NT5C2 - 5'-nucleotidase, cytosolic II Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22978

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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
  • 100
  • 200
  • 300
  • 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 References
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