This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011] See more...

Aliases for TUBA3D Gene

Aliases for TUBA3D Gene

  • Tubulin Alpha 3d 2 3 5
  • Alpha-Tubulin Isotype H2-Alpha 2 3
  • Tubulin Alpha-3D Chain 3 4
  • Alpha-Tubulin 3D 3 4
  • H2-ALPHA 2 3
  • Tubulin Alpha-3C/D Chain 3
  • Tubulin Alpha-3C Chain 3
  • Tubulin Alpha-2 Chain 3
  • Alpha-Tubulin 3C 3
  • TUBA3D 5
  • KTCN9 3
  • TUBA2 3

External Ids for TUBA3D Gene

Previous GeneCards Identifiers for TUBA3D Gene

  • GC02P131952
  • GC02P132233
  • GC02P124227
  • GC02P131480
  • GC02P131495
  • GC02P131816
  • GC02P131892
  • GC02P131836
  • GC02P132466
  • GC02P131531
  • GC02P131549
  • GC02P131562
  • GC02P131597
  • GC02P131618
  • GC02P131669
  • GC02P131719
  • GC02P131765
  • GC02P132753
  • GC02P133057

Summaries for TUBA3D Gene

Entrez Gene Summary for TUBA3D Gene

  • This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011]

GeneCards Summary for TUBA3D Gene

TUBA3D (Tubulin Alpha 3d) is a Protein Coding gene. Diseases associated with TUBA3D include Keratoconus 9 and Keratoconus. Among its related pathways are Apoptosis Modulation and Signaling and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA3C.

UniProtKB/Swiss-Prot Summary for TUBA3D 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 TUBA3D 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 (+).

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBA3D Gene

Genomics for TUBA3D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TUBA3D 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
GH02J131476 Promoter 0.5 EPDnew 250.7 0.0 -19 0.1 ZBTB33 USF1 TUBA3D MZT2A lnc-RAB6D-3 RAB6D
GH02J131036 Enhancer 0.4 FANTOM5 dbSUPER 16 -439.9 -439867 0.2 HSALNG0018856 SMIM39 TUBA3D ARHGEF4 AMER3 HSALNG0018857 FAM168B
GH02J131479 Enhancer 0.2 dbSUPER 14.6 +3.3 3324 0.4 MZT2A TUBA3D MIR4784
GH02J131490 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 +16.9 16882 4.8 SP1 ZNF207 NCOR1 MYC ZNF580 ZNF592 ATF2 ZNF223 ZNF10 BRCA1 SMPD4BP MZT2A HSALNG0018894 MIR4784 lnc-RAB6D-1 lnc-TUBA3D-1 ENSG00000272769 TUBA3D
GH02J131471 Enhancer 0.5 Ensembl 0.7 -4.3 -4290 0.7 NFIC ZIC2 ZNF316 ATF1 ZNF423 NR2F1 ZBTB44 lnc-RAB6D-3 MZT2A TUBA3D lnc-MZT2A-1 RAB6D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBA3D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBA3D

Top Transcription factor binding sites by QIAGEN in the TUBA3D gene promoter:
  • AML1a
  • Arnt
  • CUTL1
  • E47
  • NRSF form 1
  • NRSF form 2
  • RORalpha1
  • Sox5
  • Sp1
  • XBP-1

Genomic Locations for TUBA3D Gene

Latest Assembly
chr2:131,476,119-131,482,934
(GRCh38/hg38)
Size:
6,816 bases
Orientation:
Plus strand

Previous Assembly
chr2:132,233,692-132,240,507
(GRCh37/hg19 by Entrez Gene)
Size:
6,816 bases
Orientation:
Plus strand

chr2:132,233,666-132,240,507
(GRCh37/hg19 by Ensembl)
Size:
6,842 bases
Orientation:
Plus strand

Genomic View for TUBA3D Gene

Genes around TUBA3D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBA3D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBA3D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBA3D Gene

Proteins for TUBA3D Gene

  • Protein details for TUBA3D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DPH8-TBA3D_HUMAN
    Recommended name:
    Tubulin alpha-3D chain
    Protein Accession:
    P0DPH8
    Secondary Accessions:
    • A6NJQ0
    • Q13748
    • Q5W099
    • Q6PEY3
    • Q96F18

    Protein attributes for TUBA3D Gene

    Size:
    450 amino acids
    Molecular mass:
    49960 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.

neXtProt entry for TUBA3D Gene

Post-translational modifications for TUBA3D 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.
  • Nitration of Tyr-450 is irreversible and interferes with normal dynein intracellular distribution.
  • Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (VASH1 or VASH2) and tubulin tyrosine ligase (TTL), respectively.
  • [Tubulin alpha-3D chain]: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1 (By similarity). Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (By similarity).
  • [Detyrosinated tubulin alpha-3D chain]: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity).

