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    THADA THADA armadillo repeat containing [ Homo sapiens (human) ]

    Gene ID: 63892, updated on 11-Apr-2024

    Summary

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    Official Symbol
    THADAprovided by HGNC
    Official Full Name
    THADA armadillo repeat containingprovided by HGNC
    Primary source
    HGNC:HGNC:19217
    See related
    Ensembl:ENSG00000115970 MIM:611800; AllianceGenome:HGNC:19217
    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
    GITA; ARMC13; Trm732
    Summary
    This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.5), thyroid (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p21
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (43230851..43596038, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (43236217..43601426, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (43457990..43823177, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11423 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:43453393-43454356 Neighboring gene long intergenic non-protein coding RNA 1126 Neighboring gene Sharpr-MPRA regulatory region 2712 Neighboring gene ZFP36 ring finger protein like 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:43500316-43500816 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:43500817-43501317 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:43519973-43521172 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:43524271-43524772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15673 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:43653235-43654434 Neighboring gene RNA, U6 small nuclear 958, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15678 Neighboring gene RNA, 7SL, cytoplasmic 531, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15679 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:43809645-43809864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11427 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:43892733-43893363 Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H2 Neighboring gene Sharpr-MPRA regulatory region 13975 Neighboring gene zinc finger protein 106 homolog (mouse) pseudogene Neighboring gene C1GALT1 specific chaperone 1 like

    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
    • 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. Identification of a Trm732 Motif Required for 2'-O-methylation of the tRNA Anticodon Loop by Trm7. Funk HM, et al. ACS Omega, 2022 Apr 26. PMID 35559166, Free PMC Article
    2. Replication study of THADA rs13429458 variant with PCOS susceptibility and its related traits in Indian women. Dadachanji R, et al. Gynecol Endocrinol, 2021 Aug. PMID 33779462
    3. THADA_rs13429458 Minor Allele Increases the Risk of Polycystic Ovary Syndrome in Asian, but Not in Caucasian Women: A Systematic Review and Meta-Analysis. Park S, et al. Horm Metab Res, 2019 Oct. PMID 31487746
    4. Excess maternal transmission of variants in the THADA gene to offspring with type 2 diabetes. Prasad RB, et al. Diabetologia, 2016 Aug. PMID 27155871
    5. Genetics of Type 2 Diabetes: It Matters From Which Parent We Inherit the Risk. Lyssenko V, et al. Rev Diabet Stud, 2015 Fall-Winter. PMID 27111116, Free PMC Article

    See all (113) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Negative regulation of thyroid adenoma-associated protein (THADA) in the cardiac glycoside-induced anti-cancer effect.
      Title: Negative regulation of thyroid adenoma-associated protein (THADA) in the cardiac glycoside-induced anti-cancer effect.
    2. THADA, SDHAF4, and MACF1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes.
      Title: THADA, SDHAF4, and MACF1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes.
    3. Replication study of THADA rs13429458 variant with PCOS susceptibility and its related traits in Indian women.
      Title: Replication study of THADA rs13429458 variant with PCOS susceptibility and its related traits in Indian women.
    4. Clinicopathologic Characteristics of Thyroid Nodules Positive for the THADA-IGF2BP3 Fusion on Preoperative Molecular Analysis.
      Title: Clinicopathologic Characteristics of Thyroid Nodules Positive for the THADA-IGF2BP3 Fusion on Preoperative Molecular Analysis.
    5. Of the 15 variants, 3 variants (rs13405728 in LHCGR; rs13429458 in THADA and rs2209972 IDE genes) were found to be associated with PCOS. The association was successfully replicated in an independent cohort. Insilico analysis categorized two variants (rs13429458-THADA and rs2209972-IDE genes) as deleterious.
      Title: Pooled genetic analysis identifies variants that confer enhanced susceptibility to PCOS in Indian ethnicity.
    6. THADA_rs13429458 Minor Allele is associated with Polycystic Ovary Syndrome in Asian, but Not in Caucasian Women.
      Title: THADA_rs13429458 Minor Allele Increases the Risk of Polycystic Ovary Syndrome in Asian, but Not in Caucasian Women: A Systematic Review and Meta-Analysis.
    7. Genetic variants of PCOS (rs13405728 in LHCGR gene; rs13429458 in THADA gene and rs2479106 in DENND1A gene) may not be involved in the development of preeclampsia in Han Chinese women.
      Title: Association study between variants in LHCGR DENND1A and THADA with preeclampsia risk in Han Chinese populations.
    8. THADA fusion is a mechanism of IGF2BP3 activation and IGF1R signaling in thyroid cancer.
      Title: THADA fusion is a mechanism of IGF2BP3 activation and IGF1R signaling in thyroid cancer.
    9. this identifies THADA as a regulator of the balance between energy consumption and energy storage, which was selected during human evolution.
      Title: THADA Regulates the Organismal Balance between Energy Storage and Heat Production.
    10. association of the THADA, FOXP4, GPRC6A/RFX6 and 8q24 genes with prostate cancer in Asian populations.
      Title: Association of THADA, FOXP4, GPRC6A/RFX6 genes and 8q24 risk alleles with prostate cancer in Northern Chinese men.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    EBI GWAS Catalog
    Common variants in the trichohyalin gene are associated with straight hair in Europeans.
    EBI GWAS Catalog
    Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
    EBI GWAS Catalog
    Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
    EBI GWAS Catalog
    Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21877, FLJ44016, FLJ44876, FLJ77530, KIAA1767

