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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TUBB8
tubulin beta 8 class VIII
Chromosome 10 · 10p15.3
NCBI Gene: 347688Ensembl: ENSG00000261456.6HGNC: HGNC:20773UniProt: Q3ZCM7
105PubMed Papers
21Diseases
87Drugs
41Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
meiotic spindlesperm principal piecesperm end piececiliary tipFemale infertility due to fertilization defectnon-small cell lung carcinomabreast cancerbreast neoplasm
✦AI Summary

TUBB8 (tubulin beta 8 class VIII) is a primate-specific gene encoding a specialized β-tubulin isotype that plays a critical role in female reproduction. TUBB8 expression is unique to oocytes and early embryos, where it accounts for almost all expressed β-tubulin 1. The protein functions as a key component in meiotic spindle assembly and oocyte maturation, forming α/β-tubulin heterodimers that constitute microtubules essential for proper chromosome 10 1. TUBB8 mutations cause dominant-negative effects that disrupt microtubule behavior and spindle assembly, leading to catastrophic defects in oocyte meiotic maturation 1. These pathogenic variants affect chaperone-dependent folding and assembly of tubulin heterodimers, alter microtubule dynamics, and cause kinetochore-microtubule attachment defects that increase aneuploidy rates 12. Clinically, TUBB8 mutations are associated with female infertility characterized by oocyte maturation arrest, fertilization failure, embryonic development defects, and implantation failure 3. Multiple novel pathogenic variants have been identified across different populations, showing autosomal dominant/recessive inheritance patterns or occurring de novo 34. TUBB8 variants are also linked to recurrent miscarriages, making genetic screening valuable for patients with oocyte maturation disorders and unexplained infertility 25.

Sources cited
1
TUBB8 expression is unique to oocytes and early embryos, accounts for almost all β-tubulin, and mutations cause dominant-negative effects disrupting spindle assembly
PMID: 26789871
2
TUBB8 variants cause oocyte maturation arrest, fertilization failure, embryonic development defects, and show different inheritance patterns
PMID: 38007525
3
TUBB8 variants cause kinetochore-microtubule attachment defects, increase aneuploidy rates, and are linked to recurrent miscarriages
PMID: 37875488
4
Novel TUBB8 mutations identified in patients with maturation and developmental arrest
PMID: 36335766
5
TUBB8 variants found in Iranian patients with oocyte maturation and cleavage arrest, supporting genetic screening recommendations
PMID: 37597348
Disease Associationsⓘ21
Female infertility due to fertilization defectOpen Targets
0.76Strong
non-small cell lung carcinomaOpen Targets
0.61Moderate
breast cancerOpen Targets
0.60Moderate
breast neoplasmOpen Targets
0.60Moderate
breast carcinomaOpen Targets
0.60Moderate
neoplasmOpen Targets
0.60Moderate
goutOpen Targets
0.59Moderate
Hodgkins lymphomaOpen Targets
0.58Moderate
multiple myelomaOpen Targets
0.58Moderate
familial Mediterranean feverOpen Targets
0.58Moderate
cervical cancerOpen Targets
0.58Moderate
prostate cancerOpen Targets
0.58Moderate
