NMRK2
protein-codingnicotinamide riboside kinase 2
Gene summary
Enables nicotinate riboside kinase activity and ribosylnicotinamide kinase activity. Predicted to be involved in nicotinate metabolic process. Predicted to act upstream of or within negative regulation of myoblast differentiation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]
- ITGB1BP3
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~9.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to NMRK2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_170678.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 1 | 3 | |||
| missense | 37 | 1 | 38 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 37 | 3 | 1 | 41 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_733778.1 | 7 | MANE Select | |
| Ensembl | ENSP00000168977.1 | 7 | MANE Select | |
| RefSeq | NP_001276046.1 | 7 | Standard | |
| RefSeq | NP_001362396.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Nicotinate and nicotinamide metabolism - Homo sapiens (human)
- Metabolism
- Nicotinate metabolism
- Metabolism of water-soluble vitamins and cofactors
- Metabolism of vitamins and cofactors
Biological Process
- NAD biosynthetic process
- phosphorylation
- NAD metabolic process
- negative regulation of myoblast differentiation
Molecular Function
- protein binding
- ATP binding
- metal ion binding
- ribosylnicotinamide kinase activity
- ribosylnicotinate kinase activity
Cellular Component
- nucleoplasm
- cytosol
- plasma membrane
- intracellular membrane-bounded organelle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000168977
- Coding exons
- 7
- Length
- 9314
- Individuals with no LoFs
- 125338
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 406
- Defined
- 125746
- p
- 0.00162
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.173 | 151 | 145 | 1.04 | 0.00000952 | 1481 |
| Missense (PolyPhen) | 34 | 33.296 | 1.0211 | 354 | ||
| Synonymous | -0.828 | 71 | 62.7 | 1.13 | 0.00000472 | 433 |
| Loss of Function | -1.48 | 15 | 9.96 | 1.51 | 4.24e-7 | 118 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0015 | 0.0014 | notable |
| Latino/Admixed American | 0.00022 | 0.00020 | rare |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.011 | 0.011 | notable |
| European (Non-Finnish) | 0.0010 | 0.0010 | notable |
| South Asian | 0.00020 | 0.00020 | rare |
| Other | 0.0030 | 0.0029 | notable |
dbNSFP Gene Annotations
Source:
- Function
- 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 not to fibronectin. Involved in the regulation of PXN at the protein level and of PXN tyrosine phosphorylation. May play a role in the regulation of terminal myogenesis. {ECO:0000269|PubMed:10613898, ECO:0000269|PubMed:15137942}.;
Recessive Scores
- pRec
- 0.142
Intolerance Scores
- RVIS EVS
- 0.24
- RVIS percentile EVS
- 69.37
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |