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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7991
Gene name	Tumor suppressor candidate 3
Gene symbol	TUSC3
Synonyms (NCBI Gene)	D8S1992M33MRT22MRT7MagT2N33OST3ASLC58A2
Chromosome	8
Chromosome location	8p22
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

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 assayWestern blot	28288641
MIRT731403	hsa-miR-181a-5p	Luciferase reporter assayWestern blot	28288641
MIRT731404	hsa-miR-30e-5p	Luciferase reporter assayWestern blot	28288641
MIRT731404	hsa-miR-30e-5p	Luciferase reporter assayWestern blot	28288641
MIRT736041	hsa-miR-873-5p	Luciferase reporter assayWestern blottingqRT-PCR	32655319
MIRT755797	hsa-miR-320d	Luciferase reporter assayWestern blottingMicroarrayqRT-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 (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	NAS	19717468
GO:0005886	Component	Plasma membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	NAS	18455129
GO:0008250	Component	Oligosaccharyltransferase complex	IBA
GO:0008250	Component	Oligosaccharyltransferase complex	IDA	15835887
GO:0008250	Component	Oligosaccharyltransferase complex	IEA
GO:0015095	Function	Magnesium ion transmembrane transporter activity	IEA
GO:0015095	Function	Magnesium ion transmembrane transporter activity	TAS
GO:0015693	Process	Magnesium ion transport	IGI	19717468
GO:0015693	Process	Magnesium ion transport	IGI	19717468
GO:0015693	Process	Magnesium ion transport	IMP	19717468
GO:0016020	Component	Membrane	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IBA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IMP	26864433
GO:0018279	Process	Protein N-linked glycosylation via asparagine	ISS
GO:0050890	Process	Cognition	IMP	18455129
GO:0055085	Process	Transmembrane transport	TAS
GO:1903830	Process	Magnesium ion transmembrane transport	IBA

MIM	HGNC	e!Ensembl
601385	30242	ENSG00000104723

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

199

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic	rs387906804	RCV001814010
Intellectual disability	Likely pathogenic; Pathogenic	rs200667343, rs773936260	RCV001171632 RCV001291202
Intellectual disability, autosomal recessive 24	Likely pathogenic; Pathogenic	rs200667343	RCV003388826
Intellectual disability, autosomal recessive 7	Likely pathogenic; Pathogenic	rs200667343, rs1251881194, rs2129179995, rs2486376936, rs1585215916, rs2129132478, rs387906804, rs1554486894, rs1554461593, rs773426468	RCV001039775 RCV001783995 RCV001808292 RCV002291467 RCV000008662 RCV003326688 RCV000023095 RCV001283843 RCV000585790 RCV001250412

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Uncertain significance	rs767851145	RCV005930532
Congenital disorder of glycosylation	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs1035972, rs17121892, rs11545035, rs886062764, rs886062765, rs761637643, rs886062767, rs886062769, rs886062770, rs750899051, rs574008930, rs149033081, rs188770392, rs765219222, rs537908016 View all (103 more)	RCV000304490 RCV000365457 RCV001158587 RCV000325083 RCV000384365 RCV000270995 RCV000331032 RCV000295787 RCV000350751 RCV000403604 RCV000364414 RCV000310777 RCV000371219 RCV000315747 RCV000407919 RCV000347357 RCV000403441 RCV000260887 RCV000286646 RCV000289852 RCV000350849 RCV000293536 RCV000406451 RCV000264220 RCV000360183 RCV000269983 RCV000397959 RCV000330470 RCV000376319 RCV000312492 RCV000394941 RCV000315069 RCV000264450 RCV000325297 RCV000347108 RCV000359056 RCV000385504 RCV000278912 RCV000338749 RCV000284962 RCV000275409 RCV000375052 RCV000341393 RCV000287767 RCV000353501 RCV000318482 RCV000356832 RCV000381994 RCV000305507 RCV000373526 RCV000339980 RCV000404448 RCV000276684 RCV000280435 RCV000321427 RCV000286516 RCV000367189 RCV000321718 RCV000378654 RCV000385296 RCV001165316 RCV001161697 RCV001161698 RCV001163213 RCV001163214 RCV001163215 RCV001163216 RCV001163217 RCV001165313 RCV001165314 RCV001165315 RCV001165317 RCV001158586 RCV001158588 RCV001158590 RCV001161810 RCV001161811 RCV001161812 RCV001161813 RCV001163323 RCV001163324 RCV001163325 RCV001163326 RCV001163327 RCV001163328 RCV001163329 RCV001165428 RCV001165429 RCV001165430 RCV001165431 RCV001165432 RCV001165433 RCV001165434 RCV001158705 RCV001158706 RCV001161921 RCV001163439 RCV001163440 RCV001163441 RCV001163732 RCV001163733 RCV001163734 RCV001163735 RCV001158815 RCV001158816 RCV001158817 RCV001160156 RCV001160157 RCV001160158 RCV001160159 RCV001160160 RCV001160161 RCV001163540 RCV001163541 RCV001163542 RCV001158483 RCV001158589 RCV001161809
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs201325136, rs182645260	RCV005931498 RCV005899353
TUSC3-related disorder	Benign; Likely benign; Uncertain significance	rs17121892, rs587780496, rs11545035, rs201469989, rs200808372	RCV003925068 RCV003945061 RCV003925163 RCV003939341 RCV004758721

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)