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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	KCS1, PEAMO
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

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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	27666369
GO:0005515	Function	Protein binding	IPI	27666374
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005874	Component	Microtubule	TAS	8706133
GO:0006457	Process	Protein folding	TAS	8706133
GO:0007021	Process	Tubulin complex assembly	IBA	21873635
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IBA	21873635
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IDA	11847227
GO:0007052	Process	Mitotic spindle organization	IMP	27666369
GO:0043014	Function	Alpha-tubulin binding	IBA	21873635
GO:0051087	Function	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 (19)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	rs119463990, rs587777813, rs398123555, rs119463996, rs587777748, rs119463991, rs119463992, rs119464997, rs267606814, rs119463989, rs533916138, rs587777815, rs200198778, rs267606969, rs267606963 View all (138 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Encephalopathy, with amyotrophy and optic atrophy	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY	rs767004810, rs750781063, rs780472451, rs1553336397	27666369
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)
Hypoparathyroidism-retardation-dysmorphism syndrome	HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, Sanjad-Sakati syndrome	rs767004810, rs1572324681, rs121908384	27666369, 12389028, 16938882, 25097779
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Kenny-caffey syndrome	Kenny-Caffey syndrome, KENNY-CAFFEY SYNDROME, TYPE 1, Kenny-Caffey syndrome, type 2, Autosomal recessive Kenny-Caffey syndrome	rs767004810, rs587777011, rs1565206032, rs200356271	12389028, 27666369, 16938882
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	15645691, 9475091, 27666369, 12389028, 2001103, 7538982
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)	19557161
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic ataxia	Spastic Ataxia	rs72555372, rs74315473, rs281865117, rs281865118, rs137853016, rs2137634136, rs137853017, rs606231163, rs137853018, rs137853019, rs2137724246, rs2137716138, rs267606900, rs387906889, rs281865120 View all (280 more)
Spinal muscular atrophy	Spinal Muscular Atrophy	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361 View all (22 more)

Show/Hide Unknown Diseases (7)

Disease term	Disease name	Source
Unknown
Distal amyotrophy	Distal amyotrophy	ClinVar
Peripheral axonal neuropathy	Peripheral axonal neuropathy	ClinVar
Spastic tetraparesis	Spastic tetraparesis	ClinVar
Encephalopathy, With Amyotrophy And Optic Atrophy	encephalopathy, progressive, with amyotrophy and optic atrophy	GenCC
Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GenCC
Diabetes	Diabetes	GWAS
Oligodendroglioma	Oligodendroglioma	GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
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)