Aliases for NMRK2 Gene

Aliases for NMRK2 Gene

  • Nicotinamide Riboside Kinase 2 2 3 4 5
  • MIBP 2 3 4
  • NRK2 2 3 4
  • Muscle-Specific Beta 1 Integrin Binding Protein 2 3
  • Integrin Beta-1-Binding Protein 3 3 4
  • Nicotinic Acid Riboside Kinase 2 3 4
  • Ribosylnicotinic Acid Kinase 2 3 4
  • Ribosylnicotinamide Kinase 2 3 4
  • ITGB1BP3 3 4
  • NmR-K 2 3 4
  • NRK 2 3 4
  • RNK 2 3 4
  • Integrin Beta 1 Binding Protein 3 2
  • Muscle Integrin-Binding Protein 4
  • EC 4
  • EC 4
  • NMRK2 5

External Ids for NMRK2 Gene

Previous HGNC Symbols for NMRK2 Gene

  • ITGB1BP3

Summaries for NMRK2 Gene

GeneCards Summary for NMRK2 Gene

NMRK2 (Nicotinamide Riboside Kinase 2) is a Protein Coding gene. Diseases associated with NMRK2 include Cat-Scratch Disease and Myasthenic Syndrome, Congenital, 7, Presynaptic. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and NAD metabolism. Gene Ontology (GO) annotations related to this gene include ribosylnicotinamide kinase activity. An important paralog of this gene is NMRK1.

UniProtKB/Swiss-Prot Summary for NMRK2 Gene

  • 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.

Gene Wiki entry for NMRK2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NMRK2 Gene

Genomics for NMRK2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NMRK2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J003932 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 258.5 +0.8 832 2.2 POLR2A ZIC2 SP2 EZH2 TAF1 GLIS1 ZNF398 SP7 EGR1 KLF1 NMRK2 HSALNG0123313 lnc-DAPK3-3 DAPK3
GH19J003131 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.4 -798.6 -798645 8.4 SP1 ZNF592 ZIC2 BCL11A TRIM22 GABPA RXRA IRF4 TAL1 ZNF316 GNA15 NMRK2 FZR1 AC005262 ENSG00000266944 LOC390876 lnc-AES-7 lnc-GNA15-1 GNA15-DT GNA11
GH19J003140 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -791.2 -791221 3.3 JUND ZNF316 EBF1 SMARCA5 ZFP91 CBX1 SPI1 POLR2A HDAC2 MAFK GNA15 NMRK2 lnc-AES-7 GNA15-DT S1PR4
GH19J003923 Enhancer 0.5 FANTOM5 2.8 -9.4 -9370 0.2 EHMT2 ZNF366 EGR2 ZNF791 ZBTB17 ZFHX2 lnc-DAPK3-4 lnc-NMRK2-2 APBA3 CACTIN ENSG00000269807 NMRK2 ATCAY
GH19J003965 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.3 +35.9 35867 6.1 SP1 IKZF1 ZNF600 JUND ATF2 POLR2A ATF3 YY1 MXD4 NONO DAPK3 ENSG00000267030 CACTIN YJU2 ENSG00000267769 FZR1 APBA3 ENSG00000267205 ENSG00000269318 C19orf71
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NMRK2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NMRK2

Genomic Locations for NMRK2 Gene

Latest Assembly
9,348 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
9,348 bases
Plus strand

(GRCh37/hg19 by Ensembl)
9,314 bases
Plus strand

Genomic View for NMRK2 Gene

Genes around NMRK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NMRK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NMRK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NMRK2 Gene

Proteins for NMRK2 Gene

  • Protein details for NMRK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Nicotinamide riboside kinase 2
    Protein Accession:
    Secondary Accessions:
    • B7ZKR3
    • Q52M81
    • Q9NZK3

    Protein attributes for NMRK2 Gene

    230 amino acids
    Molecular mass:
    26046 Da
    Quaternary structure:
    • Monomer (By similarity). Interacts with ITGB1 alone or when associated with alpha-7, but not with alpha-5.
    • Sequence=AAF26711.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for NMRK2 Gene


neXtProt entry for NMRK2 Gene

Post-translational modifications for NMRK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NMRK2 Gene

Domains & Families for NMRK2 Gene

Gene Families for NMRK2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NMRK2 Gene


Suggested Antigen Peptide Sequences for NMRK2 Gene

GenScript: Design optimal peptide antigens:
  • ITGB1BP3 protein (B7ZKR3_HUMAN)
  • Ribosylnicotinic acid kinase 2 (NRK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the uridine kinase family. NRK subfamily.
  • Belongs to the uridine kinase family. NRK subfamily.
genes like me logo Genes that share domains with NMRK2: view

Function for NMRK2 Gene

Molecular function for NMRK2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + beta-nicotinamide D-riboside = ADP + beta-nicotinamide D-ribonucleotide + H(+); Xref=Rhea:RHEA:14017, ChEBI:CHEBI:14649, ChEBI:CHEBI:15378, ChEBI:CHEBI:15927, ChEBI:CHEBI:30616, ChEBI:CHEBI:456216; EC=; Evidence={ECO:0000269|PubMed:17914902};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + beta-D-ribosylnicotinate = ADP + H(+) + nicotinate beta-D-ribonucleotide; Xref=Rhea:RHEA:25568, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57502, ChEBI:CHEBI:58527, ChEBI:CHEBI:456216; EC=; Evidence={ECO:0000269|PubMed:17914902};.
UniProtKB/Swiss-Prot Induction:
Down-regulated during myoblast differentiation.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.19 mM for nicotinamide riboside (with ATP as cosubstrate) {ECO:0000269|PubMed:17914902}; KM=30 mM for nicotinamide riboside (with GTP as cosubstrate) {ECO:0000269|PubMed:17914902}; KM=0.11 mM for tiazofurin (with ATP as cosubstrate) {ECO:0000269|PubMed:17914902}; KM=0.063 mM for nicotinic acid riboside (with ATP as cosubstrate) {ECO:0000269|PubMed:17914902}; KM=1.3 mM for uridine (with ATP as cosubstrate) {ECO:0000269|PubMed:17914902};

Enzyme Numbers (IUBMB) for NMRK2 Gene

Phenotypes From GWAS Catalog for NMRK2 Gene

Gene Ontology (GO) - Molecular Function for NMRK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 12809483
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IBA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with NMRK2: view
genes like me logo Genes that share phenotypes with NMRK2: view

Animal Models for NMRK2 Gene

MGI Knock Outs for NMRK2:
  • Nmrk2 Nmrk2<tm1(KOMP)Vlcg>
  • Nmrk2 Nmrk2<tm1.1(KOMP)Vlcg>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NMRK2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NMRK2 Gene

Localization for NMRK2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NMRK2 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NMRK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with NMRK2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NMRK2 Gene

Pathways & Interactions for NMRK2 Gene

genes like me logo Genes that share pathways with NMRK2: view

Pathways by source for NMRK2 Gene

1 GeneGo (Thomson Reuters) pathway for NMRK2 Gene
  • NAD metabolism

UniProtKB/Swiss-Prot Q9NPI5-NRK2_HUMAN

  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis.

Gene Ontology (GO) - Biological Process for NMRK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009435 NAD biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
GO:0019363 pyridine nucleotide biosynthetic process IEA --
GO:0019674 NAD metabolic process TAS --
GO:0045662 negative regulation of myoblast differentiation IEA --
genes like me logo Genes that share ontologies with NMRK2: view

No data available for SIGNOR curated interactions for NMRK2 Gene

Drugs & Compounds for NMRK2 Gene

(3) Drugs for NMRK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NAD Experimental Pharma 0
Nicotinamide riboside Investigational Pharma 0
ATP Investigational Nutra 0

(4) Additional Compounds for NMRK2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Nicotinamide ribotide
  • b-Nicotinamide D-ribonucleotide
  • β-Nicotinamide D-ribonucleotide
  • Mononucleotide, nicotinamide
  • Nicotinamide mononucleotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-D-ribofuranosyl)pyridinium
Nicotinic acid mononucleotide
  • beta-Nicotinate D-ribonucleotide
  • Nicotinate ribonucleotide
  • Nicotinic acid ribonucleotide
  • b-Nicotinate D-ribonucleotide
  • b-Nicotinic acid D-ribonucleotide
Nicotinic acid ribonucleoside
  • Nicotinic acid riboside
  • beta-D-Ribosylnicotinate
  • Nicotinate riboside
  • b-D-Ribosylnicotinate
  • b-D-Ribosylnicotinic acid
genes like me logo Genes that share compounds with NMRK2: view

Transcripts for NMRK2 Gene

mRNA/cDNA for NMRK2 Gene

10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NMRK2

Alternative Splicing Database (ASD) splice patterns (SP) for NMRK2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8
SP2: - -
SP3: - - - - -

Relevant External Links for NMRK2 Gene

GeneLoc Exon Structure for

Expression for NMRK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NMRK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NMRK2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x24.3), Heart - Left Ventricle (x20.8), and Muscle - Skeletal (x6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NMRK2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NMRK2

SOURCE GeneReport for Unigene cluster for NMRK2 Gene:


mRNA Expression by UniProt/SwissProt for NMRK2 Gene:

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.

