Aliases for TUBB2A Gene
Aliases for TUBB2A Gene
External Ids for TUBB2A Gene
- HGNC: 12412
- Entrez Gene: 7280
- Ensembl: ENSG00000137267
- OMIM: 615101
- UniProtKB: Q13885
Previous HGNC Symbols for TUBB2A Gene
- TUBB
- TUBB2
Previous GeneCards Identifiers for TUBB2A Gene
- GC06M003101
- GC06M003024
Summaries for TUBB2A Gene
-
Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
GeneCards Summary for TUBB2A Gene
TUBB2A (Tubulin Beta 2A Class IIa) is a Protein Coding gene. Diseases associated with TUBB2A include Cortical Dysplasia, Complex, With Other Brain Malformations 5 and Tubulin, Beta. Among its related pathways are Development Slit-Robo signaling and PAK Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB2B.
UniProtKB/Swiss-Prot for TUBB2A Gene
-
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).
-
Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).
Additional gene information for TUBB2A Gene
- Monarch Initiative
- Search for TUBB2A at DataMed
- Search for TUBB2A at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBB2A Gene
Genomics for TUBB2A Gene
GeneHancer (GH) Regulatory Elements for TUBB2A Gene
Promoters and enhancers for TUBB2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TUBB2A on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for TUBB2A Gene
Genomic Locations for TUBB2A Gene
- chr6:3,153,666-3,157,549
- (GRCh38/hg38)
- Size:
- 3,884 bases
- Orientation:
- Minus strand
- chr6:3,153,900-3,157,783
- (GRCh37/hg19)
Genomic View for TUBB2A Gene
Genes around TUBB2A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p25.2 by Ensembl
- 6p25.2 by Entrez Gene
- 6p25.2 by HGNC
TUBB2A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TUBB2A Gene
Proteins for TUBB2A Gene
-
Protein details for TUBB2A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13885-TBB2A_HUMAN
- Recommended name:
- Tubulin beta-2A chain
- Protein Accession:
- Q13885
- Q6FGZ8
- Q8IWR2
Protein attributes for TUBB2A Gene
- Size:
- 445 amino acids
- Molecular mass:
- 49907 Da
- Quaternary structure:
-
- Interacts with ZNRF1 (By similarity). Part of a complex composed at least of ASCL2, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity (By similarity). Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells.
Protein Expression for TUBB2A Gene
Post-translational modifications for TUBB2A Gene
- Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.
- Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).
- Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
- Ubiquitination at posLast=5858
Other Protein References for TUBB2A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for TUBB2A
-
Abcam antibodies for TUBB2A
- Invitrogen Antibodies for TUBB2A
- GeneTex TUBB2A antibody for TUBB2A
-
Santa Cruz Biotechnology (SCBT) Antibodies for TUBB2A
Protein Products
-
OriGene Purified Proteins for TUBB2A
- Search Origene for MassSpec and Protein Over-expression Lysates for TUBB2A
- Origene Custom Protein Services for TUBB2A
- Search GeneTex for Proteins for TUBB2A
Assay Products
No data available for DME Specific Peptides for TUBB2A Gene
Domains & Families for TUBB2A Gene
Gene Families for TUBB2A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for TUBB2A Gene
Suggested Antigen Peptide Sequences for TUBB2A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13885- Family:
-
- Belongs to the tubulin family.
Function for TUBB2A Gene
Molecular function for TUBB2A Gene
- UniProtKB/Swiss-Prot Function:
- Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).
