AutismKB 2.0

Annotation Detail for RARS2


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Basic Information Top
Gene Symbol:RARS2 ( ArgRS,DALRD2,MGC14993,MGC23778,PCH6,PRO1992,RARSL,dJ382I10.6 )
Gene Full Name: arginyl-tRNA synthetase 2, mitochondrial
Band: 6q15
Quick LinksEntrez ID:57038; OMIM: 611524; Uniprot ID:SYRM_HUMAN; ENSEMBL ID: ENSG00000146282; HGNC ID: 21406
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
TRNA-CHARGING-PWYtRNA charging pathway
Pathway IDPathway Name
hsa00970Aminoacyl-tRNA biosynthesis
Pathway IDPathway Name
Gene Expression
No data
No data
Pathway IDPathway Name
500661Mitochondrial tRNA aminoacylation
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Pontocerebellar hypoplasia, type 6
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RARS2 mRNAdecreases expression 20018196
D011374 Progesterone Progesterone affects the expression of RARS2 mRNAaffects expression 17251523
C034028 vanadyl sulfate vanadyl sulfate results in increased expression of RARS2 mRNAincreases expression 16330358
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 6.2017868700
MESH:D001930 Brain Injuries Progesterone 4.9115665606 15380490 15845082
MESH:D001943 Breast Neoplasms Progesterone 2.4117614352 15562024 16175315
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 3.0120889678
MESH:D003921 Diabetes Mellitus, Experimental vanadyl sulfate 4.7616684804
MESH:D003929 Diabetic Neuropathies Progesterone 5.1517187935
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.3617692515
MESH:D004715 Endometriosis Progesterone 4.2116134523
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 5.0515869954
MESH:D007249 Inflammation Progesterone 2.7915869954
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 3.1217203775 11408345
MESH:D010051 Ovarian Neoplasms Progesterone 2.6316525653 17393432
MESH:C548074 Pontocerebellar Hypoplasia Type 6 marker/mechanism
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9718045962
MESH:D013119 Spinal Cord Injuries Progesterone 5.0216503802 15862959
Pathway ID Pathway Name
KEGG:00970 Aminoacyl-tRNA biosynthesis
REACT:71 Gene Expression
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA162400662
  • No data
    Releated disease ID Related disease Name
    PA152241953Encephalopathy, Infantile
    PA153627462Pontocerebellar Hypoplasia
    Releated drug ID Related drug Name
    PA449789glycine
    PA448055l-alanine
    PA448478l-arginine
    PA449173l-cysteine
    PA10090l-glutamine
    PA449882l-histidine
    PA450197l-leucine
    PA450280l-lysine
    PA450423l-methionine
    PA450931l-phenylalanine
    PA451330l-serine
    PA451673l-threonine
    PA10323l-tryptophan
    PA451822l-tyrosine
    PA451843l-valine
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018