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme regulator activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adaptive thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of lipid homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of endoplasmic reticulum calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tRNA methylation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in tRNA nucleoside ribose methylation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasmic side of endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    tRNA (32-2'-O)-methyltransferase regulator THADA
    Names
    Trm732 homolog
    death receptor-interacting protein
    gene inducing thyroid adenomas protein
    thyroid adenoma-associated protein

    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_051580.1 RefSeqGene

      Range
      5009..370196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001083953.2 → NP_001077422.1  tRNA (32-2'-O)-methyltransferase regulator THADA isoform a

      See identical proteins and their annotated locations for NP_001077422.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 8 encode the same isoform (a).
      Source sequence(s)
      AB051554, AC092615, AY149629, BC025773
      Consensus CDS
      CCDS46268.1
      UniProtKB/Swiss-Prot
      A8K1V8, B7WNS6, Q3KR04, Q53RC6, Q53TB2, Q6YHU2, Q6YHU6, Q6ZU38, Q8IY32, Q8TAU8, Q96I88, Q9BZF7, Q9C096, Q9H6U0, Q9H6W7
      Related
      ENSP00000385995.4, ENST00000405006.8
      Conserved Domains (1) summary
      pfam10350
      Location:952 → 1247
      DUF2428; Putative death-receptor fusion protein (DUF2428)

    2. NM_001271643.2 → NP_001258572.1  tRNA (32-2'-O)-methyltransferase regulator THADA isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AB051554, AC092615, AK126004, CA312282
      Consensus CDS
      CCDS62902.1
      UniProtKB/TrEMBL
      B5MC89
      Related
      ENSP00000385441.2, ENST00000402360.6

    3. NM_001271644.2 → NP_001258573.1  tRNA (32-2'-O)-methyltransferase regulator THADA isoform c

      See identical proteins and their annotated locations for NP_001258573.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      BC037990, DA332700
      Consensus CDS
      CCDS62901.1
      UniProtKB/TrEMBL
      B5MC89
      Related
      ENSP00000384266.1, ENST00000404790.5
      Conserved Domains (1) summary
      PLN03162
      Location:471 → 518
      PLN03162; golden-2 like transcription factor; Provisional

    4. NM_001345923.2 → NP_001332852.1  tRNA (32-2'-O)-methyltransferase regulator THADA isoform d

      Status: REVIEWED

      Source sequence(s)
      AC010883, AC092615, AC092838

    5. NM_001345924.2 → NP_001332853.1  tRNA (32-2'-O)-methyltransferase regulator THADA isoform e

      Status: REVIEWED

      Source sequence(s)
      AC010883, AC092615, AC092838

    6. NM_001345925.2 → NP_001332854.1  tRNA (32-2'-O)-methyltransferase regulator THADA isoform a

      Status: REVIEWED

      Source sequence(s)
      AC010883, AC092615, AC092838
      Consensus CDS
      CCDS46268.1
      UniProtKB/Swiss-Prot
      A8K1V8, B7WNS6, Q3KR04, Q53RC6, Q53TB2, Q6YHU2, Q6YHU6, Q6ZU38, Q8IY32, Q8TAU8, Q96I88, Q9BZF7, Q9C096, Q9H6U0, Q9H6W7

    7. NM_022065.5 → NP_071348.3  tRNA (32-2'-O)-methyltransferase regulator THADA isoform a

      See identical proteins and their annotated locations for NP_071348.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2 and 8 encode the same isoform (a).
      Source sequence(s)
      AY149629, BC025773
      Consensus CDS
      CCDS46268.1
      UniProtKB/Swiss-Prot
      A8K1V8, B7WNS6, Q3KR04, Q53RC6, Q53TB2, Q6YHU2, Q6YHU6, Q6ZU38, Q8IY32, Q8TAU8, Q96I88, Q9BZF7, Q9C096, Q9H6U0, Q9H6W7
      Related
      ENSP00000386088.2, ENST00000405975.7
      Conserved Domains (1) summary
      pfam10350
      Location:952 → 1247
      DUF2428; Putative death-receptor fusion protein (DUF2428)

    RNA

    1. NR_073394.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY149633, BC025773
      Related
      ENST00000398653.5

    2. NR_144316.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC010883, AC092615, AC092838

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      43230851..43596038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      43236217..43601426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6YHU6.1 GenPept UniProtKB/Swiss-Prot:Q6YHU6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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