ORNT2_HUMAN
ID ORNT2_HUMAN Reviewed; 301 AA.
AC Q9BXI2; Q496C1; Q6XUI0; Q8NFZ2;
DT 11-FEB-2002, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 3.
DT 03-AUG-2022, entry version 160.
DE RecName: Full=Mitochondrial ornithine transporter 2;
DE AltName: Full=Solute carrier family 25 member 2;
GN Name=SLC25A2; Synonyms=ORNT2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=11230163; DOI=10.1101/gr.167301;
RA Wu Q., Zhang T., Cheng J.-F., Kim Y., Grimwood J., Schmutz J., Dickson M.,
RA Noonan J.P., Zhang M.Q., Myers R.M., Maniatis T.;
RT "Comparative DNA sequence analysis of mouse and human protocadherin gene
RT clusters.";
RL Genome Res. 11:389-404(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], VARIANTS CYS-159 AND GLY-181, AND
RP CHARACTERIZATION.
RC TISSUE=Testis;
RX PubMed=12948741; DOI=10.1016/s1096-7192(03)00105-7;
RA Camacho J.A. III, Rioseco-Camacho N., Andrade D., Porter J., Kong J.;
RT "Cloning and characterization of human ORNT2: a second mitochondrial
RT ornithine transporter that can rescue a defective ORNT1 in patients with
RT the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea
RT cycle disorder.";
RL Mol. Genet. Metab. 79:257-271(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT CYS-159.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Ornithine transport across inner mitochondrial membrane, from
CC the cytoplasm to the matrix.
CC -!- INTERACTION:
CC Q9BXI2; Q6NTF9-3: RHBDD2; NbExp=3; IntAct=EBI-17590310, EBI-17589229;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane
CC protein.
CC -!- TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas and cultured
CC fibroblasts.
CC -!- POLYMORPHISM: Variant Cys-159 has a reduced ornithine transport
CC activity, while variant Gly-181 has an increased activity.
CC -!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29) family.
CC {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF332005; AAK26320.1; -; mRNA.
DR EMBL; AF378119; AAM94902.1; -; mRNA.
DR EMBL; AY208943; AAO31753.1; -; mRNA.
DR EMBL; CH471062; EAW61967.1; -; Genomic_DNA.
DR EMBL; BC069458; AAH69458.1; -; mRNA.
DR EMBL; BC100935; AAI00936.1; -; mRNA.
DR EMBL; BC100936; AAI00937.1; -; mRNA.
DR EMBL; BC100937; AAI00938.1; -; mRNA.
DR CCDS; CCDS4258.1; -.
DR RefSeq; NP_114153.1; NM_031947.3.
DR AlphaFoldDB; Q9BXI2; -.
DR SMR; Q9BXI2; -.
DR BioGRID; 123796; 8.
DR IntAct; Q9BXI2; 6.
DR STRING; 9606.ENSP00000239451; -.
DR DrugBank; DB00129; Ornithine.
DR TCDB; 2.A.29.19.1; the mitochondrial carrier (mc) family.
DR iPTMnet; Q9BXI2; -.
DR PhosphoSitePlus; Q9BXI2; -.
DR BioMuta; SLC25A2; -.
DR DMDM; 209572728; -.
DR jPOST; Q9BXI2; -.
DR MassIVE; Q9BXI2; -.
DR PaxDb; Q9BXI2; -.
DR PeptideAtlas; Q9BXI2; -.
DR PRIDE; Q9BXI2; -.
DR ProteomicsDB; 79425; -.
DR Antibodypedia; 45546; 114 antibodies from 17 providers.
DR DNASU; 83884; -.
DR Ensembl; ENST00000239451.7; ENSP00000239451.4; ENSG00000120329.7.
DR GeneID; 83884; -.
DR KEGG; hsa:83884; -.
DR MANE-Select; ENST00000239451.7; ENSP00000239451.4; NM_031947.4; NP_114153.1.
DR UCSC; uc003ljf.3; human.
DR CTD; 83884; -.
