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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	347688
Gene name Gene Name - the full gene name approved by the HGNC.	Tubulin beta 8 class VIII
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TUBB8
Synonyms (NCBI Gene) Gene synonyms aliases	OOMD, OOMD2, OZEMA2, bA631M21.2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	OZEMA2
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p15.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016]

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs782246853	C>-,CC	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs782269374	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs869025271	A>G	Pathogenic	Coding sequence variant, missense variant
rs869025272	C>T	Pathogenic	Coding sequence variant, missense variant
rs869025273	C>T	Pathogenic	Coding sequence variant, intron variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs869025609	G>A	Pathogenic	Coding sequence variant, missense variant
rs869025610	C>T	Pathogenic	Coding sequence variant, missense variant
rs869025611	A>G	Pathogenic	Coding sequence variant, missense variant
rs869025612	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057520306	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057520307	GCGGAGTCGATGGCATGTTCA>-	Pathogenic	Inframe deletion, upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1588270347	C>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant

Show/Hide all(28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT517366	hsa-miR-5680	PAR-CLIP	20371350
MIRT517365	hsa-miR-8060	PAR-CLIP	20371350
MIRT517364	hsa-miR-3185	PAR-CLIP	20371350
MIRT517363	hsa-miR-4253	PAR-CLIP	20371350
MIRT517362	hsa-miR-6862-5p	PAR-CLIP	20371350
MIRT517360	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT517366	hsa-miR-5680	PAR-CLIP	23446348
MIRT517365	hsa-miR-8060	PAR-CLIP	23446348
MIRT517364	hsa-miR-3185	PAR-CLIP	23446348
MIRT517363	hsa-miR-4253	PAR-CLIP	23446348
MIRT517362	hsa-miR-6862-5p	PAR-CLIP	23446348
MIRT517361	hsa-miR-486-3p	PAR-CLIP	23446348
MIRT517360	hsa-miR-7156-3p	PAR-CLIP	23446348
MIRT517366	hsa-miR-5680	PAR-CLIP	20371350
MIRT517365	hsa-miR-8060	PAR-CLIP	20371350
MIRT517364	hsa-miR-3185	PAR-CLIP	20371350
MIRT517363	hsa-miR-4253	PAR-CLIP	20371350
MIRT517362	hsa-miR-6862-5p	PAR-CLIP	20371350
MIRT517360	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT517366	hsa-miR-5680	PAR-CLIP	23446348
MIRT517365	hsa-miR-8060	PAR-CLIP	23446348
MIRT517364	hsa-miR-3185	PAR-CLIP	23446348
MIRT517363	hsa-miR-4253	PAR-CLIP	23446348
MIRT517362	hsa-miR-6862-5p	PAR-CLIP	23446348
MIRT517361	hsa-miR-486-3p	PAR-CLIP	23446348
MIRT517360	hsa-miR-7156-3p	PAR-CLIP	23446348
MIRT2441552	hsa-miR-4677-3p	CLIP-seq
MIRT2441553	hsa-miR-580	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0000278	Process	Mitotic cell cycle	IBA	21873635
GO:0001556	Process	Oocyte maturation	IMP	26789871
GO:0003674	Function	Molecular_function	ND
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA	21873635
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005874	Component	Microtubule	IBA	21873635
GO:0007056	Process	Spindle assembly involved in female meiosis	IMP	26789871
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072687	Component	Meiotic spindle	IDA	26789871

MIM	HGNC	e!Ensembl
616768	20773	ENSG00000261456

Protein

UniProt ID

Q3ZCM7

Protein name

Tubulin beta-8 chain (Tubulin beta 8 class VIII)

Protein function

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule en

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00091	Tubulin	3 → 212	Tubulin/FtsZ family, GTPase domain	Domain
PF03953	Tubulin_C	261 → 383	Tubulin C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at a high level in oocytes, at different stages of development. {ECO:0000269|PubMed:26789871}.

Sequence

MREIVLTQIGQCGNQIGAKFWEVISDEHAIDSAGTYHGDSHLQLERINVYYNEASGGRYV
PRAVLVDLEPGTMDSVRSGPFGQVFRPDNFIFGQCGAGNNWAKGHYTEGAELMESVMDVV
RKEAESCDCLQGFQLTHSLGGGTGSGMGTLLLSKIREEYPDRIINTFSILPSPKVSDTVV
EPYNATLSVHQLIENADETFCIDNEALYDICSKTLKLPTPTYGDLNHLVSATMSGVTTCL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVAELTQQMFDAKNMM
AACDPRHGRYLTAAAIFRGRMPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPPRG
LKMSATFIGNNTAIQELFKRVSEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS
EYQQYQDATAEEEEDEEYAEEEVA

Sequence length

444

Interactions

View interactions

	KEGG		Reactome
	Phagosome Gap junction Motor proteins Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Pathogenic Escherichia coli infection Salmonella infection		Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion HSP90 chaperone cycle for steroid hormone receptors (SHR) Recruitment of NuMA to mitotic centrosomes Recycling pathway of L1 Cilium Assembly RHO GTPases activate IQGAPs RHO GTPases Activate Formins COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase The role of GTSE1 in G2/M progression after G2 checkpoint Carboxyterminal post-translational modifications of tubulin HCMV Early Events Aggrephagy EML4 and NUDC in mitotic spindle formation Sealing of the nuclear envelope (NE) by ESCRT-III Kinesins

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Female infertility	Female infertility due to oocyte meiotic arrest	rs587777362, rs763617076, rs1590594990, rs1307369466, rs1590594352
Oocyte maturation defect	OOCYTE MATURATION DEFECT 2	rs869025271, rs869025272, rs869025273, rs869025611, rs869025612, rs869025610, rs869025609, rs1057520306, rs1057520307, rs782246853, rs1554625334, rs548527219, rs1351320025, rs752734259, rs751701388 View all (18 more)	27273344, 26789871

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Oocyte Maturation Defect	oocyte maturation defect 2			GenCC

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
Axenfeld Rieger syndrome	Associate	38007525
Carcinoma Embryonal	Associate	36735156
Carcinoma Squamous Cell	Associate	39237897
Congenital Abnormalities	Associate	38007525
COVID 19	Associate	36572190
Developmental Disabilities	Associate	38007525
Disease	Associate	38007525
Genetic Diseases Inborn	Associate	32063091
Infertility	Associate	29704226, 32063091, 36197634, 37904145, 38007525
Infertility Female	Associate	30297906, 32524331, 36197634, 36735156, 38007525
Neoplasms Germ Cell and Embryonal	Associate	30297906
Renal Insufficiency	Associate	36197634, 38007525

TUBB8 (tubulin beta 8 class VIII)