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Aliases for TBCD Gene

Aliases for TBCD Gene

  • Tubulin Folding Cofactor D 2 3 5
  • Tubulin-Folding Cofactor D 3 4
  • Beta-Tubulin Cofactor D 3 4
  • SSD-1 3 4
  • TfcD 3 4
  • Tubulin-Specific Chaperone D 2
  • KIAA0988 4
  • 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 Corneal Dystrophy, Reis-Bucklers Type and Retinitis Pigmentosa 2. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Chaperonin-mediated protein folding. GO annotations related to this gene include binding and chaperone binding.

UniProtKB/Swiss-Prot for TBCD Gene

  • Tubulin-folding protein; involved in the first step of the tubulin folding pathway. Modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Acts as a GTPase-activating protein (GAP) for ARL2. Its ability to interact with beta tubulin is regulated via its interaction with 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.

Gene Wiki entry for TBCD Gene

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

Genomics for TBCD Gene

Regulatory Elements for TBCD Gene

Enhancers for TBCD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around TBCD on UCSC Golden Path with GeneCards custom track

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. Interacts with ARL2 (By similarity). 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. Interacts with ARL2; interaction is enhanced with the GDP-bound form of ARL2. Does not interact with ARL3, ARL4A and ARL4D. Interacts with beta tubulin.
    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

Proteomics data for TBCD Gene at MOPED

Post-translational modifications for TBCD Gene

  • Ubiquitination at Lys 202, Lys 224, Lys 370, Lys 453, Lys 634, Lys 691, Lys 788, Lys 820, Lys 873, Lys 913, and Lys 947
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBCD Gene

Domains & Families for TBCD Gene

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.
  • Contains 3 HEAT repeats.
Family:
  • Belongs to the TBCD family.
Similarity:
  • Contains 3 HEAT repeats.
genes like me logo Genes that share domains with TBCD: view

No data available for Gene Families for TBCD Gene

Function for TBCD Gene

Molecular function for TBCD Gene

UniProtKB/Swiss-Prot Function:
Tubulin-folding protein; involved in the first step of the tubulin folding pathway. Modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Acts as a GTPase-activating protein (GAP) for ARL2. Its ability to interact with beta tubulin is regulated via its interaction with 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.
UniProtKB/Swiss-Prot Induction:
Down-regulated by shear stress.

Gene Ontology (GO) - Molecular Function for TBCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding IEA --
GO:0048487 beta-tubulin binding IDA 10831612
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

miRNA for TBCD Gene

miRTarBase miRNAs that target TBCD

Inhibitory RNA Products

Flow Cytometry 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. Note=Localized in cell-cell contacts. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBCD Gene COMPARTMENTS Subcellular localization image for TBCD gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 2
endoplasmic reticulum 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components 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:0007023 post-chaperonin tubulin folding pathway IDA 11847227
GO:0034333 adherens junction assembly ISS --
GO:0043547 positive regulation of GTPase activity IMP 10831612
GO:0044267 cellular protein metabolic process TAS --
GO:0051084 de novo posttranslational protein folding TAS --
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:

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 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, MOPED, and MaxQB for TBCD Gene



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.
genes like me logo Genes that share expression patterns with TBCD: view

