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MBLAC2 Gene

protein-coding   GIFtS: 40
GCID: GC05M089790

Metallo-Beta-Lactamase Domain Containing 2

  Search for MBLAC2
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
Metallo-Beta-Lactamase Domain Containing 21 2
Metallo-Beta-Lactamase Domain-Containing Protein 22
EC 3.-.-.-3

External Ids:    HGNC: 337111   Entrez Gene: 1533642   Ensembl: ENSG000001760557   UniProtKB: Q68D913   

Export aliases for MBLAC2 gene to outside databases

Previous GC identifer: GC05M084964


(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 MBLAC2 Gene:
MBLAC2 (metallo-beta-lactamase domain containing 2) is a protein-coding gene. GO annotations related to this gene include hydrolase activity.


(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_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the MBLAC2 gene promoter:
         Egr-3   Max1   AML1a   Pax-2a   LCR-F1   Arnt   MEF-2A   Nkx6-1   aMEF-2   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MBLAC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBLAC2


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

Entrez Gene cytogenetic band: 5q14.3   Ensembl cytogenetic band:  5q14.3   HGNC cytogenetic band: 5q14.3

MBLAC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBLAC2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M089790:  view genomic region     (about GC identifiers)

Start:
89,754,020 bp from pter      End:
89,770,585 bp from pter
Size:
16,566 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: MBLC2_HUMAN, Q68D91 (See protein sequence)
Recommended Name: Metallo-beta-lactamase domain-containing protein 2  
Size: 279 amino acids; 31372 Da
Cofactor: Binds 2 zinc ions per subunit (By similarity)
Secondary accessions: D6RJI1 Q8IY16 Q8N8D8
Alternative splicing: 2 isoforms:  Q68D91-1   Q68D91-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MBLAC2: NX_Q68D91

Explore proteomics data for MBLAC2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys10, Lys226, Lys256
  • Modification sites at PhosphoSitePlus

  • See MBLAC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_981951.1  
    ENSEMBL proteins: 
     ENSP00000314776   ENSP00000425600  

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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:
     IPR001279 Beta-lactamas-like

    Graphical View of Domain Structure for InterPro Entry Q68D91

    ProtoNet protein and cluster: Q68D91

    UniProtKB/Swiss-Prot: MBLC2_HUMAN, Q68D91
    Similarity: Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family


    MBLAC2 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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         Enzyme Number (IUBMB): EC 3.-.-.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0016787hydrolase activity IEA--
    GO:0046872metal ion binding IEA--
         
    MBLAC2 for ontologies           About GeneDecksing


    Animal Models:
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    miRTarBase miRNAs that target MBLAC2:
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    Selected qRT-PCR Assays for microRNAs that regulate MBLAC2 (see all 74):
    hsa-miR-124* hsa-miR-549 hsa-miR-548j hsa-miR-607 hsa-miR-374a hsa-miR-550a* hsa-miR-4275 hsa-miR-4325
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070062extracellular vesicular exosome IDA--

    MBLAC2 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 MBLAC2
    Interactions:

        Search GeneGlobe Interaction Network for MBLAC2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for MBLAC2 (ENSP000003147764) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LEO1ENSP000002996014STRING: ENSP00000299601
    PAF1ENSP000002212654STRING: ENSP00000221265
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    MBLAC2 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 MBLAC2 (MBLC2)



    (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 MBLAC2 gene: 
    NM_203406.1  

    Unigene Cluster for MBLAC2:

    Metallo-beta-lactamase domain containing 2
    Hs.64004  [show with all ESTs]
    Unigene Representative Sequence: CR749512
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316610(uc003kjp.3) ENST00000514906
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MBLAC2 (see all 74):
    hsa-miR-124* hsa-miR-549 hsa-miR-548j hsa-miR-607 hsa-miR-374a hsa-miR-550a* hsa-miR-4275 hsa-miR-4325
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat MBLAC2

    Additional mRNA sequence: 

