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NMNAT2 (nicotinamide nucleotide adenylyltransferase 2)

Identity

Alias_namesC1orf15
chromosome 1 open reading frame 15
Alias_symbol (synonym)KIAA0479
PNAT2
Other alias
HGNC (Hugo) NMNAT2
LocusID (NCBI) 23057
Atlas_Id 53712
Location 1q25.3  [Link to chromosome band 1q25]
Location_base_pair Starts at 183248237 and ends at 183418499 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DMGDH (5q14.1) / NMNAT2 (1q25.3)FUS (16p11.2) / NMNAT2 (1q25.3)NMNAT2 (1q25.3) / ATF6 (1q23.3)
UNC13C (15q21.3) / NMNAT2 (1q25.3)DMGDH 5q14.1 / NMNAT2 1q25.3NMNAT2 1q25.3 / ATF6 1q23.3

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)NMNAT2   16789
Cards
Entrez_Gene (NCBI)NMNAT2  23057  nicotinamide nucleotide adenylyltransferase 2
AliasesC1orf15; PNAT2
GeneCards (Weizmann)NMNAT2
Ensembl hg19 (Hinxton)ENSG00000157064 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157064 [Gene_View]  chr1:183248237-183418499 [Contig_View]  NMNAT2 [Vega]
ICGC DataPortalENSG00000157064
TCGA cBioPortalNMNAT2
AceView (NCBI)NMNAT2
Genatlas (Paris)NMNAT2
WikiGenes23057
SOURCE (Princeton)NMNAT2
Genetics Home Reference (NIH)NMNAT2
Genomic and cartography
GoldenPath hg38 (UCSC)NMNAT2  -     chr1:183248237-183418499 -  1q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NMNAT2  -     1q25.3   [Description]    (hg19-Feb_2009)
EnsemblNMNAT2 - 1q25.3 [CytoView hg19]  NMNAT2 - 1q25.3 [CytoView hg38]
Mapping of homologs : NCBINMNAT2 [Mapview hg19]  NMNAT2 [Mapview hg38]
OMIM608701   
Gene and transcription
Genbank (Entrez)AB007948 AF086038 AF288395 AK291390 AK309461
RefSeq transcript (Entrez)NM_015039 NM_170706
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NMNAT2
Cluster EST : UnigeneHs.497123 [ NCBI ]
CGAP (NCI)Hs.497123
Alternative Splicing GalleryENSG00000157064
Gene ExpressionNMNAT2 [ NCBI-GEO ]   NMNAT2 [ EBI - ARRAY_EXPRESS ]   NMNAT2 [ SEEK ]   NMNAT2 [ MEM ]
Gene Expression Viewer (FireBrowse)NMNAT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23057
GTEX Portal (Tissue expression)NMNAT2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZQ4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZQ4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZQ4
Splice isoforms : SwissVarQ9BZQ4
Catalytic activity : Enzyme2.7.7.1 [ Enzyme-Expasy ]   2.7.7.12.7.7.1 [ IntEnz-EBI ]   2.7.7.1 [ BRENDA ]   2.7.7.1 [ KEGG ]   
PhosPhoSitePlusQ9BZQ4
Domains : Interpro (EBI)Cyt_trans-like    Rossmann-like_a/b/a_fold   
Domain families : Pfam (Sanger)CTP_transf_like (PF01467)   
Domain families : Pfam (NCBI)pfam01467   
Conserved Domain (NCBI)NMNAT2
DMDM Disease mutations23057
Blocks (Seattle)NMNAT2
SuperfamilyQ9BZQ4
Human Protein AtlasENSG00000157064
Peptide AtlasQ9BZQ4
HPRD09786
IPIIPI00289183   IPI00102878   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZQ4
IntAct (EBI)Q9BZQ4
FunCoupENSG00000157064
BioGRIDNMNAT2
STRING (EMBL)NMNAT2
ZODIACNMNAT2
Ontologies - Pathways
QuickGOQ9BZQ4
Ontology : AmiGOGolgi membrane  nicotinamide-nucleotide adenylyltransferase activity  nicotinamide-nucleotide adenylyltransferase activity  nicotinate-nucleotide adenylyltransferase activity  nicotinate-nucleotide adenylyltransferase activity  ATP binding  late endosome  Golgi apparatus  trans-Golgi network  NAD biosynthetic process  NAD metabolic process  'de novo' NAD biosynthetic process from aspartate  synapse  
Ontology : EGO-EBIGolgi membrane  nicotinamide-nucleotide adenylyltransferase activity  nicotinamide-nucleotide adenylyltransferase activity  nicotinate-nucleotide adenylyltransferase activity  nicotinate-nucleotide adenylyltransferase activity  ATP binding  late endosome  Golgi apparatus  trans-Golgi network  NAD biosynthetic process  NAD metabolic process  'de novo' NAD biosynthetic process from aspartate  synapse  
Pathways : KEGGNicotinate and nicotinamide metabolism   
NDEx NetworkNMNAT2
Atlas of Cancer Signalling NetworkNMNAT2
Wikipedia pathwaysNMNAT2
Orthology - Evolution
OrthoDB23057
GeneTree (enSembl)ENSG00000157064
Phylogenetic Trees/Animal Genes : TreeFamNMNAT2
HOVERGENQ9BZQ4
HOGENOMQ9BZQ4
Homologs : HomoloGeneNMNAT2
Homology/Alignments : Family Browser (UCSC)NMNAT2
Gene fusions - Rearrangements
Fusion : MitelmanDMGDH/NMNAT2 [5q14.1/1q25.3]  [t(1;5)(q25;q14)]  
Fusion : MitelmanNMNAT2/ATF6 [1q25.3/1q23.3]  [t(1;1)(q23;q25)]  
Fusion: TCGADMGDH 5q14.1 NMNAT2 1q25.3 KIRC
Fusion: TCGANMNAT2 1q25.3 ATF6 1q23.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNMNAT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NMNAT2
dbVarNMNAT2
ClinVarNMNAT2
1000_GenomesNMNAT2 
Exome Variant ServerNMNAT2
ExAC (Exome Aggregation Consortium)NMNAT2 (select the gene name)
Genetic variants : HAPMAP23057
Genomic Variants (DGV)NMNAT2 [DGVbeta]
DECIPHERNMNAT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNMNAT2 
Mutations
ICGC Data PortalNMNAT2 
TCGA Data PortalNMNAT2 
Broad Tumor PortalNMNAT2
OASIS PortalNMNAT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNMNAT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNMNAT2
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 NMNAT2
DgiDB (Drug Gene Interaction Database)NMNAT2
DoCM (Curated mutations)NMNAT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NMNAT2 (select a term)
intoGenNMNAT2
Cancer3DNMNAT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608701   
Orphanet
MedgenNMNAT2
Genetic Testing Registry NMNAT2
NextProtQ9BZQ4 [Medical]
TSGene23057
GENETestsNMNAT2
Target ValidationNMNAT2
Huge Navigator NMNAT2 [HugePedia]
snp3D : Map Gene to Disease23057
BioCentury BCIQNMNAT2
ClinGenNMNAT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23057
Chemical/Pharm GKB GenePA25604
Clinical trialNMNAT2
Miscellaneous
canSAR (ICR)NMNAT2 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNMNAT2
EVEXNMNAT2
GoPubMedNMNAT2
iHOPNMNAT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:09:12 CEST 2017

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