1. Gene
  2. NT5C2 - 5'-nucleotidase, cytosolic II Gene

NT5C2 - 5'-nucleotidase, cytosolic II Gene

Homo sapiens

Also known as GMP; NT5B; PNT5; SPG45; SPG65; cN-II

Gene ID: 22978 | Gene type: protein coding

About NT5C2

Cytogenetic location: 10q24.32-q24.33 Genomic coordinates (GRCh38): 10:103,088,017-103,193,272 (from NCBI)

This gene has 27 transcripts (splice variants), 88 orthologues, 4 paralogues and is associated with 67 phenotypes. Ubiquitous expression in thyroid (RPKM 20.3), esophagus (RPKM 12.5) and 25 other tissues.

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]

NT5C2 Products(31)

mRNA Protein Name
NM_001134373.3 NP_001127845.1 cytosolic purine 5'-nucleotidase isoform 1
NM_001351169.2 NP_001338098.1 cytosolic purine 5'-nucleotidase isoform 1
NM_001351170.2 NP_001338099.1 cytosolic purine 5'-nucleotidase isoform 2
NM_001351171.2 NP_001338100.1 cytosolic purine 5'-nucleotidase isoform 2
NM_001351172.2 NP_001338101.1 cytosolic purine 5'-nucleotidase isoform 2
NM_001351173.2 NP_001338102.1 cytosolic purine 5'-nucleotidase isoform 2
NM_001351174.1 NP_001338103.1 cytosolic purine 5'-nucleotidase isoform 3
NM_001351175.2 NP_001338104.1 cytosolic purine 5'-nucleotidase isoform 4
NM_001351176.2 NP_001338105.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351177.2 NP_001338106.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351178.2 NP_001338107.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351179.2 NP_001338108.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351180.2 NP_001338109.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351181.2 NP_001338110.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351182.2 NP_001338111.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351183.2 NP_001338112.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351184.2 NP_001338113.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351185.2 NP_001338114.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351186.2 NP_001338115.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351187.2 NP_001338116.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351188.2 NP_001338117.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351189.2 NP_001338118.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351190.2 NP_001338119.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351191.1 NP_001338120.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351192.1 NP_001338121.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351193.1 NP_001338122.1 cytosolic purine 5'-nucleotidase isoform 5
NM_001351194.2 NP_001338123.1 cytosolic purine 5'-nucleotidase isoform 6
NM_001351195.2 NP_001338124.1 cytosolic purine 5'-nucleotidase isoform 6
NM_001351196.2 NP_001338125.1 cytosolic purine 5'-nucleotidase isoform 6
NM_001351197.2 NP_001338126.1 cytosolic purine 5'-nucleotidase isoform 5
NM_012229.5 NP_036361.1 cytosolic purine 5'-nucleotidase isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables 5'-nucleotidase activity IDA
IDA: Inferred from direct assay
1659319 GOA
enables ATP binding IDA
IDA: Inferred from direct assay
21396942 GOA
enables IMP 5'-nucleotidase activity IDA
IDA: Inferred from direct assay
1659319 GOA
enables identical protein binding IDA
IDA: Inferred from direct assay
10092873 GOA
enables nucleoside phosphotransferase activity IDA
IDA: Inferred from direct assay
1659319 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
36159777 GOA
Biological Process GO Annotation Evidence Reference Source
involved in GMP metabolic process IDA
IDA: Inferred from direct assay
1659319 GOA
involved in IMP catabolic process IDA
IDA: Inferred from direct assay
21873433 GOA
involved in IMP metabolic process IDA
IDA: Inferred from direct assay
1659319 GOA
involved in allantoin metabolic process IDA
IDA: Inferred from direct assay
21873433 GOA
involved in dGMP metabolic process IDA
IDA: Inferred from direct assay
1659319 GOA
involved in negative regulation of defense response to virus by host IDA
IDA: Inferred from direct assay
36159777 GOA
involved in protein K48-linked ubiquitination IDA
IDA: Inferred from direct assay
36159777 GOA
Cellular Component GO Annotation Evidence Reference Source
is active in cytoplasm IDA
IDA: Inferred from direct assay
9371705 GOA
is active in cytosol IDA
IDA: Inferred from direct assay
21873433 GOA
located in cytosol IDA
IDA: Inferred from direct assay
9371705 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NT5C2 Protein Structure

5_nucleotid

5_nucleotid: 5' nucleotidase family (35 - 492)

  • 0
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  • 400
  • 500
  • 561 a.a.
Protein Preferred Names Protein Names

cytosolic purine 5'-nucleotidase

5'-nucleotidase (purine), cytosolic type B

NT5C2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NT5C2 P49902 ATP5PO Homo sapiens P48047 25416956
Intra
NT5C2 P49902 ATP5PO Homo sapiens P48047 25416956
Intra
NT5C2 P49902 SDCBP Homo sapiens O00560 25416956
Intra
NT5C2 P49902 SDCBP Homo sapiens O00560 25416956
Intra
NT5C2 P49902 FXR2 Homo sapiens P51116 19060904
Intra
NT5C2 P49902 FXR2 Homo sapiens P51116 19060904
Intra
NT5C2 P49902 NUDT18 Homo sapiens Q6ZVK8 19060904
Intra
NT5C2 P49902 NUDT18 Homo sapiens Q6ZVK8 19060904
Intra
NT5C2 P49902 NUDT18 Homo sapiens Q6ZVK8 16189514
Intra
NT5C2 P49902 NME7 Homo sapiens Q9Y5B8 25416956
Intra
NT5C2 P49902 NME7 Homo sapiens Q9Y5B8 16189514
Intra
NT5C2 P49902 NME7 Homo sapiens Q9Y5B8 25416956
Intra
NT5C2 P49902 GLYCTK Homo sapiens Q8IVS8 32296183
Intra
NT5C2 P49902 MOB3B Homo sapiens Q86TA1 19060904
Intra
NT5C2 P49902 MOB3B Homo sapiens Q86TA1 16189514
Intra
NT5C2 P49902 MOB3B Homo sapiens Q86TA1 19060904
Intra
NT5C2 P49902 MOB3C Homo sapiens Q70IA8 25416956
Intra
NT5C2 P49902 MOB3C Homo sapiens Q70IA8 25416956
Intra
NT5C2 P49902 MOB3C Homo sapiens Q70IA8 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spastic Paraplegia 45, Autosomal Recessive

