1. Gene
  2. TUSC3 - tumor suppressor candidate 3 Gene

TUSC3 - tumor suppressor candidate 3 Gene

Homo sapiens

Also known as M33; N33; MRT7; MRT22; MagT2; OST3A; D8S1992; SLC58A2

Gene ID: 7991 | Gene type: protein coding

About TUSC3

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:15,540,087-15,766,649 (from NCBI)

This gene has 13 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in placenta (RPKM 11.3), adrenal (RPKM 9.7) and 23 other tissues.

Summary

This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic Cancer, ovarian Cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]

TUSC3 Products(27)

mRNA Protein Name
NM_001356429.2 NP_001343358.1 tumor suppressor candidate 3 isoform 1 precursor
NM_001413583.1 NP_001400512.1 tumor suppressor candidate 3 isoform 1 precursor
NM_001413669.1 NP_001400598.1 tumor suppressor candidate 3 isoform 4
NM_001413670.1 NP_001400599.1 tumor suppressor candidate 3 isoform 5
NM_001413671.1 NP_001400600.1 tumor suppressor candidate 3 isoform 3
NM_001413672.1 NP_001400601.1 tumor suppressor candidate 3 isoform 4
NM_001413673.1 NP_001400602.1 tumor suppressor candidate 3 isoform 6 precursor
NM_001413674.1 NP_001400603.1 tumor suppressor candidate 3 isoform 7 precursor
NM_001413675.1 NP_001400604.1 tumor suppressor candidate 3 isoform 8 precursor
NM_001413676.1 NP_001400605.1 tumor suppressor candidate 3 isoform 9 precursor
NM_001413677.1 NP_001400606.1 tumor suppressor candidate 3 isoform 10
NM_001413678.1 NP_001400607.1 tumor suppressor candidate 3 isoform 11
NM_001413679.1 NP_001400608.1 tumor suppressor candidate 3 isoform 12 precursor
NM_001413680.1 NP_001400609.1 tumor suppressor candidate 3 isoform 13 precursor
NM_001413681.1 NP_001400610.1 tumor suppressor candidate 3 isoform 14 precursor
NM_001413682.1 NP_001400611.1 tumor suppressor candidate 3 isoform 15 precursor
NM_001413683.1 NP_001400612.1 tumor suppressor candidate 3 isoform 16 precursor
NM_001413684.1 NP_001400613.1 tumor suppressor candidate 3 isoform 17 precursor
NM_001413685.1 NP_001400614.1 tumor suppressor candidate 3 isoform 18 precursor
NM_001413686.1 NP_001400615.1 tumor suppressor candidate 3 isoform 19 precursor
NM_001413687.1 NP_001400616.1 tumor suppressor candidate 3 isoform 20 precursor
NM_001413688.1 NP_001400617.1 tumor suppressor candidate 3 isoform 21 precursor
NM_001413689.1 NP_001400618.1 tumor suppressor candidate 3 isoform 1 precursor
NM_001413690.1 NP_001400619.1 tumor suppressor candidate 3 isoform 22 precursor
NM_001413691.1 NP_001400620.1 tumor suppressor candidate 3 isoform 23 precursor
NM_006765.4 NP_006756.2 tumor suppressor candidate 3 isoform 1 precursor
NM_178234.2 NP_839952.1 tumor suppressor candidate 3 isoform 2 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables magnesium ion transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
19717468 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cognition IMP
IMP: Inferred from mutant phenotype
18455129 GOA
NOT involved in magnesium ion transport IGI
IGI: Inferred from genetic interaction
19717468 GOA
involved in magnesium ion transport IGI
IGI: Inferred from genetic interaction
19717468 GOA
involved in magnesium ion transport IMP
IMP: Inferred from mutant phenotype
19717468 GOA
involved in protein N-linked glycosylation via asparagine IMP
IMP: Inferred from mutant phenotype
26864433 GOA
Cellular Component GO Annotation Evidence Reference Source
part of oligosaccharyltransferase complex IDA
IDA: Inferred from direct assay
15835887 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

TUSC3 Protein Structure

Thioredoxin

Thioredoxin: Thioredoxin (68 - 161)

OST3_OST6

OST3_OST6: OST3 / OST6 family, transporter family (177 - 328)

  • 0
  • 100
  • 200
  • 300
  • 348 a.a.
Protein Preferred Names Protein Names

tumor suppressor candidate 3

dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Recessive 7

MRT7

Mrt22

Mental Retardation, Autosomal Recessive 22

Intellectual Developmental Disorder 22

Autosomal Recessive Intellectual Developmental Disorder 7

Mental Retardation, Autosomal Recessive 7

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

Pharynx Squamous Cell Carcinoma
Hypermethioninemia Due To Adenosine Kinase Deficiency

Adk Hypermethioninemia

Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

Hypermethioninemia Encephalopathy Due To Adk Deficiency

Mrt8

Mental Retardation, Autosomal Recessive 8, Formerly

Mrt8, Formerly

HMAKD

Mental Retardation, Autosomal Recessive 8

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

XMEN

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

Cid Due To Magt1 Deficiency

Combined Immunodeficiency Due To Magt1 Deficiency

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An

X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

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
Mus musculus TUSC3 MGD MGI:1933134
Macaca mulatta TUSC3 VGNC VGNC:84132
Canis familiaris TUSC3 VGNC VGNC:56082
Rattus norvegicus TUSC3 RGD RGD:1303318
Felis catus TUSC3 VGNC VGNC:80096