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TRABD2B Gene

protein-coding   GIFtS: 30
GCID: GC01M048238

TraB Domain Containing 2B

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
TraB Domain Containing 2B1 2     Metalloprotease TIKI22
TIKI22 3 5     UPF0632 Protein A2
Heart, Kidney And Adipose-Enriched Transmembrane Protein Homolog2 3     EC 3.4.-.-3
TRAB Domain-Containing Protein 2B2 3     HKAT3

External Ids:    HGNC: 442001   Entrez Gene: 3886302   Ensembl: ENSG000002691137   OMIM: 6149135   UniProtKB: A6NFA13   

Export aliases for TRABD2B gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TRABD2B Gene:
TRABD2B (TraB domain containing 2B) is a protein-coding gene. Diseases associated with TRABD2B include obesity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TRABD2B
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Glycosylation2 at Asn228, Asn335

  • See TRABD2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001181915.1  
    ENSEMBL proteins: 
     ENSP00000476820  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TIKI2_HUMAN, A6NFA1: Cell membrane; Single-pass type I membrane protein

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    TRABD2B for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TRABD2B
    Interactions:

        Search GeneGlobe Interaction Network 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): Selected biological process terms (see all 6):    About this table

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

    TRABD2B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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:
    ENST00000606738 ENST00000435576
    miRNA
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    Additional mRNA sequence: 

    AK090467.1 JQ653416.1 

    4 DOTS entries:

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

    20 AceView cDNA sequences:

    AI393670 BX097561 BQ044942 AI936385 AW138156 AA401583 AA400073 AW270145 
    AA128517 AA916329 AA128516 BQ337490 AI762919 H78374 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TRABD2B expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
     
     Kidney (Urinary System)
    TRABD2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRABD2B Protein Expression

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

     
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TRABD2B gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trabd2b1 , 5 predicted gene 128245
    TraB domain containing 2B1
    85.75(n)1
    89.92(a)1
      4 (51.84 cM)5
    6660481  NM_001085549.11  NP_001079018.11 
     1144067245 
    chicken
    (Gallus gallus)
    Aves TRABD2B1 TraB domain containing 2B 73.37(n)
    75.41(a)
      424623  XM_422458.4  XP_422458.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    68(a)
    55(a)
    many → 1
    many → 1
    GL343249.1(679982-682347)
    GL343249.1(961670-1100681)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5660281 UPF0632 protein A-like 68.98(n)
    69.05(a)
      566028  NM_001270477.1  NP_001257406.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C05G5.51 C05G5.5 42.84(n)
    33.86(a)
      181571  NM_001270318.1  NP_001257247.1 


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TRABD2B (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: --
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614913    OMIM disorders: --

    1 disease for TRABD2B:    
    About MalaCards
    obesity


    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)
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    PubMed articles for TRABD2B gene integrated from 10 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. (Cell 2012)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity. (PubMed id 22425255)1 Lopez L.M....Deary I.J. (Neurobiol. Aging 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. (PLoS ONE 2012)
    5. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    6. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 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. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 388630 HGNC: 44200 AceView: LOC388630 Ensembl:ENSG00000269113 euGenes: HUgn388630
    ECgene: TRABD2B H-InvDB: TRABD2B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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