Aliases for NT5C2 Gene
Aliases for NT5C2 Gene
External Ids for NT5C2 Gene
- HGNC: 8022
- Entrez Gene: 22978
- Ensembl: ENSG00000076685
- OMIM: 600417
- UniProtKB: P49902
Previous HGNC Symbols for NT5C2 Gene
- NT5B
Previous GeneCards Identifiers for NT5C2 Gene
- GC10M103741
- GC10M104081
- GC10M104979
- GC10M104512
- GC10M104837
- GC10M098480
Summaries for NT5C2 Gene
-
This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]
-
This gene, when mutated to be over-active, has been linked to chemotherapy resistance in relapsed T-cell Acute Lymphoblastic Leukemia.
GeneCards Summary for NT5C2 Gene
NT5C2 (5'-Nucleotidase, Cytosolic II) is a Protein Coding gene. Diseases associated with NT5C2 include Spastic Paraplegia 45, Autosomal Recessive and Lymphoblastic Leukemia. Among its related pathways are NAD metabolism and Pyrimidine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include nucleotide binding and nucleoside phosphotransferase activity. An important paralog of this gene is NT5DC4.
UniProtKB/Swiss-Prot for NT5C2 Gene
-
May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5-monophosphate (IMP) and other purine nucleotides.
Additional gene information for NT5C2 Gene
- Monarch Initiative
- Search for NT5C2 at DataMed
- Search for NT5C2 at HumanCyc
No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NT5C2 Gene
Genomics for NT5C2 Gene
GeneHancer (GH) Regulatory Elements for NT5C2 Gene
Promoters and enhancers for NT5C2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around NT5C2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the NT5C2 gene promoter:
-
- En-1
- E2F-1
- E2F
- Egr-3
- MRF-2
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
Regulatory Element Products
Genomic Locations for NT5C2 Gene
Genomic Locations for NT5C2 Gene
- chr10:103,088,017-103,193,306
- (GRCh38/hg38)
- Size:
- 105,290 bases
- Orientation:
- Minus strand
- chr10:104,845,940-104,953,056
- (GRCh37/hg19)
- Size:
- 107,117 bases
- Orientation:
- Minus strand
Genomic View for NT5C2 Gene
Genes around NT5C2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q24.32-q24.33 by Entrez Gene
- 10q24.32-q24.33 by HGNC
- 10q24.33 by Ensembl
NT5C2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NT5C2 Gene
Proteins for NT5C2 Gene
-
Protein details for NT5C2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P49902-5NTC_HUMAN
- Recommended name:
- Cytosolic purine 5-nucleotidase
- Protein Accession:
- P49902
- B7Z382
- D3DR91
- Q5JUV5
Protein attributes for NT5C2 Gene
- Size:
- 561 amino acids
- Molecular mass:
- 64970 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Homotetramer.
