Misplaced Pages

TGM6
Identifiers
Aliases	TGM6, SCA35, TG6, TGM3L, TGY, dJ734P14.3, transglutaminase 6
External IDs	OMIM: 613900; MGI: 3044321; HomoloGene: 27970; GeneCards: TGM6; OMA:TGM6 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) Band 20p13 Start 2,380,901 bp End 2,432,753 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F1 Start 129,954,336 bp End 129,996,152 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in epithelium of colon bone marrow cells tonsil striated muscle tissue skeletal muscle tissue gonad urinary bladder mammary gland female breast lactiferous gland Top expressed in hair follicle lip embryo skin of back zygote skin of abdomen secondary oocyte spermatocyte renal corpuscle spermatid More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity acyltransferase activity protein-glutamine gamma-glutamyltransferase activity metal ion binding Cellular component cytoplasm Biological process peptide cross-linking Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 343641 241636 Ensembl ENSG00000166948 ENSMUSG00000027403 UniProt O95932 n/a RefSeq (mRNA) NM_198994 NM_001254734 NM_001289747 NM_001289748 NM_001289749 NM_177726 RefSeq (protein) NP_001241663 NP_945345 n/a Location (UCSC) Chr 20: 2.38 – 2.43 Mb Chr 2: 129.95 – 130 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Transglutaminase 6 is a protein that in humans is encoded by the TGM6 gene.

Function and Clinical Significance

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). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. .

Mutations in TGM6 cause acute myeloid leukaemia. The presence of antibodies against TG6 is statistically related to gluten ataxia, amongst other conditions.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000166948 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000027403 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Transglutaminase 6". Retrieved 2014-04-29.
6. Pan LL, Huang YM, Wang M, Zhuang XE, Luo DF, Guo SC, Zhang ZS, Huang Q, Lin SL, Wang SY (Feb 2015). "Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia". European Journal of Human Genetics. 23 (2): 218–23. doi:10.1038/ejhg.2014.67. PMC 4297898. PMID 24755948.

Further reading

• Lindfors K, Koskinen O, Laurila K, Collin P, Saavalainen P, Haimila K, Partanen J, Mäki M, Kaukinen K (Jun 2011). "IgA-class autoantibodies against neuronal transglutaminase, TG6 in celiac disease: no evidence for gluten dependency". Clinica Chimica Acta; International Journal of Clinical Chemistry. 412 (13–14): 1187–90. doi:10.1016/j.cca.2010.09.042. PMID 21453693.
• Thomas H, Beck K, Adamczyk M, Aeschlimann P, Langley M, Oita RC, Thiebach L, Hils M, Aeschlimann D (Jan 2013). "Transglutaminase 6: a protein associated with central nervous system development and motor function". Amino Acids. 44 (1): 161–77. doi:10.1007/s00726-011-1091-z. PMC 3535377. PMID 21984379.
• Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager PL, Farrer LA, Saykin AJ, Shulman JM, Naj A, Green RC (Jan 2014). "Genome-wide association study of the rate of cognitive decline in Alzheimer's disease". Alzheimer's & Dementia. 10 (1): 45–52. doi:10.1016/j.jalz.2013.01.008. PMC 3760995. PMID 23535033.
• Grenard P, Bates MK, Aeschlimann D (Aug 2001). "Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z". The Journal of Biological Chemistry. 276 (35): 33066–78. doi:10.1074/jbc.M102553200. PMID 11390390.
• Hadjivassiliou M, Aeschlimann P, Strigun A, Sanders DS, Woodroofe N, Aeschlimann D (Sep 2008). "Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase". Annals of Neurology. 64 (3): 332–43. doi:10.1002/ana.21450. PMID 18825674. S2CID 39872358.
• Stamnaes J, Dorum S, Fleckenstein B, Aeschlimann D, Sollid LM (Nov 2010). "Gluten T cell epitope targeting by TG3 and TG6; implications for dermatitis herpetiformis and gluten ataxia". Amino Acids. 39 (5): 1183–91. doi:10.1007/s00726-010-0554-y. PMID 20300788. S2CID 23702283.
• Guan WJ, Wang JL, Liu YT, Ma YT, Zhou Y, Jiang H, Shen L, Guo JF, Xia K, Li JD, Tang BS (Jan 2013). "Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis". Biochemical and Biophysical Research Communications. 430 (2): 780–6. doi:10.1016/j.bbrc.2012.11.069. PMID 23206699.
• Scavenius C, Sanggaard KW, Nikolajsen CL, Bak S, Valnickova Z, Thøgersen IB, Jensen ON, Højrup P, Enghild JJ (Dec 2011). "Human inter-α-inhibitor is a substrate for factor XIIIa and tissue transglutaminase". Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics. 1814 (12): 1624–30. doi:10.1016/j.bbapap.2011.08.017. PMID 21939789.
• Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS (Dec 2010). "TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing". Brain. 133 (Pt 12): 3510–8. doi:10.1093/brain/awq323. PMID 21106500.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

• Genes on human chromosome 20