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2025-05-09 16:53:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_031947 1417 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens solute carrier family 25 (mitochondrial carrier;
ornithine transporter) member 2 (SLC25A2), mRNA.
ACCESSION NM_031947
VERSION NM_031947.2 GI:67944635
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1417)
AUTHORS Monne,M., Miniero,D.V., Daddabbo,L., Robinson,A.J., Kunji,E.R. and
Palmieri,F.
TITLE Substrate specificity of the two mitochondrial ornithine carriers
can be swapped by single mutation in substrate binding site
JOURNAL J. Biol. Chem. 287 (11), 7925-7934 (2012)
PUBMED 22262851
REMARK GeneRIF: characterized mutations of the proposed substrate binding
site in ORC1 and ORC2; demonstrated that the residue at position
179 in the 2 soforms is largely responsible for the difference in
their substrate specificity;concluded that Arg-179 is a key residue
in the opening of the carrier to the matrix side
REFERENCE 2 (bases 1 to 1417)
AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
Gibbs,R.A. and Butte,N.F.
TITLE Novel genetic loci identified for the pathophysiology of childhood
obesity in the Hispanic population
JOURNAL PLoS ONE 7 (12), E51954 (2012)
PUBMED 23251661
REFERENCE 3 (bases 1 to 1417)
AUTHORS Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
TITLE Genetic variants in nuclear-encoded mitochondrial genes influence
AIDS progression
JOURNAL PLoS ONE 5 (9), E12862 (2010)
PUBMED 20877624
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 1417)
AUTHORS Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
and Wijmenga,C.
TITLE Coeliac disease-associated risk variants in TNFAIP3 and REL
implicate altered NF-kappaB signalling
JOURNAL Gut 58 (8), 1078-1083 (2009)
PUBMED 19240061
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 1417)
AUTHORS Fiermonte,G., Dolce,V., David,L., Santorelli,F.M., Dionisi-Vici,C.,
Palmieri,F. and Walker,J.E.
TITLE The mitochondrial ornithine transporter. Bacterial expression,
reconstitution, functional characterization, and tissue
distribution of two human isoforms
JOURNAL J. Biol. Chem. 278 (35), 32778-32783 (2003)
PUBMED 12807890
REMARK GeneRIF: expression, reconstitution, functional characterization,
and tissue distribution of two human isoforms ORC1 and ORC2
REFERENCE 6 (bases 1 to 1417)
AUTHORS Camacho,J.A., Rioseco-Camacho,N., Andrade,D., Porter,J. and Kong,J.
TITLE Cloning and characterization of human ORNT2: a second mitochondrial
ornithine transporter that can rescue a defective ORNT1 in patients
with the hyperornithinemia-hyperammonemia-homocitrullinuria
syndrome, a urea cycle disorder
JOURNAL Mol. Genet. Metab. 79 (4), 257-271 (2003)
PUBMED 12948741
REMARK GeneRIF: Here we identify a new intronless gene, ORNT2, located on
chromosome 5.
REFERENCE 7 (bases 1 to 1417)
AUTHORS Wu,Q., Zhang,T., Cheng,J.F., Kim,Y., Grimwood,J., Schmutz,J.,
Dickson,M., Noonan,J.P., Zhang,M.Q., Myers,R.M. and Maniatis,T.
TITLE Comparative DNA sequence analysis of mouse and human protocadherin
gene clusters
JOURNAL Genome Res. 11 (3), 389-404 (2001)
PUBMED 11230163
REFERENCE 8 (bases 1 to 1417)
AUTHORS Porter,R.K.
TITLE Mammalian mitochondrial inner membrane cationic and neutral amino
acid carriers
JOURNAL Biochim. Biophys. Acta 1459 (2-3), 356-362 (2000)
PUBMED 11004451
REMARK Review article
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF378119.1, AY208943.1 and
AF332005.1.
On Jun 17, 2005 this sequence version replaced gi:13994340.
Summary: Located between the protocadherin beta and gamma gene
clusters on chromosome 5, this intronless gene encodes a protein
that is highly similar to an ornithine transporter localized in the
mitochondrial inner membrane. The encoded protein most likely plays
a role in metabolism as a mitochondrial transport protein.
[provided by RefSeq, Jul 2008].