Three dimensional structures from OCA and Proteopedia for NT5C2 Gene
Protein Expression for NT5C2 Gene
Post-translational modifications for NT5C2 Gene
Other Protein References for NT5C2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_016871463.1
- XP_016871436.1
- XP_016871456.1
- XP_006717786.1
- XP_005269702.1
- XP_024303675.1
- XP_024303672.1
- NP_001338123.1
- NP_001338103.1
- NP_001338113.1
- NP_001338098.1
- NP_001338124.1
- NP_001338104.1
- NP_001338114.1
- XP_024303669.1
- XP_024303679.1
- XP_006717784.1
- NP_001338108.1
- NP_001338118.1
- XP_024303677.1
- XP_024303671.1
- XP_005269694.1
- NP_001338125.1
- NP_001338105.1
- NP_001338115.1
- XP_024303678.1
- NP_001338126.1
- NP_001338106.1
- NP_001338116.1
- NP_001338099.1
- NP_001338120.1
- NP_001338100.1
- NP_001338110.1
- XP_016871455.1
- NP_001338109.1
- NP_001338119.1
- XP_024303676.1
- NP_001127845.1
- XP_024303673.1
- NP_001338107.1
- NP_001338117.1
- XP_024303670.1
- XP_005269703.1
- NP_001338121.1
- NP_001338101.1
- NP_001338111.1
- XP_011537839.1
- NP_001338122.1
- NP_001338102.1
- NP_001338112.1
- NP_036361.1
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for NT5C2
- Novus Biologicals Antibodies for NT5C2
- Invitrogen Antibodies for NT5C2
- GeneTex NT5C2 Antibody for NT5C2
-
Santa Cruz Biotechnology (SCBT) Antibodies for NT5C2
Protein Products
-
OriGene Purified Proteins for NT5C2
- Search Origene for MassSpec and Protein Over-expression Lysates for NT5C2
- Origene Custom Protein Services for NT5C2
- ProSpec Recombinant Proteins for NT5C2
- Search GeneTex for Proteins for NT5C2
Assay Products
- antibodies-online: Search results for 2 available NT5C2 Elisa Kits ranked by validation data
- Compare Top NT5C2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for NT5C2 Gene
Domains & Families for NT5C2 Gene
Gene Families for NT5C2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for NT5C2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for NT5C2 Gene
Graphical View of Domain Structure for InterPro Entry
P49902- Family:
-
- Belongs to the 5(3)-deoxyribonucleotidase family.
Function for NT5C2 Gene
Molecular function for NT5C2 Gene
- UniProtKB/Swiss-Prot Function:
- May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5-monophosphate (IMP) and other purine nucleotides.
- UniProtKB/Swiss-Prot CatalyticActivity:
- A 5-ribonucleotide + H(2)O = a ribonucleoside + phosphate.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Allosterically activated by various compounds, including ATP.
Enzyme Numbers (IUBMB) for NT5C2 Gene
Phenotypes From GWAS Catalog for NT5C2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0008253 | 5-nucleotidase activity | IBA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for NT5C2 Gene
- MGI mutant phenotypes for NT5C2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for NT5C2:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability after Maraba virus infection
- Increased viability with SS1P at EC90
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for NT5C2
-
CRISPR Products
-
OriGene CRISPR knockouts for NT5C2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NT5C2
- genomics-online: gRNA clones - Search results for available NT5C2 gene related products
- Applied Biological Materials CRISPR for NT5C2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NT5C2
- GenScript: Design CRISPR guide RNA sequences for NT5C2
miRNA for NT5C2 Gene
- miRTarBase miRNAs that target NT5C2
-
- hsa-mir-375 (MIRT020065)
- hsa-mir-34a-5p (MIRT025290)
- hsa-mir-21-5p (MIRT031022)
- hsa-mir-193b-3p (MIRT041471)
- hsa-mir-5089-5p (MIRT517057)
- hsa-mir-7151-3p (MIRT517058)
- hsa-mir-5095 (MIRT517059)
- hsa-mir-550a-5p (MIRT517060)
- hsa-mir-550a-3-5p (MIRT517061)
- hsa-mir-1271-3p (MIRT517062)
- hsa-mir-661 (MIRT517063)
- hsa-mir-3116 (MIRT517064)
- hsa-mir-4537 (MIRT517065)
- hsa-mir-1254 (MIRT517066)
- hsa-mir-6506-5p (MIRT517067)
- hsa-mir-619-5p (MIRT517068)
