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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] See more...
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
- SPG45
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 Paraplegia. Among its related pathways are Abacavir transport and metabolism and ATP/ITP metabolism. 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 Summary 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
- HGNC(8022)
- Entrez Gene(22978)
- Ensembl(ENSG00000076685)
- OMIM(600417)
- UniProtKB(P49902)
- Open Targets Platform(ENSG00000076685)
- Monarch Initiative
- Search for NT5C2 at DataMed
- Search for NT5C2 at HumanCyc
No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NT5C2 Gene
Genomics for NT5C2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NT5C2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NT5C2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NT5C2
- Top Transcription factor binding sites by QIAGEN in the NT5C2 gene promoter:
-
- E2F
- E2F-1
- Egr-3
- En-1
- MRF-2
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
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 HGNC
- 10q24.32-q24.33 by Entrez Gene
- 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
Selected DME Specific Peptides for NT5C2 Gene
- P49902:
-
- LTRSISEIKPPNLFP
- YFDLILVDARKPLFFGEGTVLRQVDT
- EVGKVFL
- TSWSDRLQNAAD
- GFKDGDLFMS
- KLPLLLSRM
- KKVTHDMDMCYGMMGSLFRSGSRQTLFASQVMRYADLYA
- RFYILNTLFNLPETYLLACLVDFFTNC
- FGFDMDYTLAVY
- TGKLKIGTYTGPLQHGIVYSGGSSD
- PHGPKPGSSHR
- LVCAHGFNF
- LYIGDHIF
- ATRNRTSVDFKD
- LTVERLVSIGYP
- TVERLVS
- RSMFQDVRDAVDWVHYKGSLKEKT
- QYPNKFIQRDDT
- KVDAYGN
- TNSDYKYT
- KIMTYLFD
Post-translational modifications for NT5C2 Gene
Other Protein References for NT5C2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005269694.1
- XP_005269702.1
- XP_005269703.1
- XP_006717784.1
- XP_006717786.1
- XP_011537839.1
- XP_016871436.1
- XP_016871455.1
- XP_016871456.1
- XP_016871463.1
- XP_024303669.1
- XP_024303670.1
- XP_024303671.1
- XP_024303672.1
- XP_024303673.1
- XP_024303675.1
- XP_024303676.1
- XP_024303677.1
- XP_024303678.1
- XP_024303679.1
- NP_001127845.1
- NP_001338098.1
- NP_001338099.1
- NP_001338100.1
- NP_001338101.1
- NP_001338102.1
- NP_001338103.1
- NP_001338104.1
- NP_001338105.1
- NP_001338106.1
- NP_001338107.1
- NP_001338108.1
- NP_001338109.1
- NP_001338110.1
- NP_001338111.1
- NP_001338112.1
- NP_001338113.1
- NP_001338114.1
- NP_001338115.1
- NP_001338116.1
- NP_001338117.1
- NP_001338118.1
- NP_001338119.1
- NP_001338120.1
- NP_001338121.1
- NP_001338122.1
- NP_001338123.1
- NP_001338124.1
- NP_001338125.1
- NP_001338126.1
- NP_036361.1
Antibody Products
- G Biosciences Immunotag™ NT5C2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for NT5C2
- Novus Biologicals Antibodies for NT5C2
-
Abcam antibodies for NT5C2
- Invitrogen Antibodies for NT5C2 (AFLGC-NT5C2)
-
Boster Bio Antibodies for NT5C2
-
Santa Cruz Biotechnology (SCBT) Antibodies for NT5C2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for NT5C2
- Origene Custom Protein Services for NT5C2
- ProSpec Recombinant Proteins for NT5C2
- antibodies-online: Show 11 available NT5C2 Proteins ranked by validation data
- Compare Top NT5C2 Proteins
-
Quality Products:
-
Abcam proteins for NT5C2
Assay Products
- antibodies-online: Show 5 available NT5C2 Elisa Kits ranked by validation data
- Compare Top NT5C2 Elisa Kits
-
Quality Products:
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
- GenScript: Design optimal peptide antigens:
-
- Cytosolic 5'-nucleotidase II (5NTC_HUMAN)
- cDNA FLJ53335, highly similar to Cytosolic purine 5'-nucleotidase (EC 3.1.3.5) (B7Z382_HUMAN)
- 5'-nucleotidase, cytosolic II (Q5JUV3_HUMAN)
- 5'-nucleotidase, cytosolic II (Q5JUV6_HUMAN)
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:
- Reaction=a ribonucleoside 5'-phosphate + H2O = a ribonucleoside + phosphate; Xref=Rhea:RHEA:12484, ChEBI:CHEBI:15377, ChEBI:CHEBI:18254, ChEBI:CHEBI:43474, ChEBI:CHEBI:58043; EC=3.1.3.5;.
