TUBA4A Gene (Protein Coding)

Tubulin Alpha 4a

GC02M219249
GIFtS:
45
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 tu... See more...

Aliases for TUBA4A Gene

Aliases for TUBA4A Gene

  • Tubulin Alpha 4a 2 3 5
  • Tubulin, Alpha 1 (Testis Specific) 2 3
  • Tubulin Alpha-4A Chain 3 4
  • Tubulin Alpha-1 Chain 3 4
  • Tubulin H2-Alpha 3 4
  • TUBA1 3 4
  • Testis-Specific Alpha-Tubulin 4
  • Tubulin, Alpha 1 2
  • Alpha-Tubulin 1 4
  • H2-ALPHA 3
  • ALS22 3

External Ids for TUBA4A Gene

Previous HGNC Symbols for TUBA4A Gene

  • TUBA1

Previous GeneCards Identifiers for TUBA4A Gene

  • GC02M219823
  • GC02M220114
  • GC02M211967

Summaries for TUBA4A Gene

Entrez Gene Summary 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 Tinea Favosa. Among its related pathways are ERK Signaling and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA1B.

UniProtKB/Swiss-Prot Summary 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.

Tocris Summary for TUBA4A Gene

  • 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 (+).

Gene Wiki entry for TUBA4A Gene

Additional gene information for TUBA4A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBA4A Gene

Genomics for TUBA4A Gene

GeneHancer (GH) Regulatory Elements for TUBA4A Gene

Promoters and enhancers for TUBA4A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J219244 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 512.6 +28.1 28059 11.3 EP300 RXRA ZBTB40 ZNF217 TCF12 SIN3A MYC NRF1 USF1 POLR2G GLB1L TUBA4A STK16 ZFAND2B ANKZF1 ATG9A DNAJB2 MIR153-1 PTPRN ENSG00000230432
GH02J219277 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -1.5 -1529 4.6 HNRNPK ZBTB40 ZNF217 EP300 CTCF ZSCAN5C TCF12 SIN3A NRF1 POLR2G DNAJB2 HSALNG0022361 TUBA4A piR-54823 PTPRN OBSL1 ENSG00000269068 GLB1L TUBA4B
GH02J219121 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 10.1 +152.9 152931 7.5 FOXK2 ZNF217 USF1 FOS TRIM28 HES1 CUX1 SKI TEAD1 TBX3 lnc-IHH-1 SLC23A3 NHEJ1 IHH LOC100129175 MIR375 FEV CRYBA2 LINC00608 CNPPD1
GH02J219362 Enhancer 0.9 Ensembl ENCODE 10.5 -84.6 -84631 1.6 JUND FOS ZIC2 OSR2 TCF12 ZNF184 FOSL2 POLR2A ZFHX2 BATF RESP18 PTPRN MIR153-1 DNAJB2 TUBA4A TUBA4B SPEG ENSG00000232789 LOC105373883
GH02J219149 Enhancer 0.6 Ensembl 10.5 +128.3 128269 0.2 SKI FOXA2 NR2F2 ZBTB33 JUND SMAD4 RAD21 RXRA MAX HNF4A NHEJ1 IHH CNPPD1 RETREG2 ZFAND2B ANKZF1 ATG9A CRYBA2 FEV LINC00608
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBA4A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBA4A

Top Transcription factor binding sites by QIAGEN in the TUBA4A gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Evi-1
  • PPAR-gamma2
  • Sp1

Genomic Locations for TUBA4A Gene

Genomic Locations for TUBA4A Gene
chr2:219,249,710-219,278,170
(GRCh38/hg38)
Size:
28,461 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:
TUBA4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBA4A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TUBA4A Gene

Proteins for TUBA4A Gene

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  • Protein details for TUBA4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68366-TBA4A_HUMAN
    Recommended name:
    Tubulin alpha-4A chain
    Protein Accession:
    P68366
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for TUBA4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBA4A Gene

Protein Expression for TUBA4A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Lys326
  • Modification sites at PhosphoSitePlus

Other Protein References for TUBA4A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TUBA4A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58687, highly similar to Tubulin alpha-4 chain (A8MUB1_HUMAN)
  • Tubulin alpha-1 (Q6QMJ5_HUMAN)
  • Tubulin alpha-1 chain (TBA4A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P68366

UniProtKB/Swiss-Prot:

TBA4A_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBA4A: view

Function for TUBA4A Gene

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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

Gene Ontology (GO) - Molecular Function 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,IBA 21873635
GO:0005515 protein binding IPI 16455083
GO:0005525 GTP binding IBA,IEA 21873635
genes like me logo Genes that share ontologies with TUBA4A: view
genes like me logo Genes that share phenotypes with TUBA4A: view

Human Phenotype Ontology for TUBA4A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TUBA4A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 4
nucleus 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TUBA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IDA 24327345
GO:0005874 microtubule IDA,IEA 21525035
genes like me logo Genes that share ontologies with TUBA4A: view