##Evidence-Data-START##
Transcript is intronless :: AF378119.1 [ECO:0000345]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-721 AF378119.1 1-721
722-1410 AY208943.1 650-1338
1411-1417 AF332005.1 1231-1237
FEATURES Location/Qualifiers
source 1..1417
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q31"
gene 1..1417
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/note="solute carrier family 25 (mitochondrial carrier;
ornithine transporter) member 2"
/db_xref="GeneID:83884"
/db_xref="HGNC:22921"
/db_xref="HPRD:12180"
/db_xref="MIM:608157"
exon 1..1417
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/inference="alignment:Splign:1.39.8"
misc_feature 172..174
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/note="upstream in-frame stop codon"
STS 181..1136
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/db_xref="UniSTS:480968"
CDS 181..1086
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/note="ornithine transporter 2; solute carrier family 25
member 2"
/codon_start=1
/product="mitochondrial ornithine transporter 2"
/protein_id="NP_114153.1"
/db_xref="GI:13994341"
/db_xref="CCDS:CCDS4258.1"
/db_xref="GeneID:83884"
/db_xref="HGNC:22921"
/db_xref="HPRD:12180"
/db_xref="MIM:608157"
/translation="
MKSGPGIQAAIDLTAGAAGGTACVLTGQPFDTIKVKMQTFPDLYKGLTDCFLKTYAQVGLRGFYKGTGPALMAYVAENSVLFMCYGFCQQFVRKVAGMDKQAKLSDLQTAAAGSFASAFAALALCPTELVKCRLQTMYEMEMSGKIAKSHNTIWSVVKGILKKDGPLGFYHGLSSTLLQEVPGYFFFFGGYELSRSFFASGRSKDELGPVHLMLSGGVAGICLWLVVFPVDCIKSRIQVLSMYGKQAGFIGTLLSVVRNEGIVALYSGLKATMIRAIPANGALFVAYEYSRKMMMKQLEAY
"
misc_feature 193..255
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
transmembrane region"
misc_feature 199..453
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
Region: Solcar 1"
misc_feature 214..462
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/note="Mitochondrial carrier protein; Region: Mito_carr;
pfam00153"
/db_xref="CDD:201040"
misc_feature 382..444
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
transmembrane region"
misc_feature 490..771
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
Region: Solcar 2"
misc_feature 508..570
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
transmembrane region"
misc_feature <553..774
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/note="Mitochondrial carrier protein; Region: Mito_carr;
pfam00153"
/db_xref="CDD:201040"
misc_feature 682..744
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
transmembrane region"
misc_feature 793..1068
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/note="Mitochondrial carrier protein; Region: Mito_carr;
pfam00153"
/db_xref="CDD:201040"
misc_feature 799..1059
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
Region: Solcar 3"
misc_feature 808..870
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
transmembrane region"
misc_feature 889..951
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BXI2.3);
transmembrane region"
variation 620
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34663948"
variation 722
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:3749779"
variation 856
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:3749780"
variation 939
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:3749781"
STS 1177..1327
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/standard_name="RH92610"
/db_xref="UniSTS:87951"
polyA_site 1417
/gene="SLC25A2"
/gene_synonym="ORC2; ORNT2"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
cggagcgtagggttgagcggcttcccccgcactggggtgagagcccagaacaggcggtagagccaccccaccacccccaactccattccccgcgctcgctgcggctggacgtgaaaagccggtctcacgctctggggagttagtcgccttccactgggaccctcagacgagtgagcgaacatgaagtccggtcctggcatccaagccgccatcgacctcacagcgggggccgcaggggggacagcgtgtgtactgactgggcagcccttcgacacaataaaagtgaagatgcagacgttccctgacctgtacaagggcctcaccgactgcttcctgaagacatacgcccaagtgggtctccggggcttctacaagggcaccggcccggcacttatggcctacgtcgccgaaaactcggtcctcttcatgtgctacgggttctgccagcagtttgtcaggaaagtggctggaatggacaagcaggcaaagctgagtgatctccagactgcagccgcggggtccttcgcctctgcatttgctgcactggctctctgccccactgagcttgtgaagtgccggctacagaccatgtatgaaatggagatgtcagggaagatagcaaaaagccataatacaatttggtctgtcgtgaagggtatccttaaaaaggatggccccttgggcttctaccatggactctcgagtactctacttcaagaagtaccgggttatttctttttctttggtggctatgaactgagccgatcgttttttgcgtcagggagatcaaaagatgaactaggccctgtccatttgatgttaagtggtggagttgctggaatttgcctgtggcttgtcgtgttcccagtggattgtattaaatccagaattcaagttctttccatgtatgggaaacaggcaggatttattggtaccctcttaagtgttgtgagaaatgaaggaatagtagccttatattctggactgaaagctactatgattcgagcaatccctgccaatggggcactgtttgtggcctacgaatacagcaggaagatgatgatgaaacagttggaagcatactgaagtgtcttggtgaacctggatccgagtccatgagtttgaggactacagttcatcacagggttcagcagagtacaagaccactgtctaattttgacttcatgggaattttggttttatcttcccttcttctaccctaaatcttaactttatggaagggcctctattttacatcatataatttctgcccataattgtattgaaataggaaagttgctgctcttgcacttgctggaatgtacagggtgggctggttggccctatgtacctaatctgaaaaactaaatatcgttctgtcagggcctttgcataaagccatttgtgtgtacatgca
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:83884 -> Molecular function: GO:0000064 [L-ornithine transmembrane transporter activity] evidence: NAS
GeneID:83884 -> Biological process: GO:0000050 [urea cycle] evidence: TAS
GeneID:83884 -> Biological process: GO:0000066 [mitochondrial ornithine transport] evidence: NAS
GeneID:83884 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
GeneID:83884 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:83884 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: TAS
GeneID:83884 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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