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MZT2A Gene

protein-coding   GIFtS: 44
GCID: GC02M132333

Mitotic Spindle Organizing Protein 2A

(Previous names: family with sequence similarity 128, member A)
(Previous symbol: FAM128A)
  See related disease
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
Mitotic Spindle Organizing Protein 2A1 2
FAM128A1 2 3 5
Mitotic-Spindle Organizing Protein Associated With A Ring Of Gamma-Tubulin
2A1 2 3
MOZART2A2 3 5
Family With Sequence Similarity 128, Member A1 2
Mitotic-Spindle Organizing Protein 2A2

External Ids:    HGNC: 331871   Entrez Gene: 6537842   Ensembl: ENSG000001732727   OMIM: 6134495   UniProtKB: Q6P5823   

Export aliases for MZT2A gene to outside databases

Previous GC identifers: GC02M132241 GC02M124234 GC02M132257 GC02M132276 GC02M132288 GC02M132312


(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 MZT2A Gene:
MZT2A (mitotic spindle organizing protein 2A) is a protein-coding gene. Diseases associated with MZT2A include microcephaly. An important paralog of this gene is MZT2B.


(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_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MZT2A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MZT2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MZT2A


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

Entrez Gene cytogenetic band: 2q21.1   Ensembl cytogenetic band:  2q21.1   HGNC cytogenetic band: 2q21.1

MZT2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MZT2A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M132333:  view genomic region     (about GC identifiers)

Start:
132,222,473 bp from pter      End:
132,250,316 bp from pter
Size:
27,844 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MZT2A_HUMAN, Q6P582 (See protein sequence)
Recommended Name: Mitotic-spindle organizing protein 2A  
Size: 158 amino acids; 16221 Da
Subunit: Part of the gamma-tubulin complex
Sequence caution: Sequence=AAX93252.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q3SWV8 Q8WVB2

Explore the universe of human proteins at neXtProt for MZT2A: NX_Q6P582

Explore proteomics data for MZT2A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys110
  • Modification sites at PhosphoSitePlus

  • See MZT2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001078834.1  
    ENSEMBL proteins: 
     ENSP00000403353   ENSP00000311500  

    MZT2A Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for MZT2A


    (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:
     IPR024332 MOZART2

    Graphical View of Domain Structure for InterPro Entry Q6P582

    ProtoNet protein and cluster: Q6P582

    UniProtKB/Swiss-Prot: MZT2A_HUMAN, Q6P582
    Similarity: Belongs to the MOZART2 family


    MZT2A 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MZT2A
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    miRNA
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    miRTarBase miRNAs that target MZT2A:
    hsa-mir-324-5p (MIRT043079)

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    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MZT2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MZT2A

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MZT2A


    (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
    MZT2A_HUMAN, Q6P582: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton,
    spindle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2
    mitochondrion2
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome ISS--
    GO:0005819spindle ISS--
    GO:0008274gamma-tubulin ring complex ISS--

    MZT2A 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 MZT2A
    Interactions:

        Search GeneGlobe Interaction Network for MZT2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for MZT2A (Q6P5823 ENSP000003115004) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKGQ9Y6K93, ENSP000003586224I2D: score=1 STRING: ENSP00000358622
    MAPK3P273613I2D: score=1 
    BRCA1ENSP000003502834STRING: ENSP00000350283
    CENPJENSP000003713084STRING: ENSP00000371308
    MZT1ENSP000003670494STRING: ENSP00000367049
    About this table

    (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 MZT2A



    (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,
    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 MZT2A gene: 
    NM_001085365.1  

    Unigene Cluster for MZT2A:

    Mitotic spindle organizing protein 2A
    Hs.655067  [show with all ESTs]
    Unigene Representative Sequence: AK090531
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000427024 ENST00000445782 ENST00000410036 ENST00000309451(uc002tsv.4 uc002tsw.4)
    ENST00000488586 ENST00000491265
    miRNA
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    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat MZT2A
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    GenScript: all cDNA clones in your preferred vector: MZT2A (NM_001085365)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MZT2A
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat MZT2A
      Search QuantiTect SYBR Green Assays in human, mouse, rat MZT2A
      QuantiFast Probe-based Assays in human, mouse, rat MZT2A

    Additional mRNA sequence: 

    AK090531.1 BC018206.1 BC063024.1 BC104650.1 

    22 DOTS entries:

    DT.95357791  DT.100040544  DT.95357792  DT.40285940  DT.95287225  DT.95288728  DT.91882168  DT.100045721 
    DT.40234559  DT.92470739  DT.95148741  DT.97864757  DT.100770995  DT.120980873  DT.120981255  DT.100687923 
    DT.95197752  DT.100812250  DT.120980939  DT.435893  DT.97864761  DT.99987549 

