TGM6 (transglutaminase 6)

Gene

• Entrez ID: 343641
• Gene name: Transglutaminase 6
• Gene symbol: TGM6
• Synonyms (NCBI Gene): SCA35, TG6, TGM3L, TGY, dJ734P14.3
• Chromosome: 20
• Chromosome location: 20p13
• Summary: 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 613900
• HGNC: 16255
• e!Ensembl: 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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Spinocerebellar ataxia type 35	Likely pathogenic; Pathogenic	rs750743855, rs766605124, rs2122376594, rs372250159, rs793888526	RCV001327983 RCV001849201 RCV001730101 RCV000170474 RCV000170475
TGM6-related disorder	Likely pathogenic	rs1026525677	RCV003410753

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs387907097	RCV000077795
Autosomal dominant cerebellar ataxia	Benign; Likely benign	rs557817405	RCV000314657
Axial muscle stiffness	Uncertain significance	rs766248910	RCV000627014
Colorectal cancer	Benign	rs6114033	RCV005896233
Myopathic facies	Uncertain significance	rs766248910	RCV000627014
Oculomotor apraxia	Uncertain significance	rs766248910	RCV000627014
Parkinson disease	Uncertain significance; Benign; Likely benign	rs201024326, rs147979536	RCV005627493 RCV005627360
Parkinsonian disorder	Uncertain significance; Benign; Likely benign	rs201024326, rs147979536, rs766248910	RCV005627493 RCV005627360 RCV000627014
Polyneuropathy	Conflicting classifications of pathogenicity	rs201338900	RCV000850333
Rigidity	Uncertain significance	rs766248910	RCV000627014
See cases	Uncertain significance	rs1218671148	RCV002252356
Uterine carcinosarcoma	Likely benign	rs146529216	RCV005913852
Vascular parkinsonism	Uncertain significance; Benign; Likely benign	rs201024326, rs147979536	RCV005627493 RCV005627360

Associations from Text Mining
Disease Name	Relationship Type	References
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