NT5C2

Protein identityUniProt · HPA

UniProt accession

P49902

Gene

NT5C2

Ensembl

ENSG00000076685

Chromosome

10

Canonical length

561 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Quaternary structure

Homotetramer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

561 residues, UniProt reviewed canonical sequence.

>P49902|NT5C2
     1  MSTSWSDRLQ NAADMPANMD KHALKKYRRE AYHRVFVNRS LAMEKIKCFG FDMDYTLAVY
    61  KSPEYESLGF ELTVERLVSI GYPQELLSFA YDSTFPTRGL VFDTLYGNLL KVDAYGNLLV
   121  CAHGFNFIRG PETREQYPNK FIQRDDTERF YILNTLFNLP ETYLLACLVD FFTNCPRYTS
   181  CETGFKDGDL FMSYRSMFQD VRDAVDWVHY KGSLKEKTVE NLEKYVVKDG KLPLLLSRMK
   241  EVGKVFLATN SDYKYTDKIM TYLFDFPHGP KPGSSHRPWQ SYFDLILVDA RKPLFFGEGT
   301  VLRQVDTKTG KLKIGTYTGP LQHGIVYSGG SSDTICDLLG AKGKDILYIG DHIFGDILKS
   361  KKRQGWRTFL VIPELAQELH VWTDKSSLFE ELQSLDIFLA ELYKHLDSSS NERPDISSIQ
   421  RRIKKVTHDM DMCYGMMGSL FRSGSRQTLF ASQVMRYADL YAASFINLLY YPFSYLFRAA
   481  HVLMPHESTV EHTHVDINEM ESPLATRNRT SVDFKDTDYK RHQLTRSISE IKPPNLFPLA
   541  PQEITHCHDE DDDEEEEEEE E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NT5C2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

55 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NT5C2.

Disease | AllUniProt

Conditions NT5C2 is implicated in, by any mechanism.

• Spastic paraplegia 45, autosomal recessive (SPG45) MIM:613162

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 298 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary spastic paraplegia 45
• Neurodevelopmental disorder
• Thyroid cancer, nonmedullary, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.7

gnomAD pLI

0

gnomAD missense Z

2.64

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adenosine metabolic process
• allantoin metabolic process
• amide catabolic process
• dGMP catabolic process
• dGMP metabolic process
• GMP metabolic process
• IMP catabolic process
• IMP metabolic process
• negative regulation of defense response to virus by host
• protein K48-linked ubiquitination
• GMP catabolic process to guanine

Molecular functions

• 5'-nucleotidase activity
• ATP binding
• identical protein binding
• metal ion binding
• ubiquitin protein ligase activity
• nucleoside phosphotransferase activity

Cellular components

• cytoplasm
• cytosol

Protein domainsUniProt · Pfam · InterPro

• HAD-superfamily hydrolase, subfamily IG, 5'-nucleotidase
• Purine 5'-nucleotidase
• HAD superfamily
• HAD-like superfamily
• 5' nucleotidase family

KeywordsUniProt

• Allosteric enzyme
• ATP-binding
• Cytoplasm
• Hereditary spastic paraplegia
• Hydrolase
• Magnesium
• Metal-binding
• Neurodegeneration
• Nucleotide metabolism
• Nucleotide-binding
• Phosphoprotein
• Transferase

InteractionsUniProt · HPA

Protein binding partners of NT5C2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NME7