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TUBB2A tubulin beta 2A class IIa [ Homo sapiens (human) ]

Gene ID: 7280, updated on 6-Oct-2024

Summary

Official Symbol
TUBB2Aprovided by HGNC
Official Full Name
tubulin beta 2A class IIaprovided by HGNC
Primary source
HGNC:HGNC:12412
See related
Ensembl:ENSG00000137267 MIM:615101; AllianceGenome:HGNC:12412
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TUBB; TUBB2; CDCBM5
Summary
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]
Annotation information
Note: TUBB (GeneID: 203068) and TUBB2A (Gene ID: 7280) share the TUBB symbol/alias in common. [07 Feb 2019]
Expression
Broad expression in brain (RPKM 301.1), bone marrow (RPKM 37.9) and 16 other tissues See more
Orthologs
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Genomic context

See TUBB2A in Genome Data Viewer
Location:
6p25.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3153666..3157544, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3020886..3024765, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3153900..3157778, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene receptor interacting serine/threonine kinase 1 Neighboring gene RNA, 5S ribosomal pseudogene 201 Neighboring gene uncharacterized LOC107986556 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3118179-3118814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16845 Neighboring gene biphenyl hydrolase like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3133721-3134377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23883 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:3148774-3148935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16846 Neighboring gene uncharacterized LOC105374889 Neighboring gene CRISPRi-validated cis-regulatory element chr6.177 Neighboring gene CRISPRi-validated cis-regulatory element chr6.179 Neighboring gene hESC enhancers GRCh37_chr6:3165973-3166571 and GRCh37_chr6:3166572-3167171 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:3167172-3167770 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3168370-3168967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3177505-3178025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3178965-3179464 Neighboring gene tubulin beta 2B class IIb pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1 PubMed
Pr55(Gag) gag Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1 PubMed
Rev rev HIV-1 Rev interacting protein, TUBB2A, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
rev Rev acts to depolymerize microtubules that are formed by tubulin, an effect that is observed during HIV-1 infection PubMed
Tat tat HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type PubMed
tat In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex PubMed
tat HIV-1 Tat (specifically, amino acids 38-72), enhances tubulin polymerization and triggers the mitochondrial pathway to induce T cell apoptosis as shown in vitro by the release of cytochrome c from isolated mitochondria PubMed
tat HIV-1 Tat (amino acids 36-39) binds tubulin alpha/beta dimers and polymerized microtubules leading to the alteration of microtubule dynamics and activation of a mitochondria-dependent apoptotic pathway that is facilitated by the Bcl-2 relative Bim PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • dJ40E16.7

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular vesicle HDA PubMed 
located_in intercellular bridge IDA
Inferred from Direct Assay
more info
 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in microtubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
 
located_in nucleus HDA PubMed 

General protein information

Preferred Names
tubulin beta-2A chain
Names
class IIa beta-tubulin
tubulin, beta 2A
tubulin, beta polypeptide 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042223.1 RefSeqGene

    Range
    5006..8884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001069.3NP_001060.1  tubulin beta-2A chain isoform 1

    See identical proteins and their annotated locations for NP_001060.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL031963, AL038778, X79535
    Consensus CDS
    CCDS4484.1
    UniProtKB/Swiss-Prot
    Q13885, Q6FGZ8, Q8IWR2
    UniProtKB/TrEMBL
    B2R6L0
    Related
    ENSP00000369703.2, ENST00000333628.4
    Conserved Domains (1) summary
    PLN00220
    Location:1430
    PLN00220; tubulin beta chain; Provisional
  2. NM_001310315.2NP_001297244.1  tubulin beta-2A chain isoform 2

    See identical proteins and their annotated locations for NP_001297244.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of the last exon and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    BC018780, BM846690, BP381259
    UniProtKB/TrEMBL
    O43209
    Conserved Domains (1) summary
    PLN00220
    Location:2345
    PLN00220; tubulin beta chain; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    3153666..3157544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    3020886..3024765 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)