diffuse large B-cell lymphomaOpen Targets
0.58Moderate
head and neck malignant neoplasiaOpen Targets
0.57Moderate
lymphomaOpen Targets
0.57Moderate
stomach neoplasmOpen Targets
0.57Moderate
prostate neoplasmOpen Targets
0.56Moderate
adenocarcinomaOpen Targets
0.56Moderate
head and neck neoplasiaOpen Targets
0.56Moderate
gastric cancerOpen Targets
0.56Moderate
Oocyte/zygote/embryo maturation arrest 2UniProt
Pathogenic Variants41
NM_177987.3(TUBB8):c.763G>A (p.Val255Met)Likely pathogenic
Inherited oocyte maturation defect|Oocyte maturation defect 2
★★☆☆2019→ Residue 255
NM_177987.3(TUBB8):c.1030T>A (p.Trp344Arg)Likely pathogenic
Oocyte maturation defect 2
★☆☆☆2026→ Residue 344
NM_177987.3(TUBB8):c.404_405dup (p.Thr136Ter)Likely pathogenic
Oocyte maturation defect 2
★☆☆☆2026→ Residue 136
NM_177987.3(TUBB8):c.880T>C (p.Phe294Leu)Likely pathogenic
Oocyte maturation defect 2
★☆☆☆2026→ Residue 294
NM_177987.3(TUBB8):c.735G>C (p.Gln245His)Likely pathogenic
Oocyte maturation defect 2
★☆☆☆2019→ Residue 245
NM_177987.3(TUBB8):c.785G>A (p.Arg262Gln)Pathogenic
Oocyte maturation defect 2
★☆☆☆2016→ Residue 262
NM_177987.3(TUBB8):c.527C>T (p.Ser176Leu)Pathogenic
Oocyte maturation defect 2
★☆☆☆2016→ Residue 176
NM_177987.3(TUBB8):c.900G>A (p.Met300Ile)Pathogenic
Oocyte maturation defect 2
★☆☆☆2016→ Residue 300
NM_177987.3(TUBB8):c.686T>C (p.Val229Ala)Pathogenic
Oocyte maturation defect 2
★☆☆☆2016→ Residue 229
NM_177987.3(TUBB8):c.1249G>A (p.Asp417Asn)Pathogenic
Oocyte maturation defect 2
★☆☆☆2016→ Residue 417
NM_177987.3(TUBB8):c.5G>A (p.Arg2Lys)Pathogenic
Oocyte maturation defect 2
★☆☆☆2016→ Residue 2
NM_177987.3(TUBB8):c.1088T>C (p.Met363Thr)Pathogenic
Oocyte maturation defect 2
★☆☆☆2016→ Residue 363
NM_177987.3(TUBB8):c.292G>A (p.Gly98Arg)Likely pathogenic
Oocyte maturation defect 2
★☆☆☆→ Residue 98
NM_177987.3(TUBB8):c.322G>A (p.Glu108Lys)Likely pathogenic
Oocyte maturation defect 2
★☆☆☆→ Residue 108
NM_177987.3(TUBB8):c.713C>T (p.Thr238Met)Pathogenic
Oocyte maturation defect 2
☆☆☆☆2023→ Residue 238
NM_177987.3(TUBB8):c.80_100del (p.Glu27_Ala33del)Pathogenic
Oocyte maturation defect 2
☆☆☆☆2023→ Residue 27
NM_177987.3(TUBB8):c.426dup (p.Thr143fs)Pathogenic
Oocyte maturation defect 2
☆☆☆☆2023→ Residue 143
NM_177987.3(TUBB8):c.922G>A (p.Gly308Ser)Pathogenic
Oocyte maturation defect 2
☆☆☆☆2021→ Residue 308
NM_177987.3(TUBB8):c.422G>C (p.Gly141Ala)Likely pathogenic
Oocyte maturation defect 2
☆☆☆☆2020→ Residue 141
NM_177987.3(TUBB8):c.136C>T (p.Arg46Cys)Likely pathogenic
Oocyte maturation defect 2
☆☆☆☆2020→ Residue 46
View on ClinVar ↗
Drug Targets87
ABT-751Phase II
Tubulin beta inhibitor
AGS-16C3FPhase II
Tubulin disrupting agent
renal cell carcinoma
ANETUMAB RAVTANSINEPhase II
Tubulin inhibitor
malignant pleural mesothelioma
ANG1005Phase II
Tubulin inhibitor
ANVATABART OPADOTINPhase II/III
Tubulin inhibitor
HER2 Positive Breast Carcinoma
APRUTUMAB IXADOTINPhase I
Fibroblast growth factor receptor 2 binding agent
cancer
ASG-5MEPhase I
Choline transporter-like protein 4 binding agent
Malignant Pancreatic Neoplasm
AVE-9633Phase I
Myeloid cell surface antigen CD33 binding agent
myeloid leukemia
AZINTUXIZUMAB VEDOTINPhase I
SLAM family member 7 binding agent
multiple myeloma
BELANTAMAB MAFODOTINApproved
Tumor necrosis factor receptor superfamily member 17 binding agent
multiple myeloma
BIIB-015Phase I
Teratocarcinoma-derived growth factor 1 binding agent
BIVATUZUMAB MERTANSINEUNKNOWN
Tubulin inhibitor
BMS-275183Phase II
Tubulin stabiliser
BRENTUXIMAB VEDOTINApproved
Tubulin inhibitor
CABAZITAXELApproved
Tubulin inhibitor
prostate cancer
CANTUZUMAB MERTANSINEPhase II
Tubulin inhibitor
non-small cell lung carcinoma
CANTUZUMAB RAVTANSINEPhase II
Mucin-1 binding agent
stomach neoplasm
COLCHICINEApproved
Tubulin inhibitor
familial Mediterranean fever
COLTUXIMAB RAVTANSINEPhase II
Tubulin inhibitor
diffuse large B-cell lymphoma
CROLIBULINPhase I/II
Tubulin inhibitor
DAVUNETIDEPhase III
Tubulin stabiliser
Cognitive impairment
DENINTUZUMAB MAFODOTINPhase II
B-lymphocyte antigen CD19 binding agent
diffuse large B-cell lymphoma
DEPATUXIZUMAB MAFODOTINPhase III
Epidermal growth factor receptor erbB1 binding agent
glioblastoma multiforme
DISITAMAB VEDOTINPhase III
Receptor tyrosine-protein kinase erbB-2 binding agent
breast cancer
DOCETAXELApproved
Tubulin inhibitor
DOCETAXEL ANHYDROUSApproved
Tubulin stabiliser
prostate cancer
DOLASTATIN-10Phase II
Tubulin inhibitor
ENAPOTAMAB VEDOTINPhase I/II
Tyrosine-protein kinase receptor UFO binding agent
ENFORTUMAB VEDOTINApproved
Nectin-4 binding agent
EPOTHILONE DPhase II
Tubulin stabiliser
breast cancer
ERIBULINApproved
Tubulin inhibitor
breast cancer
ERIBULIN MESYLATEApproved
Tubulin inhibitor
breast cancer
FOSBRETABULINPhase III
Tubulin disrupting agent
thyroid cancer
FOSBRETABULIN DISODIUMPhase II
Tubulin inhibitor
neuroendocrine carcinoma
FOSBRETABULIN TROMETHAMINEPhase II/III
Tubulin disrupting agent
ovarian cancer
GLEMBATUMUMAB VEDOTINApproved
Transmembrane glycoprotein NMB binding agent
lymphoma
IMGN-388Phase I
Vitronectin receptor alpha binding agent
INDATUXIMAB RAVTANSINEPhase II
Syndecan-1 binding agent
multiple myeloma
INDIBULINPhase II
Tubulin inhibitor
INDUSATUMAB VEDOTINPhase II
Heat-stable enterotoxin receptor binding agent
IXABEPILONEApproved
Tubulin inhibitor
breast cancer
KOS-1584Phase II
Tubulin stabiliser
non-small cell lung carcinoma
LADIRATUZUMAB VEDOTINPhase II
Zinc transporter ZIP6 binding agent
breast cancer
LAROTAXELPhase III
Tubulin stabiliser
urinary bladder carcinoma
LEXIBULINPhase II
Tubulin inhibitor
glioblastoma multiforme
LIFASTUZUMAB VEDOTINPhase II
Sodium-dependent phosphate transport protein 2B binding agent
ovarian cancer
LORVOTUZUMAB MERTANSINEPhase II
Neural cell adhesion molecule 1 binding agent
MECBOTAMAB VEDOTINPhase II
Tyrosine-protein kinase receptor UFO binding agent
ovarian cancer
MILATAXELPhase II
Tubulin inhibitor
MIRVETUXIMAB SORAVTANSINEApproved
Folate receptor alpha binding agent
ovarian cancer
MLN-2704Phase I/II
Glutamate carboxypeptidase II binding agent
prostate cancer
OMBRABULINPhase III
Tubulin inhibitor
sarcoma
PACLITAXELApproved
Tubulin inhibitor
PACLITAXEL DOCOSAHEXAENOIC ACIDPhase III
Tubulin stabiliser
non-small cell lung carcinoma
PACLITAXEL POLIGLUMEXApproved
Tubulin stabiliser
neoplasm
PATUPILONEPhase III
Tubulin stabiliser
PF-06263507Phase I
Tubulin inhibitor
PINATUZUMAB VEDOTINPhase II
CD22 binding agent
