, placenta, heart and brain

Database cross-references

UniProt: Q9UJS0
NextBio: 38486
OMIM: 603471 603859 605814
Ensembl: ENST00000416240
GeneCard: GC07M096120
TCDB: 2.A.29.14.2
PharmGenUCSF: SLC25A13
Guide to Pharmacology: SLC25A13 (1055)
Mitochondrial amino acid transporter subfamily (1055)

HGNC: HGNC:10983

Genetic variants

See also Ensembl:ENST00000416240