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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NMNAT2 Gene

protein-coding GIFtS: 60
GCID: GC01M183217

nicotinamide nucleotide adenylyltransferase 2

(Previous name: chromosome 1 open reading frame 15 )
(Previous symbol: C1orf15)

Explore 2 diseases affiliated with
NMNAT2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nicotinamide Nucleotide Adenylyltransferase 2¹ ²		NMN Adenylyltransferase 2² ³
C1orf15¹ ² ³		Chromosome 1 Open Reading Frame 15¹
PNAT2¹ ²		Nicotinamide Mononucleotide Adenylyltransferase 2²
KIAA0479¹ ³		Pyridine Nucleotide Adenylyltransferase 2²
Nicotinate-Nucleotide Adenylyltransferase 2² ³		EC 2.7.7.1³
NaMN Adenylyltransferase 2² ³		EC 2.7.7.18³

External Ids:	HGNC: 16789¹	Entrez Gene: 23057²	Ensembl: ENSG00000157064⁷	OMIM: 608701⁵	UniProtKB: Q9BZQ4³

Export aliases for NMNAT2 gene to outside databases

Previous GC identifers: GC01M179737 GC01M180456 GC01M179951 GC01M181483 GC01M154453

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NMNAT2:

This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of

which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is

localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in

the brain. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul

2008)

UniProtKB/Swiss-Prot: NMNA2_HUMAN, Q9BZQ4

Function: Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated

form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency. Cannot use triazofurin

monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of

NAD(+). For the pyrophosphorolytic activity prefers NAD(+), NADH and NAAD as substrates and degrades nicotinic acid

adenine dinucleotide phosphate (NHD) less effectively. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and

NAADP(+)

Gene Wiki entry for NMNAT2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NMNAT2 gene promoter:
SRF SRF (504 AA) GATA-1 CREB MZF-1 c-Rel FOXO4 FOXJ2 (long isoform) FOXJ2 ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NMNAT2 promoter sequence

Search SABiosciences Chromatin IP Primers for NMNAT2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NMNAT2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25 Ensembl cytogenetic band: 1q25.3 HGNC cytogenetic band: 1q25

NMNAT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NMNAT2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M183217: view genomic region (about GC identifiers)

Start:	183,217,372 bp from pter	End:	183,387,737 bp from pter
Size:	170,366 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NMNA2_HUMAN, Q9BZQ4 (See protein sequence)

Recommended Name: Nicotinamide mononucleotide adenylyltransferase 2

Size: 307 amino acids; 34439 Da

Cofactor: Divalent metal cations. Magnesium confers the highest activity

Subunit: Monomer

Subcellular location: Cytoplasm. Golgi apparatus

Sequence caution: Sequence=BAA32324.1; Type=Erroneous initiation;

Secondary accessions: O75067 Q5T1Q3 Q8WU99 Q96QW1

Alternative splicing: 2 isoforms: Q9BZQ4-1 Q9BZQ4-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NMNAT2: NX_Q9BZQ4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BZQ4

NMNAT2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_055854.1 NP_733820.1

ENSEMBL proteins:

ENSP00000287713 ENSP00000294868

Reactome Protein details: Q9BZQ4
Human Recombinant Protein Products for NMNAT2:

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Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	TAS	--
GO:0005634	nucleus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005770	late endosome	IEA	--
GO:0005794	Golgi apparatus	IDA	16118205

NMNAT2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NMNAT2 for domains About GeneDecksing

3 InterPro domains/families:

IPR014729 Rossmann-like_a/b/a_fold

IPR004821 Cyt_trans-like

IPR005248 NAMN_adtrnsfrase

Graphical View of Domain Structure for InterPro Entry Q9BZQ4

ProtoNet protein and cluster: Q9BZQ4

1 Blocks protein family: IPB004820 Cytidylyltransferase

UniProtKB/Swiss-Prot: NMNA2_HUMAN, Q9BZQ4

Similarity: Belongs to the eukaryotic NMN adenylyltransferase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NMNA2_HUMAN, Q9BZQ4

Function: Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated

form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency. Cannot use triazofurin

monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of

NAD(+). For the pyrophosphorolytic activity prefers NAD(+), NADH and NAAD as substrates and degrades nicotinic acid

adenine dinucleotide phosphate (NHD) less effectively. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and

NAADP(+)

Catalytic activity: ATP + nicotinamide ribonucleotide = diphosphate + NAD(+)

Catalytic activity: ATP + beta-nicotinate-D-ribonucleotide = diphosphate + deamido-NAD(+)

Enzyme regulation: Inhibited by P1-(adenosine-5')-P3-(nicotinamide-riboside-5')-triphosphate (Np3AD) and

P1-(adenosine-5')-P4-(nicotinamide-riboside-5')-tetraphosphate (Np4AD)

