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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	347688
Gene name	Tubulin beta 8 class VIII
Gene symbol	TUBB8
Synonyms (NCBI Gene)	OOMDOOMD2OZEMA2bA631M21.2
Chromosome	10
Chromosome location	10p15.3
Summary	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 (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0001556	Process	Oocyte maturation	IMP	26789871
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007056	Process	Spindle assembly involved in female meiosis	IMP	26789871
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045171	Component	Intercellular bridge	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072686	Component	Mitotic spindle	IDA
GO:0072686	Component	Mitotic spindle	IEA
GO:0072687	Component	Meiotic spindle	IDA	26789871

MIM	HGNC	e!Ensembl
616768	20773	ENSG00000261456

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

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Inherited oocyte maturation defect	Likely pathogenic	rs782269374	RCV000856582	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oocyte maturation defect 2	Pathogenic; Likely pathogenic	rs869025271, rs869025272, rs869025273, rs869025611, rs869025612, rs869025610, rs869025609, rs1057520306, rs1057520307, rs782246853, rs1588270347, rs782269374, rs1834346707, rs1834347552, rs1834348631 View all (22 more)	RCV000207100 RCV000207225 RCV000207037 RCV000208778 RCV000208765 View all (32 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Aplasia/Hypoplasia of the phalanges of the 4th toe	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIC-rearranged sarcoma	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Female infertility	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE INFERTILITY DUE TO OOCYTE MEIOTIC ARREST	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Streaky metaphyseal sclerosis	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	36735156	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	39237897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	38007525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	38007525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Female infertility due to oocyte meiotic arrest	Female infertility	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility	Infertility	Pubtator	29704226, 32063091, 36197634, 37904145, 38007525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	30297906, 32524331, 36197634, 36735156, 38007525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OOCYTE MATURATION DEFECT 2	Oocyte Maturation Defect	UNIPROT_DG	26789871, 27273344		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OOCYTE MATURATION DEFECT 2	Oocyte Maturation Defect	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OOCYTE MATURATION DEFECT 2	Oocyte Maturation Defect	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

TUBB8 (tubulin beta 8 class VIII)