- hsa-mir-3922-3p (MIRT517069)
- hsa-mir-3176 (MIRT517070)
- hsa-mir-6504-3p (MIRT517071)
- hsa-mir-6746-3p (MIRT517072)
- hsa-mir-4438 (MIRT517073)
- hsa-mir-6869-5p (MIRT646865)
- hsa-mir-4279 (MIRT646866)
- hsa-mir-1200 (MIRT646867)
- hsa-mir-6829-3p (MIRT646868)
- hsa-mir-6791-3p (MIRT646869)
- hsa-mir-1976 (MIRT646870)
- hsa-mir-3653-5p (MIRT646871)
- hsa-mir-6747-3p (MIRT646872)
- hsa-mir-6727-3p (MIRT646873)
- hsa-mir-4722-3p (MIRT646874)
- hsa-mir-544b (MIRT646875)
- hsa-mir-4324 (MIRT646876)
- hsa-mir-660-3p (MIRT646877)
- hsa-mir-5571-5p (MIRT646878)
- hsa-mir-498 (MIRT673359)
- hsa-mir-23b-5p (MIRT677061)
- hsa-mir-23a-5p (MIRT677062)
- hsa-mir-550b-2-5p (MIRT693874)
- hsa-mir-6514-3p (MIRT693875)
- hsa-mir-6894-3p (MIRT693876)
- hsa-mir-6811-3p (MIRT693877)
- hsa-mir-214-5p (MIRT693878)
- hsa-mir-6889-3p (MIRT693879)
- hsa-mir-1914-5p (MIRT693880)
- hsa-mir-6752-3p (MIRT693881)
- hsa-mir-6729-3p (MIRT693882)
- hsa-mir-6848-3p (MIRT706299)
- hsa-mir-6843-3p (MIRT706300)
- hsa-mir-6131 (MIRT706301)
- hsa-mir-4454 (MIRT706302)
- hsa-mir-3663-5p (MIRT706303)
- hsa-mir-5699-3p (MIRT706304)
- hsa-mir-4421 (MIRT706305)
- hsa-mir-4485-5p (MIRT706306)
- hsa-mir-3934-5p (MIRT706307)
- hsa-mir-764 (MIRT706308)
- hsa-mir-125a-3p (MIRT706309)
- hsa-mir-3148 (MIRT784660)
- hsa-mir-4477b (MIRT785974)
- hsa-mir-651-3p (MIRT788326)
- hsa-mir-7856-5p (MIRT789615)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NT5C2
- Browse OriGene Inhibitory RNA Products For NT5C2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NT5C2
- genomics-online: shRNA clones - Search results for available NT5C2 gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for NT5C2 in any vector
- XM_005269646.4
- XM_005269645.4
- XM_005269637.4
- XM_005269638.4
- NM_012229.4
- XM_006717723.3
- XM_006717721.3
- XM_005269636.3
- NM_001134373.2
- NM_001134373.2
- XM_011539537.2
- NM_001351195.1
- NM_001351174.1
- NM_001351175.1
- NM_001351177.1
- NM_001351180.1
- NM_001351173.1
- NM_001351194.1
- NM_001351169.1
- NM_001351169.1
- XM_017015969.1
- XM_017015963.1
- XM_017015964.1
- XM_017015967.1
- XM_017015968.1
- NM_001351185.1
- NM_001351186.1
- NM_001351197.1
- NM_001351170.1
- NM_001351171.1
- NM_001351178.1
- NM_001351184.1
- XM_017015966.1
- XM_017015974.1
- XM_017015976.1
- XM_017015951.1
- NM_001351193.1
- NM_001351181.1
- NM_001351182.1
- NM_001351176.1
- NM_001351183.1
- NM_001351179.1
- NM_001351191.1
- NM_001351187.1
- NM_001351196.1
- NM_001351172.1
- NM_001351190.1
- NM_001351192.1
- NM_001351188.1
- NM_001351189.1
- XM_017015947.1
- XM_017015950.1
- XM_017015961.1
- Sino Biological Human cDNA Clone for NT5C2
- VectorBuilder custom plasmid, inducible vectors for NT5C2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NT5C2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NT5C2
- genomics-online: cdna clones - Search results for available NT5C2 gene related products
- orf clones - Search results for available NT5C2 gene related products
- Applied Biological Materials Clones for NT5C2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NT5C2
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NT5C2 Gene
Localization for NT5C2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NT5C2 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| mitochondrion | 2 |
| nucleus | 2 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for NT5C2 Gene
Pathways & Interactions for NT5C2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Purine metabolism | ||
| 2 | Pyrimidine metabolism (KEGG) | ||
| 3 | Metabolism |
.37
|
|
| 4 | NAD metabolism |
.42
|
|
| 5 | Abacavir transport and metabolism | ||
Pathways by source for NT5C2 Gene
4 BioSystems pathways for NT5C2 Gene
6 Reactome pathways for NT5C2 Gene
1 PharmGKB pathway for NT5C2 Gene
4 KEGG pathways for NT5C2 Gene
2 GeneGo (Thomson Reuters) pathways for NT5C2 Gene
Interacting Proteins for NT5C2 Gene
Selected Interacting proteins:
P49902-5NTC_HUMAN
