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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	6905
Gene name	Tubulin folding cofactor E
Gene symbol	TBCE
Synonyms (NCBI Gene)	HRDKCSKCS1PEAMOpac2
Chromosome	1
Chromosome location	1q42.3
Summary	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

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

190

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive Kenny-Caffey syndrome	Likely pathogenic; Pathogenic	rs1188106799, rs767004810, rs758937799, rs1329466833, rs200356271, rs1572391840, rs1681531187	RCV005005995 RCV000191990 RCV000490495 RCV005014791 RCV001198592 RCV000991360 RCV005359861
Disorder of sexual differentiation	Likely pathogenic; Pathogenic	rs200356271	RCV001568319
Encephalopathy, progressive, with amyotrophy and optic atrophy	Likely pathogenic; Pathogenic	rs1188106799, rs2102920283, rs767004810, rs758937799, rs1329466833, rs750781063, rs780472451, rs1553336397, rs200356271, rs1681531187	RCV005005995 RCV001807925 RCV003989279 RCV004796107 RCV005014791 RCV000412635 RCV000412509 RCV000625912 RCV005021158 RCV005359861
Hypoparathyroidism-retardation-dysmorphism syndrome	Likely pathogenic; Pathogenic	rs1188106799, rs767004810, rs1572324681, rs121908384, rs758937799, rs1329466833, rs200356271, rs1572391840, rs1681531187	RCV005005995 RCV000005608 RCV000005610 RCV000005611 RCV000490495 RCV005014791 RCV005021158 RCV000991360 RCV005359861
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs200356271	RCV005897382
See cases	Likely pathogenic; Pathogenic	rs1226347591	RCV002253130
TBCE-related disorder	Likely pathogenic; Pathogenic	rs767004810, rs758937799, rs750781063, rs780472451, rs200356271	RCV005256548 RCV005237730 RCV002298580 RCV005407084 RCV004549847

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs114972093	RCV005891664
Cholangiocarcinoma	Benign	rs12757197	RCV005891661
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Conflicting classifications of pathogenicity	rs12757197, rs370888603	RCV005891662 RCV005891663
Colorectal cancer	Benign	rs12757197	RCV005891657
Familial pancreatic carcinoma	Benign	rs12757197	RCV005891655
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs143886167, rs370039860	RCV005895570 RCV005939252
Hepatocellular carcinoma	Benign; Uncertain significance	rs2291688, rs187162634, rs150187679	RCV005915848 RCV005922865 RCV005895654
Lung cancer	Uncertain significance	rs375709037	RCV005923994
Lymphoma	Benign	rs12757197	RCV005891658
Malignant lymphoma, large B-cell, diffuse	Benign	rs2291688, rs12757197	RCV005915849 RCV005891656
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Uncertain significance	rs143886167, rs370039860	RCV005895569 RCV005939251
Malignant tumor of urinary bladder	Benign	rs148233223	RCV005908707
Microcephaly	Likely benign	rs114972093	RCV001252727
Ovarian cancer	Uncertain significance; Benign	rs768389458, rs12757197	RCV005930361 RCV005891653
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs143886167	RCV005895571
Pituitary stalk interruption syndrome	Uncertain significance	rs751679100	RCV003330349
Thymoma	Benign; Conflicting classifications of pathogenicity	rs6658187, rs143886167, rs12757197	RCV005911511 RCV005895572 RCV005891660
Uterine carcinosarcoma	Benign	rs6658187, rs2291688, rs12757197	RCV005911510 RCV005915850 RCV005891659
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs6658187, rs114972093	RCV005911512 RCV005891665
Uveal melanoma	Benign	rs12757197	RCV005891654

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)