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Aliases for TBCD Gene

Aliases for TBCD Gene

  • Tubulin Folding Cofactor D 2 3 5
  • Tubulin-Specific Chaperone D 2 3
  • Beta-Tubulin Cofactor D 3 4
  • SSD-1 3 4
  • TfcD 3 4
  • Tubulin-Folding Cofactor D 4
  • KIAA0988 4
  • PEBAT 3
  • SSD1 4

External Ids for TBCD Gene

Previous GeneCards Identifiers for TBCD Gene

  • GC17P079838
  • GC17P083992
  • GC17P081239
  • GC17P081388
  • GC17P078303
  • GC17P080709
  • GC17P076109

Summaries for TBCD Gene

Entrez Gene Summary for TBCD Gene

  • Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]

GeneCards Summary for TBCD Gene

TBCD (Tubulin Folding Cofactor D) is a Protein Coding gene. Diseases associated with TBCD include Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum and Corneal Dystrophy, Reis-Bucklers Type. Among its related pathways are Chaperonin-mediated protein folding and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. GO annotations related to this gene include binding and chaperone binding.

UniProtKB/Swiss-Prot for TBCD Gene

  • Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane (PubMed:10722852, PubMed:10831612, PubMed:11847227, PubMed:20740604, PubMed:27666370, PubMed:28158450). Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis (PubMed:27666370). Involved in neuron morphogenesis (PubMed:27666374).

Gene Wiki entry for TBCD Gene

Additional gene information for TBCD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBCD Gene

Genomics for TBCD Gene

Regulatory Elements for TBCD Gene


Enhancers around TBCD on UCSC Golden Path with GeneCards custom track

Promoters for TBCD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000099676 40 2201 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 ZNF207 PAF1 SP3

Genomic Location for TBCD Gene

Chromosome:
17
Start:
82,752,060 bp from pter
End:
82,945,922 bp from pter
Size:
193,863 bases
Orientation:
Plus strand

Genomic View for TBCD Gene

Genes around TBCD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TBCD Gene

Proteins for TBCD Gene

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

    Protein Symbol:
    Q9BTW9-TBCD_HUMAN
    Recommended name:
    Tubulin-specific chaperone D
    Protein Accession:
    Q9BTW9
    Secondary Accessions:
    • O95458
    • Q7L8K1
    • Q8IXP6
    • Q8NAX0
    • Q8WYH4
    • Q96E74
    • Q9UF82
    • Q9UG46
    • Q9Y2J3

    Protein attributes for TBCD Gene

    Size:
    1192 amino acids
    Molecular mass:
    132600 Da
    Quaternary structure:
    • Found in a complex with at least ARL2, PPP2CB, PPP2R1A, PPP2R2A, PPP2R5E and TBCD. Interacts with PPP2CB (By similarity). Part of a supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-tubulin complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the native state (PubMed:10831612). Interacts with ARL2; interaction is enhanced with the GDP-bound form of ARL2 (PubMed:10831612, PubMed:27666374). Does not interact with ARL3, ARL4A and ARL4D (PubMed:10831612). Interacts with beta tubulin (PubMed:10831612, PubMed:27666370, PubMed:27666374). Interacts with TBCE (PubMed:27666374).
    SequenceCaution:
    • Sequence=AAH39654.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA76832.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TBCD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBCD Gene

Post-translational modifications for TBCD Gene

  • Ubiquitination at Lys202, posLast=224224, posLast=370370, posLast=453453, Lys634, Lys691, posLast=788788, Lys820, posLast=873873, Lys913, and Lys947
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBCD Gene

Domains & Families for TBCD Gene

Gene Families for TBCD Gene

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

Protein Domains for TBCD Gene

Suggested Antigen Peptide Sequences for TBCD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BTW9

UniProtKB/Swiss-Prot:

TBCD_HUMAN :
  • Belongs to the TBCD family.
Family:
  • Belongs to the TBCD family.
genes like me logo Genes that share domains with TBCD: view

Function for TBCD Gene

Molecular function for TBCD Gene

UniProtKB/Swiss-Prot Function:
Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane (PubMed:10722852, PubMed:10831612, PubMed:11847227, PubMed:20740604, PubMed:27666370, PubMed:28158450). Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis (PubMed:27666370). Involved in neuron morphogenesis (PubMed:27666374).
UniProtKB/Swiss-Prot Induction:
Down-regulated by shear stress.

Phenotypes From GWAS Catalog for TBCD Gene

Gene Ontology (GO) - Molecular Function for TBCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IMP,IEA 10831612
GO:0005515 protein binding IPI 10831612
GO:0048487 beta-tubulin binding IDA,IEA 10831612
GO:0051087 chaperone binding TAS 8706133
genes like me logo Genes that share ontologies with TBCD: view
genes like me logo Genes that share phenotypes with TBCD: view

Animal Model Products

CRISPR Products

miRNA for TBCD Gene

miRTarBase miRNAs that target TBCD

Inhibitory RNA Products

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

Localization for TBCD Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBCD Gene

Cell junction, tight junction. Lateral cell membrane. Cytoplasm. Cell junction, adherens junction. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localized in cell-cell contacts. {ECO:0000250 UniProtKB:Q28205}.

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 TBCD gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TBCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 27666370
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule TAS 8706133
genes like me logo Genes that share ontologies with TBCD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBCD Gene

Pathways & Interactions for TBCD Gene

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

Pathways by source for TBCD Gene

Gene Ontology (GO) - Biological Process for TBCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 27666370
GO:0006457 protein folding TAS 8706133
GO:0007021 tubulin complex assembly IDA,IEA 28158450
GO:0007023 post-chaperonin tubulin folding pathway IDA,IEA 11847227
GO:0010812 negative regulation of cell-substrate adhesion ISS --
genes like me logo Genes that share ontologies with TBCD: view

No data available for SIGNOR curated interactions for TBCD Gene

Drugs & Compounds for TBCD Gene

(1) Drugs for TBCD Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with TBCD: view

Transcripts for TBCD Gene

Unigene Clusters for TBCD Gene

Tubulin folding cofactor D:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: -
SP2: -
SP3:
SP4:
SP5: - - - - - - - - - - - - - - - - - -
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b · 32c ^ 33 ^ 34 ^ 35a · 35b · 35c ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^
SP1: - - - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5: - - - - - - - - - -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 41 ^ 42a · 42b · 42c ^ 43a · 43b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TBCD Gene

GeneLoc Exon Structure for
TBCD
ECgene alternative splicing isoforms for
TBCD

Expression for TBCD Gene

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

Protein differential expression in normal tissues from HIPED for TBCD Gene

This gene is overexpressed in Bone (23.0).

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



Protein tissue co-expression partners for TBCD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBCD Gene:

TBCD

SOURCE GeneReport for Unigene cluster for TBCD Gene:

Hs.464391

mRNA Expression by UniProt/SwissProt for TBCD Gene:

Q9BTW9-TBCD_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for TBCD Gene

  • Nervous system(4.8)
  • Intestine(4.3)
  • Kidney(4.3)
  • Muscle(4.3)
  • Eye(3.6)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with TBCD: view

Primer Products

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

Orthologs for TBCD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBCD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBCD 33 34
  • 98.24 (n)
cow
(Bos Taurus)
Mammalia TBCD 33 34
  • 82.21 (n)
dog
(Canis familiaris)
Mammalia TBCD 33 34
  • 81.87 (n)
rat
(Rattus norvegicus)
Mammalia Tbcd 33
  • 80.82 (n)
mouse
(Mus musculus)
Mammalia Tbcd 33 16 34
  • 80.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TBCD 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBCD 33 34
  • 69.07 (n)
lizard
(Anolis carolinensis)
Reptilia TBCD 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbcd 33
  • 66.9 (n)
zebrafish
(Danio rerio)
Actinopterygii tbcd 33 34
  • 64.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7261 33 34
  • 51.3 (n)
BcDNA:LD22320 35
  • 39 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004782 33
  • 49.52 (n)
worm
(Caenorhabditis elegans)
Secernentea F16D3.4 35 34
  • 28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TTN1 33
  • 45.94 (n)
rice
(Oryza sativa)
Liliopsida Os10g0508500 33
  • 47.29 (n)
Os.17209 33
wheat
(Triticum aestivum)
Liliopsida Ta.24136 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for TBCD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for TBCD Gene

ENSEMBL:
Gene Tree for TBCD (if available)
TreeFam:
Gene Tree for TBCD (if available)

