Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6905
Gene name Gene Name - the full gene name approved by the HGNC.	Tubulin folding cofactor E
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TBCE
Synonyms (NCBI Gene) Gene synonyms aliases	HRD, KCS, KCS1, PEAMO, pac2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q42.3
Summary Summary of gene provided in NCBI Entrez Gene.	Cofactor E 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 intermediate

Show/Hide all(16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908384	T>A	Pathogenic	Stop gained, coding sequence variant
rs139440109	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs141498084	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143886167	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs144448831	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs372236046	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs569925016	AT>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs750781063	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs758937799	AG>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs767004810	GCCACGAAGGGA>-	Pathogenic-likely-pathogenic, pathogenic	Intron variant, inframe deletion, coding sequence variant
rs780472451	T>A	Pathogenic	Missense variant, coding sequence variant
rs1283368278	G>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1553336397	T>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1553339816	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1572324681	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1572391840	AT>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042552	hsa-miR-423-3p	CLASH	23622248

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	27666369
GO:0005515	Function	Protein binding	IPI	27666374
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	TAS	8706133
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	TAS	8706133
GO:0007021	Process	Tubulin complex assembly	IBA
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IBA
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IDA	11847227
GO:0007052	Process	Mitotic spindle organization	IMP	27666369
GO:0007409	Process	Axonogenesis	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0014889	Process	Muscle atrophy	IEA
GO:0043014	Function	Alpha-tubulin binding	IBA
GO:0048589	Process	Developmental growth	IEA
GO:0048936	Process	Peripheral nervous system neuron axonogenesis	IEA
GO:0051087	Function	Protein-folding chaperone binding	TAS	8706133

MIM	HGNC	e!Ensembl
604934	11582	ENSG00000284770

Protein

UniProt ID

Q15813

Protein name

Tubulin-specific chaperone E (Tubulin-folding cofactor E)

Protein function

Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of

PDB

4ICU , 4ICV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01302	CAP_GLY	10 → 75	CAP-Gly domain	Domain
PF14560	Ubiquitin_2	446 → 526	Ubiquitin-like domain	Domain

Sequence

MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFK
CRHPTGGSFIRPNKVNFGTDFLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIM
KQQSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRH
LEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNN
IFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIG
CKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIA
SIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQF
LCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSR
LLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW

Sequence length

527

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Encephalopathy, With Amyotrophy And Optic Atrophy	encephalopathy, progressive, with amyotrophy and optic atrophy	rs750781063, rs780472451, rs1553336397, rs767004810	N/A
Hypoparathyroidism-retardation-dysmorphism syndrome	hypoparathyroidism-retardation-dysmorphism syndrome	rs121908384, rs767004810, rs1572324681	N/A
Kenny-Caffey Syndrome	autosomal recessive kenny-caffey syndrome	rs200356271, rs767004810	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	N/A	N/A	GenCC
Microcephaly	microcephaly	N/A	N/A	ClinVar
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Brain Diseases	Associate	29921875
Clear cell metastatic renal cell carcinoma	Associate	39366934
Congenital Abnormalities	Associate	36258138
Constriction Pathologic	Associate	19554981
Disorders of Sex Development	Associate	35432193
Facial Dysmorphism with Multiple Malformations	Associate	16938882
Genetic Diseases Inborn	Associate	16938882
Growth Disorders	Associate	22764442
Hypoparathyroidism	Associate	16938882, 22764442, 30080992, 36258138
Hypoparathyroidism retardation dysmorphism syndrome	Associate	19554981, 22764442, 26336027, 30080992, 36258138
Intellectual Disability	Associate	16938882, 23996431
Kenny Caffey syndrome Type 1	Associate	19554981, 23996431
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	20103624
Ovarian Neoplasms	Associate	27702817
Renal Insufficiency	Associate	16938882
Severe Combined Immunodeficiency	Associate	36258138

TBCE (tubulin folding cofactor E)