DR DisGeNET; 83884; -.
DR GeneCards; SLC25A2; -.
DR HGNC; HGNC:22921; SLC25A2.
DR HPA; ENSG00000120329; Tissue enriched (testis).
DR MIM; 608157; gene.
DR neXtProt; NX_Q9BXI2; -.
DR OpenTargets; ENSG00000120329; -.
DR PharmGKB; PA134910073; -.
DR VEuPathDB; HostDB:ENSG00000120329; -.
DR eggNOG; KOG0763; Eukaryota.
DR GeneTree; ENSGT00940000163424; -.
DR HOGENOM; CLU_015166_16_3_1; -.
DR InParanoid; Q9BXI2; -.
DR OMA; PVQYIAH; -.
DR OrthoDB; 1072378at2759; -.
DR PhylomeDB; Q9BXI2; -.
DR TreeFam; TF314880; -.
DR PathwayCommons; Q9BXI2; -.
DR Reactome; R-HSA-70635; Urea cycle.
DR SABIO-RK; Q9BXI2; -.
DR SignaLink; Q9BXI2; -.
DR BioGRID-ORCS; 83884; 10 hits in 1066 CRISPR screens.
DR GenomeRNAi; 83884; -.
DR Pharos; Q9BXI2; Tbio.
DR PRO; PR:Q9BXI2; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9BXI2; protein.
DR Bgee; ENSG00000120329; Expressed in sperm and 30 other tissues.
DR Genevisible; Q9BXI2; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0000064; F:L-ornithine transmembrane transporter activity; EXP:Reactome.
DR GO; GO:0022857; F:transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:1990575; P:mitochondrial L-ornithine transmembrane transport; IDA:UniProtKB.
DR GO; GO:0000050; P:urea cycle; TAS:Reactome.
DR Gene3D; 1.50.40.10; -; 2.
DR InterPro; IPR018108; Mitochondrial_sb/sol_carrier.
DR InterPro; IPR023395; Mt_carrier_dom_sf.
DR Pfam; PF00153; Mito_carr; 3.
DR SUPFAM; SSF103506; SSF103506; 1.
DR PROSITE; PS50920; SOLCAR; 3.
PE 1: Evidence at protein level;
KW Membrane; Mitochondrion; Mitochondrion inner membrane; Reference proteome;
KW Repeat; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..301
FT /note="Mitochondrial ornithine transporter 2"
FT /id="PRO_0000090652"
FT TRANSMEM 5..25
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 68..88
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 168..188
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 210..230
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 237..257
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REPEAT 7..91
FT /note="Solcar 1"
FT REPEAT 104..197
FT /note="Solcar 2"
FT REPEAT 207..293
FT /note="Solcar 3"
FT VARIANT 159
FT /note="G -> C (in dbSNP:rs10075302)"
FT /evidence="ECO:0000269|PubMed:12948741,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_017248"
FT VARIANT 181
FT /note="V -> G (in dbSNP:rs3749779)"
FT /evidence="ECO:0000269|PubMed:12948741"
FT /id="VAR_017249"
FT VARIANT 226
FT /note="V -> I (in dbSNP:rs3749780)"
FT /id="VAR_017250"
SQ SEQUENCE 301 AA; 32580 MW; F22760BADE31DE21 CRC64;
MKSGPGIQAA IDLTAGAAGG TACVLTGQPF DTIKVKMQTF PDLYKGLTDC FLKTYAQVGL
RGFYKGTGPA LMAYVAENSV LFMCYGFCQQ FVRKVAGMDK QAKLSDLQTA AAGSFASAFA
ALALCPTELV KCRLQTMYEM EMSGKIAKSH NTIWSVVKGI LKKDGPLGFY HGLSSTLLQE
VPGYFFFFGG YELSRSFFAS GRSKDELGPV HLMLSGGVAG ICLWLVVFPV DCIKSRIQVL
SMYGKQAGFI GTLLSVVRNE GIVALYSGLK ATMIRAIPAN GALFVAYEYS RKMMMKQLEA
Y