Paralogs for TBCD Gene

No data available for Paralogs for TBCD Gene

Variants for TBCD Gene

Sequence variations from dbSNP and Humsavar for TBCD Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs181969865 Pathogenic, Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] 82,924,992(+) TGACT(C/T)GCTGT nc-transcript-variant, reference, missense
rs749225304 Pathogenic, Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] 82,906,007(+) CCTGC(A/G/T)CAGAA intron-variant, nc-transcript-variant, reference, missense
rs755177846 Pathogenic, Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] 82,938,132(+) TTTCC(C/T)GCTGG intron-variant, nc-transcript-variant, reference, missense
rs764003906 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] 82,938,080(+) GCGAC(A/G)TGAGG intron-variant, nc-transcript-variant, reference, missense
rs764085684 Pathogenic, Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193] 82,807,650(+) CGTGC(A/G)GTGGT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1528n106 CNV deletion 24896259
dgv192e215 CNV deletion 23714750
dgv3296n100 CNV gain 25217958
dgv3297n100 CNV gain 25217958
dgv437e201 CNV deletion 23290073
dgv438e201 CNV deletion 23290073
dgv439e201 CNV deletion 23290073
dgv440e201 CNV deletion 23290073
dgv5806n54 CNV loss 21841781
esv1007172 CNV insertion 20482838
esv1161627 CNV insertion 17803354
esv1168558 CNV insertion 17803354
esv1425638 CNV insertion 17803354
esv1617510 CNV insertion 17803354
esv1644280 CNV insertion 17803354
esv1655374 CNV insertion 17803354
esv1709974 CNV insertion 17803354
esv1732251 CNV deletion 17803354
esv2073196 CNV deletion 18987734
esv2100645 CNV deletion 18987734
esv21913 CNV gain+loss 19812545
esv2259631 CNV deletion 18987734
esv2456872 CNV insertion 19546169
esv2473716 CNV deletion 19546169
esv2543939 CNV deletion 19546169
esv2716526 CNV deletion 23290073
esv2716528 CNV deletion 23290073
esv2716538 CNV deletion 23290073
esv2716539 CNV deletion 23290073
esv2716541 CNV deletion 23290073
esv2716542 CNV deletion 23290073
esv2716543 CNV deletion 23290073
esv2716544 CNV deletion 23290073
esv2716545 CNV deletion 23290073
esv2716546 CNV deletion 23290073
esv2716547 CNV deletion 23290073
esv2716548 CNV deletion 23290073
esv2716549 CNV deletion 23290073
esv2716550 CNV deletion 23290073
esv2716552 CNV deletion 23290073
esv2716553 CNV deletion 23290073
esv2716554 CNV deletion 23290073
esv2716555 CNV deletion 23290073
esv2716556 CNV deletion 23290073
esv2716557 CNV deletion 23290073
esv2716558 CNV deletion 23290073
esv2716559 CNV deletion 23290073
esv2716560 CNV deletion 23290073
esv2716561 CNV deletion 23290073
esv2716563 CNV deletion 23290073
esv2716564 CNV deletion 23290073
esv2716565 CNV deletion 23290073
esv2762577 CNV gain+loss 21179565
esv3303712 CNV mobile element insertion 20981092
esv3385939 CNV duplication 20981092
esv3422879 CNV insertion 20981092
esv3529 CNV loss 18987735
esv3554914 CNV deletion 23714750
esv3582924 CNV loss 25503493
esv3641440 CNV loss 21293372
esv3641441 CNV loss 21293372
esv3641442 CNV loss 21293372
esv3641443 CNV loss 21293372
esv3893052 CNV gain 25118596
esv4667 CNV loss 18987735
esv992336 CNV deletion 20482838
nsv1057153 CNV loss 25217958
nsv1057589 CNV loss 25217958
nsv1061637 CNV loss 25217958
nsv1067553 CNV loss 25217958
nsv1071816 CNV deletion 25765185
nsv1109115 CNV deletion 24896259
nsv1110713 CNV insertion 24896259
nsv1117188 CNV tandem duplication 24896259
nsv112068 CNV deletion 16902084
nsv1125645 CNV tandem duplication 24896259
nsv1140141 CNV insertion 24896259
nsv1146141 CNV deletion 26484159
nsv1146704 CNV insertion 26484159
nsv1151718 CNV insertion 26484159
nsv1152365 CNV insertion 26484159
nsv1152704 CNV deletion 26484159
nsv2168 CNV insertion 18451855
nsv428351 CNV gain 18775914
nsv576215 CNV loss 21841781
nsv576217 CNV loss 21841781
nsv820596 CNV deletion 20802225
nsv828146 CNV gain 20364138
nsv833575 CNV loss 17160897
nsv833576 CNV gain 17160897
nsv954915 CNV deletion 24416366

Variation tolerance for TBCD Gene

Residual Variation Intolerance Score: 9.19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.06; 68.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBCD Gene

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

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

Disorders for TBCD Gene

MalaCards: The human disease database

(15) MalaCards diseases for TBCD Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
  • pebat
corneal dystrophy, reis-bucklers type
  • reis-bucklers corneal dystrophy
chronic tic disorder
  • chronic motor or vocal tic disorder
spastic quadriplegia
  • quadriplegic infantile cerebral palsy
hypoparathyroidism-retardation-dysmorphism syndrome
  • hrd syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TBCD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBCD_HUMAN
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]: An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia. {ECO:0000269 PubMed:27666370, ECO:0000269 PubMed:27666374, ECO:0000269 PubMed:27807845, ECO:0000269 PubMed:28158450}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBCD

Genetic Association Database (GAD)
TBCD
Human Genome Epidemiology (HuGE) Navigator
TBCD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBCD
genes like me logo Genes that share disorders with TBCD: view

No data available for Genatlas for TBCD Gene

Publications for TBCD Gene

  1. Shear stress-dependent regulation of the human beta-tubulin folding cofactor D gene. (PMID: 11110777) Schubert A … Morawietz H (Circulation research 2000) 3 4 22 60
  2. ADP ribosylation factor-like protein 2 (Arl2) regulates the interaction of tubulin-folding cofactor D with native tubulin. (PMID: 10831612) Bhamidipati A … Cowan NJ (The Journal of cell biology 2000) 3 4 22 60
  3. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. (PMID: 27807845) Pode-Shakked B … Raas-Rothschild A (Clinical genetics 2017) 3 4 60
  4. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. (PMID: 27666374) Miyake N … Matsumoto N (American journal of human genetics 2016) 3 4 60
  5. Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. (PMID: 27666370) Flex E … Tartaglia M (American journal of human genetics 2016) 3 4 60

Products for TBCD Gene

Sources for TBCD Gene

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