Phenotypes From GWAS Catalog for TUBB2A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003924 | GTPase activity | IEA | -- |
| GO:0005200 | structural constituent of cytoskeleton | IEA | -- |
| GO:0005515 | protein binding | IPI | 21044950 |
| GO:0005525 | GTP binding | IEA | -- |
Phenotypes for TUBB2A Gene
- GenomeRNAi human phenotypes for TUBB2A:
-
- Increased viability
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability ratio
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Decreased viability
- Decreased shRNA abundance
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for TUBB2A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TUBB2A gene
- Search ViGene Biosciences for TUBB2A
CRISPR Products
-
OriGene CRISPR knockouts for TUBB2A
- genomics-online: gRNA clones - Search results for 135 available TUBB2A gene related products
- Overview of 135 available TUBB2A gene related products
- Applied Biological Materials CRISPR for TUBB2A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TUBB2A
- GenScript: Design CRISPR guide RNA sequences for TUBB2A
miRNA for TUBB2A Gene
- miRTarBase miRNAs that target TUBB2A
-
- hsa-mir-484 (MIRT041626)
- hsa-mir-29a-3p (MIRT437712)
- hsa-mir-29b-3p (MIRT437713)
- hsa-mir-29c-3p (MIRT437714)
- hsa-mir-6869-5p (MIRT464982)
- hsa-mir-6834-5p (MIRT464983)
- hsa-mir-4303 (MIRT464984)
- hsa-mir-6892-5p (MIRT464985)
- hsa-mir-208b-3p (MIRT464986)
- hsa-mir-208a-3p (MIRT464987)
- hsa-mir-486-3p (MIRT464988)
- hsa-mir-8085 (MIRT464989)
- hsa-mir-6731-5p (MIRT464990)
- hsa-mir-8059 (MIRT464991)
- hsa-mir-4471 (MIRT464992)
- hsa-mir-548au-3p (MIRT464993)
- hsa-mir-6134 (MIRT464994)
- hsa-mir-7854-3p (MIRT464995)
- hsa-mir-6133 (MIRT464996)
- hsa-mir-6130 (MIRT464997)
- hsa-mir-6129 (MIRT464998)
- hsa-mir-6127 (MIRT464999)
- hsa-mir-4510 (MIRT465000)
- hsa-mir-4419a (MIRT465001)
- hsa-mir-6875-5p (MIRT465002)
- hsa-mir-3126-5p (MIRT465003)
- hsa-mir-6770-5p (MIRT465004)
- hsa-mir-1253 (MIRT465005)
- hsa-mir-7162-3p (MIRT465006)
- hsa-mir-4649-3p (MIRT465007)
- hsa-mir-4251 (MIRT465008)
- hsa-mir-544b (MIRT465009)
- hsa-mir-4719 (MIRT465010)
- hsa-mir-6743-5p (MIRT465011)
- hsa-mir-4688 (MIRT465012)
- hsa-mir-6822-5p (MIRT465013)
- hsa-mir-6750-5p (MIRT465014)
- hsa-mir-4293 (MIRT465015)
- hsa-mir-4475 (MIRT465016)
- hsa-mir-3978 (MIRT489395)
- hsa-mir-4436b-5p (MIRT489396)
- hsa-mir-6509-3p (MIRT489397)
- hsa-mir-4451 (MIRT489398)
- hsa-mir-6799-5p (MIRT489399)
- hsa-mir-5196-5p (MIRT489400)
- hsa-mir-4747-5p (MIRT489401)
- hsa-mir-4533 (MIRT489402)
- hsa-mir-8077 (MIRT489403)
- hsa-mir-571 (MIRT489404)
- hsa-mir-4765 (MIRT489405)
- hsa-mir-1236-5p (MIRT489406)
- hsa-mir-98-5p (MIRT489407)
- hsa-mir-4458 (MIRT489408)
- hsa-mir-4500 (MIRT489409)
- hsa-let-7i-5p (MIRT489410)
- hsa-let-7g-5p (MIRT489411)
- hsa-let-7f-5p (MIRT489412)
- hsa-let-7e-5p (MIRT489413)
- hsa-let-7d-5p (MIRT489414)
- hsa-let-7c-5p (MIRT489415)
- hsa-let-7b-5p (MIRT489416)
- hsa-let-7a-5p (MIRT489417)
- hsa-mir-3160-3p (MIRT489418)
- hsa-mir-5681a (MIRT489419)
- hsa-mir-6831-5p (MIRT489420)
- hsa-mir-3927-3p (MIRT489421)
- hsa-mir-4756-5p (MIRT489422)
- hsa-mir-4739 (MIRT489423)
- hsa-mir-9500 (MIRT489424)
- hsa-mir-1321 (MIRT489425)
- hsa-mir-708-5p (MIRT489426)
- hsa-mir-3139 (MIRT489427)
- hsa-mir-28-5p (MIRT489428)
- hsa-mir-541-5p (MIRT489429)
- hsa-mir-6859-5p (MIRT489430)
- hsa-mir-3916 (MIRT489431)
- hsa-mir-3125 (MIRT489432)
- hsa-mir-527 (MIRT500634)
- hsa-mir-518a-5p (MIRT500635)
- hsa-mir-548aw (MIRT500636)
- hsa-mir-4684-3p (MIRT500637)
- hsa-mir-1468-3p (MIRT500638)
- hsa-mir-548x-5p (MIRT500639)
- hsa-mir-548g-5p (MIRT500640)
- hsa-mir-548f-5p (MIRT500641)
- hsa-mir-548aj-5p (MIRT500642)
- hsa-mir-1273f (MIRT500643)
- hsa-mir-4708-5p (MIRT500644)
- hsa-mir-6088 (MIRT500645)
- hsa-mir-4770 (MIRT500646)
- hsa-mir-143-3p (MIRT500647)
- hsa-mir-545-3p (MIRT500648)
- hsa-mir-548p (MIRT500649)
