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

MB21D2 Gene

protein-coding   GIFtS: 36
GCID: GC03M192515

Mab-21 domain containing 2

(Previous name: chromosome 3 open reading frame 59 )
(Previous symbol: C3orf59)
  Search for MB21D2
in our new
 Human Malady Compendium 
Biological research products
for MB21D2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MB21D2
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IYB1

  • MB21D2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_848591.2  
    ENSEMBL proteins: 
     ENSP00000376246  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MB21D2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR024803 MB21D2
     IPR024810 Mab-21_dom
     IPR020950 Mab-21-rel

    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MB21D2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Search CenterWatch for drugs/clinical trials and news about MB21D2 / M21D2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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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
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    Additional cDNA sequence: 

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

    1 DOTS entry:

    DT.213796 

    24/81 AceView cDNA sequences (see all 81):

    BQ948224 AA988254 F10449 AK056276 AI149569 CB117293 BC013123 AI423882 
    BQ050771 AW072173 F02312 BP871966 CR604177 AU137765 AA861296 CF264814 
    AA994880 BX106162 BP872465 AA368234 R95134 AK002025 CA774832 BG679242 

    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

    MB21D2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAATTAATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MB21D2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MB21D2

    SOURCE GeneReport for Unigene cluster: Hs.151443
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MB21D2 gene from 4/13 species (see all 13)    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_422716.3  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 73.89(n)
    86.3(a)
      556707  XM_679576.2  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)
    About This Section
    Paralogs for MB21D2 gene
    TMEM1022  

    MB21D2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2426 NCBI SNPs in MB21D2 are shown (see all 2426    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1848849981,2
    C,unknown192595338(+) TTGGCA/C/TACCAG 1 -- int10--------
    rs1495547261,2
    --192514204(+) TGTATA/GTTTCT 1 -- int10--------
    rs1442340251,2
    --192514231(+) TTGGAA/GCGCTG 1 -- int10--------
    rs730602281,2
    C,--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
    --192514719(+) AAGATC/TGCATA 1 -- ut311Minor allele frequency- T:0.00MN 184

    HapMap Linkage Disequilibrium report for MB21D2 (192514604 - 192635950 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MB21D2: --

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
      --

    (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 MB21D2 gene integrated from 9 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. (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. (2002)
    3. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (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. (2010)
    5. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

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

    (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 MB21D2 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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