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TGM6 transglutaminase 6 [ Homo sapiens (human) ]

Gene ID: 343641, updated on 14-Nov-2024

Summary

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Official Symbol
TGM6provided by HGNC
Official Full Name
transglutaminase 6provided by HGNC
Primary source
HGNC:HGNC:16255
See related
Ensembl:ENSG00000166948 MIM:613900; AllianceGenome:HGNC:16255
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TG6; TGY; SCA35; TGM3L; dJ734P14.3
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). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See TGM6 in Genome Data Viewer
Location:
20p13
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (2380901..2432753)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (2411268..2463114)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2361547..2413399)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904860 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2245384-2245939 Neighboring gene uncharacterized LOC105372503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2277351-2277884 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:2277885-2278417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17464 Neighboring gene transglutaminase 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:2310613-2311195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2320331-2320831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17467 Neighboring gene small nucleolar RNA, C/D box 119 Neighboring gene small nuclear ribonucleoprotein polypeptides B and B1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:2480910-2482109 Neighboring gene zinc finger protein 343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17469 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:2490387-2490982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12603

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. TGM6 variants in Parkinson's disease: clinical findings and functional evidence. Chen K, et al. J Integr Neurosci, 2020 Mar 30. PMID 32259886
  2. A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35. Fung JLF, et al. Parkinsonism Relat Disord, 2019 Jun. PMID 30670339
  3. Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase. Hadjivassiliou M, et al. Ann Neurol, 2008 Sep. PMID 18825674
  4. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Wang JL, et al. Brain, 2010 Dec. PMID 21106500
  5. Mutations in TGM6 induce the unfolded protein response in SCA35. Tripathy D, et al. Hum Mol Genet, 2017 Oct 1. PMID 28934387

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.
    Title: TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.
  2. TGM6 variants in Parkinson's disease: clinical findings and functional evidence.
    Title: TGM6 variants in Parkinson's disease: clinical findings and functional evidence.
  3. we identified 8 families with reported TGM6 variants sharing no features of Spinocerebellar ataxia 35
    Title: A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
  4. Importance of TGM6 mutations in Chinese cerebellar ataxia patients, not only in SCA families, but also in individuals with sporadic cerebellar ataxia.
    Title: TGM6 gene mutations in undiagnosed cerebellar ataxia patients.
  5. rs6114027 risk allele related to decreased transcripts in peripheral blood mononuclear cells from pulmonary tuberculosis patients
    Title: Genome-wide association study identifies two risk loci for tuberculosis in Han Chinese.
  6. Results indicate that mutations differently impacting on TG6 function cause neuronal dysfunction and death through diverse mechanisms.
    Title: Mutations in TGM6 induce the unfolded protein response in SCA35.
  7. TGM6 missense mutation cosegregated with AML in a large family.
    Title: Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia.
  8. Two missense mutations (p.R111C and p.D510H) and one 3-base pair deletion (p.E574del) in TGM6 were identified in Spinocerebellar ataxia 35.
    Title: Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.
  9. Whole-exome and targeted sequencing have defined the genetic basis of dizziness including new genes causing ataxia: GBA2, TGM6, ANO10 and SYT14
    Title: Genetics of dizziness: cerebellar and vestibular disorders.
  10. transglutaminase 6 could be involved in polyQ diseases.
    Title: Transglutaminase 6 interacts with polyQ proteins and promotes the formation of polyQ aggregates.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spinocerebellar ataxia type 35
MedGen: C3888031 OMIM: 613908 GeneReviews: Hereditary Ataxia Overview
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EBI GWAS Catalog

Description
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Cyclosporin (CsA) treatment prevents gp120-dependent induction of apoptosis by blocking the activation of Ca(2+)-dependent effector elements such as transglutaminase (TG) proteins PubMed
Envelope transmembrane glycoprotein gp41 env The HIV-1 transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro; soluble CD4 can block the transglutaminase-catalyzed incorporation of the polyamine spermidine into HIV-1 gp41 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein-glutamine gamma-glutamyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-glutamine gamma-glutamyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein-glutamine gamma-glutamyltransferase 6
Names
TGase Y
TGase-6
transglutaminase y
NP_001241663.1
NP_945345.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031917.1 RefSeqGene

    Range
    4994..56846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001254734.2 → NP_001241663.1  protein-glutamine gamma-glutamyltransferase 6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a coding exon in the 3' region compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AF540970, AL031678
    Consensus CDS
    CCDS58761.1
    UniProtKB/Swiss-Prot
    O95932
    Related
    ENSP00000370831.1, ENST00000381423.1
    Conserved Domains (3) summary
    smart00460
    Location:268 → 359
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:5 → 117
    Transglut_N; Transglutaminase family
    pfam00927
    Location:495 → 600
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  2. NM_198994.3 → NP_945345.2  protein-glutamine gamma-glutamyltransferase 6 isoform 1

    See identical proteins and their annotated locations for NP_945345.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF540969, AL031678
    Consensus CDS
    CCDS13025.1
    UniProtKB/Swiss-Prot
    O95932, Q5JXU4, Q5JXU5, Q719M2, Q719M3, Q9Y4U8
    Related
    ENSP00000202625.2, ENST00000202625.7
    Conserved Domains (3) summary
    smart00460
    Location:268 → 359
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:5 → 117
    Transglut_N; Transglutaminase family
    pfam00927
    Location:495 → 600
    Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    2380901..2432753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    2411268..2463114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95932.3 GenPept UniProtKB/Swiss-Prot:O95932

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