Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7991
Gene name Gene Name - the full gene name approved by the HGNC.	Tumor suppressor candidate 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TUSC3
Synonyms (NCBI Gene) Gene synonyms aliases	D8S1992, M33, MRT22, MRT7, MagT2, N33, OST3A, SLC58A2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MRT7
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8p22
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200667343	C>A,G	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs387906804	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1554461593	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585215916	->C	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(80)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022014	hsa-miR-128-3p	Sequencing	20371350
MIRT029507	hsa-miR-26b-5p	Microarray	19088304
MIRT050240	hsa-miR-25-3p	CLASH	23622248
MIRT036380	hsa-miR-1229-3p	CLASH	23622248
MIRT731403	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	28288641
MIRT731403	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	28288641
MIRT731404	hsa-miR-30e-5p	Luciferase reporter assay, Western blot	28288641
MIRT731404	hsa-miR-30e-5p	Luciferase reporter assay, Western blot	28288641
MIRT736041	hsa-miR-873-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32655319
MIRT755797	hsa-miR-320d	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR	34733314
MIRT1464229	hsa-miR-132	CLIP-seq
MIRT1464230	hsa-miR-136	CLIP-seq
MIRT1464231	hsa-miR-150	CLIP-seq
MIRT1464232	hsa-miR-181a	CLIP-seq
MIRT1464233	hsa-miR-181b	CLIP-seq
MIRT1464234	hsa-miR-181c	CLIP-seq
MIRT1464235	hsa-miR-181d	CLIP-seq
MIRT1464236	hsa-miR-1914	CLIP-seq
MIRT1464237	hsa-miR-194	CLIP-seq
MIRT1464238	hsa-miR-203	CLIP-seq
MIRT1464239	hsa-miR-212	CLIP-seq
MIRT1464240	hsa-miR-30a	CLIP-seq
MIRT1464241	hsa-miR-30b	CLIP-seq
MIRT1464242	hsa-miR-30c	CLIP-seq
MIRT1464243	hsa-miR-30d	CLIP-seq
MIRT1464244	hsa-miR-30e	CLIP-seq
MIRT1464245	hsa-miR-3123	CLIP-seq
MIRT1464246	hsa-miR-3607-3p	CLIP-seq
MIRT1464247	hsa-miR-3646	CLIP-seq
MIRT1464248	hsa-miR-3686	CLIP-seq
MIRT1464249	hsa-miR-3688-5p	CLIP-seq
MIRT1464250	hsa-miR-3925-5p	CLIP-seq
MIRT1464251	hsa-miR-3976	CLIP-seq
MIRT1464252	hsa-miR-4262	CLIP-seq
MIRT1464253	hsa-miR-4422	CLIP-seq
MIRT1464254	hsa-miR-4427	CLIP-seq
MIRT1464255	hsa-miR-4496	CLIP-seq
MIRT1464256	hsa-miR-4652-3p	CLIP-seq
MIRT1464257	hsa-miR-4699-3p	CLIP-seq
MIRT1464258	hsa-miR-4729	CLIP-seq
MIRT1464259	hsa-miR-4766-5p	CLIP-seq
MIRT1464260	hsa-miR-4786-3p	CLIP-seq
MIRT1464261	hsa-miR-4796-5p	CLIP-seq
MIRT1464262	hsa-miR-513a-3p	CLIP-seq
MIRT1464263	hsa-miR-515-5p	CLIP-seq
MIRT1464264	hsa-miR-543	CLIP-seq
MIRT1464265	hsa-miR-570	CLIP-seq
MIRT1464266	hsa-miR-603	CLIP-seq
MIRT1464267	hsa-miR-616	CLIP-seq
MIRT1464268	hsa-miR-873	CLIP-seq
MIRT1464240	hsa-miR-30a	CLIP-seq
MIRT1464241	hsa-miR-30b	CLIP-seq
MIRT1464242	hsa-miR-30c	CLIP-seq
MIRT1464243	hsa-miR-30d	CLIP-seq
MIRT1464244	hsa-miR-30e	CLIP-seq
MIRT2139641	hsa-miR-3121-5p	CLIP-seq
MIRT2139642	hsa-miR-3145-3p	CLIP-seq
MIRT2139643	hsa-miR-340	CLIP-seq
MIRT2139644	hsa-miR-3674	CLIP-seq
MIRT2139645	hsa-miR-3935	CLIP-seq
MIRT2139646	hsa-miR-410	CLIP-seq
MIRT1464254	hsa-miR-4427	CLIP-seq
MIRT2139647	hsa-miR-4438	CLIP-seq
MIRT2139648	hsa-miR-4452	CLIP-seq
MIRT2139649	hsa-miR-4698	CLIP-seq
MIRT2139650	hsa-miR-590-3p	CLIP-seq
MIRT2360227	hsa-miR-3143	CLIP-seq
MIRT2360228	hsa-miR-338-5p	CLIP-seq
MIRT2139649	hsa-miR-4698	CLIP-seq
MIRT2360229	hsa-miR-4803	CLIP-seq
MIRT2360230	hsa-miR-548p	CLIP-seq
MIRT2653567	hsa-miR-188-5p	CLIP-seq
MIRT2360228	hsa-miR-338-5p	CLIP-seq
MIRT2653568	hsa-miR-339-5p	CLIP-seq
MIRT2653569	hsa-miR-4738-3p	CLIP-seq
MIRT2653570	hsa-miR-4775	CLIP-seq
MIRT2653571	hsa-miR-486-5p	CLIP-seq
MIRT1464264	hsa-miR-543	CLIP-seq
MIRT2653572	hsa-miR-586	CLIP-seq
MIRT2139650	hsa-miR-590-3p	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	19717468
GO:0006487	Process	Protein N-linked glycosylation	NAS	18455129
GO:0008250	Component	Oligosaccharyltransferase complex	IBA	21873635
GO:0008250	Component	Oligosaccharyltransferase complex	IDA	15835887
GO:0015095	Function	Magnesium ion transmembrane transporter activity	IMP	19717468
GO:0015095	Function	Magnesium ion transmembrane transporter activity	TAS
GO:0015693	Process	Magnesium ion transport	IMP	19717468
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IBA	21873635
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IMP	26864433
GO:0018279	Process	Protein N-linked glycosylation via asparagine	ISS
GO:0018279	Process	Protein N-linked glycosylation via asparagine	TAS
GO:0050890	Process	Cognition	IMP	18455129
GO:0055085	Process	Transmembrane transport	TAS
GO:1903830	Process	Magnesium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
601385	30242	ENSG00000104723

