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FLASH GENE
Symbol AMPD2 contributors: mct - updated : 29-08-2016
HGNC name adenosine monophosphate deaminase 2 (isoform L)
HGNC id 469
Corresponding disease
PCH9 pontocerebellar hypoplasia, type 9
SPG63 spastic paraplegia 63
Location 1p13.3      Physical location : 110.162.458 - 110.174.677
Synonym name AMP deaminase isoform L
Synonym symbol(s) PCH9, SPG63
EC.number 3.5.4.6
DNA
TYPE functioning gene
STRUCTURE 12.24 kb     18 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
MGC26989 1p13.3 hypothetical protein MGC26989 LGN MCLC 1p13.2 hypothetical protein MGC26989 KIAA0893 1p13.3 hypothetical protein MGC26989 NDUFB3P1 1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 1 AD-020 1p13.3 protein x 013 LOC391065 1 similar to poly(rC) binding protein 1; heterogenous nuclear ribonucleoprotein X; poly(rC)-binding protein 1; alpha-CP1; nucleic acid binding protein sub 2.3; heterogenous nuclear ribonucleoprotein E1 LOC127003 1p13.3 similar to CG5435-PA KIAA1324 1p13.2 maba1 SARS 1p13 seryl-tRNA synthetase CELSR2 1p21.16p13.3 cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) DDA3 1p13.2 differential display and activated by p53 LOC343263 1p13.2 similar to Myosin-binding protein H (MyBP-H) (H-protein) SORT1 1p21.3-p13.1 Sortilin 1 PSMA5 1p13 proteasome (prosome, macropain) subunit, alpha type, 5 LOC388660 1 similar to mitsugumin29 LOC284612 1p13.2 hypothetical protein LOC284612 MGC46534 1p13.2 hypothetical protein MGC46534 FLJ39035 1p13.2 hypothetical protein FLJ39035 KIAA1163 1p13.2 amphoterin-induced gene GPR61 1p13.1 G protein-coupled receptor 61 GNAI3 1p13 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 GNAT2 1p13 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 AMPD2 1p21-p13 adenosine monophosphate deaminase 2 (isoform L) GSTM4 1p13.3 glutathione S-transferase M4 GSTM2 1p13.3 glutathione S-transferase M2 (muscle) GSTM1 1p13.3 glutathione S-transferase M1 GSTM5 1p13.3 glutathione S-transferase M5 GSTM3 1p13.3 glutathione S-transferase M3 (brain) EPS8L3 1p13.2-p11 EPS8-like 3 CSF1 1p21-p13.3 colony stimulating factor 1 (macrophage) AHCYL1 1p12 S-adenosylhomocysteine hydrolase-like 1 PRO0233 1p13.2 PRO0233 protein ALX3 1p23-p21 aristaless-like homeobox 3 LOC164153 1p13.2 similar to RIKEN cDNA 4930522D07 LOC388661 1 LOC388661 LOC388662 1 similar to Orphan sodium- and chloride-dependent neurotransmitter transporter NTT4 KCNC4 1p21 potassium voltage-gated channel, Shaw-related subfamily, member 4
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 4138 - 879 - 2013 23911318
18 - 4005 - 879 - 2013 23911318
18 - 3785 - 798 - 2013 23911318
17 - 3541 - 804 - 2013 23911318
18 - 3421 - 761 - 2013 23911318
16 - 3423 - 760 - 2013 23911318
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Nervousbrain    
Reproductivemale systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , tetramer
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
basic FUNCTION playing a critical role in energy metabolism
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism purine/pyrimidine
signaling
  • adenine nucleotide catabolic pathway
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PCH9 , SPG63
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS