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

Gene ID: 388630, updated on 11-Apr-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. Is integral component of organelle membrane and integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in kidney (RPKM 3.6), gall bladder (RPKM 0.8) and 16 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (47760528..47997385, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (47639427..47876248, complement)
105.20220307 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)

Genotypes

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_2023_10

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

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