1. Gene
  2. EPM2AIP1 - EPM2A interacting protein 1 Gene

EPM2AIP1 - EPM2A interacting protein 1 Gene

中文名称:EPM2A 相互作用蛋白 1

种属: Homo sapiens

基因 ID: 9852 | 基因类型: protein coding

关于 EPM2AIP1

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:36,985,043-36,993,131 (from NCBI)

This gene has 3 transcripts (splice variants), 310 orthologues and 18 paralogues.

功能概要

编码 laforin 的 EPM2A 基因在青少年进行性肌阵挛性癫痫的常染色体隐性遗传形式中发生突变。该基因编码的蛋白质与 laforin 结合,但其功能尚不清楚。这个基因是无内含子的。[RefSeq 提供,2008 年 10 月]

The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]

EPM2AIP1 基因产物(1)

mRNA Protein Name
NM_014805.4 NP_055620.1 EPM2A-interacting protein 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 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
蛋白主名 其他名称

EPM2A-interacting protein 1

EPM2A (laforin) interacting protein 1

EPM2AIP1 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
EPM2AIP1 Q7L775 ZBTB14 Homo sapiens O43829 25416956
种属内
EPM2AIP1 Q7L775 ZBTB14 Homo sapiens O43829 32296183
种属内
EPM2AIP1 Q7L775 ZBTB14 Homo sapiens O43829 25416956
种属内
EPM2AIP1 Q7L775 ZBTB14 Homo sapiens O43829 32296183
种属内
EPM2AIP1 Q7L775 TFIP11 Homo sapiens Q9UBB9 32296183
种属内
EPM2AIP1 Q7L775 TFIP11 Homo sapiens Q9UBB9 32296183
种属内
EPM2AIP1 Q7L775 TFIP11 Homo sapiens Q9UBB9 32296183
种属内
EPM2AIP1 Q7L775 TNKS Homo sapiens O95271 32296183
种属内
EPM2AIP1 Q7L775 TNKS Homo sapiens O95271 32296183
种属内
EPM2AIP1 Q7L775 ZIM2 Homo sapiens Q9NZV7 32296183
种属内
EPM2AIP1 Q7L775 ZIM2 Homo sapiens Q9NZV7 32296183
种属内
EPM2AIP1 Q7L775 ZIM2 Homo sapiens Q9NZV7 32296183
种属内
EPM2AIP1 Q7L775 ZIM2 Homo sapiens Q9NZV7 32296183
种属内
EPM2AIP1 Q7L775 USP54 Homo sapiens Q70EL1-9 32296183
种属内
EPM2AIP1 Q7L775 USP54 Homo sapiens Q70EL1-9 32296183
种属内
EPM2AIP1 Q7L775 LIN52 Homo sapiens Q52LA3 32296183
种属内
EPM2AIP1 Q7L775 LIN52 Homo sapiens Q52LA3 32296183
种属内
EPM2AIP1 Q7L775 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
EPM2AIP1 Q7L775 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
EPM2AIP1 Q7L775 TRIM54 Homo sapiens Q9BYV2 32296183
种属内
EPM2AIP1 Q7L775 TRIM54 Homo sapiens Q9BYV2 25416956
种属内
EPM2AIP1 Q7L775 TRIM54 Homo sapiens Q9BYV2 32296183
种属内
EPM2AIP1 Q7L775 TRIM54 Homo sapiens Q9BYV2 32296183
种属内
EPM2AIP1 Q7L775 TRIM54 Homo sapiens Q9BYV2 25416956
种属内
EPM2AIP1 Q7L775 DTX3 Homo sapiens Q8N9I9 32296183
种属内
EPM2AIP1 Q7L775 DTX3 Homo sapiens Q8N9I9 32296183
种属内
EPM2AIP1 Q7L775 DTX3 Homo sapiens Q8N9I9 32296183
种属内
EPM2AIP1 Q7L775 VPS52 Homo sapiens Q8N1B4 32296183
种属内
EPM2AIP1 Q7L775 VPS52 Homo sapiens Q8N1B4 32296183
种属内
EPM2AIP1 Q7L775 VPS52 Homo sapiens Q8N1B4 25416956
种属内