diffuse large B-cell lymphoma
PLINABULINPhase III
Tubulin inhibitor
non-small cell lung carcinoma
PLOCABULINPhase II
Tubulin inhibitor
colorectal cancer
POLATUZUMAB VEDOTINApproved
Tubulin inhibitor
diffuse large B-cell lymphoma
PRALUZATAMAB RAVTANSINEPhase II
Tubulin inhibitor
neoplasm
RG-7598Phase I
Fc receptor-like protein 5 binding agent
multiple myeloma
RG-7600Phase I
Tubulin inhibitor
ovarian cancer
RG-7636Phase I
Tubulin inhibitor
melanoma
RG-7841Phase I
Lymphocyte antigen 6E binding agent
SAGOPILONEPhase II
Tubulin stabiliser
breast cancer
SAR-566658Phase II
Tubulin inhibitor
triple-negative breast cancer
SOBLIDOTINPhase II
Tubulin inhibitor
SOFITUZUMAB VEDOTINPhase I
Mucin-16 binding agent
fallopian tube cancer
T-900607Phase II
Tubulin disrupting agent
hepatocellular carcinoma
TELISOTUZUMAB VEDOTINPhase III
Hepatocyte growth factor receptor binding agent
non-small cell lung carcinoma
TISOTUMAB VEDOTINApproved
Coagulation factor III binding agent
cervical cancer
TRASTUZUMAB BOTIDOTINPhase III
Tubulin inhibitor
HER2 Positive Breast Carcinoma
TRASTUZUMAB EMTANSINEApproved
Receptor protein-tyrosine kinase erbB-2 binding agent
TUSAMITAMAB RAVTANSINEPhase III
Carcinoembryonic antigen-related cell adhesion molecule 5 binding agent
non-small cell lung carcinoma
VANDORTUZUMAB VEDOTINPhase I
Metalloreductase STEAP1 binding agent
prostate cancer
VERUBULINPhase II
Tubulin disrupting agent
VINBLASTINEApproved
Tubulin inhibitor
VINBLASTINE SULFATEApproved
Tubulin inhibitor
lymphoma
VINCRISTINEApproved
Tubulin inhibitor
VINCRISTINE SULFATEApproved
Tubulin inhibitor
VINFLUNINEApproved
Tubulin inhibitor
VINFLUNINE DITARTRATEApproved
Tubulin inhibitor
benign urinary system neoplasm
VINORELBINEApproved
Tubulin inhibitor
VINORELBINE TARTRATEApproved
Tubulin inhibitor
VORSETUZUMAB MAFODOTINPhase I
Tubulin inhibitor
renal cell carcinoma
Related Genes
DYNC1I1Protein interaction96%DYNC1I2Protein interaction96%GJA1Protein interaction96%MAPTProtein interaction96%TUBA1AProtein interaction96%ARHGEF2Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Ovary
80%
Lung
20%
Liver
20%
Bone Marrow
20%
Heart
0%
Gene Interaction Network
Click a node to explore
TUBB8DYNC1I1DYNC1I2GJA1MAPTTUBA1AARHGEF2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q3ZCM7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.64–1.29]
RankingsWhere TUBB8 stands among ~20K protein-coding genes
  • #4,567of 20,598
    Most Researched105 · top quartile
  • #66of 1,025
    FDA-Approved Drug Targets25 · top 10%
  • #1,512of 5,498
    Most Pathogenic Variants41
  • #13,546of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedTUBB8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
PMID: 26789871
N Engl J Med · 2016
1.00
2
Genetic factors as potential molecular markers of human oocyte and embryo quality.
PMID: 33895934
J Assist Reprod Genet · 2021
0.90
3
Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.
PMID: 38007525
J Ovarian Res · 2023
0.80
4
Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
PMID: 36977357
Hum Reprod Update · 2023
0.70
5
Novel mutations in TUBB8 and ZP3 cause human oocyte maturation arrest and female infertility.
PMID: 36335766
Eur J Obstet Gynecol Reprod Biol · 2022
0.60