    AK096942.1 AK128603.1 AK289778.1 BC038230.1 CR749512.1 

    3 DOTS entries:

    DT.86851692  DT.309483  DT.99930772 

    Selected AceView cDNA sequences (see all 45):

    BX403311 BM556891 CR594652 BM471871 BC038230 AK128603 BM458660 BE348281 
    CB988719 NM_203406 CR620210 BX503744 AW505226 BX498018 AV717674 BX509474 
    CB123967 BX503743 BG430014 BM925618 BF431952 BG195618 BF437774 AK096942 

    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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    MBLAC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCAATTGT
    MBLAC2 Expression
    About this image

    MBLAC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MBLAC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.64004
        Custom PCR Arrays for MBLAC2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBLAC2

    (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 chordates.

    Orthologs for MBLAC2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mblac21 , 5 metallo-beta-lactamase domain containing 21, 5 91.76(n)1
    97.13(a)1
      13 (43.68 cM)5
    728521  NM_028372.11  NP_082648.11 
     817114175 
    chicken
    (Gallus gallus)
    Aves MBLAC21 metallo-beta-lactamase domain containing 2 77.21(n)
    78.18(a)
      431565  NM_001031608.1  NP_001026779.1 
    lizard
    (Anolis carolinensis)
    Reptilia MBLAC26
    metallo-beta-lactamase domain containing 2
    84(a)
    1 ↔ 1
    2(22938238-22938621)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mblac21 metallo-beta-lactamase domain containing 2 75.88(n)
    80.73(a)
      100490709  XM_002933933.2  XP_002933979.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mblac21 metallo-beta-lactamase domain containing 2 66.54(n)
    73.99(a)
      563823  NM_001123267.1  NP_001116739.1 


    ENSEMBL Gene Tree for MBLAC2 (if available)
    TreeFam Gene Tree for MBLAC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MBLAC2 gene

    MBLAC2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MBLAC2
    PGOHUM00000234928


    (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 MBLAC2 (see all 312)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs783845551,2
    C,F--84964351(+) TACATG/ATGTGG 1 -- int11Minor allele frequency- A:0.07WA 118
    rs1432117501,2
    --84964658(+) AATATA/CAATTA 1 -- int10--------
    rs1482712941,2
    --84964661(+) ATCAAC/TTATAG 1 -- int10--------
    rs20332611,2
    C,F,H--84964750(-) AATGTG/AACATG 1 -- ut31 ese34Minor allele frequency- A:0.01EA NS NA 340
    rs1414334641,2
    --84964807(+) AGGATA/GACACA 1 -- ut310--------
    rs1833990761,2
    --84964888(+) ATTAAA/GTATTA 1 -- ut310--------
    rs1508190021,2
    C--84964979(+) AAAATC/TATTTA 1 -- ut310--------
    rs1882336881,2
    --84965313(+) CCTTAC/TTTATT 1 -- ut310--------
    rs133614681,2
    C,F,H--84965436(+) ATAAAT/CAAATC 1 -- ut3110Minor allele frequency- C:0.09NS EA NA WA 1306
    rs757479231,2
    C,F--84965631(+) GAACCA/CAATCA 1 -- ut311Minor allele frequency- C:0.06WA 118

    HapMap Linkage Disequilibrium report for MBLAC2 (89754020 - 89770585 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MBLAC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518131CNV Loss19592680
    nsv882364CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MBLAC2
    DNA2.0 Custom Variant and Variant Library Synthesis for MBLAC2

    (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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      --

    (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 MBLAC2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with MBLAC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    5. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. 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. (Genome Res. 2004)
    8. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 153364 HGNC: 33711 AceView: LOC153364 Ensembl:ENSG00000176055 euGenes: HUgn153364
    ECgene: MBLAC2 H-InvDB: MBLAC2

    (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 MBLAC2 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 MBLAC2 gene:
    Search GeneIP for patents involving MBLAC2

    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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