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FLASH GENE
Symbol TUBA8 contributors: mct/npt - updated : 03-12-2009
HGNC name tubulin, alpha 8
HGNC id 12410
Corresponding disease
PMGOH polymicrogyria with optic nerve hypoplasia
Location 22q11.21      Physical location : 18.593.452 - 18.614.498
Synonym name
  • tubulin, alpha-like 2
  • tubulin alpha chain-like 2
    • Synonym symbol(s) TUBAL2, TBA8
    DNA
    TYPE functioning gene
    STRUCTURE 20.94 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    IL17R 22q11.1 interleukin 17 receptor CECR6 22q11.2 cat eye syndrome chromosome region, candidate 6 CECR5 22q11.2 cat eye syndrome chromosome region, candidate 5 CECR1 22q11.2 cat eye syndrome chromosome region, candidate 1 RPL32L2 22q11.1 ribosomal protein L32-like 2 CLCP1 22q11.2 Charot-Leyden crystal protein pseudogene 1 CECR2 22q11.2 cat eye syndrome chromosome region, candidate 2 SLC25A18 22q11.2 solute carrier family 25, (mitochondrial carrier), member 18 ATP6V1E1 22q11.21 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1 BCL2L13 22q11.2 BCL2-like 13 (apoptosis facilitator) BID 22q11.21 BH3 interacting domain death agonist FLJ40542 22q11.21 hypothetical protein FLJ40542 LOC388843 22 LOC388843 KIAA0819 22q11.21 KIAA0819 protein MICAL3 22q11.21 flavoprotein oxidoreductase MICAL3 PEX26 22q11.21 peroxisome biogenesis factor 26 TUBA8 22q11 tubulin, alpha 8 USP18 22q11.21 ubiquitin specific protease 18 LOC391291 22 LOC391291 LOC388844 22 hypothetical gene supported by AK097777; AK128837; AK129567; BC040613 LOC220522 22q11.21 similar to Gamma-glutamyltranspeptidase 1 precursor (Gamma-glutamyltransferase 1) (CD224 antigen) LOC391292 22 similar to immunoglobulin superfamily, member 3; immunoglobin superfamily, member 3 LOC386610 22q11.21 E2F transcription factor 6 pseudogene LOC388845 22 LOC388845 LOC388846 22 similar to hypothetical protein DKFZp434P211.1 - human (fragments) LOC388847 22 similar to breakpoint cluster region isoform 1 LOC391293 22 LOC391293 LOC388848 22 LOC388848 DGCR6 22q11.21 DiGeorge syndrome critical region gene 6 PRODH 22q11.21 proline dehydrogenase (oxidase) 1 DGCR5 22q11 DiGeorge syndrome critical region gene 5 (non-coding) LOC391294 22 similar to POM121 membrane glycoprotein-like 1 LOC343830 22q11.21 similar to carbonic anhydrase XV DGCR2 22q11.21 DiGeorge syndrome critical region gene 2 LOC391295 22 similar to serine/threonine kinase FKSG81; spermiogenesis associated 4 STK22B 22q11.2 serine/threonine kinase 22B (spermiogenesis associated) DGCR14 22q11.21 DiGeorge syndrome critical region gene 14 GSCL 22q11.21 goosecoid-like SLC25A1 22q11.21 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 CLTCL1 22q11.21 clathrin, heavy polypeptide-like 1 HIRA 22q11.21-q11.23 HIR histone cell cycle regulation defective homolog A (S. cerevisiae) MRPL40 22q11.2 mitochondrial ribosomal protein L40 LOC128977 22q11.21 hypothetical protein LOC128977 UFD1L 22q11.21 ubiquitin fusion degradation 1-like CDC45L 22q11.2 CDC45 cell division cycle 45-like (S. cerevisiae) CLDN5 22q11.21 claudin 5 (transmembrane protein deleted in velocardiofacial syndrome)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2018 - 449 - Stanchi (2000)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrainforebraincerebral cortex highly
    Reproductivemale systemtestis   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text widely expressed in developing neural structures (Abdollahi 2009)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Tuba8
    Homologene
    FAMILY
  • tubulin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • major constituent of microtubules
  • may be playing a role in regulating mammalian brain development (Abdollahi 2009)
  • participates in microtubule assembly in mammalian cells (Abdollahi 2009)
  • implicated in a specific aspect of cerebral cortical development (Abdollahi 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PMGOH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS