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    TRABD2B TraB domain containing 2B [ Homo sapiens (human) ]

    Gene ID: 388630, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TRABD2Bprovided by HGNC
    Official Full Name
    TraB domain containing 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:44200
    See related
    Ensembl:ENSG00000269113 MIM:614913; AllianceGenome:HGNC:44200
    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
    TIKI2
    Summary
    Enables Wnt-protein binding activity and metalloendopeptidase activity. Involved in several processes, including negative regulation of Wnt signaling pathway; positive regulation of protein oxidation; and positive regulation of protein-containing complex assembly. Located in organelle membrane and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney (RPKM 3.6), gall bladder (RPKM 0.8) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRABD2B in Genome Data Viewer
    Location:
    1p33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (47760528..47997385, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (47639427..47876248, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (48226200..48463057, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:48030134-48030712 Neighboring gene ATPase H+ transporting V0 subunit e1 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48032789-48033289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48056158-48056698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48108761-48109316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48152512-48153200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:48153201-48153889 Neighboring gene uncharacterized LOC124904174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48173729-48174695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48176482-48176982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 860 Neighboring gene long intergenic non-protein coding RNA 1738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48190497-48191064 Neighboring gene Sharpr-MPRA regulatory region 13425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48240987-48241521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48251591-48252091 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:48259887-48260120 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48347328-48347854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48347855-48348380 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:48360287-48361284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48362752-48363252 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:48363755-48364280 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8235 Neighboring gene Sharpr-MPRA regulatory region 2886 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48399564-48400079 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1009 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:48471086-48471636 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:48490345-48491176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48498970-48499470 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:48526713-48527257 Neighboring gene long intergenic non-protein coding RNA 2794 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:48558178-48559377 Neighboring gene cytochrome P450 family 46 subfamily A member 4, pseudogene Neighboring gene Skint1 like (pseudogene)

    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. TIKI2 is upregulated and plays an oncogenic role in renal cell carcinoma. Yuan X, et al. Oncotarget, 2016 Mar 29. PMID 26942462, Free PMC Article
    2. Characterization of Tiki, a New Family of Wnt-specific Metalloproteases. Zhang X, et al. J Biol Chem, 2016 Jan 29. PMID 26631728, Free PMC Article
    3. TIKI2 suppresses growth of osteosarcoma by targeting Wnt/β-catenin pathway. Li R, et al. Mol Cell Biochem, 2014 Jul. PMID 24771064
    4. A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity. Lopez LM, et al. Neurobiol Aging, 2012 Aug. PMID 22425255
    5. 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

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results of the present study indicate that TIKI2 is upregulated in renal cell carcinoma tissues and plays an oncogenic role in renal cell carcinoma
      Title: TIKI2 is upregulated and plays an oncogenic role in renal cell carcinoma.
    2. examination of the structural prediction and identification of the active site residues of human TIKI2
      Title: Characterization of Tiki, a New Family of Wnt-specific Metalloproteases.
    3. provided evidence that reduced expression of TIKI family protein in osteosarcoma may participate in the progression of osteosarcoma and restoring its expression was able to impair the growth of osteosarcoma
      Title: TIKI2 suppresses growth of osteosarcoma by targeting Wnt/β-catenin pathway.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00388

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Wnt-protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Wnt-protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables Wnt-protein binding IPI
    Inferred from Physical Interaction
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in organelle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in organelle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    metalloprotease TIKI2
    Names
    TRAB domain-containing protein 2B
    UPF0632 protein A
    heart, kidney and adipose-enriched transmembrane protein homolog

    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_001194986.2 → NP_001181915.1  metalloprotease TIKI2 precursor

      See identical proteins and their annotated locations for NP_001181915.1

      Status: VALIDATED

      Source sequence(s)
      AC099679, AL691459
      Consensus CDS
      CCDS58000.1
      UniProtKB/Swiss-Prot
      A6NFA1, I6U4Y0
      Related
      ENSP00000476820.1, ENST00000606738.3
      Conserved Domains (1) summary
      pfam01963
      Location:41 → 349
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      47760528..47997385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446935.2 → XP_024302703.1  metalloprotease TIKI2 isoform X4

      Conserved Domains (2) summary
      pfam01963
      Location:41 → 300
      TraB; TraB family
      cl26464
      Location:324 → 451
      Atrophin-1; Atrophin-1 family

    2. XM_024446933.2 → XP_024302701.1  metalloprotease TIKI2 isoform X2

      Conserved Domains (2) summary
      pfam01963
      Location:41 → 335
      TraB; TraB family
      cl26464
      Location:359 → 486
      Atrophin-1; Atrophin-1 family

    3. XM_017001262.3 → XP_016856751.1  metalloprotease TIKI2 isoform X8

    4. XM_017001261.3 → XP_016856750.1  metalloprotease TIKI2 isoform X7

    5. XM_017001260.3 → XP_016856749.1  metalloprotease TIKI2 isoform X5

    6. XM_006710640.5 → XP_006710703.1  metalloprotease TIKI2 isoform X1

      Conserved Domains (1) summary
      pfam01963
      Location:41 → 384
      TraB; TraB family

    7. XM_047420060.1 → XP_047276016.1  metalloprotease TIKI2 isoform X11

    8. XM_017001263.3 → XP_016856752.1  metalloprotease TIKI2 isoform X9

    9. XM_011541443.4 → XP_011539745.1  metalloprotease TIKI2 isoform X3

      Conserved Domains (1) summary
      pfam01963
      Location:41 → 384
      TraB; TraB family

    10. XM_011541445.4 → XP_011539747.1  metalloprotease TIKI2 isoform X10

      Conserved Domains (1) summary
      pfam01963
      Location:41 → 263
      TraB; TraB family

    11. XM_011541444.3 → XP_011539746.1  metalloprotease TIKI2 isoform X6

      Conserved Domains (1) summary
      pfam01963
      Location:41 → 384
      TraB; TraB family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      47639427..47876248 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336512.1 → XP_054192487.1  metalloprotease TIKI2 isoform X4

    2. XM_054336510.1 → XP_054192485.1  metalloprotease TIKI2 isoform X2

    3. XM_054336516.1 → XP_054192491.1  metalloprotease TIKI2 isoform X8

    4. XM_054336515.1 → XP_054192490.1  metalloprotease TIKI2 isoform X7

    5. XM_054336513.1 → XP_054192488.1  metalloprotease TIKI2 isoform X5

    6. XM_054336509.1 → XP_054192484.1  metalloprotease TIKI2 isoform X1

    7. XM_054336519.1 → XP_054192494.1  metalloprotease TIKI2 isoform X11

    8. XM_054336517.1 → XP_054192492.1  metalloprotease TIKI2 isoform X9

    9. XM_054336511.1 → XP_054192486.1  metalloprotease TIKI2 isoform X3

    10. XM_054336518.1 → XP_054192493.1  metalloprotease TIKI2 isoform X10

    11. XM_054336514.1 → XP_054192489.1  metalloprotease TIKI2 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NFA1.2 GenPept UniProtKB/Swiss-Prot:A6NFA1

    Gene LinkOut

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

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