NMNAT2 - nicotinamide nucleotide adenylyltransferase 2 Gene

Homo sapiens

Also known as PNAT2; C1orf15

Gene ID: 23057 | Gene type: protein coding

About NMNAT2

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:183,248,237-183,418,380 (from NCBI)

This gene has 4 transcripts (splice variants), 212 orthologues and 2 paralogues. Biased expression in brain (RPKM 32.6), heart (RPKM 7.5) and 5 other tissues.

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]

NMNAT2 Products(2)

mRNA	Protein	Name
NM_015039.4	NP_055854.1	nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 1
NM_170706.4	NP_733820.1	nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables nicotinate-nucleotide adenylyltransferase activity	IDA IDA: Inferred from direct assay	16118205	GOA
enables protein ADP-ribosyltransferase-substrate adaptor activity	IDA IDA: Inferred from direct assay	34314702	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of cytoplasmic translation	IDA IDA: Inferred from direct assay	34314702	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	16118205	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NMNAT2 Protein Structure

CTP_transf_like

0
100
200
307 a.a.

Protein Preferred Names

Protein Names

nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2

NMN adenylyltransferase 2

Related Diseases

Diseases

Alias

Wallerian Degeneration

Wallerian Degeneration Of The Pyramidal Tract

Erythromelalgia

Primary Erythromelalgia	Erythermalgia
Primary Erythermalgia	Mitchell Disease
Familial Erythromelalgia

Leber Congenital Amaurosis 9

LCA9	Leber Congenital Amaurosis, Type 9

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09383	NMNAT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NMNAT2	VGNC	VGNC:32133
Mus musculus	NMNAT2	MGD	MGI:2444155
Felis catus	NMNAT2	VGNC	VGNC:107905
Macaca mulatta	NMNAT2	VGNC	VGNC:75193
Rattus norvegicus	NMNAT2	RGD	RGD:1307331
Canis familiaris	NMNAT2	VGNC	VGNC:43863

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