- hsa-mir-5680 (MIRT500650)
- hsa-mir-3120-3p (MIRT500651)
- hsa-mir-1252-3p (MIRT500652)
- hsa-mir-6515-5p (MIRT505268)
- hsa-mir-4443 (MIRT505269)
- hsa-mir-488-3p (MIRT505270)
- hsa-mir-6797-5p (MIRT505271)
- hsa-mir-1249-5p (MIRT505272)
- hsa-mir-5186 (MIRT505273)
- hsa-mir-6760-5p (MIRT505274)
- hsa-mir-4538 (MIRT505275)
- hsa-mir-4453 (MIRT505276)
- hsa-mir-8084 (MIRT505277)
- hsa-mir-4796-3p (MIRT505278)
- hsa-mir-369-3p (MIRT505279)
- hsa-mir-200b-3p (MIRT505280)
- hsa-mir-429 (MIRT505281)
- hsa-mir-200c-3p (MIRT505282)
- hsa-mir-6887-5p (MIRT510585)
- hsa-mir-6795-5p (MIRT510586)
- hsa-mir-625-5p (MIRT510587)
- hsa-mir-6780b-5p (MIRT510588)
- hsa-mir-4725-3p (MIRT510589)
- hsa-mir-4271 (MIRT510590)
- hsa-mir-6828-5p (MIRT510591)
- hsa-mir-620 (MIRT510592)
- hsa-mir-1270 (MIRT510593)
- hsa-mir-4732-5p (MIRT510594)
- hsa-mir-4683 (MIRT510595)
- hsa-mir-432-5p (MIRT510596)
- hsa-mir-3613-3p (MIRT553281)
- hsa-mir-1305 (MIRT561388)
- hsa-mir-627-3p (MIRT561389)
- hsa-mir-372-5p (MIRT561390)
- hsa-mir-371a-5p (MIRT561391)
- hsa-mir-616-5p (MIRT561392)
- hsa-mir-373-5p (MIRT561393)
- hsa-mir-371b-5p (MIRT561394)
- hsa-mir-195-3p (MIRT561395)
- hsa-mir-16-2-3p (MIRT561396)
- hsa-mir-3163 (MIRT561397)
- hsa-mir-6838-5p (MIRT561398)
- hsa-mir-497-5p (MIRT561399)
- hsa-mir-424-5p (MIRT561400)
- hsa-mir-195-5p (MIRT561401)
- hsa-mir-16-5p (MIRT561402)
- hsa-mir-15b-5p (MIRT561403)
- hsa-mir-15a-5p (MIRT561404)
- hsa-mir-216a-5p (MIRT561405)
- hsa-mir-4517 (MIRT561406)
- hsa-mir-4803 (MIRT561407)
- hsa-mir-3121-3p (MIRT561408)
- hsa-mir-548e-5p (MIRT561409)
- hsa-mir-421 (MIRT561410)
- hsa-mir-505-3p (MIRT561411)
- hsa-mir-8065 (MIRT565133)
- hsa-mir-7853-5p (MIRT565134)
- hsa-mir-105-5p (MIRT565135)
- hsa-mir-4773 (MIRT565136)
- hsa-mir-30e-3p (MIRT565137)
- hsa-mir-30d-3p (MIRT565138)
- hsa-mir-30a-3p (MIRT565139)
- hsa-mir-3620-5p (MIRT565140)
- hsa-mir-651-5p (MIRT565141)
- hsa-mir-1587 (MIRT565142)
- hsa-mir-4674 (MIRT565143)
- hsa-mir-3187-3p (MIRT565144)
- hsa-mir-4291 (MIRT565145)
- hsa-mir-4666a-5p (MIRT565146)
- hsa-mir-27a-5p (MIRT565147)
- hsa-mir-4529-5p (MIRT565148)
- hsa-mir-383-3p (MIRT565149)
- hsa-mir-1265 (MIRT565150)
- hsa-mir-3065-3p (MIRT565151)
- hsa-mir-2392 (MIRT565152)
- hsa-mir-7977 (MIRT565153)
- hsa-mir-4784 (MIRT565154)
- hsa-mir-3150b-3p (MIRT565155)
- hsa-mir-759 (MIRT565156)
- hsa-mir-6856-5p (MIRT565157)
- hsa-mir-4311 (MIRT565158)
- hsa-mir-6758-5p (MIRT565159)
- hsa-mir-4262 (MIRT565160)
- hsa-mir-181b-5p (MIRT565161)
- hsa-mir-181c-5p (MIRT565162)
- hsa-mir-181a-5p (MIRT565163)
- hsa-mir-181d-5p (MIRT565164)
- hsa-mir-6866-5p (MIRT565165)
- hsa-mir-1827 (MIRT565166)
- hsa-mir-4662a-3p (MIRT565167)
- hsa-mir-1323 (MIRT737385)
- hsa-mir-3663-3p (MIRT742008)
- hsa-mir-548a-3p (MIRT750468)
- hsa-mir-548ar-3p (MIRT750586)
- hsa-mir-548az-3p (MIRT750648)
- hsa-mir-548e-3p (MIRT750701)
- hsa-mir-548f-3p (MIRT750711)
- hsa-mir-548o-3p (MIRT750772)
- hsa-mir-6882-5p (MIRT758365)
- hsa-mir-767-5p (MIRT759685)
miRNA Products
- Search ViGene Biosciences for TUBB2A
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TUBB2A
- Browse OriGene Inhibitory RNA Products For TUBB2A
- genomics-online: shRNA clones - Search results for 135 available TUBB2A gene related products
- Overview of 135 available TUBB2A gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TUBB2A gene
Clone Products
- Sino Biological Human cDNA Clone for TUBB2A
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Applied Biological Materials Clones for TUBB2A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TUBB2A
-
ViGene Biosciences adenoviral particle packaged cDNA for TUBB2A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TUBB2A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TUBB2A gene
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB2A Gene
Localization for TUBB2A Gene
Subcellular locations from UniProtKB/Swiss-Prot for TUBB2A Gene
