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AMPD2 (adenosine monophosphate deaminase 2)

Identity

Alias_namesadenosine monophosphate deaminase 2 (isoform L)
Alias_symbol (synonym)SPG63
Other aliasPCH9
HGNC (Hugo) AMPD2
LocusID (NCBI) 271
Atlas_Id 43119
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 110162435 and ends at 110174677 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NEAT1 (11q13.1) / AMPD2 (1p13.3)PCIF1 (20q13.12) / AMPD2 (1p13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AMPD2   469
Cards
Entrez_Gene (NCBI)AMPD2  271  adenosine monophosphate deaminase 2
AliasesPCH9; SPG63
GeneCards (Weizmann)AMPD2
Ensembl hg19 (Hinxton)ENSG00000116337 [Gene_View]  chr1:110162435-110174677 [Contig_View]  AMPD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000116337 [Gene_View]  chr1:110162435-110174677 [Contig_View]  AMPD2 [Vega]
ICGC DataPortalENSG00000116337
TCGA cBioPortalAMPD2
AceView (NCBI)AMPD2
Genatlas (Paris)AMPD2
WikiGenes271
SOURCE (Princeton)AMPD2
Genetics Home Reference (NIH)AMPD2
Genomic and cartography
GoldenPath hg19 (UCSC)AMPD2  -     chr1:110162435-110174677 +  1p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AMPD2  -     1p13.3   [Description]    (hg38-Dec_2013)
EnsemblAMPD2 - 1p13.3 [CytoView hg19]  AMPD2 - 1p13.3 [CytoView hg38]
Mapping of homologs : NCBIAMPD2 [Mapview hg19]  AMPD2 [Mapview hg38]
OMIM102771   615686   615809   
Gene and transcription
Genbank (Entrez)AK025706 AK296394 AK302939 AK308907 AK314494
RefSeq transcript (Entrez)NM_001257360 NM_001257361 NM_001308170 NM_004037 NM_139156 NM_203404
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_034075 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)AMPD2
Cluster EST : UnigeneHs.82927 [ NCBI ]
CGAP (NCI)Hs.82927
Alternative Splicing GalleryENSG00000116337
Gene ExpressionAMPD2 [ NCBI-GEO ]   AMPD2 [ EBI - ARRAY_EXPRESS ]   AMPD2 [ SEEK ]   AMPD2 [ MEM ]
Gene Expression Viewer (FireBrowse)AMPD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)271
GTEX Portal (Tissue expression)AMPD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01433   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01433  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01433
Splice isoforms : SwissVarQ01433
Catalytic activity : Enzyme3.5.4.6 [ Enzyme-Expasy ]   3.5.4.63.5.4.6 [ IntEnz-EBI ]   3.5.4.6 [ BRENDA ]   3.5.4.6 [ KEGG ]   
PhosPhoSitePlusQ01433
Domaine pattern : Prosite (Expaxy)A_DEAMINASE (PS00485)   
Domains : Interpro (EBI)A/AMP_deam_AS    A/AMP_deaminase_dom    AMPD    AMPD2    Metal_Hydrolase   
Domain families : Pfam (Sanger)A_deaminase (PF00962)   
Domain families : Pfam (NCBI)pfam00962   
Conserved Domain (NCBI)AMPD2
DMDM Disease mutations271
Blocks (Seattle)AMPD2
PDB (SRS)4NO3    4NO5   
PDB (PDBSum)4NO3    4NO5   
PDB (IMB)4NO3    4NO5   
PDB (RSDB)4NO3    4NO5   
Structural Biology KnowledgeBase4NO3    4NO5   
SCOP (Structural Classification of Proteins)4NO3    4NO5   
CATH (Classification of proteins structures)4NO3    4NO5   
SuperfamilyQ01433
Human Protein AtlasENSG00000116337
Peptide AtlasQ01433
HPRD11808
IPIIPI00942246   IPI00184670   IPI00215826   IPI00215827   IPI00007722   IPI00975899   IPI00985376   IPI00978225   IPI00977058   IPI00977596   IPI00976416   
Protein Interaction databases
DIP (DOE-UCLA)Q01433
IntAct (EBI)Q01433
FunCoupENSG00000116337
BioGRIDAMPD2
STRING (EMBL)AMPD2
ZODIACAMPD2
Ontologies - Pathways
QuickGOQ01433
Ontology : AmiGOAMP deaminase activity  AMP deaminase activity  AMP deaminase activity  protein binding  cellular_component  cytosol  IMP biosynthetic process  IMP salvage  purine-containing compound salvage  AMP metabolic process  ATP metabolic process  GTP metabolic process  metal ion binding  cyclic purine nucleotide metabolic process  energy homeostasis  
Ontology : EGO-EBIAMP deaminase activity  AMP deaminase activity  AMP deaminase activity  protein binding  cellular_component  cytosol  IMP biosynthetic process  IMP salvage  purine-containing compound salvage  AMP metabolic process  ATP metabolic process  GTP metabolic process  metal ion binding  cyclic purine nucleotide metabolic process  energy homeostasis  
Pathways : KEGGPurine metabolism   
NDEx NetworkAMPD2
Atlas of Cancer Signalling NetworkAMPD2
Wikipedia pathwaysAMPD2
Orthology - Evolution
OrthoDB271
GeneTree (enSembl)ENSG00000116337
Phylogenetic Trees/Animal Genes : TreeFamAMPD2
HOVERGENQ01433
HOGENOMQ01433
Homologs : HomoloGeneAMPD2
Homology/Alignments : Family Browser (UCSC)AMPD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAMPD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMPD2
dbVarAMPD2
ClinVarAMPD2
1000_GenomesAMPD2 
Exome Variant ServerAMPD2
ExAC (Exome Aggregation Consortium)AMPD2 (select the gene name)
Genetic variants : HAPMAP271
Genomic Variants (DGV)AMPD2 [DGVbeta]
DECIPHER (Syndromes)1:110162435-110174677  ENSG00000116337
CONAN: Copy Number AnalysisAMPD2 
Mutations
ICGC Data PortalAMPD2 
TCGA Data PortalAMPD2 
Broad Tumor PortalAMPD2
OASIS PortalAMPD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMPD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAMPD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AMPD2
DgiDB (Drug Gene Interaction Database)AMPD2
DoCM (Curated mutations)AMPD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMPD2 (select a term)
intoGenAMPD2
Cancer3DAMPD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102771    615686    615809   
Orphanet22448    22832   
MedgenAMPD2
Genetic Testing Registry AMPD2
NextProtQ01433 [Medical]
TSGene271
GENETestsAMPD2
Huge Navigator AMPD2 [HugePedia]
snp3D : Map Gene to Disease271
BioCentury BCIQAMPD2
ClinGenAMPD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD271
Chemical/Pharm GKB GenePA24777
Clinical trialAMPD2
Miscellaneous
canSAR (ICR)AMPD2 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAMPD2
EVEXAMPD2
GoPubMedAMPD2
iHOPAMPD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 12:55:42 CET 2017

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