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

  • 5'-Nucleotidase, Cytosolic II 2 3 5
  • PNT5 2 3 4
  • Spastic Paraplegia 45 (Autosomal Recessive) 2 3
  • 5'-Nucleotidase (Purine), Cytosolic Type B 2 3
  • Cytosolic Purine 5'-Nucleotidase 3 4
  • EC 3.1.3.5 4 50
  • SPG65 2 3
  • CN-II 2 3
  • NT5B 3 4
  • GMP 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Cytosolic 5'-Nucleotidase II 4
  • Purine 5' Nucleotidase 2
  • IMP-Specific 5'-NT 3
  • EC 3.1.3 50
  • SPG45 3
  • NT5C2 5
  • NT5CP 4

External Ids for NT5C2 Gene

Previous HGNC Symbols for NT5C2 Gene

  • NT5B
  • SPG45

Previous GeneCards Identifiers for NT5C2 Gene

  • GC10M103741
  • GC10M104081
  • GC10M104979
  • GC10M104512
  • GC10M104837
  • GC10M098480

Summaries for NT5C2 Gene

Entrez Gene Summary 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]

CIViC Summary for NT5C2 Gene

  • 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.

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

Latest Assembly
chr10:103,087,185-103,277,605
(GRCh38/hg38)
Size:
190,421 bases
Orientation:
Minus strand

Previous Assembly
chr10:104,847,774-104,953,029
(GRCh37/hg19 by Entrez Gene)
Size:
105,256 bases
Orientation:
Minus strand

chr10:104,845,940-104,953,056
(GRCh37/hg19 by Ensembl)
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:
NT5C2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NT5C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for NT5C2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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

  • Ubiquitination at Lys244 and Lys254
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for NT5C2
  • Boster Bio Antibodies for NT5C2
  • Santa Cruz Biotechnology (SCBT) Antibodies for NT5C2

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

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

UniProtKB/Swiss-Prot:

5NTC_HUMAN :
  • Belongs to the 5'(3')-deoxyribonucleotidase family.
Family:
  • Belongs to the 5'(3')-deoxyribonucleotidase family.
genes like me logo Genes that share domains with NT5C2: view

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

Gene Ontology (GO) - Molecular Function 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 IDA,IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with NT5C2: view
genes like me logo Genes that share phenotypes with NT5C2: view

Human Phenotype Ontology for NT5C2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NT5C2 Gene

MGI Knock Outs for NT5C2:

miRNA for NT5C2 Gene

miRTarBase miRNAs that target NT5C2

Inhibitory RNAs for research

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

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 NT5C2 gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for NT5C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NT5C2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NT5C2 Gene

Pathways & Interactions for NT5C2 Gene

genes like me logo Genes that share pathways with NT5C2: view

Pathways by source for NT5C2 Gene

Gene Ontology (GO) - Biological Process for NT5C2 Gene

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 --
genes like me logo Genes that share ontologies with NT5C2: view

No data available for SIGNOR curated interactions for NT5C2 Gene

Drugs & Compounds for NT5C2 Gene

(23) Drugs for NT5C2 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ribavirin Approved Pharma Enzyme, modulator 1083
Didanosine Approved Pharma 151
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2590
Adenosine Approved, Investigational Pharma 664
Water Approved Pharma 0

(8) Additional Compounds for NT5C2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
deoxyadenosine
  • (2R,3S,5R)-5-(6-Amino-9H-purin-9-yl)-2-(hydroxymethyl)tetrahydrofuran-3-ol
  • 5-(6-AMINO-purin-9-yl)-2-hydroxymethyl-tetrahydro-furan-3-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)adenine
  • 9-(2-Deoxy-beta-D-ribofuranosyl)-9H-purin-6-amine
  • Adenine deoxyribonucleoside
958-09-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenosine monophosphate
  • 2'-Deoxy-AMP
  • 2'-Deoxyadenosine 5'-(dihydrogen phosphate)
  • 2'-Deoxyadenosine 5'-phosphate
653-63-4
deoxyguanosine
  • 2-Amino-9-(2-deoxy-9-beta-D-ribofuranosyl)-9H-purin-6-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)-guanine
  • dG
  • Guanine deoxy nucleoside
  • 2'-Deoxyguanosine
961-07-9
Nicotinamide ribotide
  • b-Nicotinamide D-ribonucleotide
  • β-Nicotinamide D-ribonucleotide
  • Mononucleotide, nicotinamide
  • Nicotinamide mononucleotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-D-ribofuranosyl)pyridinium
75414-16-3
Nicotinic acid mononucleotide
  • beta-Nicotinate D-ribonucleotide
  • Nicotinate ribonucleotide
  • Nicotinic acid ribonucleotide
  • b-Nicotinate D-ribonucleotide
  • b-Nicotinic acid D-ribonucleotide
321-02-8
genes like me logo Genes that share compounds with NT5C2: view

Transcripts for NT5C2 Gene

mRNA/cDNA for NT5C2 Gene

31 REFSEQ mRNAs :
36 NCBI additional mRNA sequence :
27 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 NT5C2

Alternative Splicing Database (ASD) splice patterns (SP) for NT5C2 Gene

No ASD Table

Relevant External Links for NT5C2 Gene

GeneLoc Exon Structure for
NT5C2

Expression for NT5C2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NT5C2 Gene

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners for NT5C2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NT5C2

SOURCE GeneReport for Unigene cluster for NT5C2 Gene:

Hs.97439

Evidence on tissue expression from TISSUES for NT5C2 Gene

  • Nervous system(5)
  • Blood(2.6)
  • Bone marrow(2.6)
  • Thyroid gland(2.5)
  • Heart(2.5)
  • Muscle(2.4)
  • Kidney(2.4)
  • Skin(2.3)
  • Intestine(2.2)
  • Liver(2.1)
  • Lung(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
genes like me logo Genes that share expression patterns with NT5C2: view

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.

Orthologs for NT5C2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NT5C2 29 30
  • 99.7 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NT5C2 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia NT5C2 29 30
  • 94.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NT5C2 29 30
  • 94.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nt5c2 29 16 30
  • 91.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100363253 29
  • 91.19 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NT5C2 30
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NT5C2 29 30
  • 83.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NT5C2 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nt5c2 29
  • 79.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9923 29
Zebrafish
(Danio rerio)
Actinopterygii nt5c2a 30
  • 90 (a)
OneToMany
nt5c2b 29 30
  • 77.45 (n)
OneToMany
wufc45b10 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000380 29
  • 59.45 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG32549 29 30
  • 58.53 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y71H10B.1 29 30
  • 55.22 (n)
OneToMany
Y71H10B.1a 31
  • 51 (a)
Y71H10B.1b 31
  • 51 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G75210 29
  • 47.81 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0774300 29
  • 46.64 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9662 30
  • 59 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1884 29
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
Alliance of Genome Resources:
Additional Orthologs for NT5C2

Paralogs for NT5C2 Gene

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

genes like me logo Genes that share paralogs with NT5C2: view

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
1010868 Uncertain Significance: Spastic paraplegia 45, autosomal recessive 103,106,650(-) C/T
NM_001351169.2(NT5C2):c.232G>A (p.Val78Ile)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1012102 Uncertain Significance: Spastic paraplegia 45, autosomal recessive 103,106,713(-) A/C
NM_001351169.2(NT5C2):c.176-7T>G
INTRON
1025816 Uncertain Significance: Spastic paraplegia 45, autosomal recessive 103,089,678(-) TTCC/T
NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del)
INFRAME_DELETION,THREE_PRIME_UTR
1029182 Likely Pathogenic: Spastic paraplegia 45, autosomal recessive 103,101,044(-) C/A
NM_001351169.2(NT5C2):c.539+1G>T
SPLICE_DONOR
1032555 Pathogenic: Spastic paraplegia 45, autosomal recessive 103,089,678(-) T/TTCC
NM_001351169.2(NT5C2):c.1665GGA[6] (p.Glu561dup)
INFRAME_INSERTION,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NT5C2 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 NT5C2 Gene

Variant ID Type Subtype PubMed ID
esv3624406 CNV gain 21293372
esv3624407 CNV loss 21293372
nsv7528 CNV deletion 18451855
nsv948173 CNV duplication 23825009

Variation tolerance for NT5C2 Gene

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

Human Gene Mutation Database (HGMD)
NT5C2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NT5C2
Leiden Open Variation Database (LOVD)
NT5C2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NT5C2 Gene

Disorders for NT5C2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for NT5C2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
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 variants affecting the gene represented in this entry.

Additional Disease Information for NT5C2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NT5C2: view

No data available for Genatlas for NT5C2 Gene

Publications for NT5C2 Gene

  1. 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 72
  2. Molecular cloning of human cytosolic purine 5'-nucleotidase. (PMID: 7999131) Oka J … Inoue S (Biochemical and biophysical research communications 1994) 2 3 4
  3. 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
  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
  5. 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 40

Products for NT5C2 Gene

Sources for NT5C2 Gene