NMNAT2 (nicotinamide nucleotide adenylyltransferase 2)

Gene

• Entrez ID: 23057
• Gene name: Nicotinamide nucleotide adenylyltransferase 2
• Gene symbol: NMNAT2
• Synonyms: C1orf15, PNAT2
• Chromosome: 1
• Chromosome location: 1q25.3
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs768849266	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs775499191	->G	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021432	hsa-miR-9-5p	Microarray	17612493
MIRT023309	hsa-miR-122-5p	Microarray	17612493
MIRT040033	hsa-miR-615-3p	CLASH	23622248
MIRT040033	hsa-miR-615-3p	CLASH	23622248
MIRT620702	hsa-miR-4328	HITS-CLIP	23824327
MIRT620701	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT620700	hsa-miR-223-3p	HITS-CLIP	23824327
MIRT620699	hsa-miR-597-5p	HITS-CLIP	23824327
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT626551	hsa-miR-3915	HITS-CLIP	23824327
MIRT626550	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT626549	hsa-miR-4689	HITS-CLIP	23824327
MIRT626548	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT620698	hsa-miR-592	HITS-CLIP	23824327
MIRT626547	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT608051	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT635709	hsa-miR-6795-5p	HITS-CLIP	23824327
MIRT635708	hsa-miR-6887-5p	HITS-CLIP	23824327
MIRT635707	hsa-miR-328-5p	HITS-CLIP	23824327
MIRT635706	hsa-miR-6885-5p	HITS-CLIP	23824327
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT635705	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT635704	hsa-miR-1275	HITS-CLIP	23824327
MIRT635703	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT635702	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT635701	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT635700	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT635699	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT635698	hsa-miR-4260	HITS-CLIP	23824327
MIRT635697	hsa-miR-5572	HITS-CLIP	23824327
MIRT635696	hsa-miR-4455	HITS-CLIP	23824327
MIRT608051	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT620702	hsa-miR-4328	HITS-CLIP	23824327
MIRT620701	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT620700	hsa-miR-223-3p	HITS-CLIP	23824327
MIRT620699	hsa-miR-597-5p	HITS-CLIP	23824327
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT626551	hsa-miR-3915	HITS-CLIP	23824327
MIRT626550	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT626549	hsa-miR-4689	HITS-CLIP	23824327
MIRT626548	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT620698	hsa-miR-592	HITS-CLIP	23824327
MIRT626547	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT608051	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT620702	hsa-miR-4328	HITS-CLIP	23824327
MIRT620701	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT620700	hsa-miR-223-3p	HITS-CLIP	23824327
MIRT620699	hsa-miR-597-5p	HITS-CLIP	23824327
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT620698	hsa-miR-592	HITS-CLIP	23824327
MIRT608051	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT609015	hsa-miR-5089-3p	HITS-CLIP	24906430
MIRT608051	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT635704	hsa-miR-1275	HITS-CLIP	27418678
MIRT635704	hsa-miR-1275	HITS-CLIP	27418678
MIRT635704	hsa-miR-1275	HITS-CLIP	27418678
MIRT620700	hsa-miR-223-3p	HITS-CLIP	27418678
MIRT635707	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT635707	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT635707	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT635698	hsa-miR-4260	HITS-CLIP	27418678
MIRT635698	hsa-miR-4260	HITS-CLIP	27418678