ENSP00000339479
for NT5C2 Gene via
IID
UniProtKB
MINT
STRING
GPS-Prot Interaction Network for NT5C2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006195 | purine nucleotide catabolic process | TAS | -- |
| GO:0008152 | metabolic process | IEA | -- |
| GO:0009117 | nucleotide metabolic process | IEA | -- |
| GO:0016310 | phosphorylation | IEA | -- |
| GO:0016311 | dephosphorylation | IEA | -- |
No data available for SIGNOR curated interactions for NT5C2 Gene
Drugs & Compounds for NT5C2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Ribavirin | Approved | Pharma | Target, inducer | 1017 | ||
| Inosine | Approved, Investigational | Pharma | 0 | |||
| Didanosine | Approved | Pharma | 150 | |||
| Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2100 | ||
| Adenosine | Approved, Investigational | Pharma | Agonist, Channel blocker | 551 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| beta-nicotinamide D-ribonucleotide |
|
|
||||
| deoxyadenosine |
|
958-09-8 |
|
|||
| Deoxyadenosine monophosphate |
|
653-63-4 |
|
|||
| deoxyguanosine |
|
961-07-9 |
|
|||
| Nicotinamide riboside |
|
1341-23-7 |
|
Transcripts for NT5C2 Gene
mRNA/cDNA for NT5C2 Gene
- (51) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (248) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000343289 3435 bps (uc001kwq.4)
- ENST00000369857 2625 bps (uc057vrz.1)
- ENST00000404739 3365 bps (uc057vry.1)
- ENST00000421281 440 bps (uc057vsa.1)
- ENST00000452156 856 bps (uc057vsc.1)
Unigene Clusters for NT5C2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for NT5C2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NT5C2
- genomics-online: gRNA clones - Search results for available NT5C2 gene related products
- Applied Biological Materials CRISPR for NT5C2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NT5C2
- GenScript: Design CRISPR guide RNA sequences for NT5C2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NT5C2
- Browse OriGene Inhibitory RNA Products For NT5C2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NT5C2
- genomics-online: shRNA clones - Search results for available NT5C2 gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for NT5C2 in any vector
- XM_005269646.4
- XM_005269645.4
- XM_005269637.4
- XM_005269638.4
- NM_012229.4
- XM_006717723.3
- XM_006717721.3
- XM_005269636.3
- NM_001134373.2
- NM_001134373.2
- XM_011539537.2
- NM_001351195.1
- NM_001351174.1
- NM_001351175.1
- NM_001351177.1
- NM_001351180.1
- NM_001351173.1
- NM_001351194.1
- NM_001351169.1
- NM_001351169.1
- XM_017015969.1
- XM_017015963.1
- XM_017015964.1
- XM_017015967.1
- XM_017015968.1
- NM_001351185.1
- NM_001351186.1
- NM_001351197.1
- NM_001351170.1
- NM_001351171.1
- NM_001351178.1
- NM_001351184.1
- XM_017015966.1
- XM_017015974.1
- XM_017015976.1
- XM_017015951.1
- NM_001351193.1
- NM_001351181.1
- NM_001351182.1
- NM_001351176.1
- NM_001351183.1
- NM_001351179.1
- NM_001351191.1
- NM_001351187.1
- NM_001351196.1
- NM_001351172.1
- NM_001351190.1
- NM_001351192.1
- NM_001351188.1
- NM_001351189.1
- XM_017015947.1
- XM_017015950.1
- XM_017015961.1
- Sino Biological Human cDNA Clone for NT5C2
- VectorBuilder custom plasmid, inducible vectors for NT5C2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NT5C2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NT5C2
- genomics-online: cdna clones - Search results for available NT5C2 gene related products
- orf clones - Search results for available NT5C2 gene related products
- Applied Biological Materials Clones for NT5C2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for NT5C2 Gene
This gene is overexpressed in Salivary gland (15.6), Skin (7.7), and Testis (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NT5C2 Gene
NURSA nuclear receptor signaling pathways regulating expression of NT5C2 Gene:
NT5C2SOURCE GeneReport for Unigene cluster for NT5C2 Gene:
Hs.97439Evidence on tissue expression from TISSUES for NT5C2 Gene
