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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TRABD2B Gene

protein-coding   GIFtS: 32
GCID: GC01M048238

TraB Domain Containing 2B

  Search for TRABD2B
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
TraB Domain Containing 2B1 2     Metalloprotease TIKI22
Heart, Kidney And Adipose-Enriched Transmembrane Protein Homolog2 3     UPF0632 Protein A2
TIKI22 3     EC 3.4.-.-3
TRAB Domain-Containing Protein 2B2 3     HKAT3

External Ids:    HGNC: 442001   Entrez Gene: 3886302   Ensembl: ENSG000002040187   OMIM: 6149135   UniProtKB: A6NFA13   

Export aliases for TRABD2B gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TRABD2B Gene: 
TRABD2B (TraB domain containing 2B) is a protein-coding gene. GO annotations related to this gene include Wnt-protein binding and metalloendopeptidase activity. An important paralog of this gene is TRABD2A.

UniProtKB/Swiss-Prot: TIKI2_HUMAN, A6NFA1
Function: Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage
of the 8 N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and
form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11.
Required for head formation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TRABD2B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TRABD2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRABD2B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p33   Ensembl cytogenetic band:  1p33   HGNC cytogenetic band: 1p33

TRABD2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRABD2B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M048238:  view genomic region     (about GC identifiers)

Start:
48,226,200 bp from pter      End:
48,462,567 bp from pter
Size:
236,368 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TIKI2_HUMAN, A6NFA1 (See protein sequence)
Recommended Name: Metalloprotease TIKI2 precursor  
Size: 517 amino acids; 57421 Da
Cofactor: Divalent metal cations. Manganese or cobalt
Subcellular location: Cell membrane; Single-pass type I membrane protein
Miscellaneous: Was named TIKI in reference to large-headed humanoid in Polynesian mythology (PubMed:22726442)
Secondary accessions: I6U4Y0

Explore the universe of human proteins at neXtProt for TRABD2B: NX_A6NFA1

Explore proteomics data for TRABD2B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6NFA1

  • TRABD2B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TRABD2B Protein Expression
    REFSEQ proteins: NP_001181915.1  
    ENSEMBL proteins: 
     ENSP00000456730  

    Human Recombinant Protein Products for TRABD2B: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005887integral to plasma membrane IDA--
    GO:0031301integral to organelle membrane IDA--

    TRABD2B for ontologies           About GeneDecksing



    TRABD2B Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR002816 Pheromone_shutdown_TraB

    Graphical View of Domain Structure for InterPro Entry A6NFA1

    ProtoNet protein and cluster: A6NFA1

    UniProtKB/Swiss-Prot: TIKI2_HUMAN, A6NFA1
    Similarity: Belongs to the TIKI family


    TRABD2B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TIKI2_HUMAN, A6NFA1
    Function: Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage
    of the 8 N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and
    form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11.
    Required for head formation
    Enzyme regulation: Inhibited by 1,10-phenanthroline, a metalloprotease inhibitor which is a divalent metal
    chelator. Also inhibited by EDTA. Not inhibited by Bestatin, an aminopeptidase inhibitor, nor to a mixture of
    inhibitors for serine, cysteine, and aspartic proteases and aminopeptidases

         Enzyme Number (IUBMB): EC 3.4.-.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IDA--
    GO:0005515protein binding IPI--
    GO:0017147Wnt-protein binding IDA--
    GO:0046872metal ion binding IEA--
         
    TRABD2B for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TRABD2B 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TRABD2B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRABD2B 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRABD2B


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TRABD2B

    1 Interacting protein for TRABD2B (A6NFA11) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    Wnt3aP274671EBI-6257471,EBI-2899665
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0008152metabolic process IDA--
    GO:0009405pathogenesis ----
    GO:0016055Wnt receptor signaling pathway IEA--
    GO:0018158protein oxidation IDA--

    TRABD2B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TRABD2B (TIKI2)

    Search CenterWatch for drugs/clinical trials and news about TRABD2B / TIKI2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TRABD2B gene: 
    NM_001194986.1  

    Unigene Cluster for TRABD2B:

    TraB domain containing 2B
    Hs.61504  [show with all ESTs]
    Unigene Representative Sequence: NM_001194986
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371865(uc021ong.1) ENST00000435576
    miRNA
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    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of TRABD2B 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TRABD2B

