1. Gene
  2. CAMSAP2 - calmodulin regulated spectrin associated protein family member 2 Gene

CAMSAP2 - calmodulin regulated spectrin associated protein family member 2 Gene

中文名称:钙调蛋白调节血影蛋白相关蛋白家族成员 2

种属: Homo sapiens

同用名: CAMSAP1L1

基因 ID: 23271 | 基因类型: protein coding

关于 CAMSAP2

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:200,738,893-200,860,704 (from NCBI)

This gene has 6 transcripts (splice variants), 277 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 24.6), thyroid (RPKM 11.0) and 23 other tissues.

功能概要

启用微管负端结合活动。参与几个过程,包括轴突发育;树突发育的调节;和细胞器组织的调节。位于胞质溶胶和微管末端。与高尔基体共定位;中心体;和微管负端。 [由基因组资源联盟提供,2022 年 4 月]

Enables microtubule minus-end binding activity. Involved in several processes, including axon development; regulation of dendrite development; and regulation of organelle organization. Located in cytosol and microtubule end. Colocalizes with Golgi apparatus; centrosome; and microtubule minus-end. [provided by Alliance of Genome Resources, Apr 2022]

CAMSAP2 基因产物(4)

mRNA Protein Name
NM_001297707.3 NP_001284636.1 calmodulin-regulated spectrin-associated protein 2 isoform 1
NM_001297708.3 NP_001284637.1 calmodulin-regulated spectrin-associated protein 2 isoform 3
NM_001389638.1 NP_001376567.1 calmodulin-regulated spectrin-associated protein 2 isoform 4
NM_203459.4 NP_982284.1 calmodulin-regulated spectrin-associated protein 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 microtubule minus-end binding IDA
IDA: 通过直接分析推断
23169647 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20195357 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in axon development IDA
IDA: 通过直接分析推断
24908486 GOA
involved in microtubule cytoskeleton organization IDA
IDA: 通过直接分析推断
24486153 GOA
involved in microtubule cytoskeleton organization IMP
IMP: 通过突变表型推断
23169647 GOA
involved in regulation of Golgi organization IDA
IDA: 通过直接分析推断
27666745 GOA
involved in regulation of dendrite development IDA
IDA: 通过直接分析推断
24908486 GOA
involved in regulation of microtubule polymerization IDA
IDA: 通过直接分析推断
24486153 GOA
involved in regulation of organelle organization IMP
IMP: 通过突变表型推断
23169647 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with Golgi apparatus IDA
IDA: 通过直接分析推断
27666745 GOA
colocalizes with centrosome IDA
IDA: 通过直接分析推断
23169647 GOA
colocalizes with microtubule minus-end IDA
IDA: 通过直接分析推断
24486153 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

CAMSAP2 蛋白结构

CH

CH: Calponin homology (CH) domain (178 - 335)

CAMSAP_CKK

CAMSAP_CKK: Microtubule-binding calmodulin-regulated spectrin-associated (1349 - 1468)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1489 a.a.
蛋白主名 其他名称

calmodulin-regulated spectrin-associated protein 2

calmodulin-regulated spectrin-associated protein 1-like protein 1

CAMSAP2 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
种属内
CAMSAP2 Q08AD1 EEF1D Homo sapiens P29692
TAP
20195357
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
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

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
Macaca mulatta CAMSAP2 VGNC VGNC:70666
Canis familiaris CAMSAP2 VGNC VGNC:38690
Rattus norvegicus CAMSAP2 RGD RGD:1310950
Felis catus CAMSAP2 VGNC VGNC:60342
Mus musculus CAMSAP2 MGD MGI:1922434
Bos taurus CAMSAP2 VGNC VGNC:58365