NT5C2 (5'-nucleotidase, cytosolic II)

Gene

• Entrez ID: 22978
• Gene name: 5'-nucleotidase, cytosolic II
• Gene symbol: NT5C2
• Synonyms: GMP, NT5B, PNT5, SPG45, SPG65, cN-II
• Chromosome: 10
• Chromosome location: 10q24.32-q24.33
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11598702	T>C,G	Drug-response	Intron variant, genic upstream transcript variant, upstream transcript variant
rs587777173	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs587777174	T>A	Pathogenic	Coding sequence variant, intron variant, stop gained, 5 prime UTR variant
rs763305896	GT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs886037656	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886037657	C>A	Pathogenic	Intron variant, splice acceptor variant
rs886037658	C>T	Pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1430860231	C>G	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020065	hsa-miR-375	Microarray	20215506
MIRT025290	hsa-miR-34a-5p	Proteomics	21566225
MIRT031022	hsa-miR-21-5p	Microarray	18591254
MIRT041471	hsa-miR-193b-3p	CLASH	23622248
MIRT517057	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT517057	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT517058	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT517059	hsa-miR-5095	PAR-CLIP	23446348
MIRT517060	hsa-miR-550a-5p	PAR-CLIP	23446348
MIRT517060	hsa-miR-550a-5p	HITS-CLIP	23313552
MIRT517061	hsa-miR-550a-3-5p	PAR-CLIP	23446348
MIRT517061	hsa-miR-550a-3-5p	HITS-CLIP	23313552
MIRT517062	hsa-miR-1271-3p	PAR-CLIP	23446348
MIRT517062	hsa-miR-1271-3p	HITS-CLIP	23313552
MIRT517063	hsa-miR-661	PAR-CLIP	23446348
MIRT517064	hsa-miR-3116	PAR-CLIP	23446348
MIRT517065	hsa-miR-4537	PAR-CLIP	23446348
MIRT517066	hsa-miR-1254	PAR-CLIP	23446348
MIRT517067	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT517068	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT517068	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT517069	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT517070	hsa-miR-3176	PAR-CLIP	23446348
MIRT517071	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT517072	hsa-miR-6746-3p	PAR-CLIP	23446348
MIRT517073	hsa-miR-4438	PAR-CLIP	23446348
MIRT646865	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT646866	hsa-miR-4279	HITS-CLIP	23824327
MIRT646867	hsa-miR-1200	HITS-CLIP	23824327
MIRT646868	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT646869	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT646870	hsa-miR-1976	HITS-CLIP	23824327
MIRT646871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646872	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646873	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646874	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646875	hsa-miR-544b	HITS-CLIP	23824327
MIRT646876	hsa-miR-4324	HITS-CLIP	23824327
MIRT646877	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT646878	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT673359	hsa-miR-498	HITS-CLIP	23824327
MIRT677061	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT677062	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT693874	hsa-miR-550b-2-5p	HITS-CLIP	23313552
MIRT693875	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT693876	hsa-miR-6894-3p	HITS-CLIP	23313552
MIRT693877	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT693878	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT693878	hsa-miR-214-5p	HITS-CLIP	22927820
MIRT693879	hsa-miR-6889-3p	HITS-CLIP	23313552
MIRT693880	hsa-miR-1914-5p	HITS-CLIP	23313552
MIRT693881	hsa-miR-6752-3p	HITS-CLIP	23313552
MIRT693882	hsa-miR-6729-3p	HITS-CLIP	23313552
MIRT706299	hsa-miR-6848-3p	HITS-CLIP	22927820
MIRT706300	hsa-miR-6843-3p	HITS-CLIP	22927820
MIRT706301	hsa-miR-6131	HITS-CLIP	22927820
MIRT706302	hsa-miR-4454	HITS-CLIP	22927820
MIRT706303	hsa-miR-3663-5p	HITS-CLIP	22927820
MIRT706304	hsa-miR-5699-3p	HITS-CLIP	22927820
MIRT706305	hsa-miR-4421	HITS-CLIP	22927820
MIRT706306	hsa-miR-4485-5p	HITS-CLIP	22927820
MIRT706307	hsa-miR-3934-5p	HITS-CLIP	22927820
MIRT706308	hsa-miR-764	HITS-CLIP	22927820
MIRT706309	hsa-miR-125a-3p	HITS-CLIP	22927820
MIRT784660	hsa-miR-3148	HITS-CLIP	27418678
MIRT785974	hsa-miR-4477b	HITS-CLIP	27418678
MIRT788326	hsa-miR-651-3p	HITS-CLIP	27418678
MIRT789615	hsa-miR-7856-5p	HITS-CLIP	27418678

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0006195	Process	Purine nucleotide catabolic process	TAS
GO:0008253	Function	5'-nucleotidase activity	IBA	21873635
GO:0016311	Process	Dephosphorylation	IEA
GO:0017144	Process	Drug metabolic process	TAS
GO:0046040	Process	IMP metabolic process	IBA	21873635
GO:0046085	Process	Adenosine metabolic process	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 600417
• HGNC: 8022
• e!Ensembl: ENSG00000076685

Protein

• UniProt ID: P49902
• Protein name: Cytosolic purine 5'-nucleotidase (EC 3.1.3.5) (Cytosolic 5'-nucleotidase II)
• Protein 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.
• PDB: 2J2C, 2JC9, 2JCM, 2XCV, 2XCW, 2XCX, 2XJB, 2XJC, 2XJD, 2XJE, 2XJF, 4H4B, 5CQZ, 5CR7, 5K7Y, 5L4Z, 5L50, 5OPK, 5OPL, 5OPM, 5OPN, 5OPO, 5OPP, 6DD3, 6DDB, 6DDC, 6DDH, 6DDK, 6DDL, 6DDO, 6DDQ, 6DDX, 6DDY, 6DDZ, 6DE0, 6DE1, 6DE2, 6DE3, 6FIR, 6FIS, 6FIU, 6FIW, 6FXH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05761	5_nucleotid	35 → 489		Family

• Sequence:

  MSTSWSDRLQNAADMPANMDKHALKKYRREAYHRVFVNRSLAMEKIKCFGFDMDYTLAVY
  KSPEYESLGFELTVERLVSIGYPQELLSFAYDSTFPTRGLVFDTLYGNLLKVDAYGNLLV
  CAHGFNFIRGPETREQYPNKFIQRDDTERFYILNTLFNLPETYLLACLVDFFTNCPRYTS
  CETGFKDGDLFMSYRSMFQDVRDAVDWVHYKGSLKEKTVENLEKYVVKDGKLPLLLSRMK
  EVGKVFLATNSDYKYTDKIMTYLFDFPHGPKPGSSHRPWQSYFDLILVDARKPLFFGEGT
  VLRQVDTKTGKLKIGTYTGPLQHGIVYSGGSSDTICDLLGAKGKDILYIGDHIFGDILKS
  KKRQGWRTFLVIPELAQELHVWTDKSSLFEELQSLDIFLAELYKHLDSSSNERPDISSIQ
  RRIKKVTHDMDMCYGMMGSLFRSGSRQTLFASQVMRYADLYAASFINLLYYPFSYLFRAA
  HVLMPHESTVEHTHVDINEMESPLATRNRTSVDFKDTDYKRHQLTRSISEIKPPNLFPLA
  PQEITHCHDEDDDEEEEEEEE

• Sequence length: 561