Aliases for MZT2A Gene

Aliases for MZT2A Gene

  • Mitotic Spindle Organizing Protein 2A 2 3 5
  • Mitotic-Spindle Organizing Protein Associated With A Ring Of Gamma-Tubulin 2A 2 3 4
  • MOZART2A 2 3 4
  • Family With Sequence Similarity 128, Member A 2 3
  • Mitotic-Spindle Organizing Protein 2A 3 4
  • FAM128A 3 4
  • MZT2A 5

External Ids for MZT2A Gene

Previous HGNC Symbols for MZT2A Gene

  • FAM128A

Previous GeneCards Identifiers for MZT2A Gene

  • GC02M132241
  • GC02M124234
  • GC02M132257
  • GC02M132276
  • GC02M132288
  • GC02M132312
  • GC02M132333

Summaries for MZT2A Gene

GeneCards Summary for MZT2A Gene

MZT2A (Mitotic Spindle Organizing Protein 2A) is a Protein Coding gene. Diseases associated with MZT2A include Keratoconus 9 and Keratoconus. An important paralog of this gene is MZT2B.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MZT2A Gene

Genomics for MZT2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MZT2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J131490 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 283.6 +0.1 79 4.8 SP1 ZNF207 NCOR1 MYC ZNF580 ZNF592 ATF2 ZNF223 ZNF10 BRCA1 SMPD4BP MZT2A HSALNG0018894 MIR4784 lnc-RAB6D-1 lnc-TUBA3D-1 ENSG00000272769 TUBA3D
GH02J131527 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 19.5 -35.3 -35321 2.4 HES1 ZNF341 ELF1 KLF9 SP2 SAP130 GABPB1 SIN3A ZNF146 SKIL HSALNG0018898 piR-54904-002 CCDC74A SMPD4BP MZT2A HSALNG0018900 ANKRD30BL
GH02J131488 Enhancer 0.5 dbSUPER 34 +4.3 4258 1.1 REST KLF9 EGR1 ZBTB33 EGR2 POLR2A MZT2A HSALNG0018894 MIR4784 lnc-RAB6D-1 TUBA3D
GH02J131476 Promoter 0.5 EPDnew 29.5 +17.0 16980 0.1 ZBTB33 USF1 TUBA3D MZT2A lnc-RAB6D-3 RAB6D
GH02J131471 Enhancer 0.5 Ensembl 24.5 +21.3 21251 0.7 NFIC ZIC2 ZNF316 ATF1 ZNF423 NR2F1 ZBTB44 lnc-RAB6D-3 MZT2A TUBA3D lnc-MZT2A-1 RAB6D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MZT2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MZT2A

Genomic Locations for MZT2A Gene

Latest Assembly
chr2:131,464,900-131,493,080
(GRCh38/hg38)
Size:
28,181 bases
Orientation:
Minus strand

Previous Assembly
chr2:132,241,533-132,249,970
(GRCh37/hg19 by Entrez Gene)
Size:
8,438 bases
Orientation:
Minus strand

chr2:132,222,473-132,250,316
(GRCh37/hg19 by Ensembl)
Size:
27,844 bases
Orientation:
Minus strand

Genomic View for MZT2A Gene

Genes around MZT2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MZT2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MZT2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MZT2A Gene

Proteins for MZT2A Gene

  • Protein details for MZT2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P582-MZT2A_HUMAN
    Recommended name:
    Mitotic-spindle organizing protein 2A
    Protein Accession:
    Q6P582
    Secondary Accessions:
    • Q3SWV8
    • Q8WVB2

    Protein attributes for MZT2A Gene

    Size:
    158 amino acids
    Molecular mass:
    16221 Da
    Quaternary structure:
    • Part of the gamma-tubulin complex.
    SequenceCaution:
    • Sequence=AAX93252.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MZT2A Gene

neXtProt entry for MZT2A Gene

Post-translational modifications for MZT2A Gene

  • Ubiquitination at Lys110
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MZT2A Gene

Domains & Families for MZT2A Gene

Gene Families for MZT2A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MZT2A Gene

InterPro:

Suggested Antigen Peptide Sequences for MZT2A Gene

GenScript: Design optimal peptide antigens:
  • Mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A (MZT2A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P582

UniProtKB/Swiss-Prot:

MZT2A_HUMAN :
  • Belongs to the MOZART2 family.
Family:
  • Belongs to the MOZART2 family.
genes like me logo Genes that share domains with MZT2A: view

Function for MZT2A Gene

Gene Ontology (GO) - Molecular Function for MZT2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32814053
genes like me logo Genes that share ontologies with MZT2A: view
genes like me logo Genes that share phenotypes with MZT2A: view

miRNA for MZT2A Gene

miRTarBase miRNAs that target MZT2A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MZT2A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MZT2A Gene

Localization for MZT2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MZT2A Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MZT2A gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MZT2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IBA,ISS --
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IBA,ISS --
genes like me logo Genes that share ontologies with MZT2A: view

Pathways & Interactions for MZT2A Gene

PathCards logo

SuperPathways for MZT2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for MZT2A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MZT2A Gene

