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    MZT2A mitotic spindle organizing protein 2A [ Homo sapiens (human) ]

    Gene ID: 653784, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MZT2Aprovided by HGNC
    Official Full Name
    mitotic spindle organizing protein 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:33187
    See related
    Ensembl:ENSG00000173272 MIM:613449; AllianceGenome:HGNC:33187
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM128A; MOZART2A
    Summary
    Located in centrosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 4.8), colon (RPKM 4.6) and 25 other tissues See more
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    Genomic context

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    See MZT2A in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (131469728..131493754, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131904493..131928522, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (132241533..132249970, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NOC2 like nucleolar associated transcriptional repressor pseudogene 2 Neighboring gene ras homolog family member Q pseudogene 2 Neighboring gene tubulin alpha 3d Neighboring gene hESC enhancers GRCh37_chr2:132249301-132250094 and GRCh37_chr2:132250095-132250888 Neighboring gene microRNA 4784 Neighboring gene sphingomyelin phosphodiesterase 4B, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132279157-132279881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16534 Neighboring gene coiled-coil domain containing 74A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132293270-132293826 Neighboring gene mediator complex subunit 15 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The gammaTuRC revisited: a comparative analysis of interphase and mitotic human gammaTuRC redefines the set of core components and identifies the novel subunit GCP8. Teixidó-Travesa N, et al. Mol Biol Cell, 2010 Nov 15. PMID 20861304, Free PMC Article
    2. MZT2A promotes NSCLC viability and invasion by increasing Akt phosphorylation via the MOZART2 domain. Wang H, et al. Cancer Sci, 2021 Jun. PMID 33754417, Free PMC Article
    3. MZT Proteins Form Multi-Faceted Structural Modules in the γ-Tubulin Ring Complex. Wieczorek M, et al. Cell Rep, 2020 Jun 30. PMID 32610146, Free PMC Article
    4. CDK5RAP2 stimulates microtubule nucleation by the gamma-tubulin ring complex. Choi YK, et al. J Cell Biol, 2010 Dec 13. PMID 21135143, Free PMC Article
    5. Expanding the substantial interactome of NEMO using protein microarrays. Fenner BJ, et al. PLoS One, 2010 Jan 20. PMID 20098747, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MZT2A promotes NSCLC viability and invasion by increasing Akt phosphorylation via the MOZART2 domain.
      Title: MZT2A promotes NSCLC viability and invasion by increasing Akt phosphorylation via the MOZART2 domain.
    2. MZT Proteins Form Multi-Faceted Structural Modules in the gamma-Tubulin Ring Complex.
      Title: MZT Proteins Form Multi-Faceted Structural Modules in the γ-Tubulin Ring Complex.
    3. Data show that depletion of GCP8 specifically affects the organization of the interphase microtubule network.
      Title: The gammaTuRC revisited: a comparative analysis of interphase and mitotic human gammaTuRC redefines the set of core components and identifies the novel subunit GCP8.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of gamma-tubulin ring complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    mitotic-spindle organizing protein 2A
    Names
    family with sequence similarity 128, member A
    mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001085365.2 → NP_001078834.1  mitotic-spindle organizing protein 2A

      See identical proteins and their annotated locations for NP_001078834.1

      Status: VALIDATED

      Source sequence(s)
      BM554057, BU682101
      Consensus CDS
      CCDS42758.1
      UniProtKB/Swiss-Prot
      Q3SWV8, Q6P582, Q8WVB2
      UniProtKB/TrEMBL
      A0A494C0V9
      Related
      ENSP00000311500.6, ENST00000309451.7
      Conserved Domains (1) summary
      pfam12926
      Location:9 → 96
      MOZART2; Mitotic-spindle organizing gamma-tubulin ring associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      131469728..131493754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445568.1 → XP_047301524.1  mitotic-spindle organizing protein 2A isoform X1

    2. XM_005263742.4 → XP_005263799.2  mitotic-spindle organizing protein 2A isoform X2

      Related
      ENSP00000403353.1, ENST00000427024.5

    3. XM_047445570.1 → XP_047301526.1  mitotic-spindle organizing protein 2A isoform X4

    4. XM_047445569.1 → XP_047301525.1  mitotic-spindle organizing protein 2A isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      131904493..131928522 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443952.1 → XP_047299908.1  mitotic-spindle organizing protein 2A isoform X1

    2. XM_054343496.1 → XP_054199471.1  mitotic-spindle organizing protein 2A isoform X6

    3. XM_054343495.1 → XP_054199470.1  mitotic-spindle organizing protein 2A isoform X5

    4. XM_054343498.1 → XP_054199473.1  mitotic-spindle organizing protein 2A isoform X8

    5. XM_054343497.1 → XP_054199472.1  mitotic-spindle organizing protein 2A isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P582.2 GenPept UniProtKB/Swiss-Prot:Q6P582

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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