    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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    MZT2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACCTCCTT
    MZT2A Expression
    About this image

    MZT2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MZT2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655067
        Custom PCR Arrays for MZT2A
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MZT2A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MZT2A

    (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 MZT2A gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mzt21 mitotic spindle organizing protein 2 73.76(n)
    69.68(a)
      72083  NM_029354.2  NP_083630.1 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    53(a)
    1 → many
    10(342472-350845) ENSGALG00000002541
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    53(a)
    42(a)
    many ↔ many
    many ↔ many
    GL343782.1(77329-90479)
    GL343669.1(98159-98380)
    zebrafish
    (Danio rerio)
    Actinopterygii mzt2b6
    mitotic spindle organizing protein 2B
    35(a)
    1 → many
    21(14282196-14290948) ENSDARG00000057928


    ENSEMBL Gene Tree for MZT2A (if available)
    TreeFam Gene Tree for MZT2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MZT2A gene
    MZT2B2  
    1 SIMAP similar gene for MZT2A using alignment to 2 protein entries:     MZT2A_HUMAN (see all proteins):
    MZT2B

    MZT2A for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for MZT2A
    PGOHUM00000250320 PGOHUM00000240912


    (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 MZT2A (see all 244)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs569546791,2
    C--124235630(+) AGCAG-/CAGGGACG 1 -- int11Minor allele frequency- CAG:0.00NA 2
    rs1397793661,2
    --132241048(+) GTCAAC/TTGTCT 1 -- ds50010--------
    rs1832224471,2
    --132241115(+) AACCCC/TGTCTC 1 -- ds50010--------
    rs611043161,2
    C,F--132241135(+) TACAAC/TAAAAC 1 -- ds50012Minor allele frequency- T:0.50WA CSA 4
    rs602498231,2
    C--132241162(+) GGCACC/-TGTAG 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1454476001,2
    C--132241205(+) ATGGCA/G/TCGAAC 1 -- ds50010--------
    rs2010506841,2
    --132241309(+) AACAA-/ACAAAAA 1 -- ds50010--------
    rs124750601,2
    C,F,H--132241310(+) ACAAAA/CAAAAA 1 -- ds50014Minor allele frequency- C:0.37NA CSA 11
    rs1995697411,2
    C--132241310(+) ACAAAC/-AAAAA 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1924806131,2
    --132241368(+) AAAGAC/TCTGGC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MZT2A (132222473 - 132250316 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MZT2A (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670824CNV Deletion23128226
    nsv428404CNV Loss18775914
    dgv4312n71CNV Loss21882294
    dgv476n27CNV Loss19166990
    nsv470486CNV Loss18288195
    nsv524021CNV Loss19592680
    nsv459396CNV Gain19166990
    dgv4313n71CNV Gain21882294
    nsv834376CNV Gain17160897
    esv34704CNV Gain17911159

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MZT2A
    DNA2.0 Custom Variant and Variant Library Synthesis for MZT2A

    (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.)
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    OMIM gene information: 613449    OMIM disorders: --

    1 disease for MZT2A:    
    About MalaCards
    microcephaly

    1 disease from the University of Copenhagen DISEASES database for MZT2A:
    Microcephaly

    MZT2A for disorders           About GeneDecksing

    Genetic Association Database (GAD): MZT2A
    Human Genome Epidemiology (HuGE) Navigator: MZT2A (3 documents)

    Export disorders for MZT2A 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 MZT2A gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with MZT2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1, 2, 3 Hutchins J.R.... Peters J.M. (Science 2010)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 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. The gammaTuRC revisited: a comparative analysis of interphase and mitotic human gammaTuRC redefines the set of core components and identifies the novel subunit GCP8. (PubMed id 20861304)1 TeixidA^-Travesa N....LA1ders J. (Mol. Biol. Cell 2010)
    6. CDK5RAP2 stimulates microtubule nucleation by the gamma-tubulin ring complex. (PubMed id 21135143)1 Choi Y.K....Qi R.Z. (J. Cell Biol. 2010)
    7. Expanding the substantial interactome of NEMO using protein microarrays. (PubMed id 20098747)1 Fenner B.J....Prehn J.H. (PLoS ONE 2010)
    8. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    10. 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)

    (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: 653784 HGNC: 33187 Ensembl:ENSG00000173272 euGenes: HUgn653784 ECgene: MZT2A
    H-InvDB: MZT2A

    (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 MZT2A 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 MZT2A gene:
    Search GeneIP for patents involving MZT2A

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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