Drugs & Compounds for MZT2A Gene

No Compound Related Data Available

Transcripts for MZT2A Gene

mRNA/cDNA for MZT2A Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MZT2A

Alternative Splicing Database (ASD) splice patterns (SP) for MZT2A Gene

No ASD Table

Relevant External Links for MZT2A Gene

GeneLoc Exon Structure for
MZT2A

Expression for MZT2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MZT2A Gene

Protein differential expression in normal tissues from HIPED for MZT2A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (54.0) and Fetal ovary (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MZT2A Gene



Protein tissue co-expression partners for MZT2A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MZT2A

SOURCE GeneReport for Unigene cluster for MZT2A Gene:

Hs.655067

Evidence on tissue expression from TISSUES for MZT2A Gene

  • Pancreas(4.3)
  • Heart(2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with MZT2A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MZT2A Gene

Orthologs for MZT2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for MZT2A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MZT2B 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 91 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia MZT2 30
  • 79 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Mzt2b 29
  • 74.57 (n)
Mouse
(Mus musculus)
Mammalia Mzt2 29 16 30
  • 73.76 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 67 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 53 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 53 (a)
ManyToMany
-- 30
  • 42 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii mzt2b 30
  • 35 (a)
OneToMany
Species where no ortholog for MZT2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MZT2A Gene

ENSEMBL:
Gene Tree for MZT2A (if available)
TreeFam:
Gene Tree for MZT2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MZT2A: view image
Alliance of Genome Resources:
Additional Orthologs for MZT2A

Paralogs for MZT2A Gene

Paralogs for MZT2A Gene

(1) SIMAP similar genes for MZT2A Gene using alignment to 2 proteins:

  • MZT2A_HUMAN
  • H7C202_HUMAN

Pseudogenes.org Pseudogenes for MZT2A Gene

genes like me logo Genes that share paralogs with MZT2A: view

Variants for MZT2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MZT2A Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs139782017 Benign: not provided 131,482,617(-) C/T
NM_080386.4(TUBA3D):c.1122C>T (p.Ala374=)
SYNONYMOUS
rs147030351 Likely Benign: not provided 131,482,759(-) C/T
NM_080386.4(TUBA3D):c.1264C>T (p.Arg422Cys)
MISSENSE
rs148497877 Benign: not provided 131,479,422(-) T/A
NM_080386.4(TUBA3D):c.341T>A (p.Ile114Asn)
MISSENSE
rs1553500862 Pathogenic: Keratoconus 9 131,478,191(-) C/T
NM_080386.4(TUBA3D):c.31C>T (p.Gln11Ter)
NONSENSE
rs2695519 Likely Benign: not provided 131,478,155(-) T/G
NM_080386.4(TUBA3D):c.4-9T>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MZT2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MZT2A Gene

Variant ID Type Subtype PubMed ID
dgv4075n100 CNV gain 25217958
dgv4077n100 CNV gain 25217958
dgv4079n100 CNV loss 25217958
dgv4080n100 CNV gain 25217958
dgv476n27 CNV loss 19166990
esv2670824 CNV deletion 23128226
esv2759092 CNV gain+loss 17122850
esv2760576 CNV gain+loss 21179565
esv34412 CNV gain 17911159
esv34704 CNV gain 17911159
esv3575300 CNV gain 25503493
esv3584079 CNV loss 25503493
esv3592483 CNV loss 21293372
esv3592484 CNV gain 21293372
esv3893359 CNV gain+loss 25118596
nsv1002963 CNV gain 25217958
nsv1006738 CNV gain 25217958
nsv1008539 CNV gain 25217958
nsv1014682 CNV loss 25217958
nsv428404 CNV loss 18775914
nsv459396 CNV gain 19166990
nsv470486 CNV loss 18288195
nsv524021 CNV loss 19592680
nsv583140 CNV gain 21841781
nsv583143 CNV gain+loss 21841781
nsv583145 CNV loss 21841781
nsv7327 OTHER inversion 18451855
nsv834376 CNV gain 17160897
nsv979124 CNV duplication 23825009
nsv997248 CNV loss 25217958

Variation tolerance for MZT2A Gene

Gene Damage Index Score: 7.64; 82.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MZT2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MZT2A
Leiden Open Variation Database (LOVD)
MZT2A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MZT2A Gene

Disorders for MZT2A Gene

MalaCards: The human disease database

(2) MalaCards diseases for MZT2A Gene - From: CVR and GCD

Disorder Aliases PubMed IDs
keratoconus 9
  • ktcn9
keratoconus
  • conical cornea
- elite association - COSMIC cancer census association via MalaCards
Search MZT2A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MZT2A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MZT2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MZT2A Gene

Publications for MZT2A Gene

  1. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PMID: 20360068) Hutchins JR … Peters JM (Science (New York, N.Y.) 2010) 2 3 4
  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. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  3. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. De novo mutations of TUBA3D are associated with keratoconus. (PMID: 29051577) Hao XD … Gao H (Scientific reports 2017) 72

Products for MZT2A Gene

Sources for MZT2A Gene