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MB21D2 Gene

protein-coding   GIFtS: 41
GCID: GC03M192515

Mab-21 Domain Containing 2

(Previous name: chromosome 3 open reading frame 59)
(Previous symbol: C3orf59)
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(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
Mab-21 Domain Containing 21 2
C3orf591 2 3
Mab-21 Domain-Containing Protein 22 3
Chromosome 3 Open Reading Frame 591
Protein MB21D22

External Ids:    HGNC: 304381   Entrez Gene: 1519632   Ensembl: ENSG000001806117   UniProtKB: Q8IYB13   

Export aliases for MB21D2 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 MB21D2 Gene:
MB21D2 (Mab-21 domain containing 2) is a protein-coding gene. An important paralog of this gene is TMEM102.


(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 at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MB21D2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MB21D2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MB21D2


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

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q28-q29

MB21D2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MB21D2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M192515:  view genomic region     (about GC identifiers)

Start:
192,514,604 bp from pter      End:
192,635,950 bp from pter
Size:
121,347 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: M21D2_HUMAN, Q8IYB1 (See protein sequence)
Recommended Name: Protein MB21D2  
Size: 491 amino acids; 55800 Da
Sequence caution: Sequence=AAH13123.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH45582.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q86VD8

Explore the universe of human proteins at neXtProt for MB21D2: NX_Q8IYB1

Explore proteomics data for MB21D2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MB21D2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_848591.2  
    ENSEMBL proteins: 
     ENSP00000376246  

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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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    2 InterPro protein domains:
     IPR024803 MB21D2
     IPR024810 Mab-21_dom

    Graphical View of Domain Structure for InterPro Entry Q8IYB1

    ProtoNet protein and cluster: Q8IYB1

    UniProtKB/Swiss-Prot: M21D2_HUMAN, Q8IYB1
    Similarity: Belongs to the mab-21 family


    Find genes that share domains with MB21D2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032403protein complex binding IDA--
         
    Find genes that share ontologies with MB21D2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MB21D2

    miRNA
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    miRTarBase miRNAs that target MB21D2:
    hsa-mir-484 (MIRT042369), hsa-mir-19b-3p (MIRT031178), hsa-mir-130b-3p (MIRT020219)

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    Selected qRT-PCR Assays for microRNAs that regulate MB21D2 (see all 49):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-607 hsa-miR-379* hsa-miR-301a hsa-miR-4275 hsa-miR-4267 hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidMB21D2 3' UTR sequence
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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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    (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 MB21D2
    Interactions:

        Search GeneGlobe Interaction Network for MB21D2

    (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 MB21D2 (M21D2)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MB21D2 gene: 
    NM_178496.3  

    Unigene Cluster for MB21D2:

    Mab-21 domain containing 2
    Hs.151443  [show with all ESTs]
    Unigene Representative Sequence: NM_178496
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000392452(uc011bsp.2)
    miRNA
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    hsa-miR-411* hsa-miR-323-3p hsa-miR-607 hsa-miR-379* hsa-miR-301a hsa-miR-4275 hsa-miR-4267 hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidMB21D2 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat MB21D2

    Additional mRNA sequence: 

    AK002025.1 AK056276.1 AK290447.1 BC013123.1 BC036194.1 BC045582.1 BX648517.1 

    1 DOTS entry:

    DT.213796 

    Selected AceView cDNA sequences (see all 81):

    AU137765 CB117293 AI149569 AK056276 AI423882 BP871966 AA988254 F02312 
    BC013123 AA994880 AA861296 BQ948224 CR604177 AA368234 BX106162 BP872465 
    BQ050771 AW072173 F10449 CF264814 R95133 BQ899309 BC036194 CB995908 

    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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    MB21D2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATTAATG
    MB21D2 Expression
    About this image


    MB21D2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    MB21D2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MB21D2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.151443
        Custom PCR Arrays for MB21D2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MB21D2

    (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 MB21D2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mb21d21 , 5 RIKEN cDNA 1600021P15 gene5
    Mab-21 domain containing 21
    89.61(n)1
    98.57(a)1
      16 (19.71 cM)5
    2397961  NM_177718.31  NP_808386.21 
     288261765 
    chicken
    (Gallus gallus)
    Aves MB21D21 Mab-21 domain containing 2 83.91(n)
    97.96(a)
      424905  XM_422716.4  XP_422716.2 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.160292 Transcribed sequences 77.94(n)    BX754579.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mb21d21 Mab-21 domain containing 2 73.76(n)
    86.09(a)
      556707  XM_679576.3  XP_684668.2 


    ENSEMBL Gene Tree for MB21D2 (if available)
    TreeFam Gene Tree for MB21D2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MB21D2 gene
    TMEM1022  

    Find genes that share paralogs with MB21D2           About GenesLikeMe



    (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 MB21D2 (see all 2832)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1848849981,2
    Cuntested1192595338(+) TTGGCA/C/TACCAG 1 -- int10--------
    rs1495547261,2
    --192514204(+) TGTATA/GTTTCT 1 -- int10--------
    rs1442340251,2
    --192514231(+) TTGGAA/GCGCTG 1 -- int10--------
    rs730602281,2
    C,F--192514253(+) GACTGG/CAGCGG 1 -- int13Minor allele frequency- C:0.08CSA WA NA 240
    rs1887028841,2
    --192514261(+) CGGCTA/TACATT 1 -- int10--------
    rs1487322591,2
    --192514316(+) GATCAA/GCTTTT 1 -- int10--------
    rs1814364771,2
    --192514422(+) AAGAGA/GAAGAC 1 -- int10--------
    rs359128601,2
    C,F,H--192514503(+) GAAAAT/CTGCTG 1 -- int12Minor allele frequency- C:0.01NS NA 288
    rs783702991,2
    C,F--192514517(+) GTATAA/CTACTA 1 -- int12Minor allele frequency- C:0.08NA EA 240
    rs146971,2
    C,F--192514719(+) AAGATC/TGCATA 1 -- ut311Minor allele frequency- T:0.00MN 184

    HapMap Linkage Disequilibrium report for MB21D2 (192514604 - 192635950 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for MB21D2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662415CNV Deletion23128226
    esv997039CNV Deletion20482838
    esv2674918CNV Deletion23128226
    nsv437906CNV Loss16468122
    dgv308n21CNV Loss19592680
    dgv847n67CNV Loss20364138
    nsv878122CNV Gain21882294
    nsv461124CNV Gain19166990
    nsv471138CNV Gain18288195

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for MB21D2

    (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 MB21D2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with MB21D2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    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. 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)
    5. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 151963 HGNC: 30438 AceView: LOC151963 Ensembl:ENSG00000180611 euGenes: HUgn151963
    ECgene: MB21D2 H-InvDB: MB21D2

    (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 MB21D2 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 MB21D2 gene:
    Search GeneIP for patents involving MB21D2

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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