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TUBB4A (tubulin beta 4A class IVa)

Identity

Alias_namesTUBB4
DYT4
tubulin, beta 4
tubulin, beta 4 class IVa
dystonia 4, torsion (autosomal dominant)
Alias_symbol (synonym)beta-5
Other alias
HGNC (Hugo) TUBB4A
LocusID (NCBI) 10382
Atlas_Id 56600
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 6494330 and ends at 6502859 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KDM5A (12p13.33) / TUBB4A (19p13.3)LDB3 (10q23.2) / TUBB4A (19p13.3)MALAT1 (11q13.1) / TUBB4A (19p13.3)
PBX2 (6p21.32) / TUBB4A (19p13.3)PPT2 (6p21.32) / TUBB4A (19p13.3)RILPL1 (12q24.31) / TUBB4A (19p13.3)
TUBB4A (19p13.3) / RBM20 (10q25.2)TUBB4A (19p13.3) / TCF4 (18q21.2)TUBG2 (17q21.2) / TUBB4A (19p13.3)

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)TUBB4A   20774
Cards
Entrez_Gene (NCBI)TUBB4A  10382  tubulin beta 4A class IVa
AliasesDYT4; TUBB4; beta-5
GeneCards (Weizmann)TUBB4A
Ensembl hg19 (Hinxton)ENSG00000104833 [Gene_View]  chr19:6494330-6502859 [Contig_View]  TUBB4A [Vega]
Ensembl hg38 (Hinxton)ENSG00000104833 [Gene_View]  chr19:6494330-6502859 [Contig_View]  TUBB4A [Vega]
ICGC DataPortalENSG00000104833
TCGA cBioPortalTUBB4A
AceView (NCBI)TUBB4A
Genatlas (Paris)TUBB4A
WikiGenes10382
SOURCE (Princeton)TUBB4A
Genetics Home Reference (NIH)TUBB4A
Genomic and cartography
GoldenPath hg19 (UCSC)TUBB4A  -     chr19:6494330-6502859 -  19p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TUBB4A  -     19p13.3   [Description]    (hg38-Dec_2013)
EnsemblTUBB4A - 19p13.3 [CytoView hg19]  TUBB4A - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBITUBB4A [Mapview hg19]  TUBB4A [Mapview hg38]
OMIM602662   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001289123 NM_001289127 NM_001289129 NM_001289130 NM_001289131 NM_006087
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TUBB4A
Cluster EST : UnigeneHs.110837 [ NCBI ]
CGAP (NCI)Hs.110837
Alternative Splicing GalleryENSG00000104833
Gene ExpressionTUBB4A [ NCBI-GEO ]   TUBB4A [ EBI - ARRAY_EXPRESS ]   TUBB4A [ SEEK ]   TUBB4A [ MEM ]
Gene Expression Viewer (FireBrowse)TUBB4A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10382
GTEX Portal (Tissue expression)TUBB4A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04350   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04350  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04350
Splice isoforms : SwissVarP04350
PhosPhoSitePlusP04350
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)TUBB4A
DMDM Disease mutations10382
Blocks (Seattle)TUBB4A
SuperfamilyP04350
Human Protein AtlasENSG00000104833
Peptide AtlasP04350
HPRD04045
IPIIPI00023598   IPI00956241   IPI00926685   
Protein Interaction databases
DIP (DOE-UCLA)P04350
IntAct (EBI)P04350
FunCoupENSG00000104833
BioGRIDTUBB4A
STRING (EMBL)TUBB4A
ZODIACTUBB4A
Ontologies - Pathways
QuickGOP04350
Ontology : AmiGOG2/M transition of mitotic cell cycle  GTPase activity  structural constituent of cytoskeleton  GTP binding  nucleus  cytosol  microtubule  cilium  cytoskeleton organization  microtubule-based process  internode region of axon  neuronal cell body  myelin sheath  extracellular exosome  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  GTPase activity  structural constituent of cytoskeleton  GTP binding  nucleus  cytosol  microtubule  cilium  cytoskeleton organization  microtubule-based process  internode region of axon  neuronal cell body  myelin sheath  extracellular exosome  
Pathways : KEGGPhagosome    Gap junction    Pathogenic Escherichia coli infection   
NDEx NetworkTUBB4A
Atlas of Cancer Signalling NetworkTUBB4A
Wikipedia pathwaysTUBB4A
Orthology - Evolution
OrthoDB10382
GeneTree (enSembl)ENSG00000104833
Phylogenetic Trees/Animal Genes : TreeFamTUBB4A
HOVERGENP04350
HOGENOMP04350
Homologs : HomoloGeneTUBB4A
Homology/Alignments : Family Browser (UCSC)TUBB4A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTUBB4A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TUBB4A
dbVarTUBB4A
ClinVarTUBB4A
1000_GenomesTUBB4A 
Exome Variant ServerTUBB4A
ExAC (Exome Aggregation Consortium)TUBB4A (select the gene name)
Genetic variants : HAPMAP10382
Genomic Variants (DGV)TUBB4A [DGVbeta]
DECIPHER (Syndromes)19:6494330-6502859  ENSG00000104833
CONAN: Copy Number AnalysisTUBB4A 
Mutations
ICGC Data PortalTUBB4A 
TCGA Data PortalTUBB4A 
Broad Tumor PortalTUBB4A
OASIS PortalTUBB4A [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDTUBB4A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TUBB4A
DgiDB (Drug Gene Interaction Database)TUBB4A
DoCM (Curated mutations)TUBB4A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TUBB4A (select a term)
intoGenTUBB4A
Cancer3DTUBB4A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602662   
Orphanet16896    13822   
MedgenTUBB4A
Genetic Testing Registry TUBB4A
NextProtP04350 [Medical]
TSGene10382
GENETestsTUBB4A
Huge Navigator TUBB4A [HugePedia]
snp3D : Map Gene to Disease10382
BioCentury BCIQTUBB4A
ClinGenTUBB4A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10382
Chemical/Pharm GKB GenePA134949465
Clinical trialTUBB4A
Miscellaneous
canSAR (ICR)TUBB4A (select the gene name)
Probes
Litterature
PubMed91 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTUBB4A
EVEXTUBB4A
GoPubMedTUBB4A
iHOPTUBB4A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:32:48 CET 2017

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