- 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 | TAS,IBA | 21873635 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for NT5C2 Gene
- MGI mutant phenotypes for NT5C2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for NT5C2:
-
- no effect
- Increased viability with MLN4924 (a NAE inhibitor)
- shRNA abundance <= 50%
- Decreased viability
- Strongly decreased CFP-tsO45G cell surface transport
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance
- Decreased viability after Maraba virus infection
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased viability with SS1P at EC90
Animal Models for NT5C2 Gene
- MGI Knock Outs for NT5C2:
-
- Nt5c2 Nt5c2<tm1.1Mhrd>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NT5C2 - Select products 50% OFF >
- * NT5C2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NT5C2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NT5C2
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Clone Products
- Applied Biological Materials (abm): Clones for NT5C2 - Select products 50% OFF >
- * NT5C2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208873
- MG217314
- MG218651
- MR208873
- MR208873L3
- MR208873L4
- MR217314
- MR217314L3
- MR217314L4
- MR218651
- MR218651L3
- MR218651L4
- RC200194
- RC200194L3
- RC200194L4
- RC225961
- RC225961L3
- RC225961L4
- RG200194
- RG225961
- MR208873L3V
- MR208873L4V
- MR217314L3V
- MR217314L4V
- MR218651L3V
- MR218651L4V
- RC200194L3V
- RC200194L4V
- RC225961L3V
- RC225961L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for NT5C2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NT5C2
Cell Line Products
-
Horizon Cell Lines for NT5C2
No data available for 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 |
| nucleus | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| 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 | Metabolism of nucleotides | ||
| 2 | Metabolism |
.40
|
|
| 3 | NAD metabolism |
NAD metabolism
.53
|
|
| 4 | Abacavir transport and metabolism | ||
| 5 | Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics | ||
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
- ATP/ITP metabolism
- NAD metabolism
Interacting Proteins for NT5C2 Gene
Selected Interacting proteins:
P49902-5NTC_HUMAN
ENSP00000339479
for NT5C2 Gene via
UniProtKB
MINT
STRING
IID
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:0016311 | dephosphorylation | IEA | -- |
| GO:0017144 | drug metabolic process | TAS | -- |
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 | Enzyme, modulator | 1068 | ||
| Didanosine | Approved | Pharma | 152 | |||
| Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2451 | ||
| Adenosine | Approved, Investigational | Pharma | Agonist, Channel blocker | 619 | ||
| Cytarabine | Approved, Experimental, Investigational | Pharma | 1335 |
| 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 |
|
|||
| nicotinate beta-D-ribonucleotide |
|
|
Transcripts for NT5C2 Gene
mRNA/cDNA for NT5C2 Gene
- 31 REFSEQ mRNAs :
- 36 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000343289 3435 nts (view in UCSC)
- ENST00000369857 2625 nts (view in UCSC)
- ENST00000404739 3365 nts (view in UCSC)
- ENST00000421281 440 nts (view in UCSC)
- ENST00000452156 856 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NT5C2 - Select products 50% OFF >
- * NT5C2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NT5C2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NT5C2
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Clone Products
- Applied Biological Materials (abm): Clones for NT5C2 - Select products 50% OFF >
- * NT5C2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208873
- MG217314
- MG218651
- MR208873
- MR208873L3
- MR208873L4
- MR217314
- MR217314L3
- MR217314L4
- MR218651
- MR218651L3
- MR218651L4
- RC200194
- RC200194L3
- RC200194L4
- RC225961
- RC225961L3
- RC225961L4
- RG200194
- RG225961
- MR208873L3V
- MR208873L4V
- MR217314L3V
- MR217314L4V
- MR218651L3V
- MR218651L4V
- RC200194L3V
- RC200194L4V
- RC225961L3V
- RC225961L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for NT5C2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NT5C2
Relevant External Links for NT5C2 Gene
- GeneLoc Exon Structure for
- NT5C2
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NT5C2
SOURCE GeneReport for Unigene cluster for NT5C2 Gene:
Hs.97439Evidence on tissue expression from TISSUES for NT5C2 Gene
- Nervous system(5)
- Blood(2.8)
- Bone marrow(2.7)
- Muscle(2.6)
- Skin(2.6)
- Heart(2.6)
- Thyroid gland(2.6)
- Kidney(2.5)
- Eye(2.5)
- Intestine(2.4)
- Liver(2.3)
- Lung(2.2)
- Stomach(2.2)
- Spleen(2.1)
- Lymph node(2.1)
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 for NT5C2
-
OriGene qPCR primer pairs and template standards for NT5C2
