U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 63892, updated on 19-Sep-2024

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See THADA in Genome Data Viewer
Location:
2p21
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (43230851..43596038, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (43236217..43601426, complement)
RS_2024_09 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

NEW Try the new Transcript table

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_001083953.2NP_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:9521247
    DUF2428; Putative death-receptor fusion protein (DUF2428)
  2. NM_001271643.2NP_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_001271644.2NP_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:471518
    PLN03162; golden-2 like transcription factor; Provisional
  4. NM_001345923.2NP_001332852.1  tRNA (32-2'-O)-methyltransferase regulator THADA isoform d

    Status: REVIEWED

    Source sequence(s)
    AC010883, AC092615, AC092838
  5. NM_001345924.2NP_001332853.1  tRNA (32-2'-O)-methyltransferase regulator THADA isoform e

    Status: REVIEWED

    Source sequence(s)
    AC010883, AC092615, AC092838
  6. NM_001345925.2NP_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_022065.5NP_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:9521247
    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_2024_08

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)