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    TGM6 transglutaminase 6 [ Homo sapiens (human) ]

    Gene ID: 343641, updated on 2-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
    mouse all
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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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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
    		Compare labs

    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)

    Genotypes

    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 
    Process Evidence Code Pubs
    involved_in peptide cross-linking IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

    Gene LinkOut

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