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

TRABD2A Gene

protein-coding   GIFtS: 38
GCID: GC02M085049

TraB Domain Containing 2A

(Previous name: chromosome 2 open reading frame 89)
(Previous symbol: C2orf89)
  Search for TRABD2A
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 2A1 2     Chromosome 2 Open Reading Frame 891
C2orf891 2 3     Metalloprotease TIKI12
TIKI12 3     UPF0632 Protein C2orf892
TRAB Domain-Containing Protein 2A2 3     EC 3.4.-.-3

External Ids:    HGNC: 270131   Entrez Gene: 1292932   Ensembl: ENSG000001868547   OMIM: 6149125   UniProtKB: Q86V403   

Export aliases for TRABD2A 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 TRABD2A Gene: 
TRABD2A (TraB domain containing 2A) 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 TRABD2B.

UniProtKB/Swiss-Prot: TIKI1_HUMAN, Q86V40
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_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TRABD2A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TRABD2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRABD2A


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

Entrez Gene cytogenetic band: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

TRABD2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRABD2A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M085049:  view genomic region     (about GC identifiers)

Start:
85,048,774 bp from pter      End:
85,134,132 bp from pter
Size:
85,359 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: TIKI1_HUMAN, Q86V40 (See protein sequence)
Recommended Name: Metalloprotease TIKI1 precursor  
Size: 505 amino acids; 57676 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)
Sequence caution: Sequence=AAH51789.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B4DKK8 I6UMB9
Alternative splicing: 2 isoforms:  Q86V40-1   Q86V40-2   

Explore the universe of human proteins at neXtProt for TRABD2A: NX_Q86V40

Explore proteomics data for TRABD2A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86V40

  • TRABD2A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TRABD2A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001074293.1  NP_001263982.1  

    ENSEMBL proteins: 
     ENSP00000335004   ENSP00000387183   ENSP00000387075  

    Human Recombinant Protein Products for TRABD2A: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    TRABD2A for ontologies           About GeneDecksing



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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 Q86V40

    ProtoNet protein and cluster: Q86V40

    UniProtKB/Swiss-Prot: TIKI1_HUMAN, Q86V40
    Similarity: Belongs to the TIKI family


    TRABD2A 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: TIKI1_HUMAN, Q86V40
    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 Number (IUBMB): EC 3.4.-.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IDA--
    GO:0017147Wnt-protein binding IDA--
    GO:0046872metal ion binding IEA--
         
    TRABD2A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TRABD2A:
     Decreased viability of wild-ty  Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TRABD2A 
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    (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 TRABD2A

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TRABD2A (Q86V403 ENSP000003350044) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    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:0016055Wnt receptor signaling pathway IEA--
    GO:0018158protein oxidation IDA--
    GO:0030178negative regulation of Wnt receptor signaling pathway IDA--

    TRABD2A 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 TRABD2A (TIKI1)

    Search CenterWatch for drugs/clinical trials and news about TRABD2A / TIKI1

    (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 TRABD2A gene (2 alternative transcripts): 
    NM_001080824.2  NM_001277053.1  

    Unigene Cluster for TRABD2A:

    TraB domain containing 2A
    Hs.469134  [show with all ESTs]
    Unigene Representative Sequence: CR936634
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335459(uc002sou.4) ENST00000479944 ENST00000496500 ENST00000495990(uc002sov.3 uc010fgc.2)
    ENST00000409133 ENST00000460991 ENST00000436322 ENST00000474298 ENST00000489999
    ENST00000409520(uc010ysl.2)
    miRNA
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    Additional mRNA sequence: 

    AK128325.1 AK296608.1 AK309615.1 BC049209.1 BC051789.1 BC073808.1 CR936634.1 JQ653415.1 

    10 DOTS entries:

    DT.100691883  DT.442837  DT.210706  DT.86840939  DT.121001488  DT.100679108  DT.100754164  DT.121001471 
    DT.95151540  DT.99926733 

    24/86 AceView cDNA sequences (see all 86):

