Aliases for TUBA4A Gene
Aliases for TUBA4A Gene
External Ids for TUBA4A Gene
- HGNC: 12407
- Entrez Gene: 7277
- Ensembl: ENSG00000127824
- OMIM: 191110
- UniProtKB: P68366
Previous HGNC Symbols for TUBA4A Gene
- TUBA1
Previous GeneCards Identifiers for TUBA4A Gene
- GC02M219823
- GC02M220114
- GC02M211967
Summaries for TUBA4A 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 six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
GeneCards Summary for TUBA4A Gene
TUBA4A (Tubulin Alpha 4a) is a Protein Coding gene. Diseases associated with TUBA4A include Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia and Robinow Syndrome, Autosomal Dominant 3. Among its related pathways are Development Slit-Robo signaling and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA1A.
UniProtKB/Swiss-Prot for TUBA4A 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.
-
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 TUBA4A Gene
- Monarch Initiative
- Search for TUBA4A at DataMed
- Search for TUBA4A at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA4A Gene
Genomics for TUBA4A Gene
GeneHancer (GH) Regulatory Elements for TUBA4A Gene
Promoters and enhancers for TUBA4A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TUBA4A on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TUBA4A gene promoter:
-
- E2F
- PPAR-gamma2
- Sp1
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- Evi-1
Regulatory Element Products
Genomic Locations for TUBA4A Gene
Genomic Locations for TUBA4A Gene
- chr2:219,249,711-219,278,170
- (GRCh38/hg38)
- Size:
- 28,460 bases
- Orientation:
- Minus strand
- chr2:220,114,433-220,142,892
- (GRCh37/hg19)
- Size:
- 28,460 bases
- Orientation:
- Minus strand
Genomic View for TUBA4A Gene
Genes around TUBA4A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q35 by Entrez Gene
- 2q35 by HGNC
- 2q35 by Ensembl
TUBA4A 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 TUBA4A Gene
Proteins for TUBA4A Gene
-
Protein details for TUBA4A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P68366-TBA4A_HUMAN
- Recommended name:
- Tubulin alpha-4A chain
- Protein Accession:
- P68366
- A8MUB1
- B3KNQ6
- P05215
Protein attributes for TUBA4A Gene
- Size:
- 448 amino acids
- Molecular mass:
- 49924 Da
- Quaternary structure:
-
- 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. Interacts with CFAP157 (By similarity).
- Miscellaneous:
-
- This tubulin does not have a C-terminal tyrosine.
Protein Expression for TUBA4A Gene
Post-translational modifications for TUBA4A Gene
- 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).
- 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).
- Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.
- Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.
- Ubiquitination at isoforms=2326
- Modification sites at PhosphoSitePlus
Other Protein References for TUBA4A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TUBA4A
- Novus Biologicals Antibodies for TUBA4A
- Invitrogen Antibodies for TUBA4A
- GeneTex TUBA4A Antibody for TUBA4A
-
Boster Bio Antibodies for TUBA4A
-
Santa Cruz Biotechnology (SCBT) Antibodies for TUBA4A
- Sino Biological Antibodies for TUBA4A
Protein Products
-
OriGene Purified Proteins for TUBA4A
- Search Origene for MassSpec and Protein Over-expression Lysates for TUBA4A
- Origene Custom Protein Services for TUBA4A
- Search GeneTex for Proteins for TUBA4A
Assay Products
No data available for DME Specific Peptides for TUBA4A Gene
Domains & Families for TUBA4A Gene
Gene Families for TUBA4A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for TUBA4A Gene
Suggested Antigen Peptide Sequences for TUBA4A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P68366- Family:
-
- Belongs to the tubulin family.
Function for TUBA4A Gene
Molecular function for TUBA4A 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.
