Property Summary

NCBI Gene PubMed Count 12
PubMed Score 2.47
PubTator Score 3.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (3)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.300 0.000

Synonym

Accession Q9BXI2 Q496C1 Q6XUI0 Q8NFZ2
Symbols ORC2
ORNT2

Gene

Gene RIF (6)

PMID Text
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
22262851 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
20877624 Observational study of gene-disease association. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)
12948741 Here we identify a new intronless gene, ORNT2, located on chromosome 5.
12807890 expression, reconstitution, functional characterization, and tissue distribution of two human isoforms ORC1 and ORC2

AA Sequence

MKSGPGIQAAIDLTAGAAGGTACVLTGQPFDTIKVKMQTFPDLYKGLTDCFLKTYAQVGLRGFYKGTGPA      1 - 70
LMAYVAENSVLFMCYGFCQQFVRKVAGMDKQAKLSDLQTAAAGSFASAFAALALCPTELVKCRLQTMYEM     71 - 140
EMSGKIAKSHNTIWSVVKGILKKDGPLGFYHGLSSTLLQEVPGYFFFFGGYELSRSFFASGRSKDELGPV    141 - 210
HLMLSGGVAGICLWLVVFPVDCIKSRIQVLSMYGKQAGFIGTLLSVVRNEGIVALYSGLKATMIRAIPAN    211 - 280
GALFVAYEYSRKMMMKQLEAY                                                     281 - 301
//

Text Mined References (13)

PMID Year Title
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22262851 2012 Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12948741 2003 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.
12807890 2003 The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11230163 2001 Comparative DNA sequence analysis of mouse and human protocadherin gene clusters.
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