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TUBB3 (tubulin beta 3 class III)

Identity

Alias_namesFEOM3
tubulin, beta 3
fibrosis of extraocular muscles, congenital, 3
Alias_symbol (synonym)beta-4
CFEOM3
CFEOM3A
Other aliasCDCBM
CDCBM1
TUBB4
HGNC (Hugo) TUBB3
LocusID (NCBI) 10381
Atlas_Id 45664
Location 16q24.3  [Link to chromosome band 16q24]
Location_base_pair Starts at 89923279 and ends at 89936097 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TUBB3 (16q24.3) / IGFBP7 (4q12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TUBB3   20772
Cards
Entrez_Gene (NCBI)TUBB3  10381  tubulin beta 3 class III
AliasesCDCBM; CDCBM1; CFEOM3; CFEOM3A; 
FEOM3; TUBB4; beta-4
GeneCards (Weizmann)TUBB3
Ensembl hg19 (Hinxton)ENSG00000258947 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000258947 [Gene_View]  ENSG00000258947 [Sequence]  chr16:89923279-89936097 [Contig_View]  TUBB3 [Vega]
ICGC DataPortalENSG00000258947
TCGA cBioPortalTUBB3
AceView (NCBI)TUBB3
Genatlas (Paris)TUBB3
WikiGenes10381
SOURCE (Princeton)TUBB3
Genetics Home Reference (NIH)TUBB3
Genomic and cartography
GoldenPath hg38 (UCSC)TUBB3  -     chr16:89923279-89936097 +  16q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TUBB3  -     16q24.3   [Description]    (hg19-Feb_2009)
EnsemblTUBB3 - 16q24.3 [CytoView hg19]  TUBB3 - 16q24.3 [CytoView hg38]
Mapping of homologs : NCBITUBB3 [Mapview hg19]  TUBB3 [Mapview hg38]
OMIM600638   602661   614039   
Gene and transcription
Genbank (Entrez)AF427491 AK058140 AK122757 AK127418 AK223039
RefSeq transcript (Entrez)NM_001197181 NM_006086
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TUBB3
Cluster EST : UnigeneHs.511743 [ NCBI ]
CGAP (NCI)Hs.511743
Alternative Splicing GalleryENSG00000258947
Gene ExpressionTUBB3 [ NCBI-GEO ]   TUBB3 [ EBI - ARRAY_EXPRESS ]   TUBB3 [ SEEK ]   TUBB3 [ MEM ]
Gene Expression Viewer (FireBrowse)TUBB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10381
GTEX Portal (Tissue expression)TUBB3
Human Protein AtlasENSG00000258947-TUBB3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13509   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13509  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13509
Splice isoforms : SwissVarQ13509
PhosPhoSitePlusQ13509
Domaine pattern : Prosite (Expaxy)TUBULIN (PS00227)    TUBULIN_B_AUTOREG (PS00228)   
Domains : Interpro (EBI)Beta-tubulin_BS    Beta_tubulin    Tub_FtsZ_C    Tubulin    Tubulin/FtsZ_2-layer-sand-dom    Tubulin_C    Tubulin_CS    Tubulin_FtsZ_GTPase   
Domain families : Pfam (Sanger)Tubulin (PF00091)    Tubulin_C (PF03953)   
Domain families : Pfam (NCBI)pfam00091    pfam03953   
Domain families : Smart (EMBL)Tubulin (SM00864)  Tubulin_C (SM00865)  
Conserved Domain (NCBI)TUBB3
DMDM Disease mutations10381
Blocks (Seattle)TUBB3
PDB (SRS)5IJ0    5IJ9    5JCO   
PDB (PDBSum)5IJ0    5IJ9    5JCO   
PDB (IMB)5IJ0    5IJ9    5JCO   
PDB (RSDB)5IJ0    5IJ9    5JCO   
Structural Biology KnowledgeBase5IJ0    5IJ9    5JCO   
SCOP (Structural Classification of Proteins)5IJ0    5IJ9    5JCO   
CATH (Classification of proteins structures)5IJ0    5IJ9    5JCO   
SuperfamilyQ13509
Human Protein Atlas [tissue]ENSG00000258947-TUBB3 [tissue]
Peptide AtlasQ13509
HPRD04044
IPIIPI00013683   IPI00640115   
Protein Interaction databases
DIP (DOE-UCLA)Q13509
IntAct (EBI)Q13509
FunCoupENSG00000258947
BioGRIDTUBB3
STRING (EMBL)TUBB3
ZODIACTUBB3
Ontologies - Pathways
QuickGOQ13509
Ontology : AmiGOmitotic cell cycle  GTPase activity  structural constituent of cytoskeleton  protein binding  GTP binding  nucleus  cytoplasm  microtubule  cytoskeleton organization  microtubule-based process  axon guidance  axon  dendrite  peptide binding  neuronal cell body  extracellular exosome  cell periphery  
Ontology : EGO-EBImitotic cell cycle  GTPase activity  structural constituent of cytoskeleton  protein binding  GTP binding  nucleus  cytoplasm  microtubule  cytoskeleton organization  microtubule-based process  axon guidance  axon  dendrite  peptide binding  neuronal cell body  extracellular exosome  cell periphery  
Pathways : KEGGGap junction   
NDEx NetworkTUBB3
Atlas of Cancer Signalling NetworkTUBB3
Wikipedia pathwaysTUBB3
Orthology - Evolution
OrthoDB10381
GeneTree (enSembl)ENSG00000258947
Phylogenetic Trees/Animal Genes : TreeFamTUBB3
HOVERGENQ13509
HOGENOMQ13509
Homologs : HomoloGeneTUBB3
Homology/Alignments : Family Browser (UCSC)TUBB3
Gene fusions - Rearrangements
Fusion : QuiverTUBB3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTUBB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TUBB3
dbVarTUBB3
ClinVarTUBB3
1000_GenomesTUBB3 
Exome Variant ServerTUBB3
ExAC (Exome Aggregation Consortium)ENSG00000258947
GNOMAD BrowserENSG00000258947
Genetic variants : HAPMAP10381
Genomic Variants (DGV)TUBB3 [DGVbeta]
DECIPHERTUBB3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTUBB3 
Mutations
ICGC Data PortalTUBB3 
TCGA Data PortalTUBB3 
Broad Tumor PortalTUBB3
OASIS PortalTUBB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTUBB3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTUBB3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TUBB3
DgiDB (Drug Gene Interaction Database)TUBB3
DoCM (Curated mutations)TUBB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TUBB3 (select a term)
intoGenTUBB3
Cancer3DTUBB3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600638    602661    614039   
Orphanet21132    10586   
DisGeNETTUBB3
MedgenTUBB3
Genetic Testing Registry TUBB3
NextProtQ13509 [Medical]
TSGene10381
GENETestsTUBB3
Target ValidationTUBB3
Huge Navigator TUBB3 [HugePedia]
snp3D : Map Gene to Disease10381
BioCentury BCIQTUBB3
ClinGenTUBB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10381
Chemical/Pharm GKB GenePA134953867
Clinical trialTUBB3
Miscellaneous
canSAR (ICR)TUBB3 (select the gene name)
Probes
Litterature
PubMed197 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTUBB3
EVEXTUBB3
GoPubMedTUBB3
iHOPTUBB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jun 22 16:55:53 CEST 2018
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