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    TRABD2A TraB domain containing 2A [ Homo sapiens (human) ]

    Gene ID: 129293, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TRABD2Aprovided by HGNC
    Official Full Name
    TraB domain containing 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:27013
    See related
    Ensembl:ENSG00000186854 MIM:614912; AllianceGenome:HGNC:27013
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TIKI1; C2orf89
    Summary
    Enables Wnt-protein binding activity and metalloendopeptidase activity. Involved in negative regulation of Wnt signaling pathway and proteolysis. Located in organelle membrane and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in colon (RPKM 11.1), ovary (RPKM 8.7) and 9 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TRABD2A in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (84821666..84881084, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (84823433..84882841, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85048790..85108208, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene dynein axonemal heavy chain 6 Neighboring gene ubiquitin specific peptidase 26 pseudogene Neighboring gene lactate dehydrogenase A pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85073645-85074146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85074147-85074646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85107450-85107952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85107953-85108453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16103 Neighboring gene uncharacterized LOC105374837 Neighboring gene uncharacterized LOC105374836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11689 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:85133043-85134242 Neighboring gene ribosomal protein L12 pseudogene 18 Neighboring gene thymosin beta 10

    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. Inhibition of Metalloprotease TRABD2A Facilitates the Study of HIV-1 Replication in Resting CD4(+) T Cells. Dong J, et al. J Virol, 2020 Feb 14. PMID 31801864, Free PMC Article
    2. Metalloprotease TRABD2A Restriction of HIV-1 Production in Monocyte-Derived Dendritic Cells. Liu M, et al. AIDS Res Hum Retroviruses, 2019 Oct. PMID 31282173
    3. Expression and evolution of the Tiki1 and Tiki2 genes in vertebrates. Reis AH, et al. Int J Dev Biol, 2014. PMID 25354456, Free PMC Article
    4. Tiki1 is required for head formation via Wnt cleavage-oxidation and inactivation. Zhang X, et al. Cell, 2012 Jun 22. PMID 22726442, Free PMC Article
    5. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibition of Metalloprotease TRABD2A Facilitates the Study of HIV-1 Replication in Resting CD4(+) T Cells.
      Title: Inhibition of Metalloprotease TRABD2A Facilitates the Study of HIV-1 Replication in Resting CD4(+) T Cells.
    2. Metalloprotease TRABD2A Restriction of HIV-1 Production in Monocyte-Derived Dendritic Cells.
      Title: Metalloprotease TRABD2A Restriction of HIV-1 Production in Monocyte-Derived Dendritic Cells.
    3. Tiki1 antagonizes Wnt function in embryos and human cells via a TIKI homology domain that is conserved from bacteria to mammals and acts likely as a protease to cleave eight amino-terminal residues of a Wnt protein, resulting in oxidized Wnt oligomers that exhibit normal secretion but minimized receptor-binding capability.
      Title: Tiki1 is required for head formation via Wnt cleavage-oxidation and inactivation.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46467

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Wnt-protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metalloendopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in head development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of protein-containing complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in organelle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    metalloprotease TIKI1
    Names
    TRAB domain-containing protein 2A
    UPF0632 protein C2orf89

    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.

    mRNA and Protein(s)

    1. NM_001080824.3 → NP_001074293.1  metalloprotease TIKI1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001074293.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding region exon, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      BC051789, BG170846
      Consensus CDS
      CCDS46349.1
      UniProtKB/Swiss-Prot
      Q86V40
      Related
      ENSP00000335004.5, ENST00000335459.9
      Conserved Domains (1) summary
      pfam01963
      Location:43 → 302
      TraB; TraB family

    2. NM_001277053.2 → NP_001263982.1  metalloprotease TIKI1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001263982.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC010087
      Consensus CDS
      CCDS62946.1
      UniProtKB/Swiss-Prot
      B4DKK8, I6UMB9, Q86V40
      Related
      ENSP00000387075.2, ENST00000409520.7
      Conserved Domains (1) summary
      pfam01963
      Location:43 → 351
      TraB; TraB family

    3. NM_001307978.2 → NP_001294907.1  metalloprotease TIKI1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001294907.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC010087, AK309615, BC049209, BC073808
      Consensus CDS
      CCDS77428.1
      UniProtKB/TrEMBL
      C9IYB5
      Related
      ENSP00000387183.1, ENST00000409133.1
      Conserved Domains (1) summary
      pfam01963
      Location:43 → 331
      TraB; TraB family

    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
      84821666..84881084 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443257.1 → XP_047299213.1  metalloprotease TIKI1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      84823433..84882841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340462.1 → XP_054196437.1  metalloprotease TIKI1 isoform X1

    RNA

    1. XR_008486267.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86V40.3 GenPept UniProtKB/Swiss-Prot:Q86V40

    Gene LinkOut

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

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