Phenotypes From GWAS Catalog for TUBA4A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003924 | GTPase activity | IEA | -- |
| GO:0005200 | structural constituent of cytoskeleton | IEA | -- |
| GO:0005515 | protein binding | IPI | 16455083 |
| GO:0005525 | GTP binding | IEA | -- |
Phenotypes for TUBA4A Gene
- GenomeRNAi human phenotypes for TUBA4A:
-
- Increased G1 DNA content
- Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TUBA4A
-
CRISPR Products
-
OriGene CRISPR knockouts for TUBA4A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TUBA4A
- genomics-online: gRNA clones - Search results for 142 available TUBA4A gene related products
- Overview of 142 available TUBA4A gene related products
- Applied Biological Materials CRISPR for TUBA4A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TUBA4A
- GenScript: Design CRISPR guide RNA sequences for TUBA4A
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TUBA4A
- Browse OriGene Inhibitory RNA Products For TUBA4A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBA4A
- genomics-online: shRNA clones - Search results for 142 available TUBA4A gene related products
- Overview of 142 available TUBA4A gene related products
Clone Products
- Sino Biological Human cDNA Clone for TUBA4A
- VectorBuilder custom plasmid, inducible vectors for TUBA4A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TUBA4A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TUBA4A
- Applied Biological Materials Clones for TUBA4A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TUBA4A
No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TUBA4A Gene
Localization for TUBA4A Gene
Subcellular locations from UniProtKB/Swiss-Prot for TUBA4A Gene
- Cytoplasm, cytoskeleton.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
- Microtubules (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005737 | cytoplasm | IBA,IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IDA | 24327345 |
| GO:0005874 | microtubule | IEA,IDA | 21525035 |
Pathways & Interactions for TUBA4A Gene
Pathways by source for TUBA4A Gene
2 BioSystems pathways for TUBA4A Gene
24 Reactome pathways for TUBA4A Gene
5 KEGG pathways for TUBA4A Gene
10 GeneGo (Thomson Reuters) pathways for TUBA4A Gene
Interacting Proteins for TUBA4A Gene
Selected Interacting proteins:
P68366-TBA4A_HUMAN
ENSP00000248437
for TUBA4A Gene via
IID
MINT
UniProtKB
STRING
GPS-Prot Interaction Network for TUBA4A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000086 | G2/M transition of mitotic cell cycle | TAS | -- |
| GO:0000226 | microtubule cytoskeleton organization | IBA | -- |
| GO:0000278 | mitotic cell cycle | IBA | -- |
| GO:0002576 | platelet degranulation | TAS | -- |
| GO:0007010 | cytoskeleton organization | IEA | -- |
Drugs & Compounds for TUBA4A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Cabazitaxel | Approved | Pharma | inhibitor, Target, binder | 0 | ||
| Vincristine | Approved, Investigational | Pharma | binder, Target, inhibitor | Microtubule disrupter,antitumor agent | 965 | |
| Podofilox | Approved | Pharma | Target, inhibitor | 0 | ||
| Colchicine | Approved | Pharma | Antagonist | Tubulin Inhibitor | 118 | |
| Griseofulvin | Approved, Investigational, Vet_approved | Pharma | 6 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Noscapine hydrochloride |
|
912-60-7 |
|
|
(5) Tocris Compounds for TUBA4A 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 |
(11) ApexBio Compounds for TUBA4A Gene
| Compound | Action | Cas Number |
|---|---|---|
| Cabazitaxel | 183133-96-2 | |
| CK-636 | Arp2/3 complex inhibitor | 442632-72-6 |
| Colchicine | Tubulin Inhibitor | 64-86-8 |
| CYT997 (Lexibulin) | 917111-44-5 | |
| Epothilone A | Microtubule stabilizing macrolide | 152044-53-6 |
| Fosbretabulin (Combretastatin A4 Phosphate (CA4P)) Disodium | 168555-66-6 | |
| Griseofulvin | 126-07-8 | |
| INH6 | 1001753-24-7 | |
| MPC 6827 hydrochloride | Potent microtubule inhibitor | 917369-31-4 |
| Plinabulin (NPI-2358) | Tumor cell lines inhibitor | 714272-27-2 |
| Vinflunine Tartrate | 1201898-17-0 |
Transcripts for TUBA4A Gene
mRNA/cDNA for TUBA4A Gene
- (3) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (486) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000248437 2162 bps (uc002vkt.3)
- ENST00000392088 2499 bps (uc010zkz.2)
- ENST00000398989 615 bps (uc061sux.1)
- ENST00000425551 565 bps (uc061svd.1)
- ENST00000427737 940 bps (uc061suy.1)
Unigene Clusters for TUBA4A Gene
- Tubulin, alpha 4a:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TUBA4A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TUBA4A
- genomics-online: gRNA clones - Search results for 142 available TUBA4A gene related products
- Overview of 142 available TUBA4A gene related products
- Applied Biological Materials CRISPR for TUBA4A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TUBA4A
- GenScript: Design CRISPR guide RNA sequences for TUBA4A
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TUBA4A
- Browse OriGene Inhibitory RNA Products For TUBA4A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBA4A
- genomics-online: shRNA clones - Search results for 142 available TUBA4A gene related products
- Overview of 142 available TUBA4A gene related products
Clone Products
- Sino Biological Human cDNA Clone for TUBA4A
- VectorBuilder custom plasmid, inducible vectors for TUBA4A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TUBA4A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TUBA4A
- Applied Biological Materials Clones for TUBA4A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||
| SP2: | |||||||||||||||
| SP3: |
Expression for TUBA4A Gene
mRNA differential expression in normal tissues according to GTEx for TUBA4A Gene
This gene is overexpressed in Whole Blood (x9.1) and Muscle - Skeletal (x6.3).
