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

Gene ID: 129293, updated on 5-Mar-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. Is integral component of organelle membrane and integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
2p11.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (84821666..84881084, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (84823433..84882841, complement)
105.20220307 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)

Genotypes

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_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
    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

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