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 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | NT5C2 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NT5C2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NT5C2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Nt5c2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | LOC100363253 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | NT5C2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | NT5C2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NT5C2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nt5c2 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9923 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nt5c2a 31 |
|
OneToMany | |
| nt5c2b 30 31 |
|
OneToMany | |||
| wufc45b10 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000380 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG32549 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y71H10B.1 30 31 |
|
OneToMany | |
| Y71H10B.1a 32 |
|
|
|||
| Y71H10B.1b 32 |
|
|
|||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G75210 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0774300 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9662 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1884 30 |
|
- Species where no ortholog for NT5C2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NT5C2 Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 375572 | Pathogenic: Spastic paraplegia 45, autosomal recessive | 103,094,752(-) | GGCGCCTGTAGTCCCA | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
| 643613 | Uncertain Significance: Spastic paraplegia 45, autosomal recessive | 103,093,159(-) | T/C | MISSENSE_VARIANT | |
| 647147 | Uncertain Significance: Spastic paraplegia 45, autosomal recessive | 103,174,915(-) | A/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 657035 | Uncertain Significance: Spastic paraplegia 45, autosomal recessive | 103,093,208(-) | G/C | MISSENSE_VARIANT | |
| 658793 | Uncertain Significance: Spastic paraplegia 45, autosomal recessive | 103,089,891(-) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3624406 | CNV | gain | 21293372 |
| esv3624407 | CNV | loss | 21293372 |
| nsv7528 | CNV | deletion | 18451855 |
| nsv948173 | CNV | duplication | 23825009 |
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
(20) MalaCards diseases for NT5C2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 45, autosomal recessive |
|
|
| paraplegia |
|
|
| paranasal sinus lymphoma |
|
|
| abducens nerve disease |
|
|
| sphenoid sinusitis |
|
|
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
- Open Targets Platform
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
- Molecular cloning of human cytosolic purine 5'-nucleotidase. (PMID: 7999131) Oka J … Inoue S (Biochemical and biophysical research communications 1994) 2 3 4
- 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
- NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. (PMID: 28327087) Elsaid MF … Abdel Aleem A (BMC medical genetics 2017) 2 3
- 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 41
Products for NT5C2 Gene
- Custom Antibody ServicesOriGene Antibodies for NT5C2
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- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for NT5C2
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- OriGene qPCR primer pairs for NT5C2
- OriGene qPCR primer pairs and template standards for NT5C2
- OriGene CRISPR knockouts for NT5C2
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- RC200194L3V
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- RC225961L3V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Sino Biological Human cDNA Clone for NT5C2
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- Browse cDNA Clones
- Browse ELISA Kits
- 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 proteins and lysates for NT5C2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for NT5C2
- Abcam proteins for NT5C2
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for NT5C2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for NT5C2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for NT5C2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for NT5C2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NT5C2
- antibodies-online: Show 14 available NT5C2 Antibodies ranked by validation data
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- antibodies-online: Show 11 available NT5C2 Proteins ranked by validation data
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- Quality Products:
- 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
- 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
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NT5C2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NT5C2
- Boster Bio Antibodies for NT5C2
- Browse Boster Bio ELISA Kits
Sources for NT5C2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB