2. Gene
  3. ATXN2L - ataxin 2 like Gene

ATXN2L - ataxin 2 like Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ataxin 2 样

种属: Homo sapiens

同用名: A2D; A2LG; A2LP; A2RP

基因 ID: 11273 | 基因类型: protein coding

关于 ATXN2L

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:28,822,999-28,837,232 (from NCBI)

This gene has 26 transcripts (splice variants), 229 orthologues and 1 paralogue. Broad expression in testis (RPKM 66.0), spleen (RPKM 26.9) and 25 other tissues.

功能概要

该基因编码功能未知的 ataxin 2 型相关蛋白。这种蛋白质是脊髓小脑性共济失调 (SCAs) 家族的成员，该家族与一组复杂的神经退行性疾病有关。已经为该基因发现了几种编码不同亚型的可变剪接转录物。[RefSeq 提供，2008 年 7 月]

This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATXN2L 基因产物(45)

mRNA Protein Name
NM_001308230.2 NP_001295159.1 ataxin-2-like protein isoform 7
NM_001387166.1 NP_001374095.1 ataxin-2-like protein isoform 8
NM_001387167.1 NP_001374096.1 ataxin-2-like protein isoform 3
NM_001387168.1 NP_001374097.1 ataxin-2-like protein isoform 3
NM_001387169.1 NP_001374098.1 ataxin-2-like protein isoform 9
NM_001387170.1 NP_001374099.1 ataxin-2-like protein isoform 9
NM_001387171.1 NP_001374100.1 ataxin-2-like protein isoform 10
NM_001387172.1 NP_001374101.1 ataxin-2-like protein isoform 11
NM_001387173.1 NP_001374102.1 ataxin-2-like protein isoform 12
NM_001387174.1 NP_001374103.1 ataxin-2-like protein isoform 13
NM_001387175.1 NP_001374104.1 ataxin-2-like protein isoform 13
NM_001387176.1 NP_001374105.1 ataxin-2-like protein isoform 13
NM_001387177.1 NP_001374106.1 ataxin-2-like protein isoform 13
NM_001387178.1 NP_001374107.1 ataxin-2-like protein isoform 14
NM_001387179.1 NP_001374108.1 ataxin-2-like protein isoform 15
NM_001387180.1 NP_001374109.1 ataxin-2-like protein isoform 16
NM_001387181.1 NP_001374110.1 ataxin-2-like protein isoform 17
NM_001387182.1 NP_001374111.1 ataxin-2-like protein isoform 18
NM_001387183.1 NP_001374112.1 ataxin-2-like protein isoform 19
NM_001387184.1 NP_001374113.1 ataxin-2-like protein isoform 20
NM_001387185.1 NP_001374114.1 ataxin-2-like protein isoform 21
NM_001387186.1 NP_001374115.1 ataxin-2-like protein isoform 22
NM_001387187.1 NP_001374116.1 ataxin-2-like protein isoform 23
NM_001387188.1 NP_001374117.1 ataxin-2-like protein isoform 24
NM_001387189.1 NP_001374118.1 ataxin-2-like protein isoform 25
NM_001387190.1 NP_001374119.1 ataxin-2-like protein isoform 26
NM_001387191.1 NP_001374120.1 ataxin-2-like protein isoform 27
NM_001387192.1 NP_001374121.1 ataxin-2-like protein isoform 28
NM_001387193.1 NP_001374122.1 ataxin-2-like protein isoform 29
NM_001387194.1 NP_001374123.1 ataxin-2-like protein isoform 30
NM_001387195.1 NP_001374124.1 ataxin-2-like protein isoform 31
NM_001387196.1 NP_001374125.1 ataxin-2-like protein isoform 31
NM_001387197.1 NP_001374126.1 ataxin-2-like protein isoform 32
NM_001387198.1 NP_001374127.1 ataxin-2-like protein isoform 31
NM_001387199.1 NP_001374128.1 ataxin-2-like protein isoform 33
NM_001387200.1 NP_001374129.1 ataxin-2-like protein isoform 34
NM_001387202.1 NP_001374131.1 ataxin-2-like protein isoform 35
NM_001387203.1 NP_001374132.1 ataxin-2-like protein isoform 36
NM_001387204.1 NP_001374133.1 ataxin-2-like protein isoform 37
NM_007245.4 NP_009176.2 ataxin-2-like protein isoform 1
NM_017492.4 NP_059867.3 ataxin-2-like protein isoform 6
NM_145714.3 NP_663760.1 ataxin-2-like protein isoform 2
NM_148414.3 NP_680780.1 ataxin-2-like protein isoform 3
NM_148415.3 NP_680781.1 ataxin-2-like protein isoform 4
NM_148416.3 NP_680782.1 ataxin-2-like protein isoform 5
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
11784712 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA metabolic process IMP
IMP: 通过突变表型推断
23209657 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasmic stress granule IDA
IDA: 通过直接分析推断
23209657 GOA
located in membrane IDA
IDA: 通过直接分析推断
11784712 GOA
located in nuclear speck IDA
IDA: 通过直接分析推断
23209657 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

ATXN2L 蛋白结构

SM-ATX

SM-ATX: Ataxin 2 SM domain (122 - 191)

LsmAD

LsmAD: LsmAD domain (264 - 333)

PAM2

PAM2: Ataxin-2 C-terminal region (654 - 669)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1075 a.a.
蛋白主名 其他名称

ataxin-2-like protein

ataxin 2 related protein

ATXN2L 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
ATXN2L Q8WWM7 G3BP1 Homo sapiens Q13283
Anti Bait CoIP
23209657
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
Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2

SCA2

Amyotrophic Lateral Sclerosis 13

Spinocerebellar Degeneration With Slow Eye Movements

SDSEM

Spinocerebellar Atrophy Ii

Olivopontocerebellar Atrophy Ii

Opca2

Cerebellar Degeneration With Slow Eye Movements

Wadia-Swami Syndrome

Amyotrophic Lateral Sclerosis Type 13

ALS13

Olivopontocerebellar Atrophy Holguin Type

Spinocerebellar Ataxia Cuban Type

Olivopontocerebellar Atrophy, Holguin Type

Spinocerebellar Ataxia, Cuban Type

Amyotrophic Lateral Sclerosis, Susceptibility To, 13

Olivopontocerebellar Atrophy 2

Sca 2

Spinocerebellar Ataxia With Slow Eye Movements

Spinocerebellar Atrophy 2

Wadia Swami Syndrome

Opca Ii

Spinocerebellar Ataxia-2

Ataxia, Spinocerebellar, Type 2
Combined Oxidative Phosphorylation Deficiency 4

COXPD4

Combined Oxidative Phosphorylation Defect Type 4

Combined Oxidative Phosphorylation Deficiency, Type 4
Alkhurma Hemorrhagic Fever

Alkhumra Haemorrhagic Fever
Algoneurodystrophy

Reflex Sympathetic Dystrophy

Algoneurodystrophy, Site Unspecified
Kyasanur Forest Disease

Kfd

Monkey Fever

Kfd Virus

Kyasanur Hemorrhagic Fever

Monkey Disease

Monkey Diseases

Kfd - [ Kyasanur Forest Disease]

Monkey Sickness
Niemann-Pick Disease, Type C2

NPC2

Niemann-Pick Disease Type C2

Niemann-Pick C2 Disease

Niemann-Pick Disease C2
Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome
Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01257 ATXN2L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus ATXN2L VGNC VGNC:26341
Rattus norvegicus ATXN2L RGD RGD:1565868
Macaca mulatta ATXN2L VGNC VGNC:70159
Mus musculus ATXN2L MGD MGI:2446242
Felis catus ATXN2L VGNC VGNC:60038
Canis familiaris ATXN2L VGNC VGNC:38302
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