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MAB21L2 Gene

protein-coding   GIFtS: 45
GCID: GC04P151503

Mab-21-Like 2 (C. Elegans)

(Previous name: mab-21 (C. elegans)-like 2)
  See related diseases
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
Mab-21-Like 2 (C. Elegans)1 2
Mab-21 (C. Elegans)-Like 21
Protein Mab-21-Like 22

External Ids:    HGNC: 67581   Entrez Gene: 105862   Ensembl: ENSG000001815417   OMIM: 6043575   UniProtKB: Q9Y5863   

Export aliases for MAB21L2 gene to outside databases

Previous GC identifers: GC04P152311 GC04P151890 GC04P152080 GC04P151860 GC04P151722 GC04P147228


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MAB21L2 Gene:
This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming
growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein
encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. (provided by
RefSeq, Jul 2008)

GeneCards Summary for MAB21L2 Gene:
MAB21L2 (mab-21-like 2 (C. elegans)) is a protein-coding gene. Diseases associated with MAB21L2 include microphthalmia, and malaria. An important paralog of this gene is MAB21L3.

UniProtKB/Swiss-Prot: MB212_HUMAN, Q9Y586
Function: Required for several aspects of embryonic development including normal development of the eye (By
similarity)




(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_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAB21L2 gene promoter:
         E2F-4   E2F-3a   E2F-5   Nkx2-5   CUTL1   E2F-2   FOXL1   Egr-2   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAB21L2 promoter sequence
   Search Chromatin IP Primers for MAB21L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAB21L2


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

Entrez Gene cytogenetic band: 4q31   Ensembl cytogenetic band:  4q31.3   HGNC cytogenetic band: 4q31.3

MAB21L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAB21L2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P151503:  view genomic region     (about GC identifiers)

Start:
151,503,077 bp from pter      End:
151,505,845 bp from pter
Size:
2,769 bases      Orientation:
plus 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: MB212_HUMAN, Q9Y586 (See protein sequence)
Recommended Name: Protein mab-21-like 2  
Size: 359 amino acids; 40923 Da
Secondary accessions: B3KP37 Q9HBA7

Explore the universe of human proteins at neXtProt for MAB21L2: NX_Q9Y586

Explore proteomics data for MAB21L2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MAB21L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006430.1  
    ENSEMBL proteins: 
     ENSP00000324701  

    MAB21L2 Human Recombinant Protein Products:

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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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    3 InterPro protein domains:
     IPR000772 Ricin_B_lectin
     IPR024801 Mab21L
     IPR024810 Mab-21_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y586

    ProtoNet protein and cluster: Q9Y586

    1 Blocks protein domain: IPB000772 Ricin B lectin domain

    UniProtKB/Swiss-Prot: MB212_HUMAN, Q9Y586
    Similarity: Belongs to the mab-21 family


    MAB21L2 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: MB212_HUMAN, Q9Y586
    Function: Required for several aspects of embryonic development including normal development of the eye (By
    similarity)

         Genatlas biochemistry entry for MAB21L2:
    mab-21 (C elegans)-like 2,member of a family of genes,involved in vertebrate neural development

    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mab21l2):
     cardiovascular system  growth/size/body  mortality/aging  pigmentation  vision/eye 

    MAB21L2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mab21l2tm1Nao for MAB21L2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAB21L2
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    miRNA
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    Block miRNA regulation of human, mouse, rat MAB21L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAB21L2 (see all 28):
    hsa-miR-548j hsa-miR-4311 hsa-miR-548i hsa-miR-181c hsa-miR-1271 hsa-miR-3200-3p hsa-miR-548d-5p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidMAB21L2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MAB21L2

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    GenScript: all cDNA clones in your preferred vector: MAB21L2 (NM_006439)
    Sino Biological Human cDNA Clone for MAB21L2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAB21L2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAB21L2


    (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
    MB212_HUMAN, Q9Y586: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    MAB21L2 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 MAB21L2
    Interactions:

        Search GeneGlobe Interaction Network for MAB21L2

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development TAS10556287
    GO:0008284positive regulation of cell proliferation IEA--
    GO:0010172embryonic body morphogenesis IEA--
    GO:0043010camera-type eye development IEA--
    GO:0048568embryonic organ development ----

    MAB21L2 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 MAB21L2 (MB212)



    (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 MAB21L2 gene: 
    NM_006439.4  

