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NMNAT2 nicotinamide nucleotide adenylyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 23057, updated on 6-May-2021

Summary

Official Symbol
NMNAT2provided by HGNC
Official Full Name
nicotinamide nucleotide adenylyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:16789
See related
Ensembl:ENSG00000157064 MIM:608701
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PNAT2; C1orf15
Summary
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]
Expression
Biased expression in brain (RPKM 32.6), heart (RPKM 7.5) and 5 other tissues See more
Orthologs
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Genomic context

See NMNAT2 in Genome Data Viewer
Location:
1q25.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (183248237..183418380, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (183217372..183387515, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene laminin subunit gamma 1 Neighboring gene LAMC1 antisense RNA 1 Neighboring gene laminin subunit gamma 2 Neighboring gene RPS3A pseudogene 8 Neighboring gene uncharacterized LOC105371646 Neighboring gene SMG7 antisense RNA 1 Neighboring gene SMG7 nonsense mediated mRNA decay factor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
GeneReviews: Not available
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2756, KIAA0479

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables nicotinamide-nucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables nicotinate-nucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables nicotinate-nucleotide adenylyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in NAD biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in NAD biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in NAD metabolic process TAS
Traceable Author Statement
more info
 
involved_in nucleotide biosynthetic process IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in axon IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in late endosome IEA
Inferred from Electronic Annotation
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
located_in trans-Golgi network IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2
Names
NMN adenylyltransferase 2
NMN/NaMN adenylyltransferase 2
NaMN adenylyltransferase 2
nicotinamide mononucleotide adenylyltransferase 2
nicotinate-nucleotide adenylyltransferase 2
pyridine nucleotide adenylyltransferase 2
NP_055854.1
NP_733820.1
XP_024310045.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015039.4NP_055854.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 1

    See identical proteins and their annotated locations for NP_055854.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF288395, AL354953, BI493003
    Consensus CDS
    CCDS1353.1
    UniProtKB/Swiss-Prot
    Q9BZQ4
    Related
    ENSP00000287713.6, ENST00000287713.7
    Conserved Domains (1) summary
    cd09286
    Location:9302
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
  2. NM_170706.4NP_733820.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 2

    See identical proteins and their annotated locations for NP_733820.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AL354953, BC020998, BI493003
    Consensus CDS
    CCDS1354.1
    UniProtKB/Swiss-Prot
    Q9BZQ4
    Related
    ENSP00000294868.4, ENST00000294868.8
    Conserved Domains (1) summary
    cd09286
    Location:24297
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    183248237..183418380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454277.1XP_024310045.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform X1

    Conserved Domains (1) summary
    cl00015
    Location:1234
    nt_trans; nucleotidyl transferase superfamily
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