MIRT635698	hsa-miR-4260	HITS-CLIP	27418678
MIRT635696	hsa-miR-4455	HITS-CLIP	27418678
MIRT635696	hsa-miR-4455	HITS-CLIP	27418678
MIRT635696	hsa-miR-4455	HITS-CLIP	27418678
MIRT635699	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT635699	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT635699	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT635703	hsa-miR-4665-5p	HITS-CLIP	27418678
MIRT635703	hsa-miR-4665-5p	HITS-CLIP	27418678
MIRT635703	hsa-miR-4665-5p	HITS-CLIP	27418678
MIRT620701	hsa-miR-4697-3p	HITS-CLIP	27418678
MIRT635697	hsa-miR-5572	HITS-CLIP	27418678
MIRT635697	hsa-miR-5572	HITS-CLIP	27418678
MIRT635697	hsa-miR-5572	HITS-CLIP	27418678
MIRT608051	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608051	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608051	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT620698	hsa-miR-592	HITS-CLIP	27418678
MIRT620699	hsa-miR-597-5p	HITS-CLIP	27418678
MIRT635705	hsa-miR-6740-5p	HITS-CLIP	27418678
MIRT635705	hsa-miR-6740-5p	HITS-CLIP	27418678
MIRT635705	hsa-miR-6740-5p	HITS-CLIP	27418678
MIRT635701	hsa-miR-6751-5p	HITS-CLIP	27418678
MIRT635701	hsa-miR-6751-5p	HITS-CLIP	27418678
MIRT635701	hsa-miR-6751-5p	HITS-CLIP	27418678
MIRT635709	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT635709	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT635709	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT635700	hsa-miR-6803-5p	HITS-CLIP	27418678
MIRT635700	hsa-miR-6803-5p	HITS-CLIP	27418678
MIRT635700	hsa-miR-6803-5p	HITS-CLIP	27418678
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT635706	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT635706	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT635706	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT635708	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT635708	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT635708	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT635702	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT635702	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT635702	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT620702	hsa-miR-4328	HITS-CLIP	23824327
MIRT620701	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT620700	hsa-miR-223-3p	HITS-CLIP	23824327
MIRT620699	hsa-miR-597-5p	HITS-CLIP	23824327
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT626551	hsa-miR-3915	HITS-CLIP	23824327
MIRT626550	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT626549	hsa-miR-4689	HITS-CLIP	23824327
MIRT626548	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT620698	hsa-miR-592	HITS-CLIP	23824327
MIRT626547	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT608051	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT635709	hsa-miR-6795-5p	HITS-CLIP	23824327
MIRT635708	hsa-miR-6887-5p	HITS-CLIP	23824327
MIRT635707	hsa-miR-328-5p	HITS-CLIP	23824327
MIRT635706	hsa-miR-6885-5p	HITS-CLIP	23824327
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT635705	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT635704	hsa-miR-1275	HITS-CLIP	23824327
MIRT635703	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT635702	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT635701	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT635700	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT635699	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT635698	hsa-miR-4260	HITS-CLIP	23824327
MIRT635697	hsa-miR-5572	HITS-CLIP	23824327
MIRT635696	hsa-miR-4455	HITS-CLIP	23824327