SPG45

Hereditary Spastic Paraplegia 45

Autosomal Recessive Spastic Paraplegia Type 45

Autosomal Recessive Spastic Paraplegia Type 65

Spg65

Autosomal Recessive Spastic Paraplegia 45

Paraplegia, Spastic, Type 45, Autosomal Recessive

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Spastic Ataxia 3
Dyskeratosis Congenita, Autosomal Dominant 1

DKCA1

Dyskeratosis Congenita, Scoggins Type

Autosomal Dominant Dyskeratosis Congenita 1

Dyskeratosis Congenita, Autosomal Dominant, Type 1

Dyskeratosis Congenita, Autosomal Dominant

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Spastic Paraplegia 64, Autosomal Recessive

SPG64

Hereditary Spastic Paraplegia 64

Autosomal Recessive Spastic Paraplegia Type 64

Autosomal Recessive Spastic Paraplegia 64

Paraplegia, Spastic, Type 64, Autosomal Recessive

Crigler-Najjar Syndrome, Type I

Crigler-Najjar Syndrome

Crigler-Najjar Syndrome Type 1

Bilirubin Udp Glucuronyl Transferase Deficiency

Crigler Najjar Syndrome

Crigler Najjar Syndrome, Type 1

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

Bilirubin-Ugt Deficiency

Hyperbilirubinemia, Crigler-Najjar Type I

Hblrcn1

Familial Nonhemolytic Unconjugated Hyperbilirubinemia

Hereditary Unconjugated Hyperbilirubinemia

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

Bilirubin-Ugt Deficiency Type 1

Crigler-Najjar Syndrome 1

CN1

Cn-I

Crigler-Najjar Syndrome Type I

Hereditary Unconjugated Hyperbilirubinaemia

Ugt Deficiency

Bilirubin Glucuronosyltransferase Deficiency

Crigler-Najjar Disease Or Syndrome

Deficiency Of Glucuronosyltransferase

Glucuronyl Transferase Deficiency

Glucuronyltransferase Deficiency

Udp Glucuronyl Transferase Deficiency

Cns - [Crigler-Najjar Syndrome]

Congenital Familial Nonhemolytic Jaundice

Episodic Ataxia, Type 8

Episodic Ataxia Type 8

EA8

Episodic Ataxia With Slurred Speech

Large Congenital Melanocytic Nevus

Giant Pigmented Hairy Nevus

Giant Congenital Melanocytic Nevus

Gmn

Congenital Pigmented Nevus

Lcmn

Gphn

Giant Congenital Nevus

Bathing Trunk Nevus

Congenital Giant Pigmented Nevus

Congenital Hairy Nevus

Giant Hairy Nevus

Giant Pigmented Nevus

Congenital Giant Pigmented Nevus Of Skin

Congenital Melanocytic Nevus Syndrome

Giant Congenital Melanocytic Nevi

Giant Congenital Pigmented Nevus

Melanocytic Nevus Syndrome, Congenital

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Gilbert Syndrome

Gilbert Disease

Gilbert'S Disease

Gilbert'S Syndrome

Cholemia, Familial

Familial Nonhemolytic Jaundice

Meulengracht Syndrome

Gilbert Syndrome, Susceptibility To

Hyperbilirubinemia, Gilbert Type

Hblrg

Hyperbilirubinemia, Arias Type

Hyperbilirubinemia I

Constitutional Hyperbilirubinemia

Gilbert-Meulengracht Syndrome

Hereditary Nonhemolytic Jaundice

Hyperbilirubinemia Arias Type

Hyperbilirubinemia Type 1

Constitutional Liver Dysfunction

Gilbert-Lereboullet Syndrome

Hyperbilirubinemia 1

Unconjugated Benign Bilirubinemia

GILBS

Gilberts Syndrome

Familial Nonhaemolytic Jaundice

Constitutional Hyperbilirubinaemia

Hereditary Nonhaemolytic Bilirubinaemia

Familial Nonhaemolytic Bilirubinaemia

Idiopathic Hyperbilirubinaemia

Icterus Intermittens Juvenilis

Chronic Intermittent Juvenile Jaundice

Low-Grade Chronic Hyperbilirubinaemia Syndrome

Benign Unconjugated Bilirubinaemia Syndrome

Hereditary Nonhaemolytic Jaundice

Idiopathic Unconjugated Hyperbilirubinaemia

Gilbert--Lereboullet Syndrome

Constitutional Hepatic Dysfunction

Meulengracht Icterus

Cholaemia Familiaris Simplex

Familial Cholaemia

Congenital Familial Cholaemia

Physiologic Cholaemia

Hyperbilirubinaemia Type 1

Gilbert Cholaemia

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus NT5C2 VGNC VGNC:32291
Macaca mulatta NT5C2 VGNC VGNC:82199
Mus musculus NT5C2 MGD MGI:2178563
Rattus norvegicus NT5C2 RGD RGD:2323387
Felis catus NT5C2 VGNC VGNC:97538
Canis familiaris NT5C2 VGNC VGNC:43996
Others NT5C2 NCBI