1. Gene
  2. TUBGCP2 - tubulin gamma complex associated protein 2 Gene

TUBGCP2 - tubulin gamma complex associated protein 2 Gene

中文名称:微管蛋白γ复合体相关蛋白 2

种属: Homo sapiens

同用名: ALP4; GCP2; GCP-2; SPC97; h103p; hGCP2; SPBC97; Spc97p; hSpc97; Grip103; PAMDDFS

基因 ID: 10844 | 基因类型: protein coding

关于 TUBGCP2

Cytogenetic location: 10q26.3 Genomic coordinates (GRCh38): 10:133,278,635-133,312,337 (from NCBI)

This gene has 35 transcripts (splice variants), 205 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 14.0), kidney (RPKM 12.2) and 25 other tissues.

功能概要

预计会启用 γ-微管蛋白结合活性。预测有助于微管负端结合活动。参与大脑发育和神经元迁移。位于中心体和核质中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable gamma-tubulin binding activity. Predicted to contribute to microtubule minus-end binding activity. Involved in brain development and neuron migration. Located in centrosome and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TUBGCP2 基因产物(3)

mRNA Protein Name
NM_001256617.2 NP_001243546.1 gamma-tubulin complex component 2 isoform 1
NM_001256618.2 NP_001243547.1 gamma-tubulin complex component 2 isoform 3
NM_006659.4 NP_006650.1 gamma-tubulin complex component 2 isoform 2
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
16980960 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brain development IMP
IMP: 通过突变表型推断
31630790 GOA
involved in neuron migration IMP
IMP: 通过突变表型推断
31630790 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
located in microtubule organizing center IDA
IDA: 通过直接分析推断
9566967 GOA
located in microtubule organizing center IMP
IMP: 通过突变表型推断
31630790 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

TUBGCP2 蛋白结构

Spc97_Spc98

Spc97_Spc98: Spc97 / Spc98 family (220 - 738)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 902 a.a.
蛋白主名 其他名称

gamma-tubulin complex component 2

gamma-ring complex protein 103 kDa

TUBGCP2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra TUBGCP2 Q9BSJ2 SERTAD3 Homo sapiens Q9UJW9
Y2H Prey Pooling
32296183
Intra TUBGCP2 Q9BSJ2 SERTAD3 Homo sapiens Q9UJW9
Validated Y2H
32296183
Intra TUBGCP2 Q9BSJ2 SERTAD3 Homo sapiens Q9UJW9
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures

PAMDDFS

Neuronal Migration Disorders

Abnormality Of Neuronal Migration

Malformations Of Cortical Development, Group Ii

Neuronal Dysmigration Syndromes

Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Streptococcal Meningitis
Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome

22q11.2 Microduplication Syndrome

22q11.2 Duplication Syndrome

Duplication 22q11.2

Trisomy 22q11.2

22q11.2 Duplication

Dup(22)(Q11)

Chromosome 15q11.2 Deletion Syndrome

15q11.2 Microdeletion Syndrome

15q11.2 Bp1-Bp2 Microdeletion Syndrome

Del(15)(Q11.2)

Monosomy 15q11.2

15q11.2 Microdeletion

Chromosome 15q11.2 Deletion

Chromosome 15q11.2 Microdeletion

Chromosome Deletion Syndrome 15q11.2

Microdeletion 15q11.2

Duplication 15q11-Q13 Syndrome

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Diamond-Blackfan Anemia 1

Aase Syndrome

DBA1

Erythrogenesis Imperfecta

Aase-Smith Syndrome Ii

Dba

Blackfan-Diamond Syndrome

Bds

Anemia, Congenital Hypoplastic, Of Blackfan And Diamond

Anemia, Congenital Erythroid Hypoplastic

Red Cell Aplasia, Pure, Hereditary

Aregenerative Anemia, Chronic Congenital

Rps19-Related Diamond-Blackfan Anemia

Chronic Congenital Aregenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Pure Hereditary Red Cell Aplasia

Anemia, Diamond-Blackfan, Type 1

Anemia, Diamond-Blackfan

Aase Smith Syndrome 2

Familial Hypoplastic Anaemia With Malformations

Constitutional Pure Red Cell Aplasia

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TUBGCP2 RGD RGD:1309597
Bos taurus TUBGCP2 VGNC VGNC:36512
Mus musculus TUBGCP2 MGD MGI:1921487
Felis catus TUBGCP2 VGNC VGNC:66704
Macaca mulatta TUBGCP2 VGNC VGNC:79154
Canis familiaris TUBGCP2 VGNC VGNC:53016