1. Gene
  2. TUBB8 - tubulin beta 8 class VIII Gene

TUBB8 - tubulin beta 8 class VIII Gene

中文名称:微管蛋白 8 第八类

种属: Homo sapiens

同用名: OOMD; OOMD2; bA631M21.2

基因 ID: 347688 | 基因类型: protein coding

关于 TUBB8

Cytogenetic location: 10p15.3 Genomic coordinates (GRCh38): 10:46,455-76,621 (from NCBI)

This gene has 7 transcripts (splice variants), 20 orthologues, 23 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质代表卵母细胞和早期胚胎的主要 β-微管蛋白亚基。该基因的缺陷是灵长类动物特有的,是导致卵母细胞成熟缺陷 2 和不育的原因。[RefSeq 提供,2016 年 3 月]

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]

TUBB8 基因产物(3)

mRNA Protein Name
NM_001389618.1 NP_001376547.1 tubulin beta-8 chain isoform 2
NM_001389619.1 NP_001376548.1 tubulin beta-8 chain isoform 2
NM_177987.3 NP_817124.1 tubulin beta-8 chain isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in oocyte maturation IMP
IMP: 通过突变表型推断
26789871 GOA
involved in spindle assembly involved in female meiosis IMP
IMP: 通过突变表型推断
26789871 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in meiotic spindle IDA
IDA: 通过直接分析推断
26789871 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TUBB8 蛋白结构

Tubulin

Tubulin: Tubulin/FtsZ family, GTPase domain (3 - 222)

Tubulin_C

Tubulin_C: Tubulin C-terminal domain (261 - 382)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 444 a.a.
蛋白主名 其他名称

tubulin beta-8 chain

HSA10p15 beta-tubulin 4Q

关联疾病

疾病名称 别名
Oocyte Maturation Defect 2

OOMD2

Oocyte Maturation Defect, Type 2

Female Infertility Due To Oocyte Meiotic Arrest
Tubulin, Beta
Infertility
Tubulinopathy

Tubulinopathies

Leukodystrophy, Hypomyelinating, 6

Habc

Hypomyelinating Leukodystrophy 6

HLD6

H-Abc

Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum

Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum

HLD

Leukodystrophy, Hypomyelinating, Type 6

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome

Deafness-Hermann Type Symphalangism Syndrome

Facio-Audio-Symphalangism

Hearing Loss-Hermann Type Symphalangism Syndrome

Wl Syndrome

Multiple Synostosis Syndrome

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma