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

Gene ID: 63892, updated on 4-Jul-2021

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
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
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
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Genomic context

See THADA in Genome Data Viewer
Location:
2p21
Exon count:
41
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (43230851..43596046, complement)
105.20201022 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 uncharacterized LOC107985877 Neighboring gene long intergenic non-protein coding RNA 1126 Neighboring gene ZFP36 ring finger protein like 2 Neighboring gene RNA, U6 small nuclear 958, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 531, pseudogene 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
  • 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

Associated conditions

Description Tests
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
GeneReviews: Not available
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
GeneReviews: Not available
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
GeneReviews: Not available
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
GeneReviews: Not available
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
GeneReviews: Not available
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
GeneReviews: Not available
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
GeneReviews: Not available
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
GeneReviews: Not available
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21877, FLJ44016, FLJ44876, FLJ77530, KIAA1767

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
involved_in lipid homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of ATPase-coupled calcium transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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
PubMed 
Component Evidence Code Pubs
located_in cytoplasmic side of endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
thyroid adenoma-associated protein
Names
death receptor-interacting protein
gene inducing thyroid adenomas 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
    5073..370211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083953.2NP_001077422.1  thyroid adenoma-associated protein 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
    Q6YHU6
    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  thyroid adenoma-associated protein 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/Swiss-Prot
    Q6YHU6
    Related
    ENSP00000385441.2, ENST00000402360.6
  3. NM_001271644.2NP_001258573.1  thyroid adenoma-associated protein 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/Swiss-Prot
    Q6YHU6
    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  thyroid adenoma-associated protein isoform d

    Status: REVIEWED

    Source sequence(s)
    AC010883, AC092615, AC092838
  5. NM_001345924.2NP_001332853.1  thyroid adenoma-associated protein isoform e

    Status: REVIEWED

    Source sequence(s)
    AC010883, AC092615, AC092838
  6. NM_001345925.2NP_001332854.1  thyroid adenoma-associated protein isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010883, AC092615, AC092838
    Consensus CDS
    CCDS46268.1
    UniProtKB/Swiss-Prot
    Q6YHU6
  7. NM_022065.5NP_071348.3  thyroid adenoma-associated protein 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
    Q6YHU6
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    43230851..43596046 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712063.1XP_006712126.1  thyroid adenoma-associated protein isoform X1

    Conserved Domains (1) summary
    pfam10350
    Location:9121207
    DUF2428; Putative death-receptor fusion protein (DUF2428)
  2. XM_006712067.1XP_006712130.1  thyroid adenoma-associated protein isoform X5

    Conserved Domains (1) summary
    pfam10350
    Location:8301125
    DUF2428; Putative death-receptor fusion protein (DUF2428)
  3. XM_006712066.1XP_006712129.1  thyroid adenoma-associated protein isoform X4

    Conserved Domains (1) summary
    pfam10350
    Location:8311126
    DUF2428; Putative death-receptor fusion protein (DUF2428)
  4. XM_006712065.1XP_006712128.1  thyroid adenoma-associated protein isoform X3

    UniProtKB/Swiss-Prot
    Q6YHU6
    Conserved Domains (1) summary
    pfam10350
    Location:9521247
    DUF2428; Putative death-receptor fusion protein (DUF2428)
  5. XM_017004675.1XP_016860164.1  thyroid adenoma-associated protein isoform X9

    Conserved Domains (1) summary
    pfam10350
    Location:56351
    DUF2428; Putative death-receptor fusion protein (DUF2428)
  6. XM_006712069.3XP_006712132.1  thyroid adenoma-associated protein isoform X8

    Related
    ENSP00000386112.1, ENST00000407351.5
    Conserved Domains (1) summary
    pfam10350
    Location:135430
    DUF2428; Putative death-receptor fusion protein (DUF2428)
  7. XM_006712064.2XP_006712127.1  thyroid adenoma-associated protein isoform X2

    Conserved Domains (1) summary
    pfam10350
    Location:9521247
    DUF2428; Putative death-receptor fusion protein (DUF2428)
  8. XM_006712068.3XP_006712131.1  thyroid adenoma-associated protein isoform X6

    Conserved Domains (1) summary
    pfam10350
    Location:9521247
    DUF2428; Putative death-receptor fusion protein (DUF2428)
  9. XM_011533015.3XP_011531317.1  thyroid adenoma-associated protein isoform X7

    Conserved Domains (1) summary
    pfam10350
    Location:9521247
    DUF2428; Putative death-receptor fusion protein (DUF2428)
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