- Nervous system(5)
- Blood(2.4)
- Bone marrow(2.1)
- Kidney(2.1)
- Thyroid gland(2.1)
- Heart(2)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NT5C2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs and template standards for NT5C2
-
OriGene qPCR primer pairs for NT5C2
- genomics-online: primer clones - Search results for available NT5C2 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NT5C2 Gene
Orthologs for NT5C2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NT5C2 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | NT5C2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NT5C2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NT5C2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Nt5c2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100363253 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | NT5C2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NT5C2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | NT5C2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | nt5c2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9923 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | nt5c2a 34 |
|
OneToMany | |
| nt5c2b 34 33 |
|
OneToMany | |||
| wufc45b10 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000380 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG32549 34 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | Y71H10B.1 34 33 |
|
OneToMany | |
| Y71H10B.1b 35 |
|
|
|||
| Y71H10B.1a 35 |
|
|
|||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G75210 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0774300 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9662 34 |
|
OneToMany | |
| Cin.1884 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1884 33 |
|
- Species where no ortholog for NT5C2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for NT5C2 Gene
- ENSEMBL:
- Gene Tree for NT5C2 (if available)
- TreeFam:
- Gene Tree for NT5C2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NT5C2: view image
Paralogs for NT5C2 Gene
(1) SIMAP similar genes for NT5C2 Gene using alignment to 8 proteins:
- 5NTC_HUMAN
- B7Z382_HUMAN
- H0YHR8_HUMAN
- Q5JUV3_HUMAN
- Q5JUV4_HUMAN
- Q5JUV6_HUMAN
- S4R3A6_HUMAN
- S4R3E7_HUMAN
Pseudogenes.org Pseudogenes for NT5C2 Gene
Variants for NT5C2 Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519866 | not-provided, Leukemia-Lymphoma, Adult T-Cell | 103,093,198(-) | C/T | coding_sequence_variant, intron_variant, missense_variant | |
| rs1057519867 | not-provided, Leukemia-Lymphoma, Adult T-Cell, Lymphoblastic leukemia, acute, with lymphomatous features | 103,093,223(-) | T/G | coding_sequence_variant, intron_variant, missense_variant | |
| rs1057519868 | not-provided, Leukemia-Lymphoma, Adult T-Cell | 103,090,988(-) | T/G | coding_sequence_variant, missense_variant | |
| rs11598702 | drug-response, gemcitabine response - Other | 103,138,228(-) | T/C/G | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs116702241 | likely-benign, Spastic paraplegia 45, autosomal recessive | 103,089,696(-) | T/A/C | coding_sequence_variant, missense_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv948173 | CNV | duplication | 23825009 |
| nsv7528 | CNV | deletion | 18451855 |
| esv3624407 | CNV | loss | 21293372 |
| esv3624406 | CNV | gain | 21293372 |
Residual Variation Intolerance Score:
19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.97;
68.14% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NT5C2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NT5C2 Gene
Disorders for NT5C2 Gene
(8) MalaCards diseases for NT5C2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 45, autosomal recessive |
|
|
| lymphoblastic leukemia |
|
|
| sphenoid sinusitis |
|
|
| orbital cellulitis |
|
|
| acute orbital inflammation |
|
|
Search NT5C2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
