Property Summary

NCBI Gene PubMed Count 18
PubMed Score 278.92
PubTator Score 2.85

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
Multiple myeloma 1.745 1.7e-03
atypical teratoid / rhabdoid tumor -1.600 6.2e-07
hereditary spastic paraplegia -1.139 4.0e-03
pancreatic ductal adenocarcinoma liver m... -1.552 2.8e-02
Alzheimer's disease -1.200 3.0e-02
Pick disease -1.500 3.2e-05
progressive supranuclear palsy -1.400 2.3e-02
ovarian cancer -1.700 6.9e-05

Gene RIF (6)

PMID Text
26464032 The rs10056340 single nucleotide polymorphism was significantly associated with atopic dermatitis.
26168012 Data indicate four families with recessive mutations in solute carrier family 25 member 46 protein (SLC25A46).
23879873 Rs17132261 was associated with left ventricular hypertrophy in type 2 diabetic patients.
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19584346 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MHPRRPDGFDGLGYRGGARDEQGFGGAFPARSFSTGSDLGHWVTTPPDIPGSRNLHWGEKSPPYGVPTTS      1 - 70
TPYEGPTEEPFSSGGGGSVQGQSSEQLNRFAGFGIGLASLFTENVLAHPCIVLRRQCQVNYHAQHYHLTP     71 - 140
FTVINIMYSFNKTQGPRALWKGMGSTFIVQGVTLGAEGIISEFTPLPREVLHKWSPKQIGEHLLLKSLTY    141 - 210
VVAMPFYSASLIETVQSEIIRDNTGILECVKEGIGRVIGMGVPHSKRLLPLLSLIFPTVLHGVLHYIISS    211 - 280
VIQKFVLLILKRKTYNSHLAESTSPVQSMLDAYFPELIANFAASLCSDVILYPLETVLHRLHIQGTRTII    281 - 350
DNTDLGYEVLPINTQYEGMRDCINTIRQEEGVFGFYKGFGAVIIQYTLHAAVLQITKIIYSTLLQNNI      351 - 418
//

Text Mined References (25)

PMID Year Title
27430653 2016 SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.
27390132 2016 SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
26951855 2017 Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
26464032 2015 Association analysis of allergic sensitization susceptibility loci with atopic dermatitis in Chinese population.
26168012 2015 Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
25416956 2014 A proteome-scale map of the human interactome network.
24388013 2014 Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23879873 2013 Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis.
23817571 2013 Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19584346 2009 Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16949250 2006 Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
1651562 1991 Identification of FAP locus genes from chromosome 5q21.