Biophysicochemical properties: Kinetic parameters: KM=32 uM for NMN; KM=70 uM for NAD(+); KM=204 uM for ATP; KM=1119 uM

for PPi; KM=14.5 uM for NaMN; KM=304 uM for NMNH; Vmax=1.1 umol/min/mg enzyme for NAD synthesis; Vmax=3 umol/min/mg

enzyme for pyrophosphorolytic NAD(+) cleavage; Vmax=7 umol/min/mg enzyme for pyrophosphorolytic NADH cleavage; Note=KM

is >100 uM for triazofurin monophosphate; pH dependence: Optimum pH is 6.0-9.0;

Enzyme Numbers (IUBMB): EC 2.7.7.18¹ EC 2.7.7.1¹

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000309	nicotinamide-nucleotide adenylyltransferase activity	TAS	--
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	IDA	16118205
GO:0005524	ATP binding	IEA	--

NMNAT2 for ontologies About GeneDecksing

Animal Models:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NMNAT2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Nicotinate metabolism

Nicotinate metabolism	1.00	NAD salvage pathway III	0.30
NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde	0.62	NAD salvage pathway II	0.18
NAD biosynthesis III	0.50

NAD metabolism

	NAD metabolism	1.00			Nicotinate and nicotinamide metabolism	0.43
	NAD metabolism	1.00

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Vitamin B5 (pantothenate) metabolism

Metabolism of vitamins and cofactors

0.21

Metabolism of water-soluble vitamins and cofactors

0.21

tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde

NAD biosynthesis II (from tryptophan)

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for NMNAT2

NAD metabolism

1 GeneGo (Thomson Reuters) Pathway for NMNAT2

NAD metabolism

5 BioSystems Pathways for NMNAT2

	NAD salvage pathway III
	NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde
	NAD biosynthesis II (from tryptophan)
	NAD biosynthesis III
	NAD salvage pathway II

4 Reactome Pathways for NMNAT2

	Nicotinate metabolism
	Metabolism
	Metabolism of vitamins and cofactors
	Metabolism of water-soluble vitamins and cofactors

2 Kegg Pathways (Kegg details for NMNAT2):

	Nicotinate and nicotinamide metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: NMNA2_HUMAN, Q9BZQ4

Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1

NMNAT2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NMNAT2

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

5/20 Interacting proteins for NMNAT2 (ENSP00000287713⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CD38	ENSP00000226279⁴	STRING: ENSP00000226279
ENPP1	ENSP00000354238⁴	STRING: ENSP00000354238
ENPP3	ENSP00000350265⁴	STRING: ENSP00000350265
NADK	ENSP00000341679⁴	STRING: ENSP00000341679
NADSYN1	ENSP00000326424⁴	STRING: ENSP00000326424

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006766	vitamin metabolic process	TAS	--
GO:0006767	water-soluble vitamin metabolic process	TAS	--
GO:0009435	NAD biosynthetic process	IEA	--
GO:0019674	NAD metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

NMNAT2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NMNAT2

9 HMDB Compounds for NMNAT2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
Nicotinamide ribotide	3-(aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt (see all 15)	1094-61-7	--
Nicotinic acid adenine dinucleotide	NAAD (see all 9)	6450-77-7	--
Nicotinic acid mononucleotide	3-Carboxy-1-beta-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt (see all 23)	321-02-8	--
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--

Search CenterWatch for drugs/clinical trials and news about NMNAT2 / NMNA2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NMNAT2 gene (2 alternative transcripts):

NM_015039.3 NM_170706.3

Unigene Cluster for NMNAT2:

Nicotinamide nucleotide adenylyltransferase 2

Hs.497123 [show with all ESTs]

Unigene Representative Sequence: AF288395

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000287713(uc001gqc.2) ENST00000294868(uc009wye.2 uc001gqb.2)

ENST00000464047 ENST00000473046(uc001gqd.3)

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Additional cDNA sequence:

AB007948.1 AF086038.1 AF288395.1 AK291390.1 AK309461.1 BC016726.1 BC020998.2 BC037251.1

12 DOTS entries:

DT.109124 DT.92052193 DT.92469980 DT.100741669 DT.100767485 DT.95210593 DT.100684051 DT.95286302

DT.121423733 DT.95156124 DT.97781868 DT.121423718

24/71 AceView cDNA sequences (see all 71):

AL522207 BC016726 AA984667 AL542337 AA984639 BC020998 AI656857 CB960361

AL044819 NM_170706 AI989612 AA976626 NM_015039 CF529788 BC037251 BG056366

CA446952 AA588602 BE797007 BX354991 AW071638 BI832335 AA625889 BI493003

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NMNAT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCAAGAGTT

About this image

NMNAT2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Brain

Eye

Neural Tube

Neural Tube

Neural Tube

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NMNAT2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NMNAT2

SOURCE GeneReport for Unigene cluster: Hs.497123

UniProtKB/Swiss-Prot: NMNA2_HUMAN, Q9BZQ4

Tissue specificity: Highly expressed in brain, in particular in cerebrum, cerebellum, occipital lobe, frontal lobe,

temporal lobe and putamen. Also found in the heart, skeletal muscle, pancreas and islets of Langerhans

