TGM6 (transglutaminase 6)

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCA35
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
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) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IBA 21873635
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IDA 23206699
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 23206699, 25253745, 29053796
GO:0018149 Process Peptide cross-linking IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613900 16255 ENSG00000166948
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Sequence length 706
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)		 23535033
Spinocerebellar ataxia Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, SPINOCEREBELLAR ATAXIA 35, Spinocerebellar ataxia type 35 rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926
View all (203 more)		 29053796, 25253745, 21106500, 22554020, 23206699
Cerebellar ataxia Progressive cerebellar ataxia rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Show/Hide Text Mining Associations (16)
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