Protein tissue co-expression partners for TBCD Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia TBCD 35
  • 82.21 (n)
  • 81.14 (a)
TBCD 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBCD 35
  • 81.87 (n)
  • 81.36 (a)
TBCD 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbcd 35
  • 80.66 (n)
  • 82.34 (a)
Tbcd 16
Tbcd 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBCD 35
  • 98.24 (n)
  • 98.58 (a)
TBCD 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbcd 35
  • 80.82 (n)
  • 82.59 (a)
oppossum
(Monodelphis domestica)
Mammalia TBCD 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves TBCD 35
  • 69.07 (n)
  • 70.81 (a)
TBCD 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBCD 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbcd 35
  • 66.9 (n)
  • 68.68 (a)
zebrafish
(Danio rerio)
Actinopterygii tbcd 35
  • 64.05 (n)
  • 65.13 (a)
tbcd 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:LD22320 37
  • 39 (a)
CG7261 35
  • 51.3 (n)
  • 41.7 (a)
CG7261 36
  • 39 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004782 35
  • 49.52 (n)
  • 41.64 (a)
worm
(Caenorhabditis elegans)
Secernentea F16D3.4 37
  • 28 (a)
F16D3.4 36
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons TTN1 35
  • 45.94 (n)
  • 38.89 (a)
rice
(Oryza sativa)
Liliopsida Os.17209 35
Os10g0508500 35
  • 47.29 (n)
  • 39.41 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.24136 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToOne
Species with no ortholog for TBCD:
  • 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
rs2292971 - 82,905,981(-) GCCTC(A/G)TGTGA intron-variant, nc-transcript-variant, reference, missense
rs3214033 - 82,929,187(-) ACACG(C/T)TGGCG nc-transcript-variant, reference, missense
rs8072406 - 82,929,247(+) CCGAG(G/T)AGAAC nc-transcript-variant, reference, missense
VAR_057267 -
rs922036 -- 82,918,304(-) AAGGA(C/T)GCAGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428351 CNV Gain 18775914
esv21913 CNV Gain+Loss 19812545
dgv3363n71 CNV Loss 21882294
nsv833575 CNV Loss 17160897
nsv909244 CNV Loss 21882294
nsv828146 CNV Gain 20364138
esv2473716 CNV Deletion 19546169
esv2716526 CNV Deletion 23290073
esv2073196 CNV Deletion 18987734
esv2100645 CNV Deletion 18987734
nsv820596 CNV Deletion 20802225
dgv478e201 CNV Deletion 23290073
esv2716528 CNV Deletion 23290073
dgv479e201 CNV Deletion 23290073
dgv480e201 CNV Deletion 23290073
dgv481e201 CNV Deletion 23290073
esv1655374 CNV Insertion 17803354
esv2716538 CNV Deletion 23290073
esv2716539 CNV Deletion 23290073
esv2543939 CNV Deletion 19546169
nsv909245 CNV Loss 21882294
nsv909246 CNV Loss 21882294
nsv833576 CNV Gain 17160897
esv2716541 CNV Deletion 23290073
esv2716542 CNV Deletion 23290073
nsv2168 CNV Insertion 18451855
esv2716543 CNV Deletion 23290073
esv267991 CNV Insertion 20981092
esv1161627 CNV Insertion 17803354
esv2716544 CNV Deletion 23290073
esv4667 CNV Deletion 18987735
esv2716545 CNV Deletion 23290073
esv2716546 CNV Deletion 23290073
esv2716547 CNV Deletion 23290073
dgv3364n71 CNV Loss 21882294
esv2716548 CNV Deletion 23290073
esv2716549 CNV Deletion 23290073
esv1709974 CNV Insertion 17803354
esv2456872 CNV Insertion 19546169
esv1617510 CNV Insertion 17803354
esv2716550 CNV Deletion 23290073
esv2716552 CNV Deletion 23290073
esv1425638 CNV Insertion 17803354
esv2716553 CNV Deletion 23290073
esv2716554 CNV Deletion 23290073
nsv909251 CNV Loss 21882294
dgv3366n71 CNV Loss 21882294
esv2716555 CNV Deletion 23290073
esv2716556 CNV Deletion 23290073
esv2716557 CNV Deletion 23290073
esv2716558 CNV Deletion 23290073
nsv909254 CNV Gain 21882294
esv2716559 CNV Deletion 23290073
esv1644280 CNV Insertion 17803354
nsv909255 CNV Gain 21882294
dgv3367n71 CNV Gain 21882294
esv2716560 CNV Deletion 23290073
esv2259631 CNV Deletion 18987734
esv2716561 CNV Deletion 23290073
esv3529 CNV Deletion 18987735
nsv112068 CNV Loss 16902084
esv992336 CNV Deletion 20482838
esv1732251 CNV Deletion 17803354
esv2716563 CNV Deletion 23290073
nsv909257 CNV Gain 21882294
nsv909259 CNV Gain 21882294
esv2716564 CNV Deletion 23290073
esv2716565 CNV Deletion 23290073
esv1007172 CNV Insertion 20482838
esv1168558 CNV Insertion 17803354
dgv3368n71 CNV Loss 21882294

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

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

Disorders for TBCD Gene

MalaCards: The human disease database

(10) MalaCards diseases for TBCD Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy, reis-bucklers type
  • reis-bucklers corneal dystrophy
retinitis pigmentosa 2
  • rp2
epithelial basement membrane dystrophy
  • corneal dystrophy, epithelial basement membrane
hypoparathyroidism-retardation-dysmorphism syndrome
  • hrd syndrome
corneal dystrophy, thiel-behnke type
  • thiel-behnke corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search TBCD in MalaCards View complete list of genes associated with diseases

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 UniProtKB/Swiss-Prot and 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. (Circ. Res. 2000) 3 4 23 67
  2. Beta-tubulin cofactor D and ARL2 take part in apical junctional complex disassembly and abrogate epithelial structure. (PMID: 17704193) Shultz T. … Altschuler Y. (FASEB J. 2008) 3 23
  3. ADP ribosylation factor-like protein 2 (Arl2) regulates the interaction of tubulin-folding cofactor D with native tubulin. (PMID: 10831612) Bhamidipati A. … Cowan N.J. (J. Cell Biol. 2000) 3 23
  4. ABCE1 is a highly conserved RNA silencing suppressor. (PMID: 25659154) KAorblane K. … Sarmiento C. (PLoS ONE 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for TBCD Gene

Sources for TBCD Gene

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