Human Gene TUBB3 (uc010cja.3) Description and Page Index
  Description: Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.
RefSeq Summary (NM_006086): This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010].
Transcript (Including UTRs)
   Position: hg19 chr16:89,989,687-90,000,546 Size: 10,860 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr16:89,998,998-90,000,239 Size: 1,242 Coding Exon Count: 3 

Page IndexSequence and LinksMalaCardsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:89,989,687-90,000,546)mRNA (may differ from genome)Protein (102 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIPubMedStanford SOURCE
Wikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: TUBB3
Diseases sorted by gene-association score: cortical dysplasia, complex, with other brain malformations 1* (1681), fibrosis of extraocular muscles, congenital, 3a* (1231), tukel syndrome* (476), tubulinopathy-associated dysgyria* (350), tubb3-related congenital fibrosis of the extraocular muscles* (200), refractive error (30), ovarian carcinosarcoma (27), ocular motility disease (25), hypotropia (23), cranial nerve disease (23), exotropia (22), paralytic squint (21), physical disorder (20), pineal gland cancer (19), congenital nervous system abnormality (14), amyloid tumor (14), amblyopia (13), tracheomalacia (13), segmental dystonia (13), leukodystrophy, hypomyelinating, 6 (13), peripheral nervous system disease (13), neonatal anemia (12), tracheal disease (12), ptosis, congenital (12), cell type cancer (11), charcot-marie-tooth disease, axonal, type 2k (11), marcus gunn phenomenon (11), strabismus (11), charcot-marie-tooth disease, type 4a (10), moebius syndrome (10), polyneuropathy (10), pathologic nystagmus (10), ptosis (10), female reproductive organ cancer (9), embryonal carcinoma (9), peritoneum cancer (8), pineocytoma (8), exposure keratitis (8), kearns-sayre syndrome (8), duane retraction syndrome (8), pick disease (7), spastic cerebral palsy (7), esotropia (7), chondroid chordoma (7), congenital nystagmus (7), keratopathy (7), odontoma (7), lung cancer (7), twin-to-twin transfusion syndrome (6), spastic diplegia (6), corpus callosum agenesis (6), spinal cord glioma (6), dystonia-12 (6), pineal parenchymal tumor of intermediate differentiation (6), reproductive organ cancer (6), nervous system disease (5), adult medulloblastoma (5), poland syndrome (5), facial nerve disease (5), hypertropia (5), facial paralysis (5), distal arthrogryposis (4), ovarian cancer, somatic (2), corneal disease (2), charcot-marie-tooth disease, type 2e (1), kallmann syndrome (1), central nervous system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.99 RPKM in Brain - Cerebellum
Total median expression: 36.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -146.70338-0.434 Picture PostScript Text
3' UTR -150.50307-0.490 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC020171 - Homo sapiens cDNA clone IMAGE:3543976, **** WARNING: chimeric clone ****.
BT006971 - Homo sapiens tubulin, beta, 4 mRNA, complete cds.
AK292219 - Homo sapiens cDNA FLJ77784 complete cds.
LF384493 - JP 2014500723-A/191996: Polycomb-Associated Non-Coding RNAs.
AK314616 - Homo sapiens cDNA, FLJ95457, highly similar to Homo sapiens tubulin, beta, 4 (TUBB4), mRNA.
AK307201 - Homo sapiens cDNA, FLJ97149.
AK058140 - Homo sapiens cDNA FLJ25411 fis, clone TST03333, highly similar to TUBULIN BETA-3 CHAIN.
AK223039 - Homo sapiens mRNA for tubulin, beta, 4 variant, clone: JTH08432.
BC000748 - Homo sapiens tubulin, beta 3, mRNA (cDNA clone MGC:2411 IMAGE:2823044), complete cds.
BC003021 - Homo sapiens tubulin, beta 3, mRNA (cDNA clone MGC:4055 IMAGE:2823044), complete cds.
BC064975 - Homo sapiens tubulin, beta 3, mRNA (cDNA clone IMAGE:6152050), with apparent retained intron.
CU674384 - Synthetic construct Homo sapiens gateway clone IMAGE:100018303 5' read TUBB3 mRNA.
AB590840 - Synthetic construct DNA, clone: pFN21AE1913, Homo sapiens TUBB3 gene for tubulin, beta 3, without stop codon, in Flexi system.
KJ893021 - Synthetic construct Homo sapiens clone ccsbBroadEn_02415 TUBB3 gene, encodes complete protein.
AF427491 - Homo sapiens class III beta tubulin mRNA, complete cds.
U47634 - Human beta-tubulin class III isotype (beta-3) mRNA, complete cds.
S62643 - beta-tubulin {EST} [human, mRNA Partial, 300 nt].
AK122757 - Homo sapiens cDNA FLJ16289 fis, clone OCBBF2009920, highly similar to TUBULIN BETA-3 CHAIN.
BC001678 - Homo sapiens tubulin, beta 3, mRNA (cDNA clone IMAGE:2821278), partial cds.
AK127418 - Homo sapiens cDNA FLJ45510 fis, clone BRTHA2020910, highly similar to Tubulin beta-4 chain.
BC047518 - Homo sapiens tubulin, beta 3, mRNA (cDNA clone IMAGE:5276469), partial cds.
MA620070 - JP 2018138019-A/191996: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04540 - Gap junction
hsa05130 - Pathogenic Escherichia coli infection

-  Other Names for This Gene
  Alternate Gene Symbols: AK307201, uc010cja.2
UCSC ID: uc010cja.3
RefSeq Accession: NM_006086

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TUBB3:
cfeom (Congenital Fibrosis of the Extraocular Muscles)
tubulin-ov (Tubulinopathies Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK307201.1
exon count: 5CDS single in 3' UTR: no RNA size: 888
ORF size: 309CDS single in intron: no Alignment % ID: 99.66
txCdsPredict score: 618.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.