Annotation Details for TGM3

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Basic Information Top

Gene Symbol:	TGM3 ( MGC126249,MGC126250,TGE )
Gene Full Name:	transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)
Band:	20p13
Quick Links	Entrez ID:7053; OMIM: 600238; Uniprot ID:TGM3_HUMAN; ENSEMBL ID: ENSG00000125780; HGNC ID: 11779
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:3 results
Molecular Function:4 results
Biological Process:8 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005737	IDA	-	cytoplasm	12850301
GO:0031234	IDA	-	extrinsic component of cytoplasmic side of plasma membrane	5038456
GO:0070062	IDA	-	extracellular exosome	19199708

GO ID	Evidence	Qualifier	GO_term	References
GO:0003810	IDA	-	protein-glutamine gamma-glutamyltransferase activity	8099584
GO:0003824	IDA	-	catalytic activity	8099584
GO:0005509	IDA	-	calcium ion binding	12679341
GO:0016746	TAS	-	transferase activity, transferring acyl groups	15193648

GO ID	Evidence	Qualifier	GO_term	References
GO:0006464	NAS	-	cellular protein modification process	8099584
GO:0018149	IDA	-	peptide cross-linking	24643
GO:0030216	IEP	-	keratinocyte differentiation	12850301
GO:0030216	TAS	-	keratinocyte differentiation	24643
GO:0031069	TAS	-	hair follicle morphogenesis	15193648
GO:0031424	IEA	-	keratinization	-
GO:0043163	IDA	-	cell envelope organization	24643
GO:0051262	IDA	-	protein tetramerization	5038456

Protein-Protein Interaction

BioGRID:6 results
BIND:0 results
HPRD:0 results

Gene Symbol	Interactant	Interaction ID	References	Description
TGM3	PRKAB1	111551	20562859	Affinity Capture-MS
TGM3	PRKAB1	112911	20562859	Affinity Capture-MS
LOC220594	TGM3	128649	19615732	Affinity Capture-MS
LOC220594	TGM3	112911	19615732	Affinity Capture-MS
USP53	TGM3	112911	19615732	Affinity Capture-MS
USP53	TGM3	120020	19615732	Affinity Capture-MS

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:98732
Data Attributes: MGI curated and HomoloGene calculated

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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