5NTC_HUMAN- Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest mental retardation, contractures and learning disability. {ECO:0000269 PubMed:24482476, ECO:0000269 PubMed:28884889}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NT5C2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for NT5C2 Gene
Publications for NT5C2 Gene
- Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 2 3 4 58
- Molecular cloning of human cytosolic purine 5'-nucleotidase. (PMID: 7999131) Oka J … Inoue S (Biochemical and biophysical research communications 1994) 2 3 4 58
- Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. (PMID: 28884889) Straussberg R … McGrath JA (American journal of medical genetics. Part A 2017) 3 4 58
- Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. (PMID: 21572416) Kato N … He J (Nature genetics 2011) 3 44 58
- Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain LV … van Duijn CM (Nature genetics 2011) 3 44 58
Products for NT5C2 Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
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- Custom Antibody ServicesOriGene Antibodies for NT5C2
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- XM_005269646.4
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- XM_006717723.3
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- XM_017015967.1
- XM_017015968.1
- NM_001351185.1
- NM_001351186.1
- NM_001351197.1
- NM_001351170.1
- NM_001351171.1
- NM_001351178.1
- NM_001351184.1
- XM_017015966.1
- XM_017015974.1
- XM_017015976.1
- XM_017015951.1
- NM_001351193.1
- NM_001351181.1
- NM_001351182.1
- NM_001351176.1
- NM_001351183.1
- NM_001351179.1
- NM_001351191.1
- NM_001351187.1
- NM_001351196.1
- NM_001351172.1
- NM_001351190.1
- NM_001351192.1
- NM_001351188.1
- NM_001351189.1
- XM_017015947.1
- XM_017015950.1
- XM_017015961.1
- GenScript Custom Purified and Recombinant Proteins Services for NT5C2
- GenScript Custom Assay Services for NT5C2
- GenScript Custom overexpressing Cell Line Services for NT5C2
- GenScript: Design CRISPR guide RNA sequences for NT5C2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for NT5C2
- Sino Biological Human cDNA Clone for NT5C2
- Browse Sino Biological Recombinant Proteins
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- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for NT5C2
- Novus Biologicals lysates and proteins for NT5C2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- ProSpec Recombinant Proteins for NT5C2
- VectorBuilder custom plasmid, inducible vectors for NT5C2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NT5C2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 56 available NT5C2 Antibodies ranked by validation data
- Compare Top NT5C2 Antibodies
- Quality Products:
- antibodies-online: Search results for 2 available NT5C2 Elisa Kits ranked by validation data
- Compare Top NT5C2 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 10 available NT5C2 Proteins ranked by validation data
- Compare Top NT5C2 Proteins
- Quality Products:
- GeneTex NT5C2 Antibody for NT5C2
- Search GeneTex for Proteins for NT5C2
- Santa Cruz Biotechnology (SCBT) Antibodies for NT5C2
- Search Santa Cruz Biotechnology (SCBT) for NT5C2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NT5C2
- Horizon Cell Lines for NT5C2
- genomics-online: cdna clones - Search results for available NT5C2 gene related products
- orf clones - Search results for available NT5C2 gene related products
- genomics-online: gRNA clones - Search results for available NT5C2 gene related products
- genomics-online: primer clones - Search results for available NT5C2 gene related products
- genomics-online: shRNA clones - Search results for available NT5C2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NT5C2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NT5C2
- GeneCopoeia miRNA 3'UTR Target clone products for NT5C2
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Sources for NT5C2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt