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Gene Gene information from NCBI Gene database.
Entrez ID 1155
Gene name Tubulin folding cofactor B
Gene symbol TBCB
Synonyms (NCBI Gene)
CG22CKAP1CKAPI
Chromosome 19
Chromosome location 19q13.12
miRNA miRNA information provided by mirtarbase database.
18 Show/Hide all (18)
miRTarBase ID miRNA Experiments Reference
MIRT005195 hsa-miR-30a-5p pSILAC 18668040
MIRT005195 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT043042 hsa-miR-324-5p CLASH 23622248
MIRT040285 hsa-miR-615-3p CLASH 23622248
MIRT1413955 hsa-miR-1909 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18 Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16303566, 16713569, 22777741, 28514442, 33961781
GO:0005634 Component Nucleus IBA
GO:0005737 Component Cytoplasm IDA 22777741
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601303 1989 ENSG00000105254
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99426
Protein name Tubulin-folding cofactor B (Cytoskeleton-associated protein 1) (Cytoskeleton-associated protein CKAPI) (Tubulin-specific chaperone B)
Protein function Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer (PubMed:9265649). Involved in regulation of tubulin heterodimer d
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01302 CAP_GLY 161 → 229 CAP-Gly domain Domain
PF14560 Ubiquitin_2 10 → 94 Ubiquitin-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Found in most tissues.
Sequence
Sequence length 244
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CHILDHOOD-ONSET SPASTIC PARAPLEGIA Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30030593
★★★★★
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia LHGDN 19165527
★★★★★
★☆☆☆☆
Found in Text Mining only
Trigeminal Neuralgia Trigeminal neuralgia Pubtator 38158702 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only