Protein

UniProt ID

Q13454

Protein name

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 (Oligosaccharyl transferase subunit TUSC3) (Magnesium uptake/transporter TUSC3) (Protein N33) (Tumor suppressor candidate 3)

Protein function

Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus mot

PDB

4M8G , 4M90 , 4M91 , 4M92

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04756	OST3_OST6	54 → 342	OST3 / OST6 family, transporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas. {ECO:0000269|PubMed:12887896}.

Sequence

MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWS
SRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSS
AFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAK
WIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF
AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAESHIILVLNAAITMGMVLLNE
AATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYSDLDFE

Sequence length

348

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Protein processing in endoplasmic reticulum		Asparagine N-linked glycosylation Miscellaneous transport and binding events

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	27604308, 21739581, 27148795
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	27846195
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)

Show/Hide Unknown Diseases (5)

Disease term	Disease name	References	Source
Unknown
Mental depression	Depressive disorder, Unipolar Depression, Major Depressive Disorder	29559929	ClinVar
Non-Syndromic Intellectual Disability	autosomal recessive non-syndromic intellectual disability		GenCC
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder		GWAS
Metabolic Syndrome	Metabolic Syndrome		GWAS
Biliary Atresia	Biliary Atresia		GWAS

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	25809865
Carcinoma Hepatocellular	Inhibit	36274132
Carcinoma Squamous Cell	Inhibit	35137520
Cerebral Palsy	Associate	34580524
Colitis Ulcerative	Associate	20505342
Colorectal Neoplasms	Associate	15526363
Developmental Disabilities	Associate	27148795
Esophageal Squamous Cell Carcinoma	Associate	27994502
Glaucoma	Associate	22312193
Glioblastoma	Inhibit	27177902
Glioblastoma	Associate	28303930, 28901390, 37894860
Glioma	Inhibit	27177902
Intellectual Disability	Associate	21513506, 25966277, 27148795, 30500859
Laryngeal Neoplasms	Associate	17641416
Lymphatic Metastasis	Inhibit	17641416
Mental Retardation Autosomal Recessive 4	Associate	18452889, 21557188, 34580524
Mental Retardation X Linked Nonsyndromic	Associate	18455129, 24685145
Neoplasm Metastasis	Associate	17641416, 35137520
Neoplasms	Inhibit	16270321, 20505342, 24685145, 26483173, 27177902, 27994502, 35137520, 36274132
Neoplasms	Associate	28901390
Netherton Syndrome	Associate	18452889
Nonsyndromic Deafness	Associate	18452889
Ovarian Neoplasms	Inhibit	16270321
Pancreatic Neoplasms	Associate	16036106, 32894098
Progressive hearing loss stapes fixation	Associate	18455129
Psychological Trauma	Associate	34580524
Sleep Initiation and Maintenance Disorders	Associate	33530007
Status Asthmaticus	Associate	22424883
Tertiary Lymphoid Structures	Associate	17641416
Thyroid Cancer Papillary	Associate	11752453
Uterine Cervical Neoplasms	Inhibit	35137520

TUSC3 (tumor suppressor candidate 3)