Other Protein References for TUBA3D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBA3D Gene

Domains & Families for TUBA3D Gene

Gene Families for TUBA3D Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TUBA3D Gene

GenScript: Design optimal peptide antigens:
  • Tubulin alpha-2 chain (TBA3C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0DPH8

UniProtKB/Swiss-Prot:

TBA3D_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBA3D: view

Function for TUBA3D Gene

Molecular function for TUBA3D 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.

Gene Ontology (GO) - Molecular Function for TUBA3D 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 IBA 21873635
GO:0005525 GTP binding IBA 21873635
genes like me logo Genes that share ontologies with TUBA3D: view
genes like me logo Genes that share phenotypes with TUBA3D: view

Human Phenotype Ontology for TUBA3D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for TUBA3D Gene

miRTarBase miRNAs that target TUBA3D

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBA3D

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBA3D Gene

Localization for TUBA3D Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA3D 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 TUBA3D gene
Compartment Confidence
cytoskeleton 5
nucleus 4
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TUBA3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IBA 21873635
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with TUBA3D: view

Pathways & Interactions for TUBA3D Gene

genes like me logo Genes that share pathways with TUBA3D: view

Pathways by source for TUBA3D Gene

10 GeneGo (Thomson Reuters) pathways for TUBA3D 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

Gene Ontology (GO) - Biological Process for TUBA3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0000278 mitotic cell cycle IBA 21873635
GO:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
genes like me logo Genes that share ontologies with TUBA3D: view

No data available for SIGNOR curated interactions for TUBA3D Gene

Drugs & Compounds for TUBA3D Gene

(3) Drugs for TUBA3D Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nocodazole Experimental Pharma Tubulin production inhibitor,anti-neoplastic agent, Microtubule inhibitor 0
MPC 6827 hydrochloride Pharma Potent microtubule inhibitor, Inhibitor of microtubule polymerization; antimitotic and antitumor 0
Vinblastine sulfate Pharma Anti-mitotic agent, Disrupts microtubules 0

(2) Additional Compounds for TUBA3D Gene - From: Tocris

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

(5) Tocris Compounds for TUBA3D 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
genes like me logo Genes that share compounds with TUBA3D: view

Transcripts for TUBA3D Gene

mRNA/cDNA for TUBA3D Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBA3D

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA3D Gene

No ASD Table

Relevant External Links for TUBA3D Gene

GeneLoc Exon Structure for
TUBA3D

Expression for TUBA3D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBA3D Gene

mRNA differential expression in normal tissues according to GTEx for TUBA3D Gene

This gene is overexpressed in Testis (x29.8) and Heart - Left Ventricle (x15.4).

Protein differential expression in normal tissues from HIPED for TUBA3D Gene

This gene is overexpressed in Brain (54.1) and Lung (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUBA3D Gene



Protein tissue co-expression partners for TUBA3D Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUBA3D

SOURCE GeneReport for Unigene cluster for TUBA3D Gene:

Hs.503749

mRNA Expression by UniProt/SwissProt for TUBA3D Gene:

P0DPH8-TBA3D_HUMAN
Tissue specificity: Expressed in the cornea, sclera, and peripheral blood (PubMed:29051577).

Evidence on tissue expression from TISSUES for TUBA3D Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with TUBA3D: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBA3D Gene

Orthologs for TUBA3D Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA3D Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia TUBA3D 30
  • 100 (a)
OneToOne
LOC100855995 29
  • 82.48 (n)
Mouse
(Mus musculus)
Mammalia Tuba3b 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia TUBA3E 29
  • 98.67 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 95 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 95 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia TUBA1D 29 30
  • 85.91 (n)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 99 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 100 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100490289 29
  • 84.7 (n)
Zebrafish
(Danio rerio)
Actinopterygii tuba7l 30
  • 94 (a)
OneToMany
tuba1l 29
  • 83.86 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta alphaTub84D 30
  • 97 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea tba-1 30
  • 86 (a)
ManyToMany
tba-5 30
  • 83 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 30
  • 74 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TUA5 29
  • 71.31 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0574800 29
  • 75.04 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11340 30
  • 98 (a)
OneToMany
Species where no ortholog for TUBA3D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Bread mold (Neurospora crassa)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for TUBA3D Gene

ENSEMBL:
Gene Tree for TUBA3D (if available)
TreeFam:
Gene Tree for TUBA3D (if available)
Alliance of Genome Resources:
Additional Orthologs for TUBA3D

Paralogs for TUBA3D Gene

Pseudogenes.org Pseudogenes for TUBA3D Gene

genes like me logo Genes that share paralogs with TUBA3D: view

Variants for TUBA3D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBA3D Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs139782017 Benign: not provided 131,482,617(+) C/T
NM_080386.4(TUBA3D):c.1122C>T (p.Ala374=)
SYNONYMOUS
rs147030351 Likely Benign: not provided 131,482,759(+) C/T
NM_080386.4(TUBA3D):c.1264C>T (p.Arg422Cys)
MISSENSE
rs148497877 Benign: not provided 131,479,422(+) T/A
NM_080386.4(TUBA3D):c.341T>A (p.Ile114Asn)
MISSENSE
rs1553500862 Pathogenic: Keratoconus 9 131,478,191(+) C/T
NM_080386.4(TUBA3D):c.31C>T (p.Gln11Ter)
NONSENSE
rs2695519 Likely Benign: not provided 131,478,155(+) T/G
NM_080386.4(TUBA3D):c.4-9T>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TUBA3D Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TUBA3D Gene

Variant ID Type Subtype PubMed ID
dgv4075n100 CNV gain 25217958
dgv4077n100 CNV gain 25217958
dgv4079n100 CNV loss 25217958
dgv4080n100 CNV gain 25217958
dgv476n27 CNV loss 19166990
esv2670824 CNV deletion 23128226
esv2759092 CNV gain+loss 17122850
esv2760576 CNV gain+loss 21179565
esv34412 CNV gain 17911159
esv34704 CNV gain 17911159
esv3575300 CNV gain 25503493
esv3584079 CNV loss 25503493
esv3592483 CNV loss 21293372
esv3592484 CNV gain 21293372
esv3893359 CNV gain+loss 25118596
nsv1002963 CNV gain 25217958
nsv1006738 CNV gain 25217958
nsv1008539 CNV gain 25217958
nsv1014682 CNV loss 25217958
nsv10183 CNV loss 18304495
nsv428404 CNV loss 18775914
nsv459396 CNV gain 19166990
nsv470486 CNV loss 18288195
nsv520930 CNV gain 19592680
nsv524021 CNV loss 19592680
nsv583140 CNV gain 21841781
nsv583142 CNV loss 21841781
nsv583143 CNV gain+loss 21841781
nsv583145 CNV loss 21841781
nsv7327 OTHER inversion 18451855
nsv818082 CNV gain 17921354
nsv834376 CNV gain 17160897
nsv979124 CNV duplication 23825009
nsv997248 CNV loss 25217958

Variation tolerance for TUBA3D Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBA3D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBA3D
Leiden Open Variation Database (LOVD)
TUBA3D

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA3D Gene

Disorders for TUBA3D Gene

MalaCards: The human disease database

(10) MalaCards diseases for TUBA3D Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
keratoconus 9
  • ktcn9
keratoconus
  • conical cornea
corneal ectasia
retinitis pigmentosa 18
  • rp18
cataract 36
  • ctrct36
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBA3D_HUMAN
  • Keratoconus 9 (KTCN9) [MIM:617928]: An autosomal dominant form of keratoconus, a common degenerative corneal disease characterized by progressive, non-inflammatory thinning of the corneal stroma, corneal ectasia, and cone-shaped corneal protrusion that results in reduced vision. {ECO:0000269 PubMed:29051577}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TUBA3D

genes like me logo Genes that share disorders with TUBA3D: view

No data available for Genatlas for TUBA3D Gene

Publications for TUBA3D Gene

  1. De novo mutations of TUBA3D are associated with keratoconus. (PMID: 29051577) Hao XD … Gao H (Scientific reports 2017) 3 4 72
  2. Six mouse alpha-tubulin mRNAs encode five distinct isotypes: testis-specific expression of two sister genes. (PMID: 3785200) Villasante A … Cowan NJ (Molecular and cellular biology 1986) 2 3
  3. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3
  4. Vasohibins encode tubulin detyrosinating activity. (PMID: 29146869) Nieuwenhuis J … Brummelkamp TR (Science (New York, N.Y.) 2017) 4
  5. F-Box Protein FBXO22 Mediates Polyubiquitination and Degradation of CD147 to Reverse Cisplatin Resistance of Tumor Cells. (PMID: 28117675) Wu B … Jiang JL (International journal of molecular sciences 2017) 3

Products for TUBA3D Gene

Sources for TUBA3D Gene