• Gene id: 23057

Gene Summary

• Gene Symbol: NMNAT2   Gene   UCSC   Ensembl
• Aliases: C1orf15, PNAT2
• Gene name: nicotinamide nucleotide adenylyltransferase 2
• Alternate names: nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2, NMN adenylyltransferase 2, NMN/NaMN adenylyltransferase 2, NaMN adenylyltransferase 2, nicotinamide mononucleotide adenylyltransferase 2, nicotinate-nucleotide adenylyltransferase 2, pyridine nuc,
• Gene location: 1q25.3 (183418379: 183248236)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 610403

Protein Summary

• Protein general information: Q9BZQ4  
  • Name: Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 (NMN/NaMN adenylyltransferase 2) (EC 2.7.7.1) (EC 2.7.7.18) (Nicotinamide mononucleotide adenylyltransferase 2) (NMN adenylyltransferase 2) (Nicotinate nucleotide adenylyltransferase 2) (NaM
  • Length: 307  
  • Mass: 34439
  • 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. {ECO
• Sequence:

  MTETTKTHVILLACGSFNPITKGHIQMFERARDYLHKTGRFIVIGGIVSPVHDSYGKQGLVSSRHRLIMCQLAVQ
  NSDWIRVDPWECYQDTWQTTCSVLEHHRDLMKRVTGCILSNVNTPSMTPVIGQPQNETPQPIYQNSNVATKPTAA
  KILGKVGESLSRICCVRPPVERFTFVDENANLGTVMRYEEIELRILLLCGSDLLESFCIPGLWNEADMEVIVGDF
  GIVVVPRDAADTDRIMNHSSILRKYKNNIMVVKDDINHPMSVVSSTKSRLALQHGDGHVVDYLSQPVIDYILKSQ
  LYINASG

• Structural information:
  • Interpro: IPR004821  
  • DIP: 60169
  • STRING: ENSP00000287713
• Other Databases: GeneCards:  NMNAT2  Malacards:  NMNAT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0009435	NAD biosynthetic process	IBA	biological process
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	IBA	molecular function
GO:0000309	nicotinamide-nucleotide adenylyltransferase activity	IBA	molecular function
GO:0009058	biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0019363	pyridine nucleotide biosynthetic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000309	nicotinamide-nucleotide adenylyltransferase activity	IEA	molecular function
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0019674	NAD metabolic process	TAS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0009435	NAD biosynthetic process	IEA	biological process
GO:0009165	nucleotide biosynthetic process	IC	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00760	Nicotinate and nicotinamide metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray