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NMRK2 Gene(Protein Coding)

Nicotinamide Riboside Kinase 2

GCID:
GC19P003933
GIFtS:
45
Genes Participants
UDN Logo

Aliases for NMRK2 Gene

Aliases for NMRK2 Gene

  • Nicotinamide Riboside Kinase 2 2 2 3 5
  • 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
  • NRK2 3 4
  • MIBP 3 4
  • Integrin Beta 1 Binding Protein 3 2
  • Muscle Integrin-Binding Protein 4
  • EC 2.7.1.173 4
  • EC 2.7.1.22 4

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. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include ribosylnicotinamide kinase activity. An important paralog of this gene is NMRK1.

UniProtKB/Swiss-Prot 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

Additional gene information for NMRK2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NMRK2 Gene

Genomics for NMRK2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for NMRK2 Gene

Promoters and enhancers for NMRK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19I003932 Promoter/Enhancer 1.2 EPDnew ENCODE 558.6 +0.4 375 1 KLF1 USF1 KLF17 ZNF195 ZIC2 HIC1 ZFHX2 GLIS2 POLR2A PATZ1 NMRK2 PIR50829
GH19I003131 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.4 -798.7 -798679 8.4 PKNOX1 ATF1 IRF4 TCF12 ZNF766 ZNF143 ATF7 RUNX3 JUNB ZC3H11A GNA15 APBA3 SF3A2 ZNF77 CACTIN-AS1 CACTIN ENSG00000267139 DOT1L SPPL2B ENSG00000267138
GH19I003140 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -791.3 -791255 3.3 HDAC1 NFXL1 SCRT2 ETV6 FOS IKZF2 RUNX3 SMARCA5 PHF21A NR2F2 GNA15 NMRK2 LOC100996351 GC19P003153 GC19P003154
GH19I003923 Enhancer 0.5 FANTOM5 2.8 -9.4 -9404 0.2 ZFHX2 ZNF791 ZNF366 EGR2 ZBTB17 APBA3 CACTIN ENSG00000269807 NMRK2 GC19P003927 RN7SL202P ATCAY
GH19I003949 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.4 +19.1 19100 5.7 PKNOX1 TCF12 ZNF766 GATA2 ATF7 ZNF263 NCOA1 ZNF592 MBD2 GMEB1 PIR50829 NMRK2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NMRK2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NMRK2 Gene

Genomic Locations for NMRK2 Gene
chr19:3,933,103-3,942,416
(GRCh38/hg38)
Size:
9,314 bases
Orientation:
Plus strand
chr19:3,933,101-3,942,414
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for NMRK2 Gene

Proteins for NMRK2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    Q9NPI5-NRK2_HUMAN
    Recommended name:
    Nicotinamide riboside kinase 2
    Protein Accession:
    Q9NPI5
    Secondary Accessions:
    • B7ZKR3
    • Q52M81
    • Q9NZK3

    Protein attributes for NMRK2 Gene

    Size:
    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.
    SequenceCaution:
    • Sequence=AAF26711.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for NMRK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NMRK2 Gene

Protein Expression for NMRK2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NMRK2 Gene

No Post-translational modifications

Other Protein References for NMRK2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NMRK2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPI5

UniProtKB/Swiss-Prot:

NRK2_HUMAN :
  • Belongs to the uridine kinase family. NRK subfamily.
Family:
  • Belongs to the uridine kinase family. NRK subfamily.
genes like me logo Genes that share domains with NMRK2: view

Function for NMRK2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for NMRK2 Gene

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};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-(beta-D-ribofuranosyl)-nicotinamide = ADP + beta-nicotinamide D-ribonucleotide.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + beta-D-ribosylnicotinate = ADP + nicotinate beta-D-ribonucleotide.
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 Induction:
Down-regulated during myoblast differentiation.