    Additional mRNA sequence: 

    AK090467.1 JQ653416.1 

    4 DOTS entries:

    DT.209423  DT.452375  DT.97808171  DT.409534 

    20 AceView cDNA sequences:

    AI393670 BQ044942 BX097561 AA400073 AI936385 AW270145 AA401583 AW138156 
    AI762919 AA128517 AA128516 H78374 AA916329 BQ337490 BQ328102 BI763444 
    AA197273 AA205813 AI262958 H78472 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TRABD2B expression in normal human tissues (normalized intensities)      TRABD2B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TRABD2B Expression
    About this image


    TRABD2B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
     
     Kidney (Urinary System)

    See TRABD2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRABD2B

    SOURCE GeneReport for Unigene cluster: Hs.61504
        SABiosciences Custom PCR Arrays for TRABD2B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRABD2B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TRABD2B gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trabd2b5
    Gm128241
    predicted gene 128241, 5 86.21(n)1
    90.49(a)1
      4 (51.84 cM)5
    6660481  NM_001085549.11  NP_001079018.11 
     1144067245 
    chicken
    (Gallus gallus)
    Aves TRABD2B1 TraB domain containing 2B 73.09(n)
    74.75(a)
      424623  XM_422458.3  XP_422458.3 
    lizard
    (Anolis carolinensis)
    Reptilia TRABD2B6
    --
    --
    70(a)
    58(a)
    possible ortholog
    possible ortholog
    GL343249.1(679982-682347)
    GL343249.1(961670-1100681)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5660281 UPF0632 protein A-like 66.25(n)
    65.7(a)
      566028  XM_689293.5  XP_694385.5 
    worm
    (Caenorhabditis elegans)
    Secernentea C05G5.51 Protein C05G5.5 43.25(n)
    34.05(a)
      181571  NM_078050.3  NP_510451.3 


    ENSEMBL Gene Tree for TRABD2B (if available)
    TreeFam Gene Tree for TRABD2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRABD2B gene
    TRABD2A2  
    1 SIMAP similar gene for TRABD2B using alignment to 1 protein entry:     TIKI2_HUMAN:
    TRABD2A

    TRABD2B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4416 SNPs in TRABD2B are shown (see all 4416)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1842665211,2
    --48225845(+) TGATCA/GGGAAG 1 -- ds50010--------
    rs1475225911,2
    C--48225880(+) AAGGC-/AAAAAA 1 -- ds50010--------
    rs1388314921,2
    --48225894(+) AGGGAA/GACTGC 1 -- ds50010--------
    rs44126391,2
    H--48225948(+) AGCTCC/TTTCTC 1 -- ds50014Minor allele frequency- T:0.00NS EA 418
    rs745598651,2
    C--48225955(+) TCTCCA/TCATCG 1 -- ds50010--------
    rs1889990241,2
    C--48226065(+) CTGCCC/TGATTC 1 -- ds50010--------
    rs1818608331,2
    --48226360(+) CATCAG/TGAATA 1 -- ut310--------
    rs1447452901,2
    --48226405(+) ACAGTC/GAATCA 1 -- ut310--------
    rs1481024651,2
    C--48226415(+) AACTCA/GGGGAC 1 -- ut310--------
    rs1873581271,2
    --48226467(+) CCTCTA/GTTCTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TRABD2B (48226200 - 48462567 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TRABD2B: --
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TRABD2B
    DNA2.0 Custom Variant and Variant Library Synthesis for TRABD2B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TRABD2B for disorders           About MalaCards
    OMIM gene information: 614913    OMIM disorders: --


    TRABD2B for disorders           About GeneDecksing


    Export disorders for TRABD2B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TRABD2B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TRABD2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tiki1 is required for head formation via Wnt cleavage- oxidation and inactivation. (PubMed id 22726442)1, 2 Zhang X....He X. (2012)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. A genome-wide search for genetic influences and biolog ical pathways related to the brain's white matter integrity. (PubMed id 22425255)1 Lopez L.M....Deary I.J. (2012)
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    5. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    6. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 388630 HGNC: 44200 AceView: LOC388630 Ensembl:ENSG00000204018 euGenes: HUgn388630
    ECgene: TRABD2B H-InvDB: TRABD2B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TRABD2B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TRABD2B gene:
    Search GeneIP for patents involving TRABD2B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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