- Cytoplasm, cytoskeleton.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 3 |
| peroxisome | 1 |
- Microtubules (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,HDA | 21630459 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005874 | microtubule | IDA,IEA | 21525035 |
| GO:0015630 | microtubule cytoskeleton | IDA | -- |
Pathways & Interactions for TUBB2A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sertoli-Sertoli Cell Junction Dynamics | ||
| 2 | Development Slit-Robo signaling | ||
| 3 | G-Beta Gamma Signaling | ||
| 4 | Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding | ||
| 5 | GPCR Pathway | ||
Pathways by source for TUBB2A Gene
4 BioSystems pathways for TUBB2A Gene
7 Reactome pathways for TUBB2A Gene
3 KEGG pathways for TUBB2A Gene
10 GeneGo (Thomson Reuters) pathways for TUBB2A Gene
Interacting Proteins for TUBB2A Gene
Selected Interacting proteins:
ENSP00000369703
Q13885-TBB2A_HUMAN
for TUBB2A Gene via
STRING
MINT
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007010 | cytoskeleton organization | IEA | -- |
| GO:0007017 | microtubule-based process | IEA | -- |
Drugs & Compounds for TUBB2A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Ixabepilone | Approved, Investigational | Pharma | Epothilone B analog;microtubule-stabilizing agent | 0 | ||
| Vinblastine | Approved | Pharma | inhibitor | 439 | ||
| Vincristine | Approved, Investigational | Pharma | binder | Microtubule disrupter,antitumor agent | 965 | |
| Vinorelbine | Approved, Investigational | Pharma | inhibitor | 396 | ||
| Guanosine triphosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(5) Tocris Compounds for TUBB2A Gene
| Compound | Action | Cas Number |
|---|---|---|
| MPC 6827 hydrochloride | Inhibitor of microtubule polymerization; antimitotic and antitumor | 917369-31-4 |
| Nocodazole | Microtubule inhibitor | 31430-18-9 |
| Noscapine hydrochloride | Tubulin inhibitor; induces apoptosis | 912-60-7 |
| Taxol | Promotes assembly and inhibits disassembly of microtubules | 33069-62-4 |
| Vinblastine sulfate | Disrupts microtubules | 143-67-9 |
Transcripts for TUBB2A Gene
mRNA/cDNA for TUBB2A Gene
- (2) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (2209) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TUBB2A Gene
CRISPR Products
-
OriGene CRISPR knockouts for TUBB2A
- genomics-online: gRNA clones - Search results for 135 available TUBB2A gene related products
- Overview of 135 available TUBB2A gene related products
- Applied Biological Materials CRISPR for TUBB2A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TUBB2A
- GenScript: Design CRISPR guide RNA sequences for TUBB2A
miRNA Products
- Search ViGene Biosciences for TUBB2A
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TUBB2A
- Browse OriGene Inhibitory RNA Products For TUBB2A
- genomics-online: shRNA clones - Search results for 135 available TUBB2A gene related products
- Overview of 135 available TUBB2A gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TUBB2A gene
Clone Products
- Sino Biological Human cDNA Clone for TUBB2A
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Applied Biological Materials Clones for TUBB2A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for TUBB2A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Hair (Integumentary System)
- Fetal Matrix Cells Hair Follicle
-
Epithelial Cells
- Fetal Matrix Cells Hair Follicle
-
Ovary (Reproductive System)
- Secondary Oocyte Antral Follicle
-
Gonad
- Secondary Oocyte Antral Follicle
- Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for TUBB2A Gene
This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x4.9), Brain - Cortex (x4.5), Brain - Frontal Cortex (BA9) (x4.4), and Brain - Hypothalamus (x4.2).
This gene is overexpressed in Fetal Brain (12.1), Spinal cord (7.6), Retina (7.1), and Bone (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TUBB2A Gene
