1. Gene
  2. CTU2 - cytosolic thiouridylase subunit 2 Gene

CTU2 - cytosolic thiouridylase subunit 2 Gene

Homo sapiens

Also known as MFRG; NCS2; UPF0432; C16orf84

Gene ID: 348180 | Gene type: protein coding

About CTU2

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:88,706,503-88,715,396 (from NCBI)

This gene has 10 transcripts (splice variants), 193 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 3.9), brain (RPKM 2.8) and 25 other tissues.

Summary

This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

CTU2 Products(4)

mRNA Protein Name
NM_001012759.3 NP_001012777.1 cytoplasmic tRNA 2-thiolation protein 2 isoform 1
NM_001012762.3 NP_001012780.1 cytoplasmic tRNA 2-thiolation protein 2 isoform 2
NM_001318507.2 NP_001305436.1 cytoplasmic tRNA 2-thiolation protein 2 isoform 3
NM_001318513.2 NP_001305442.1 cytoplasmic tRNA 2-thiolation protein 2 isoform 4

CTU2 Protein Structure

CTU2

CTU2: Cytoplasmic tRNA 2-thiolation protein 2 (271 - 371)

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  • 515 a.a.
Protein Preferred Names Protein Names

cytoplasmic tRNA 2-thiolation protein 2

cytosolic thiouridylase subunit 2 homolog

Related Diseases

Diseases Alias
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome

MFRG

Peroneal Neuropathy

Peroneal Neuropathies

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Phobia, Specific

Specific Phobia

Simple Phobia

Phobia, Simple

Isolated Phobia

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Dysthymic Disorder

Dysthymia

Chronic Depressive Disorder

Chronic Depression

Depressive Personality

Depressive Personality Disorder

Persistent Depressive Disorder

Persistent Depression

Social Phobia

Phobia, Social

Phobia Social

Phobic Anxiety Disorder

Intermittent Explosive Disorder

Explosive Personality Disorder

Phobic Disorder

Phobic Disorders

Phobic Anxiety Disorder

Sucrase-Isomaltase Deficiency, Congenital

Congenital Sucrase-Isomaltase Deficiency

CSID

Si Deficiency

Congenital Sucrose Intolerance

Disaccharide Intolerance

Sucrase-Isomaltase Deficiency

Disaccharide Intolerance I

Congenital Sucrose-Isomaltose Malabsorption

Sucrose-Isomaltose Malabsorption, Congenital

Sucrose Intolerance, Congenital

Congenital Sucrase-Isomaltose Malabsorption

Congenital Sucrose-Isomaltase Malabsorption

Disaccharide Intolerance, 1

Sucrose Intolerance Congenital

Sucrose-Isomaltase Malabsorption, Congenital

Disaccharidase Deficiency

Invertase Deficiency

Sucrase-Alpha-Dextrinase Deficiency

Disaccharide Intolerance Type I

Csid - [Congenital Sucrase-Isomaltase Deficiency]

Sucrose Intolerance Of Newborn

Sucrose Intolerance

Sucrase Deficiency

Disaccharide Malabsorption

Intestinal Disaccharidase Deficiency

Hymenolepiasis

Dwarf Tapeworm Infection

Hymenolepis Infectious Disease

Hymenolepsis Infection

Hyemolepis Nana Infection

Hymenolepiosis

Hymenolepis Infection

Dwarf Tapeworm

Hymenolepidosis

Hymenolepis Infestation

Agoraphobia

Fear Of Open Spaces

Phobia Of Going Out

Separation Anxiety Disorder

Separation Anxiety Disorder Of Childhood

Generalized Anxiety Disorder

Anxiety Generalized

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Rattus norvegicus CTU2 RGD RGD:1562594
Mus musculus CTU2 MGD MGI:1914215
Felis catus CTU2 VGNC VGNC:61276
Canis familiaris CTU2 VGNC VGNC:39721
Bos taurus CTU2 VGNC VGNC:27824
Macaca mulatta CTU2 VGNC VGNC:71598