    AA705414 AA494450 BC073808 AI984132 BF732560 AI762604 AA253471 AI601144 
    AI248446 BM984902 BE303001 H51769 AI200423 AW054893 BC051789 AA703231 
    AW613250 AI074603 AI861979 BE300677 CF126350 AW239056 BC049209 AA699688 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for TRABD2A (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
    SP1:                                -     -     -     -     -     -     -           -     -     -                           
    SP2:                                -     -     -                       -           -     -     -                           
    SP3:                                                                    -           -     -     -                           
    SP4:                                                                    -           -                                       
    SP5:                                                                                -                                       


    ECgene alternative splicing isoforms for TRABD2A

    (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
    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --


    TRABD2A 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
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Blood (Cardiovascular System)
             T Helper Cells Thymus

    See TRABD2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRABD2A

    SOURCE GeneReport for Unigene cluster: Hs.469134
        SABiosciences Custom PCR Arrays for TRABD2A
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TRABD2A gene from 6/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia TRABD2A1 TraB domain containing 2A 86.45(n)
    86.59(a)
      483086  XM_540201.2  XP_540201.2 
    chicken
    (Gallus gallus)
    Aves TRABD2A1 TraB domain containing 2A 70.49(n)
    69.51(a)
      427288  XM_003643049.1  XP_003643097.1 
    lizard
    (Anolis carolinensis)
    Reptilia TRABD2A6
    TraB domain containing 2A
    58(a)
    1 ↔ 1
    GL343339.1(134320-217515)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1377321772   -- 75.88(n)    137732177 
    zebrafish
    (Danio rerio)
    Actinopterygii wu:fc66h011 wu:fc66h01 64.82(n)
    61.06(a)
      564021  XM_687381.5  XP_692473.5 
    worm
    (Caenorhabditis elegans)
    Secernentea C05G5.56
    Metalloprotease TIKI homolog
    25(a)
    1 → many
    X(14756075-14760963)


    ENSEMBL Gene Tree for TRABD2A (if available)
    TreeFam Gene Tree for TRABD2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRABD2A gene
    TRABD2B2  
    1 SIMAP similar gene for TRABD2A using alignment to 2 protein entries:     TIKI1_HUMAN (see all proteins):
    TRABD2B

    TRABD2A 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

    10/1213 SNPs in TRABD2A are shown (see all 1213)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1836720361,2
    --85048331(+) AGACAC/TTGACA 2 -- int1 ds50010--------
    rs114418071,2
    C--85048392(+) ACTTT-/TCTTGC 2 -- int1 ds50010--------
    rs559234081,2
    C,F--85048512(+) ACAGGG/AAGCAC 2 -- int1 ds50012Minor allele frequency- A:0.03WA 120
    rs599221711,2
    F--85048756(+) TATATA/GTATCA 2 -- int1 ds50011Minor allele frequency- G:0.02WA 118
    rs130236151,2
    H--85048798(+) ATTTTC/TATACA 2 -- ut314Minor allele frequency- T:0.00NS EA 420
    rs130002691,2
    C,H--85048841(+) TATGTT/CACAAA 2 -- ut31 ese34Minor allele frequency- C:0.00NS EA 418
    rs130242011,2
    C,H--85048935(+) GAGCAG/CTCTCT 2 -- ut31 ese34Minor allele frequency- C:0.00NS EA 418
    rs1885464761,2
    --85048982(+) GAGTAC/TAGGAA 2 -- ut310--------
    rs2008374261,2
    C--85049005(+) AAGTCC/TGAGGG 2 -- ut310--------
    rs1998687381,2
    C--85049153(+) GCCCAC/TGGCGA 4 H R mis10--------

    HapMap Linkage Disequilibrium report for TRABD2A (85048774 - 85134132 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TRABD2A: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TRABD2A
    DNA2.0 Custom Variant and Variant Library Synthesis for TRABD2A

    (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

    TRABD2A for disorders           About MalaCards
    OMIM gene information: 614912    OMIM disorders: --


    TRABD2A for disorders           About GeneDecksing


    Export disorders for TRABD2A 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 TRABD2A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TRABD2A)
        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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. 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)
    4. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 129293 HGNC: 27013 AceView: LOC129293 Ensembl:ENSG00000186854 euGenes: HUgn129293
    ECgene: TRABD2A H-InvDB: TRABD2A

    (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 TRABD2A 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 TRABD2A gene:
    Search GeneIP for patents involving TRABD2A

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



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