NURSA nuclear receptor signaling pathways regulating expression of TUBB2A Gene:
TUBB2ASOURCE GeneReport for Unigene cluster for TUBB2A Gene:
Hs.654543mRNA Expression by UniProt/SwissProt for TUBB2A Gene:
Q13885-TBB2A_HUMAN
Tissue specificity:
High expression in brain, where it represents 30% of all beta-tubulins.
Evidence on tissue expression from TISSUES for TUBB2A Gene
- Nervous system(5)
- Eye(4.4)
- Skin(4.4)
- Lung(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBB2A Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Organs:
Head and neck:
- brain
- head
Primer Products
-
OriGene qPCR primer pairs for TUBB2A
-
OriGene qPCR primer pairs and template standards for TUBB2A
- genomics-online: primer clones - Search results for 135 available TUBB2A gene related products
- Overview of 135 available TUBB2A gene related products
Orthologs for TUBB2A Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | TUBB2B 34 |
|
OneToOne | |
| LOC100295973 33 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TUBB2A 34 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | TUBB2A 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tubb2a 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Tubb2a 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | -- 34 |
|
ManyToMany | |
| TUBB2B 34 |
|
ManyToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tubb4a 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | TUBB2A 34 |
|
OneToMany | |
| zgc:112335 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | betaTub85D 34 |
|
OneToMany | |
| betaTub97EF 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005293 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | mec-7 34 |
|
ManyToMany | |
| tbb-4 34 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TUB2 34 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | TUB7 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os06g0671900 33 |
|
- Species where no ortholog for TUBB2A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- dog (Canis familiaris)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- 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)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for TUBB2A Gene
Paralogs for TUBB2A Gene
(28) SIMAP similar genes for TUBB2A Gene using alignment to 3 proteins:
Variants for TUBB2A Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs2808001 | pathogenic, likely-benign, Cortical dysplasia, complex, with other brain malformations 5, not specified, not provided, Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763] | 3,154,458(-) | G/A | coding_sequence_variant, missense_variant | |
| rs774124807 | A colorectal cancer sample | 3,155,718(-) | G/A | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
| rs797046074 | conflicting-interpretations-of-pathogenicity, Cortical dysplasia, complex, with other brain malformations 5 | 3,154,168(-) | T/A | coding_sequence_variant, missense_variant | |
| rs863224939 | likely-pathogenic, Cortical dysplasia, complex, with other brain malformations 5 | 3,154,329(-) | T/G | coding_sequence_variant, missense_variant | |
| rs886037663 | pathogenic, Cortical dysplasia, complex, with other brain malformations 5, Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763] | 3,154,460(-) | G/C | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2624823 | CNV | deletion | 19546169 |
| esv2731488 | CNV | deletion | 23290073 |
| esv3576092 | CNV | gain | 25503493 |
| esv4042 | CNV | loss | 18987735 |
| esv7105 | CNV | loss | 19470904 |
| nsv1145089 | CNV | deletion | 24896259 |
| nsv462614 | CNV | gain | 19166990 |
| nsv600846 | CNV | gain | 21841781 |
| nsv965675 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.08;
1.91% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TUBB2A Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB2A Gene
Disorders for TUBB2A Gene
