Seroatlas · Human Serome Atlas

NMNAT2

Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2

Also known as: C1orf15, KIAA0479, NMNA2_HUMAN, PNAT2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BZQ4
Gene
NMNAT2
Ensembl
ENSG00000157064
Chromosome
1
Canonical length
307 aa
Protein class
Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

307 residues, UniProt reviewed canonical sequence.

>Q9BZQ4|NMNAT2
     1  MTETTKTHVI LLACGSFNPI TKGHIQMFER ARDYLHKTGR FIVIGGIVSP VHDSYGKQGL
    61  VSSRHRLIMC QLAVQNSDWI RVDPWECYQD TWQTTCSVLE HHRDLMKRVT GCILSNVNTP
   121  SMTPVIGQPQ NETPQPIYQN SNVATKPTAA KILGKVGESL SRICCVRPPV ERFTFVDENA
   181  NLGTVMRYEE IELRILLLCG SDLLESFCIP GLWNEADMEV IVGDFGIVVV PRDAADTDRI
   241  MNHSSILRKY KNNIMVVKDD INHPMSVVSS TKSRLALQHG DGHVVDYLSQ PVIDYILKSQ
   301  LYINASG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NMNAT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
80 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 80 nTPM
  • cerebral cortex: 47 nTPM
  • basal ganglia: 35 nTPM
  • hypothalamus: 26 nTPM
  • amygdala: 18 nTPM
  • pituitary gland: 18 nTPM

Single-cell type

  • brain excitatory neurons: 316 nCPM
  • brain inhibitory neurons: 314 nCPM
  • retinal ganglion cells: 313 nCPM
  • lactotrophs: 267 nCPM
  • thyrotrophs: 261 nCPM
  • other brain neurons: 254 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 166 nTPM
  • hypothalamus: 110 nTPM
  • cerebellum: 102 nTPM
  • basal ganglia: 96 nTPM
  • white matter: 90 nTPM
  • pons: 87 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NMNAT2.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 35 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.27
gnomAD pLI
0.99
gnomAD missense Z
2.1
DepMap mean gene effect
0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NMNAT2 as an antibody target. Whether an autoantibody or antibody against NMNAT2 could matter depends on whether native NMNAT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NMNAT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NMNAT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NMNAT2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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