Evidence on tissue expression from TISSUES for NMRK2 Gene

  • Heart(4.7)
  • Liver(4.2)
  • Muscle(3.3)
genes like me logo Genes that share expression patterns with NMRK2: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NMRK2 Gene

Orthologs for NMRK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NMRK2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NMRK2 29 30
  • 98.94 (n)
(Bos Taurus)
Mammalia ITGB1BP3 29 30
  • 90.43 (n)
(Rattus norvegicus)
Mammalia Nmrk2 29
  • 83.25 (n)
(Mus musculus)
Mammalia Nmrk2 29 16 30
  • 83.25 (n)
(Monodelphis domestica)
Mammalia NMRK2 30
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia NMRK2 30
  • 70 (a)
(Gallus gallus)
Aves LOC100858798 29
  • 79.32 (n)
NMRK2 30
  • 47 (a)
(Anolis carolinensis)
Reptilia -- 30
  • 58 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.6863 29
(Danio rerio)
Actinopterygii mibp 29 30
  • 67.01 (n)
nmrk2 30
  • 65 (a)
-- 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.717 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG12016 30
  • 22 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 33 (a)
Species where no ortholog for NMRK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NMRK2 Gene

Gene Tree for NMRK2 (if available)
Gene Tree for NMRK2 (if available)
Evolutionary constrained regions (ECRs) for NMRK2: view image
Alliance of Genome Resources:
Additional Orthologs for NMRK2

Paralogs for NMRK2 Gene

Paralogs for NMRK2 Gene

(2) SIMAP similar genes for NMRK2 Gene using alignment to 3 proteins:

  • M0QX67_HUMAN
  • M0R0T8_HUMAN
genes like me logo Genes that share paralogs with NMRK2: view

Variants for NMRK2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NMRK2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs144718564 Benign: not provided 3,938,694(+) C/T
NM_001289117.1(NMRK2):c.273C>T (p.Ser91=)
rs16992131 -- p.Glu178Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NMRK2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NMRK2 Gene

Variant ID Type Subtype PubMed ID
dgv6228n54 CNV loss 21841781
dgv6229n54 CNV gain+loss 21841781
dgv6230n54 CNV loss 21841781
esv26716 CNV loss 19812545
esv2673167 CNV deletion 23128226
esv2717977 CNV deletion 23290073
esv3643483 CNV loss 21293372
esv3643484 CNV loss 21293372
nsv1134745 CNV deletion 24896259
nsv833715 CNV loss 17160897

Variation tolerance for NMRK2 Gene

Residual Variation Intolerance Score: 81.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.38; 54.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NMRK2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NMRK2 Gene

Disorders for NMRK2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NMRK2 Gene - From: COP

Disorder Aliases PubMed IDs
cat-scratch disease
  • benign lymphoreticulosis
myasthenic syndrome, congenital, 7, presynaptic
  • cms7
- elite association - COSMIC cancer census association via MalaCards
Search NMRK2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NMRK2

genes like me logo Genes that share disorders with NMRK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NMRK2 Gene

Publications for NMRK2 Gene

  1. A novel muscle-specific beta 1 integrin binding protein (MIBP) that modulates myogenic differentiation. (PMID: 10613898) Li J … Wu C (The Journal of cell biology 1999) 2 3 4 22
  2. Discoveries of nicotinamide riboside as a nutrient and conserved NRK genes establish a Preiss-Handler independent route to NAD+ in fungi and humans. (PMID: 15137942) Bieganowski P … Brenner C (Cell 2004) 2 3 4
  3. The muscle integrin binding protein (MIBP) interacts with alpha7beta1 integrin and regulates cell adhesion and laminin matrix deposition. (PMID: 12941630) Li J … Wu C (Developmental biology 2003) 3 4 22
  4. Nicotinamide riboside kinase structures reveal new pathways to NAD+. (PMID: 17914902) Tempel W … Brenner C (PLoS biology 2007) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for NMRK2 Gene

Sources for NMRK2 Gene