NMRK2 (nicotinamide riboside kinase 2)

Gene

• Entrez ID: 27231
• Gene name: Nicotinamide riboside kinase 2
• Gene symbol: NMRK2
• Synonyms (NCBI Gene): ITGB1BP3, MIBP, NRK2
• Chromosome: 19
• Chromosome location: 19p13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025069	hsa-miR-181a-5p	Microarray	17612493
MIRT028997	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	12809483
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006741	Process	NADP+ biosynthetic process	IEA
GO:0009435	Process	NAD+ biosynthetic process	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019363	Process	Pyridine nucleotide biosynthetic process	IEA
GO:0019674	Process	NAD+ metabolic process	IEA
GO:0019674	Process	NAD+ metabolic process	TAS
GO:0034317	Function	Nicotinate riboside kinase activity	IEA
GO:0034355	Process	NAD+ biosynthetic process via the salvage pathway	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050262	Function	Ribosylnicotinamide kinase activity	EXP	15137942, 17914902
GO:0050262	Function	Ribosylnicotinamide kinase activity	IBA
GO:0050262	Function	Ribosylnicotinamide kinase activity	IEA
GO:0061769	Function	Ribosylnicotinate kinase activity	EXP	15137942, 17914902
GO:0061769	Function	Ribosylnicotinate kinase activity	IBA
GO:0061769	Function	Ribosylnicotinate kinase activity	IEA

Other IDs

• MIM: 608705
• HGNC: 17871
• e!Ensembl: ENSG00000077009

Protein

• UniProt ID: Q9NPI5
• Protein name: Nicotinamide riboside kinase 2 (NRK 2) (NmR-K 2) (EC 2.7.1.22) (Integrin beta-1-binding protein 3) (Muscle integrin-binding protein) (MIBP) (Nicotinic acid riboside kinase 2) (EC 2.7.1.173) (Ribosylnicotinamide kinase 2) (RNK 2) (Ribosylnicotinic acid kin
• Protein function: Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). Reduces laminin matrix deposition and cell adhesion to laminin, but
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13238	AAA_18	5 → 162		Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and, at a much lower level, in the heart (at protein level). No expression in brain, kidney, liver, lung, pancreas nor placenta. {ECO:0000269|PubMed:10613898}.
• Sequence:

  MKLIVGIGGMTNGGKTTLTNSLLRALPNCCVIHQDDFFKPQDQIAVGEDGFKQWDVLESL
  DMEAMLDTVQAWLSSPQKFARAHGVSVQPEASDTHILLLEGFLLYSYKPLVDLYSRRYFL
  TVPYEECKWRRSTRNYTVPDPPGLFDGHVWPMYQKYRQEMEANGVEVVYLDGMKSREELF
  REVLEDIQNSLLNRSQESAPSPARPARTQGPGRGCGHRTARPAASQQDSM

• Sequence length: 230

Pathways

KEGG:

Nicotinate and nicotinamide metabolism
Metabolic pathways

Reactome:

Nicotinate metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	19146682	Associate	★☆☆☆☆ Found in Text Mining only