MIRT608051	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT620702	hsa-miR-4328	HITS-CLIP	23824327
MIRT620701	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT620700	hsa-miR-223-3p	HITS-CLIP	23824327
MIRT620699	hsa-miR-597-5p	HITS-CLIP	23824327
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT626551	hsa-miR-3915	HITS-CLIP	23824327
MIRT626550	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT626549	hsa-miR-4689	HITS-CLIP	23824327
MIRT626548	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT620698	hsa-miR-592	HITS-CLIP	23824327
MIRT626547	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT608051	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT620702	hsa-miR-4328	HITS-CLIP	23824327
MIRT620701	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT620700	hsa-miR-223-3p	HITS-CLIP	23824327
MIRT620699	hsa-miR-597-5p	HITS-CLIP	23824327
MIRT608050	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT620698	hsa-miR-592	HITS-CLIP	23824327
MIRT608051	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT1187807	hsa-miR-1268	CLIP-seq
MIRT1187808	hsa-miR-1268b	CLIP-seq
MIRT1187809	hsa-miR-129-5p	CLIP-seq
MIRT1187810	hsa-miR-1304	CLIP-seq
MIRT1187811	hsa-miR-2052	CLIP-seq
MIRT1187812	hsa-miR-219-2-3p	CLIP-seq
MIRT1187813	hsa-miR-223	CLIP-seq
MIRT1187814	hsa-miR-2964a-3p	CLIP-seq
MIRT1187815	hsa-miR-3120-3p	CLIP-seq
MIRT1187816	hsa-miR-3141	CLIP-seq
MIRT1187817	hsa-miR-3150b-3p	CLIP-seq
MIRT1187818	hsa-miR-330-3p	CLIP-seq
MIRT1187819	hsa-miR-425	CLIP-seq
MIRT1187820	hsa-miR-4462	CLIP-seq
MIRT1187821	hsa-miR-4477a	CLIP-seq
MIRT1187822	hsa-miR-4784	CLIP-seq
MIRT1187823	hsa-miR-587	CLIP-seq
MIRT1187824	hsa-miR-597	CLIP-seq
MIRT1187825	hsa-miR-1252	CLIP-seq
MIRT1187826	hsa-miR-1265	CLIP-seq
MIRT1187827	hsa-miR-141	CLIP-seq
MIRT1187828	hsa-miR-185	CLIP-seq
MIRT1187829	hsa-miR-200a	CLIP-seq
MIRT1187830	hsa-miR-3677-5p	CLIP-seq
MIRT1187831	hsa-miR-3942-3p	CLIP-seq
MIRT1187832	hsa-miR-4306	CLIP-seq
MIRT1187833	hsa-miR-4446-5p	CLIP-seq
MIRT1187834	hsa-miR-4644	CLIP-seq
MIRT1187835	hsa-miR-4684-3p	CLIP-seq
MIRT2054397	hsa-miR-1251	CLIP-seq
MIRT2054398	hsa-miR-1281	CLIP-seq
MIRT2054399	hsa-miR-138	CLIP-seq
MIRT2054400	hsa-miR-2278	CLIP-seq
MIRT2054401	hsa-miR-2355-5p	CLIP-seq
MIRT2054402	hsa-miR-2392	CLIP-seq
MIRT2054403	hsa-miR-3183	CLIP-seq
MIRT2054404	hsa-miR-3184	CLIP-seq
MIRT2054405	hsa-miR-3614-3p	CLIP-seq
MIRT2054406	hsa-miR-3619-3p	CLIP-seq
MIRT2054407	hsa-miR-423-5p	CLIP-seq
MIRT2054408	hsa-miR-4261	CLIP-seq
MIRT2054409	hsa-miR-4299	CLIP-seq
MIRT2054410	hsa-miR-4496	CLIP-seq
MIRT2054411	hsa-miR-4688	CLIP-seq
MIRT2054412	hsa-miR-4723-3p	CLIP-seq
MIRT2054413	hsa-miR-4779	CLIP-seq
MIRT2054414	hsa-miR-518d-5p	CLIP-seq
MIRT2054415	hsa-miR-519b-5p	CLIP-seq
MIRT2054416	hsa-miR-519c-5p	CLIP-seq
MIRT2054417	hsa-miR-520c-5p	CLIP-seq
MIRT2054418	hsa-miR-526a	CLIP-seq
MIRT2054419	hsa-miR-642a	CLIP-seq
MIRT2283485	hsa-miR-4269	CLIP-seq
MIRT2283486	hsa-miR-4514	CLIP-seq
MIRT2283487	hsa-miR-4692	CLIP-seq
MIRT2283488	hsa-miR-4742-5p	CLIP-seq
MIRT2283489	hsa-miR-210	CLIP-seq
MIRT2283490	hsa-miR-3064-5p	CLIP-seq
MIRT2054406	hsa-miR-3619-3p	CLIP-seq
MIRT2283491	hsa-miR-3661	CLIP-seq
MIRT2283492	hsa-miR-3690	CLIP-seq
MIRT2283493	hsa-miR-4776-5p	CLIP-seq
MIRT2283494	hsa-miR-619	CLIP-seq
MIRT2283495	hsa-miR-631	CLIP-seq
MIRT2581674	hsa-miR-3671	CLIP-seq
MIRT2581675	hsa-miR-4251	CLIP-seq
MIRT2581676	hsa-miR-4303	CLIP-seq
MIRT2581677	hsa-miR-4329	CLIP-seq
MIRT2581678	hsa-miR-4778-5p	CLIP-seq
MIRT2581679	hsa-miR-539	CLIP-seq
MIRT2581680	hsa-miR-607	CLIP-seq
MIRT2581681	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB1	Unknown	22027994

