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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	343641
Gene name Gene Name - the full gene name approved by the HGNC.	Transglutaminase 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TGM6
Synonyms (NCBI Gene) Gene synonyms aliases	SCA35, TG6, TGM3L, TGY, dJ734P14.3
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20p13
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alte

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141258102	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs201964784	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs372250159	C>T	Pathogenic	Coding sequence variant, missense variant
rs377479985	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 3 prime UTR variant
rs387907097	T>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs387907098	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs793888526	AGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1181987535	->TCTCTGGCGTGACGACCTCCTG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555799865	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555799867	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555799870	TGCACAGGTA>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1599953368	G>A	Likely-pathogenic	Splice donor variant

Show/Hide all(5)

miRTarBase ID	miRNA	Experiments
MIRT1421902	hsa-miR-149	CLIP-seq
MIRT1421903	hsa-miR-3190	CLIP-seq
MIRT1421904	hsa-miR-4491	CLIP-seq
MIRT1421905	hsa-miR-4649-3p	CLIP-seq
MIRT1421906	hsa-miR-4657	CLIP-seq

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IBA
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IDA	23206699
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23206699, 25253745, 29053796
GO:0005737	Component	Cytoplasm	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
613900	16255	ENSG00000166948

Protein

UniProt ID

O95932

Protein name

Protein-glutamine gamma-glutamyltransferase 6 (EC 2.3.2.13) (Transglutaminase Y) (TGY) (TGase Y) (Transglutaminase-3-like) (TGase-3-like) (Transglutaminase-6) (TG6) (TGase-6)

Protein function

Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00868	Transglut_N	3 → 119	Transglutaminase family	Domain
PF01841	Transglut_core	252 → 357	Transglutaminase-like superfamily	Family
PF00927	Transglut_C	495 → 600	Transglutaminase family, C-terminal ig like domain	Domain
PF00927	Transglut_C	607 → 704	Transglutaminase family, C-terminal ig like domain	Domain

Sequence

MAGIRVTKVDWQRSRNGAAHHTQEYPCPELVVRRGQSFSLTLELSRALDCEEILIFTMET
GPRASEALHTKAVFQTSELERGEGWTAAREAQMEKTLTVSLASPPSAVIGRYLLSIRLSS
HRKHSNRRLGEFVLLFNPWCAEDDVFLASEEERQEYVLSDSGIIFRGVEKHIRAQGWNYG
QFEEDILNICLSILDRSPGHQNNPATDVSCRHNPIYVTRVISAMVNSNNDRGVVQGQWQG
KYGGGTSPLHWRGSVAILQKWLKGRYKPVKYGQCWVFAGVLCTVLRCLGIATRVVSNFNS
AHDTDQNLSVDKYVDSFGRTLEDLTEDSMWNFHVWNESWFARQDLGPSYNGWQVLDATPQ
EESEGVFRCGPASVTAIREGDVHLAHDGPFVFAEVNADYITWLWHEDESRERVYSNTKKI
GRCISTKAVGSDSRVDITDLYKYPEGSRKERQVYSKAVNRLFGVEASGRRIWIRRAGGRC
LWRDDLLEPATKPSIAGKFKVLEPPMLGHDLRLALCLANLTSRAQRVRVNLSGATILYTR
KPVAEILHESHAVRLGPQEEKRIPITISYSKYKEDLTEDKKILLAAMCLVTKGEKLLVEK
DITLEDFITIKVLGPAMVGVAVTVEVTVVNPLIERVKDCALMVEGSGLLQEQLSIDVPTL
EPQERASVQFDITPSKSGPRQLQVDLVSPHFPDIKGFVIVHVATAK

Sequence length

706

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Spinocerebellar Ataxia	spinocerebellar ataxia type 35	rs372250159, rs793888526	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
acute myeloid leukemia	Acute myeloid leukemia	N/A	N/A	ClinVar
Cerebellar Ataxia	Autosomal dominant cerebellar ataxia	N/A	N/A	ClinVar
Polyneuropathy	polyneuropathy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ataxia	Associate	33160304
Autoimmune Diseases	Associate	28542044
CD59 Deficiency	Associate	30229425
Celiac Disease	Associate	28542044
Cerebellar Ataxia	Associate	33160304
Cerebellar Diseases	Associate	33160304
Colorectal Neoplasms	Associate	30884206
Gastrointestinal Diseases	Associate	28542044
Neurologic Manifestations	Associate	28542044
Parkinson Disease	Associate	32259886
Parkinson Disease Secondary	Associate	32259886
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	24755948
Spinocerebellar Ataxias	Associate	30229425, 32259886, 33160304, 34298918
Spinocerebellar Degenerations	Associate	33160304
Supranuclear Palsy Progressive	Associate	34298918
Urologic Diseases	Associate	33160304

TGM6 (transglutaminase 6)