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:0005515 protein binding IPI 12809483
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding 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:

Animal Model Products

CRISPR Products

miRNA for NMRK2 Gene

miRTarBase miRNAs that target NMRK2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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

COMPARTMENTS
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
cytosol 5
plasma membrane 4
nucleus 4
mitochondrion 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:0005622 intracellular IEA --
GO:0005654 nucleoplasm IDA --
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

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

Products:

  1. Drug

(2) Drugs for NMRK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist 0
NAD Pharma Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 Full agonist, Agonist 58-64-0
beta-nicotinamide D-ribonucleotide
Nicotinamide riboside
  • 1-(beta-D-Ribofuranosyl)nicotinamide
  • 1-b-D-Ribosyl-3-Pyridinecarboxamide
  • 1-beta-D-Ribosyl-3-Pyridinecarboxamide
  • 1-beta-delta-Ribosyl-3-Pyridinecarboxamide
  • 3-(Aminocarbonyl)-1-beta-D-ribofuranosyl-Pyridinium
 1341-23-7
nicotinate beta-D-ribonucleotide
Nicotinate D-ribonucleoside
  • D-Ribosylnicotinate
  • Nicotinate riboside
  • Nicotinic acid ribose
  • Nicotinic acid riboside
  • Ribosylnicotinate
genes like me logo Genes that share compounds with NMRK2: view

Transcripts for NMRK2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NMRK2 Gene

(6) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(34) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NMRK2 Gene

Nicotinamide riboside kinase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NMRK2

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8
SP1:
SP2: - -
SP3: - - - - -

Relevant External Links for NMRK2 Gene

GeneLoc Exon Structure for
NMRK2
ECgene alternative splicing isoforms for
NMRK2

Expression for NMRK2 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for NMRK2 Gene
mRNA expression by GTEx for NMRK2 GenemRNA expression by BioGPS 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, PaxDb, and MOPED for NMRK2 Gene



NURSA nuclear receptor signaling pathways regulating expression of NMRK2 Gene:

NMRK2

SOURCE GeneReport for Unigene cluster for NMRK2 Gene:

Hs.135458

mRNA Expression by UniProt/SwissProt for NMRK2 Gene:

Q9NPI5-NRK2_HUMAN
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(4.6)
  • Liver(4)
  • Muscle(2.9)
  • Urine(2.6)
genes like me logo Genes that share expression patterns with NMRK2: view

Primer Products

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
chimpanzee
(Pan troglodytes)
 Mammalia NMRK2 33 34
  • 98.94 (n)
cow
(Bos Taurus)
 Mammalia ITGB1BP3 34 33
  • 90.43 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Nmrk2 33 16 34
  • 83.25 (n)
rat
(Rattus norvegicus)
 Mammalia Nmrk2 33
  • 83.25 (n)
oppossum
(Monodelphis domestica)
 Mammalia NMRK2 34
  • 76 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia NMRK2 34
  • 70 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LOC100858798 33
  • 79.32 (n)
NMRK2 34
  • 47 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 58 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.6863 33
zebrafish
(Danio rerio)
 Actinopterygii LOC100538223 33
  • 67.01 (n)
nmrk2 34
  • 65 (a)
 OneToMany
mibp 34
  • 64 (a)
 OneToMany
-- 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.717 33
fruit fly
(Drosophila melanogaster)
 Insecta CG12016 34
  • 22 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 33 (a)
 OneToMany
Species where no ortholog for NMRK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

ENSEMBL:
Gene Tree for NMRK2 (if available)
TreeFam:
Gene Tree for NMRK2 (if available)

Paralogs for NMRK2 Gene

Paralogs for NMRK2 Gene

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

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

Variants for NMRK2 Gene

Sequence variations from dbSNP and Humsavar for NMRK2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000064884 -- 3,932,402(+) C/A upstream_transcript_variant
rs1000587207 -- 3,935,244(+) C/T intron_variant
rs1000882643 -- 3,931,721(+) G/T upstream_transcript_variant
rs1000912792 -- 3,937,203(+) G/C intron_variant
rs1001092269 -- 3,936,312(+) G/A intron_variant

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
NMRK2

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

Disorders for NMRK2 Gene

Additional Disease Information for NMRK2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NMRK2 Gene.

No data available for MalaCards , 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 58
  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 58
  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 58
  4. Nicotinamide riboside kinase structures reveal new pathways to NAD+. (PMID: 17914902) Tempel W … Brenner C (PLoS biology 2007) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for NMRK2 Gene

  • Addgene plasmids for NMRK2

Sources for NMRK2 Gene

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