TGM6 (transglutaminase 6)

2014-11-01  

Identity

HGNC
TGM6
LOCATION
20p13
LOCUSID
343641
ALIAS
SCA35,TG6,TGM3L,TGY,dJ734P14.3

Other Information

Locus ID:

NCBI: 343641
MIM: 613900
HGNC: 16255
Ensembl: ENSG00000166948

Variants:

dbSNP: 343641
ClinVar: 343641
TCGA: ENSG00000166948
COSMIC: TGM6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166948ENST00000202625O95932
ENSG00000166948ENST00000381423O95932

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
225276812012Recent advances in the genetics of cerebellar ataxias.26
203007882010Gluten T cell epitope targeting by TG3 and TG6; implications for dermatitis herpetiformis and gluten ataxia.20
242757212014Genetics of dizziness: cerebellar and vestibular disorders.13
219397892011Human inter-α-inhibitor is a substrate for factor XIIIa and tissue transglutaminase.5
302878562018Genome-wide association study identifies two risk loci for tuberculosis in Han Chinese.5
188256742008Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase.0
211065002010TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.0
214536932011IgA-class autoantibodies against neuronal transglutaminase, TG6 in celiac disease: no evidence for gluten dependency.0
225540202013Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.0
232066992013Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis.0

Citation

Dessen P

TGM6 (transglutaminase 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74661/tgm6