Pathways & Interactions for TUBA4A Gene

genes like me logo Genes that share pathways with TUBA4A: view

Pathways by source for TUBA4A Gene

10 GeneGo (Thomson Reuters) pathways for TUBA4A Gene
  • Cell adhesion Gap junctions
  • Cell cycle_Spindle assembly and chromosome separation
  • Cytoskeleton remodeling Keratin filaments
  • Cytoskeleton remodeling Neurofilaments
  • Cytoskeleton remodeling Reverse signaling by ephrin B
11 Qiagen pathways for TUBA4A Gene
  • 14-3-3 Induced Intracellular Signaling
  • Breast Cancer Regulation by Stathmin1
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics

SIGNOR curated interactions for TUBA4A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TUBA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0000278 mitotic cell cycle IBA 21873635
GO:0002576 platelet degranulation TAS --
GO:0007010 cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with TUBA4A: view

Drugs & Compounds for TUBA4A Gene

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(20) Drugs for TUBA4A Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Tocris

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 1058
Podofilox Approved Pharma Target, inhibitor 0
Colchicine Approved Pharma Antagonist Tubulin Inhibitor 137
Griseofulvin Approved, Investigational, Vet_approved Pharma 6

(2) Additional Compounds for TUBA4A Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Noscapine hydrochloride
912-60-7
taxol
Agonist 33069-62-4

(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
genes like me logo Genes that share compounds with TUBA4A: view

Drug Products

Transcripts for TUBA4A Gene

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mRNA/cDNA for TUBA4A Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA4A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b
SP1: -
SP2:
SP3:

Relevant External Links for TUBA4A Gene

GeneLoc Exon Structure for
TUBA4A

Expression for TUBA4A Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBA4A Gene

mRNA expression in normal human tissues for TUBA4A Gene
mRNA expression by GTEx for TUBA4A GenemRNA expression by BioGPS 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).

Protein differential expression in normal tissues from HIPED for TUBA4A Gene

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



Protein tissue co-expression partners for TUBA4A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUBA4A

SOURCE GeneReport for Unigene cluster for TUBA4A Gene:

Hs.75318

Evidence 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)
genes like me logo Genes that share expression patterns with TUBA4A: view

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.

Orthologs for TUBA4A Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
 Mammalia TUBA4A 31
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia TUBA4A 31 30
  • 99.85 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia TUBA4A 31 30
  • 94.35 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia TUBA4A 31 30
  • 93.01 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tuba4a 17 31 30
  • 92.56 (n)
rat
(Rattus norvegicus)
 Mammalia Tuba4a 30
  • 92.19 (n)
chicken
(Gallus gallus)
 Aves -- 31
  • 95 (a)
 OneToMany
-- 31
  • 92 (a)
 OneToMany
LOC100857214 30
  • 86.53 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 97 (a)
 OneToMany
-- 31
  • 97 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia tuba4b 30
  • 84.9 (n)
zebrafish
(Danio rerio)
 Actinopterygii tuba8l2 31
  • 94 (a)
 OneToOne
tuba8l3 30
  • 81.55 (n)
fruit fly
(Drosophila melanogaster)
 Insecta alphaTub85E 31
  • 94 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea mec-12 31
  • 91 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TUB1 33
soybean
(Glycine max)
 eudicotyledons Gma.16674 30
rice
(Oryza sativa)
 Liliopsida Os.21762 30
bread mold
(Neurospora crassa)
 Ascomycetes NCU09132 30
  • 67.95 (n)
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

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

genes like me logo Genes that share paralogs with TUBA4A: view

Variants for TUBA4A Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBA4A Gene

SNP ID Clinical significance and condition 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/Tp.Ala383Thr 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/Ap.Arg320Cys 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/Tp.Arg320His MISSENSE_VARIANT
rs730880027 Pathogenic: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 219,250,479(-) C/T NONSENSE
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/Ap.Arg215Cys MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TUBA4A Gene

Structural Variations from Database of Genomic Variants (DGV) for TUBA4A Gene

Variant ID Type Subtype PubMed ID
esv3893555 CNV loss 25118596
nsv508885 CNV insertion 20534489
nsv834543 CNV loss 17160897
nsv954842 CNV deletion 24416366
nsv963775 CNV duplication 23825009

Variation tolerance for TUBA4A Gene

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

Human Gene Mutation Database (HGMD)
TUBA4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBA4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA4A Gene

Disorders for TUBA4A Gene

MalaCards: The human disease database

(13) MalaCards diseases for TUBA4A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with TUBA4A: view

No data available for Genatlas for TUBA4A Gene

Publications for TUBA4A Gene

  1. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. (PMID: 25374358) Smith BN … Landers JE (Neuron 2014) 3 4 54
  2. 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 41 54
  3. 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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. 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 54

ExternalLinks

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