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NMNAT2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for NMNAT2 gene from 7/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	NMNAT2¹	nicotinamide nucleotide adenylyltransferase 2	85.45(n) 93.49(a)		771393 XM_001234669.2 XP_001234670.1
lizard (Anolis carolinensis)	Reptilia	NMNAT2⁶	--	94(a)	1 ↔ 1	GL343203.1(4269494-4311101)
zebrafish (Danio rerio)	Actinopterygii	BC059430.1²	--	80.22(n)		336257 BC059430.1
honey bee (Apis mellifera)	Insecta	--	--	4(a)	possible ortholog	GroupUn.239(19183-21852)
worm (Caenorhabditis elegans)	Secernentea	W06B3.1⁶ F26H9.4⁶	Uncharacterized protein F26H9.4	37(a) 35(a)	possible ortholog possible ortholog	X(12014186-12016108) I(9305742-9306838)
thale cress (Arabidopsis thaliana)	eudicotyledons	NMNAT⁶	nicotinamide mononucleotide adenylyltransferase	29(a)	1 → many	5(22583985-22586347)
rice (Oryza sativa)	Liliopsida	-- --	cytidylyltransferase domain containing protein, ex... cytidylyltransferase domain containing protein, ex...	37(a) 27(a)	many ↔ many many ↔ many	9(10927395-10929717) 2(34909922-34912117)

ENSEMBL Gene Tree for NMNAT2 (if available)
TreeFam Gene Tree for NMNAT2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for NMNAT2 gene

NMNAT3² NMNAT1²

2 SIMAP similar genes for NMNAT2 using alignment to 1 protein entry: NMNA2_HUMAN:

NMNAT1 NMNAT3

NMNAT2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs149250806^1,2	C	other	183255921(+)	`GTCACA/C/TCTCTA`	6	R S	syn¹ mis¹		1		NA	4548
rs61634781^1,2	C,F	--	183216981(+)	`AAGTTC/TTGTTT`	2	--	ds500¹		4		WA CSA	124
rs186356177^1,2		--	183217004(+)	`TTCAAA/GCTAAA`	2	--	ds500¹		0	--	--	--	--
rs142730520^1,2		--	183217042(+)	`AATATA/CATTTT`	2	--	ds500¹		0	--	--	--	--
rs191098333^1,2		--	183217111(+)	`AATTAA/GTCAAG`	2	--	ds500¹		0	--	--	--	--
rs75537189^1,2	F	--	183217216(+)	`ACATAC/ATTTTA`	2	--	ds500¹		1		WA	118
rs183258503^1,2		--	183217222(+)	`TTTTAC/TATAAC`	2	--	ds500¹		0	--	--	--	--
rs501879^1,2	C,F,O,H	--	183217278(-)	`GTAAAA/GATGTA`	2	--	ds500¹		97		EA NA NS PA EU CA WA CSA	5430
rs3738820^1,2	C	--	183217379(-)	`CAATGC/TTACAA`	2	--	ut3¹		0	--	--	--	--
rs188678041^1,2	C	--	183217494(+)	`AACTTA/GAATAT`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NMNAT2 (183217372 - 183387737 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NMNAT2: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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NMNAT2 for disorders           About GeneDecksing

OMIM gene information: 608701    OMIM disorders: --

2 diseases for NMNAT2:    About MalaCards

prostate cancer prostatitis

Human Genome Epidemiology (HuGE) Navigator: NMNAT2 (2 documents)

Export disorders for NMNAT2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for NMNAT2 gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with NMNAT2)

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Identification of a novel human nicotinamide mononucleotide adenylyltransferase. (PubMed id 12359228)^{1, 2, 3} Raffaelli N.... Magni G. (2002)
Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PubMed id 11318611)^{1, 2, 3} Sood R....Carpten J.D. (2001)
Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas. (PubMed id 14516279)^{1, 2, 9} Yalowitz J.A.... Jayaram H.N. (2004)
Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis. (PubMed id 17402747)^{1, 2} Sorci L.... Magni G. (2007)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. (PubMed id 16118205)^{1, 2} Berger F.... Ziegler M. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)^{1, 2} Seki N.... Ohara O. (1997)
CREB-activity and nmnat2 transcription are down-regula ted prior to neurodegeneration, while NMNAT2 over-expression is neuroprotective, in a mouse model of human tauopathy. (PubMed id 22027994)¹ Ljungberg M.C....Lu H.C. (2012)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 23057	HGNC: 16789	AceView: NMNAT2	Ensembl:ENSG00000157064	euGenes: HUgn23057
ECgene: NMNAT2	Kegg: 23057	H-InvDB: NMNAT2

(According to HUGE)
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HUGE: KIAA0479

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NMNAT2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NMNAT2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NMNAT2 gene:
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GeneCards and IP:
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nicotinamide nucleotide adenylyltransferase 2

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NMNAT2 Gene

nicotinamide nucleotide adenylyltransferase 2

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