TUBA4A (tubulin alpha 4a)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7277
Gene name Gene Name - the full gene name approved by the HGNC.
Tubulin alpha 4a
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TUBA4A
Synonyms (NCBI Gene) Gene synonyms aliases
ALS22, CMYO26, FTDALS9, H2-ALPHA, OZEMA23, SPAX11, TUBA1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALS22
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q35
Summary Summary of gene provided in NCBI Entrez Gene.
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of si
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs730880028 G>A Pathogenic Missense variant, coding sequence variant
rs1574884336 CT>- Likely-pathogenic Frameshift variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle TAS
GO:0000226 Process Microtubule cytoskeleton organization IBA 21873635
GO:0000278 Process Mitotic cell cycle IBA 21873635
GO:0002576 Process Platelet degranulation TAS
GO:0003924 Function GTPase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191110 12407 ENSG00000127824
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P68366
Protein name Tubulin alpha-4A chain (EC 3.6.5.-) (Alpha-tubulin 1) (Testis-specific alpha-tubulin) (Tubulin H2-alpha) (Tubulin alpha-1 chain)
Protein function Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule en
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00091 Tubulin 3 → 214 Tubulin/FtsZ family, GTPase domain Domain
PF03953 Tubulin_C 263 → 393 Tubulin C-terminal domain Domain
Sequence
Sequence length 448
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Phagosome
Apoptosis
Tight junction
Gap junction
Motor proteins
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection 		  Platelet degranulation
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Recycling pathway of L1
Hedgehog 'off' state
Cilium Assembly
Anchoring of the basal body to the plasma membrane
Intraflagellar transport
RHO GTPases activate IQGAPs
RHO GTPases Activate Formins
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
The role of GTSE1 in G2/M progression after G2 checkpoint
AURKA Activation by TPX2
Carboxyterminal post-translational modifications of tubulin
HCMV Early Events
Aggrephagy
EML4 and NUDC in mitotic spindle formation
Sealing of the nuclear envelope (NE) by ESCRT-III
Kinesins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Amyotrophic lateral sclerosis, with or without frontotemporal dementia AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 25374358, 25893256 ClinVar
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis type 22 GenCC
Macrothrombocytopenia autosomal dominant macrothrombocytopenia GenCC
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (30)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34684727, 38095634
Alzheimer Disease Associate 28069311
Amyotrophic Lateral Sclerosis Associate 25374348, 26675813, 28069311, 35327632, 36747013
Amyotrophic lateral sclerosis 1 Associate 36747013
Aphasia Primary Progressive Associate 35327632
Central Nervous System Cysts Associate 27562488
Cognition Disorders Associate 26675813, 28069311
Colitis Ulcerative Associate 32322884
Colorectal Neoplasms Associate 37241967
Colorectal Neoplasms Inhibit 39940785