This gene is overexpressed in Platelet (14.5), Brain (11.8), and Frontal cortex (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUBA4A Gene
NURSA nuclear receptor signaling pathways regulating expression of TUBA4A Gene:
TUBA4ASOURCE GeneReport for Unigene cluster for TUBA4A Gene:
Hs.75318Evidence on tissue expression from TISSUES for TUBA4A Gene
- Nervous system(5)
- Blood(4.4)
- Liver(4.4)
- Lung(4.4)
- Muscle(3.4)
- Intestine(2.7)
- Stomach(2.7)
- Heart(2.6)
- Skin(2.6)
- Kidney(2.3)
- Bone marrow(2)
Primer Products
-
OriGene qPCR primer pairs and template standards for TUBA4A
-
OriGene qPCR primer pairs for TUBA4A
- genomics-online: primer clones - Search results for 142 available TUBA4A gene related products
- Overview of 142 available TUBA4A gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBA4A Gene
Orthologs for TUBA4A Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| oppossum (Monodelphis domestica) |
Mammalia | TUBA4A 34 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | TUBA4A 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TUBA4A 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TUBA4A 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Tuba4a 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tuba4a 33 |
|
||
| chicken (Gallus gallus) |
Aves | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| LOC100857214 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tuba4b 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tuba8l2 34 |
|
OneToOne | |
| tuba8l3 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | alphaTub85E 34 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | mec-12 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TUB1 36 |
|
|
|
| soybean (Glycine max) |
eudicotyledons | Gma.16674 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os.21762 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU09132 33 |
|
- Species where no ortholog for TUBA4A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- 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)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- 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)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for TUBA4A Gene
- ENSEMBL:
- Gene Tree for TUBA4A (if available)
- TreeFam:
- Gene Tree for TUBA4A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TUBA4A: view image
Paralogs for TUBA4A Gene
(29) SIMAP similar genes for TUBA4A Gene using alignment to 7 proteins:
- TBA4A_HUMAN
- A8MUB1_HUMAN
- C9JDL2_HUMAN
- C9JDS9_HUMAN
- C9JEV8_HUMAN
- C9JJQ8_HUMAN
- C9JQ00_HUMAN
Pseudogenes.org Pseudogenes for TUBA4A Gene
Variants for TUBA4A Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs368743618 | pathogenic, Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] | 219,250,552(-) | C/T | coding_sequence_variant, missense_variant | |
| rs730880025 | pathogenic, Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] | 219,250,741(-) | G/A | coding_sequence_variant, missense_variant | |
| rs730880026 | pathogenic, Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] | 219,250,740(-) | C/T | coding_sequence_variant, missense_variant | |
| rs730880027 | pathogenic, Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | 219,250,479(-) | C/T | coding_sequence_variant, stop_gained | |
| rs730880028 | pathogenic, Amyotrophic lateral sclerosis 22 with frontotemporal dementia, Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] | 219,251,056(-) | G/A | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.13;
2.98% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TUBA4A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA4A Gene
Disorders for TUBA4A Gene
(9) MalaCards diseases for TUBA4A Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| amyotrophic lateral sclerosis 22 with or without frontotemporal dementia |
|
|
| robinow syndrome, autosomal dominant 3 |
|
|
| robinow syndrome, autosomal dominant 1 |
|
|
| frontotemporal dementia |
|
|
| robinow syndrome, autosomal dominant 2 |
|
|
Search TUBA4A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TBA4A_HUMAN- Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS22 may develop frontotemporal dementia. {ECO:0000269 PubMed:25374358}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TUBA4A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TUBA4A Gene
Publications for TUBA4A Gene
- Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. (PMID: 25374358) Smith BN … Landers JE (Neuron 2014) 3 4 58
- The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 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
- Alternative 5' exons either provide or deny an initiator methionine codon to the same alpha-tubulin coding region. (PMID: 3029670) Dobner PR … Villa-Komaroff L (Nucleic acids research 1987) 3 4 58
Products for TUBA4A Gene
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- antibodies-online: Search results for 75 available TUBA4A Antibodies ranked by validation data
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- Boster Bio Antibodies for TUBA4A
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Sources for TUBA4A 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
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- (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
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- (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
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- (114) diseasecard
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- (133) ENCODE
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- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
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- (160) Aminode
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- (169) Biorbyt