(6) MalaCards diseases for TUBB2A Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cortical dysplasia, complex, with other brain malformations 5 |
|
|
| tubulin, beta |
|
|
| complex cortical dysplasia with other brain malformations |
|
|
| chondroid chordoma |
|
|
| lung mucoepidermoid carcinoma |
|
|
Search TUBB2A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TBB2A_HUMAN- Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa. {ECO:0000269 PubMed:24702957}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TUBB2A
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TUBB2A Gene
Publications for TUBB2A Gene
- The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 2 3 4 58
- De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. (PMID: 24702957) Cushion TD … Dobyns WB (American journal of human genetics 2014) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 58
Products for TUBB2A Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for TUBB2A
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for TUBB2A
- Search Origene for MassSpec and Protein Over-expression Lysates for TUBB2A
- Origene Custom Protein Services for TUBB2A
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TUBB2A
- Browse OriGene Inhibitory RNA Products For TUBB2A
- OriGene qPCR primer pairs and template standards for TUBB2A
- OriGene qPCR primer pairs for TUBB2A
- OriGene CRISPR knockouts for TUBB2A
- OriGene ORF clones in human for TUBB2A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TUBB2A
- GenScript: Next-day shipping of latest version cDNA ORF clones for TUBB2A in any vector
- GenScript Custom Purified and Recombinant Proteins Services for TUBB2A
- GenScript Custom Assay Services for TUBB2A
- GenScript Custom overexpressing Cell Line Services for TUBB2A
- GenScript: Design CRISPR guide RNA sequences for TUBB2A
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for TUBB2A
- Sino Biological Human cDNA Clone for TUBB2A
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for TUBB2A
- Novus Biologicals proteins and lysates for TUBB2A
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for TUBB2A
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for TUBB2A
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- antibodies-online: Search results for 71 available TUBB2A Antibodies ranked by validation data
- Compare Top TUBB2A Antibodies
- antibodies-online: Search results for available TUBB2A related products ranked by validation data
- antibodies-online: Search results for 7 available TUBB2A Proteins ranked by validation data
- Compare Top TUBB2A Proteins
- GeneTex TUBB2A antibody for TUBB2A
- Search GeneTex for Proteins for TUBB2A
- ViGene Biosciences adenoviral particle packaged cDNA for TUBB2A gene
- ViGene Biosciences lentiviral particle packaged cDNA for TUBB2A gene
- ViGene Biosciences ready-to-package AAV shRNAs for TUBB2A gene
- Search ViGene Biosciences for TUBB2A
- Santa Cruz Biotechnology (SCBT) Antibodies for TUBB2A
- Search Santa Cruz Biotechnology (SCBT) for TUBB2A siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TUBB2A
- Horizon Cell Lines for TUBB2A
- genomics-online: cdna clones - Search results for 135 available TUBB2A gene related products
- Overview of 135 available TUBB2A gene related products
- orf clones - Search results for 135 available TUBB2A gene related products
- Overview of 135 available TUBB2A gene related products
- genomics-online: gRNA clones - Search results for 135 available TUBB2A gene related products
- Overview of 135 available TUBB2A gene related products
- genomics-online: primer clones - Search results for 135 available TUBB2A gene related products
- Overview of 135 available TUBB2A gene related products
- genomics-online: shRNA clones - Search results for 135 available TUBB2A gene related products
- Overview of 135 available TUBB2A gene related products
Sources for TUBB2A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew