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 TUBA3C Gene

Aliases for TUBA3C Gene

  • Tubulin Alpha 3c 2 3 5
  • Tubulin Alpha-3C Chain 3 4
  • Tubulin Alpha-2 Chain 3 4
  • Tubulin, Alpha 2 2 3
  • Alpha-Tubulin 3C 3 4
  • Alpha-Tubulin 2 3 4
  • BA408E5.3 2 3
  • TUBA2 3 4
  • Tubulin Alpha-3C/D Chain 3
  • Tubulin Alpha-3D Chain 3
  • Alpha-Tubulin 3C/D 3
  • Alpha-Tubulin 3D 3
  • TUBA3C 5

External Ids for TUBA3C Gene

Previous HGNC Symbols for TUBA3C Gene

  • TUBA2

Previous GeneCards Identifiers for TUBA3C Gene

  • GC13M018646
  • GC13M019747
  • GC13M000553

Summaries for TUBA3C Gene

Entrez Gene Summary for TUBA3C 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 is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for TUBA3C Gene

TUBA3C (Tubulin Alpha 3c) is a Protein Coding gene. Diseases associated with TUBA3C include Clouston Syndrome and Ectodermal Dysplasia. Among its related pathways are G-Beta Gamma Signaling and Apoptosis Modulation and Signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA3D.

UniProtKB/Swiss-Prot Summary for TUBA3C 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 TUBA3C 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 TUBA3C Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBA3C Gene

Genomics for TUBA3C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TUBA3C 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
GH13J019181 Promoter 0.6 EPDnew 250.7 +0.0 22 0.1 ZBTB33 NRF1 L3MBTL2 MGA E2F1 ENSG00000121388 LOC101928697 TUBA3C piR-61945-115
GH13J019284 Enhancer 0.2 FANTOM5 29.3 -103.0 -103047 0.1 TUBA3C piR-39858-132 piR-55600 ANKRD26P3 TPTE2
GH13J018993 Enhancer 0.5 ENCODE 0.1 +187.8 187769 0.3 RXRA ZBTB33 JUND HNF4A MAX HNF4G NR2F2 SP1 lnc-TUBA3C-11 lnc-MPHOSPH8-13 PHF2P2 TUBA3C
GH13J018992 Enhancer 0.4 Ensembl ENCODE 0.1 +188.9 188878 0.3 ATF4 lnc-TUBA3C-11 lnc-MPHOSPH8-13 PHF2P2 TUBA3C
GH13J019561 Promoter 0.8 EPDnew Ensembl 0 -379.7 -379677 0.6 ZBTB33 NR2C1 ESRRAP1 LINC00350 TPTE2 GOLM2P1 MRPS31P2 lnc-TPTE2-6 TUBA3C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBA3C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBA3C

Top Transcription factor binding sites by QIAGEN in the TUBA3C gene promoter:
  • AML1a
  • AREB6
  • Arnt
  • HOXA5
  • Pax-3
  • Sp1
  • SRF
  • SRF (504 AA)

Genomic Locations for TUBA3C Gene

Latest Assembly
chr13:19,173,772-19,181,824
(GRCh38/hg38)
Size:
8,053 bases
Orientation:
Minus strand

Previous Assembly
chr13:19,747,912-19,755,964
(GRCh37/hg19 by Entrez Gene)
Size:
8,053 bases
Orientation:
Minus strand

chr13:19,747,910-19,755,992
(GRCh37/hg19 by Ensembl)
Size:
8,083 bases
Orientation:
Minus strand

Genomic View for TUBA3C Gene

Genes around TUBA3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBA3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBA3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBA3C Gene

Proteins for TUBA3C Gene

  • Protein details for TUBA3C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DPH7-TBA3C_HUMAN
    Recommended name:
    Tubulin alpha-3C chain
    Protein Accession:
    P0DPH7
    Secondary Accessions:
    • A6NJQ0
    • Q13748
    • Q5W099
    • Q6PEY3
    • Q96F18

    Protein attributes for TUBA3C 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.

    Alternative splice isoforms for TUBA3C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBA3C Gene

Post-translational modifications for TUBA3C 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-3C 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-3C 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 TUBA3C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBA3C Gene

Domains & Families for TUBA3C Gene

Gene Families for TUBA3C Gene

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

Suggested Antigen Peptide Sequences for TUBA3C Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77591, highly similar to Homo sapiens tubulin, alpha 2 (TUBA2), transcript variant 1, mRNA (Q1ZYQ1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0DPH7

UniProtKB/Swiss-Prot:

TBA3C_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBA3C: view

Function for TUBA3C Gene

Molecular function for TUBA3C 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 TUBA3C Gene

Gene Ontology (GO) - Molecular Function for TUBA3C 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 TUBA3C: view
genes like me logo Genes that share phenotypes with TUBA3C: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBA3C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TUBA3C Gene

Localization for TUBA3C Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA3C 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 TUBA3C 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 TUBA3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
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 TUBA3C: view

Pathways & Interactions for TUBA3C Gene

genes like me logo Genes that share pathways with TUBA3C: view

Pathways by source for TUBA3C Gene

10 GeneGo (Thomson Reuters) pathways for TUBA3C 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 TUBA3C 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 TUBA3C Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TUBA3C 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 TUBA3C: view

Drugs & Compounds for TUBA3C Gene

(18) Drugs for TUBA3C Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
Cabazitaxel Approved Pharma 0
Colchicine Approved Pharma Tubulin Inhibitor 180
Griseofulvin Approved, Investigational, Vet_approved Pharma 7
Patupilone Experimental, Investigational Pharma Target 0

(2) Additional Compounds for TUBA3C 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 TUBA3C 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

(10) ApexBio Compounds for TUBA3C 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
genes like me logo Genes that share compounds with TUBA3C: view

Drug products for research

Transcripts for TUBA3C Gene

mRNA/cDNA for TUBA3C Gene

2 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 TUBA3C

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA3C Gene

No ASD Table

Relevant External Links for TUBA3C Gene

GeneLoc Exon Structure for
TUBA3C

Expression for TUBA3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBA3C Gene

mRNA differential expression in normal tissues according to GTEx for TUBA3C Gene

This gene is overexpressed in Testis (x52.6).

Protein differential expression in normal tissues from HIPED for TUBA3C Gene

This gene is overexpressed in Brain (54.0) and Lung (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUBA3C Gene



Protein tissue co-expression partners for TUBA3C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUBA3C

SOURCE GeneReport for Unigene cluster for TUBA3C Gene:

Hs.349695

mRNA Expression by UniProt/SwissProt for TUBA3C Gene:

P0DPH7-TBA3C_HUMAN
Tissue specificity: Expressed in testis.

Evidence on tissue expression from TISSUES for TUBA3C Gene

  • Skin(4.3)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with TUBA3C: 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 TUBA3C Gene

Orthologs for TUBA3C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA3C Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia TUBA3C 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia TUBA3C 30
  • 100 (a)
OneToOne
TUBA3E 29
  • 96 (n)
Cow
(Bos Taurus)
Mammalia TUBA3E 30
  • 100 (a)
OneToOne
TUBA1D 29
  • 85.98 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 100 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia LOC100855995 29
  • 82.33 (n)
-- 30
  • 77 (a)
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
  • 84.85 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch73-199e17.1 30
  • 88 (a)
ManyToMany
tuba4l 30
  • 87 (a)
ManyToMany
tuba1l 29
  • 83.56 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta alphaTub84B 30
  • 98 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea tba-2 30
  • 87 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 30
  • 74 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TUA5 29
  • 71.84 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0574800 29
  • 74.66 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11340 30
  • 98 (a)
OneToMany
Species where no ortholog for TUBA3C 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)
  • Mouse (Mus musculus)
  • 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 TUBA3C Gene

ENSEMBL:
Gene Tree for TUBA3C (if available)
TreeFam:
Gene Tree for TUBA3C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TUBA3C: view image
Alliance of Genome Resources:
Additional Orthologs for TUBA3C

Paralogs for TUBA3C Gene

Variants for TUBA3C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBA3C Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs17076703 -- p.Asp392Val
rs1803092 -- p.Val440Met
rs36215077 -- p.Val75Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TUBA3C 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 TUBA3C Gene

Variant ID Type Subtype PubMed ID
esv2663766 CNV deletion 23128226
esv2673339 CNV deletion 23128226
esv3250385 CNV deletion 24192839
esv3631379 CNV gain 21293372
esv3631380 CNV loss 21293372
esv3631381 CNV loss 21293372
esv3631382 CNV loss 21293372
nsv1053637 CNV gain 25217958
nsv455824 CNV loss 19166990
nsv455825 CNV loss 19166990
nsv482166 CNV gain 20164927
nsv515683 CNV loss 19592680
nsv523647 CNV loss 19592680
nsv528089 CNV loss 19592680
nsv561202 CNV loss 21841781
nsv561203 CNV loss 21841781
nsv826573 CNV loss 20364138
nsv983548 CNV duplication 23825009

Variation tolerance for TUBA3C Gene

Residual Variation Intolerance Score: 27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.99; 68.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBA3C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBA3C
Leiden Open Variation Database (LOVD)
TUBA3C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA3C Gene

Disorders for TUBA3C Gene

MalaCards: The human disease database

(7) MalaCards diseases for TUBA3C Gene - From: COP and GCD

Disorder Aliases PubMed IDs
clouston syndrome
  • ectodermal dysplasia 2, clouston type; ectd2
ectodermal dysplasia
  • congenital ectodermal defect
retinitis pigmentosa 18
  • rp18
cataract 36
  • ctrct36
dfnb1
  • connexin 26 deafness
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TUBA3C

genes like me logo Genes that share disorders with TUBA3C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TUBA3C Gene

Publications for TUBA3C Gene

  1. Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). (PMID: 9465305) Dodé C … Petit C (Genomics 1998) 2 3 4 22
  2. 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
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4
  4. A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q. (PMID: 10036193) Kibar Z … Rouleau GA (Genomics 1999) 3 22
  5. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D. (PMID: 31980649) Kennedy SA … Kolch W (Nature communications 2020) 3

Products for TUBA3C Gene

Sources for TUBA3C Gene