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0000309	Function	Nicotinamide-nucleotide adenylyltransferase activity	IBA	21873635
GO:0004515	Function	Nicotinate-nucleotide adenylyltransferase activity	IBA	21873635
GO:0004515	Function	Nicotinate-nucleotide adenylyltransferase activity	IDA	16118205
GO:0005524	Function	ATP binding	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	16118205
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005829	Component	Cytosol	IDA
GO:0009165	Process	Nucleotide biosynthetic process	IC	16118205
GO:0009435	Process	NAD biosynthetic process	IBA	21873635
GO:0009435	Process	NAD biosynthetic process	IEA
GO:0019674	Process	NAD metabolic process	TAS
GO:0030424	Component	Axon	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0045202	Component	Synapse	IEA

Other IDs

• MIM: 608701
• HGNC: 16789
• e!Ensembl: ENSG00000157064

Protein

• UniProt ID: Q9BZQ4
• Protein 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
• Protein function: Nicotinamide/nicotinate-nucleotide adenylyltransferase that acts as an axon maintenance factor (By similarity). Axon survival factor required for the maintenance of healthy axons: acts by delaying Wallerian axon degeneration, an evolutionarily c
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01467	CTP_transf_like	12 → 276	Cytidylyltransferase-like	Domain

• Sequence:

  MTETTKTHVILLACGSFNPITKGHIQMFERARDYLHKTGRFIVIGGIVSPVHDSYGKQGL
  VSSRHRLIMCQLAVQNSDWIRVDPWECYQDTWQTTCSVLEHHRDLMKRVTGCILSNVNTP
  SMTPVIGQPQNETPQPIYQNSNVATKPTAAKILGKVGESLSRICCVRPPVERFTFVDENA
  NLGTVMRYEEIELRILLLCGSDLLESFCIPGLWNEADMEVIVGDFGIVVVPRDAADTDRI
  MNHSSILRKYKNNIMVVKDDINHPMSVVSSTKSRLALQHGDGHVVDYLSQPVIDYILKSQ
  LYINASG

• Sequence length: 307

Pathways

KEGG:

Nicotinate and nicotinamide metabolism
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Nicotinate metabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Erythromelalgia	Erythromelalgia	rs80356475, rs80356474, rs80356478, rs80356476, rs80356469, rs80356473, rs1553491169	31132363, 31136762
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546	31136762, 23082226
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986	31136762, 23082226
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	16118205, 12574164, 25560765, 28035283, 21615689, 23082226, 14516279, 24840802, 21940452, 12359228, 22842230, 24284888, 20943658
Polyneuropathy	Polyneuropathy	rs1597597437	31136762, 31132363

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar hypoplasia	Cerebellar Hypoplasia		23082226, 31136762
Dysmorphic features	Dysmorphic features		21940452, 20943658, 23082226, 14516279, 12359228, 12574164, 16118205, 21615689, 24840802, 25560765, 28035283, 22842230, 24284888
Hydropic placenta	Hydrops of placenta		31136762, 23082226
Lupus erythematosus	Lupus Erythematosus, Systemic		18204446, 28714469
Cystic hygroma	Lymphangioma, Cystic		23082226, 31136762
Micrognathism	Micrognathism		23082226, 31136762