    Unigene Cluster for MAB21L2:

    Mab-21-like 2 (C. elegans)
    Hs.584852  [show with all ESTs]
    Unigene Representative Sequence: NM_006439
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000317605(uc003ilw.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat MAB21L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAB21L2 (see all 28):
    hsa-miR-548j hsa-miR-4311 hsa-miR-548i hsa-miR-181c hsa-miR-1271 hsa-miR-3200-3p hsa-miR-548d-5p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidMAB21L2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MAB21L2
    Predesigned siRNA for gene silencing in human, mouse, rat MAB21L2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAB21L2
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    OriGene qPCR primer pairs and template standards for MAB21L2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAB21L2
      QuantiTect SYBR Green Assays in human, mouse, rat MAB21L2
      QuantiFast Probe-based Assays in human, mouse, rat MAB21L2

    Additional mRNA sequence: 

    AF262032.1 AF370007.1 AK055665.1 BC009983.2 

    3 DOTS entries:

    DT.40225367  DT.100646301  DT.95350475 

    Selected AceView cDNA sequences (see all 37):

    NM_006439 CR620783 BC009983 BF314563 AA679158 AF370007 CB857031 BX645470 
    AF262032 BX348661 BX493567 AL515813 AL522676 AL515812 BX283081 AL702293 
    BI195867 BM728642 AK055665 CA395355 BE260646 BI481050 AL522675 BP346235 

    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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    MAB21L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGACGCTGC
    MAB21L2 Expression
    About this image


    MAB21L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Maxillary Process
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Rhombencephalon
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Early Retinal Progenitor Cells Retinal Neuroblastic Layer
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Neural rosettes
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
    MAB21L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAB21L2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.584852
        Custom PCR Arrays for MAB21L2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAB21L2

    (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 MAB21L2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mab21l21 , 5 mab-21-like 2 (C. elegans)1, 5 92.39(n)1
    99.72(a)1
      3 (37.86 cM)5
    239371  NM_011839.31  NP_035969.21 
     865455815 
    chicken
    (Gallus gallus)
    Aves MAB21L26
    Gallus gallus mab-21-like 2 (C. elegans) (MAB21L2)...
    100(a)
    1 ↔ 1
    4(32453927-32455006)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mab21l21 mab-21-like 2 83.66(n)
    97.49(a)
      100125071  NM_001102985.1  NP_001096455.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mab21l21 mab-21-like 2 82.27(n)
    96.94(a)
      117234  NM_152975.2  NP_694507.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH114153
    CG47661
    CG47661 73(a)3
    68.9(n)1
    74.37(a)1
      315331  NM_132059.21  NP_572287.11 


    ENSEMBL Gene Tree for MAB21L2 (if available)
    TreeFam Gene Tree for MAB21L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAB21L2 gene
    MAB21L32  MAB21L12  
    1 SIMAP similar gene for MAB21L2 using alignment to 1 protein entry:     MB212_HUMAN:
    MAB21L1

    MAB21L2 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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    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MAB21L2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4547CNV Loss18451855
    nsv880256CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAB21L2
    DNA2.0 Custom Variant and Variant Library Synthesis for MAB21L2

    (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: 604357    OMIM disorders: --

    3 diseases for MAB21L2:    
    About MalaCards
    microphthalmia    malaria    retinitis


    MAB21L2 for disorders           About GeneDecksing


    Export disorders for MAB21L2 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 MAB21L2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with MAB21L2)
        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. Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development. (PubMed id 10556287)1, 2 Mariani M.... Consalez G.G. (Hum. Mol. Genet. 1999)
    3. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    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. (Genome Res. 2004)
    7. 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)
    8. Genomic cloning and chromosomal localization of the mouse Mab21l2 locus. (PubMed id 10516425)9 Wong R.L....Chow K.L. (Cytogenet. Cell Genet. 1999)
    9. MAB21L2, a vertebrate member of the Male-abnormal 21 family, modulates BMP signaling and interacts with SMAD1. (PubMed id 15613244)9 Baldessari D....Consalez G.G. (BMC Cell Biol. 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: 10586 HGNC: 6758 AceView: MAB21L2 Ensembl:ENSG00000181541 euGenes: HUgn10586
    ECgene: MAB21L2 H-InvDB: MAB21L2

    (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 MAB21L2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAB21L2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAB21L2 gene:
    Search GeneIP for patents involving MAB21L2

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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