EPM2AIP1 Q7L775 VPS52 Homo sapiens Q8N1B4 32296183
种属内
EPM2AIP1 Q7L775 LDB2 Homo sapiens O43679 32296183
种属内
EPM2AIP1 Q7L775 LDB2 Homo sapiens O43679 32296183
种属内
EPM2AIP1 Q7L775 C1orf50 Homo sapiens Q9BV19 25416956
种属内
EPM2AIP1 Q7L775 C1orf50 Homo sapiens Q9BV19 25416956
种属内
EPM2AIP1 Q7L775 KRT75 Homo sapiens O95678 32296183
种属内
EPM2AIP1 Q7L775 REL Homo sapiens Q04864 25416956
种属内
EPM2AIP1 Q7L775 ACTN1 Homo sapiens P12814 25416956
种属内
EPM2AIP1 Q7L775 ACTN1 Homo sapiens P12814 32296183
种属内
EPM2AIP1 Q7L775 ACTN1 Homo sapiens P12814 32296183
种属内
EPM2AIP1 Q7L775 KRT16 Homo sapiens P08779 32296183
种属内
EPM2AIP1 Q7L775 KRT16 Homo sapiens P08779 32296183
种属内
EPM2AIP1 Q7L775 ZSCAN18 Homo sapiens Q8TBC5 33961781
种属内
EPM2AIP1 Q7L775 ZSCAN18 Homo sapiens Q8TBC5 32296183
种属内
EPM2AIP1 Q7L775 ZSCAN18 Homo sapiens Q8TBC5 32296183
种属内
EPM2AIP1 Q7L775 NOC4L Homo sapiens Q9BVI4 32296183
种属内
EPM2AIP1 Q7L775 ZNF620 Homo sapiens Q6ZNG0 32296183
种属内
EPM2AIP1 Q7L775 ZNF620 Homo sapiens Q6ZNG0 32296183
种属内
EPM2AIP1 Q7L775 KCTD9 Homo sapiens Q7L273 32296183
种属内
EPM2AIP1 Q7L775 KCTD9 Homo sapiens Q7L273 32296183
种属内
EPM2AIP1 Q7L775 OTUD7B Homo sapiens Q6GQQ9 32296183
种属内
EPM2AIP1 Q7L775 OTUD7B Homo sapiens Q6GQQ9 32296183
种属内
EPM2AIP1 Q7L775 PSMA7 Homo sapiens O14818 32296183
种属内
EPM2AIP1 Q7L775 PRTFDC1 Homo sapiens Q9NRG1 32296183
种属内
EPM2AIP1 Q7L775 PRTFDC1 Homo sapiens Q9NRG1 32296183
种属内
EPM2AIP1 Q7L775 PRTFDC1 Homo sapiens Q9NRG1 25416956
种属内
EPM2AIP1 Q7L775 PRTFDC1 Homo sapiens Q9NRG1 32296183
种属内
EPM2AIP1 Q7L775 HSF2BP Homo sapiens O75031 32296183
种属内
EPM2AIP1 Q7L775 HSF2BP Homo sapiens O75031 32296183
种属内
EPM2AIP1 Q7L775 TRA2B Homo sapiens P62995 32296183
种属内
EPM2AIP1 Q7L775 TRA2B Homo sapiens P62995 32296183
种属内
EPM2AIP1 Q7L775 LNX1 Homo sapiens Q8TBB1 32296183
种属内
EPM2AIP1 Q7L775 FHL3 Homo sapiens Q13643 25416956
种属内
EPM2AIP1 Q7L775 APPL2 Homo sapiens Q8NEU8 32296183
种属内
EPM2AIP1 Q7L775 APPL2 Homo sapiens Q8NEU8 32296183
种属内
EPM2AIP1 Q7L775 APPL2 Homo sapiens Q8NEU8 32296183
种属内
EPM2AIP1 Q7L775 GFAP Homo sapiens P14136 32296183
种属内
EPM2AIP1 Q7L775 GFAP Homo sapiens P14136 32296183
种属内
EPM2AIP1 Q7L775 CCNB1IP1 Homo sapiens Q9NPC3 31515488
种属内
EPM2AIP1 Q7L775 CCNB1IP1 Homo sapiens Q9NPC3 25416956
种属内
EPM2AIP1 Q7L775 CPSF7 Homo sapiens Q8N684 25416956
种属内
EPM2AIP1 Q7L775 MEOX2 Homo sapiens P50222 25416956
种属内
EPM2AIP1 Q7L775 PICK1 Homo sapiens Q9NRD5 32296183
种属内
EPM2AIP1 Q7L775 PICK1 Homo sapiens Q9NRD5 32296183
种属内
EPM2AIP1 Q7L775 PICK1 Homo sapiens Q9NRD5 32296183
种属内
EPM2AIP1 Q7L775 RBMY1F Homo sapiens Q15415 32296183
种属内
EPM2AIP1 Q7L775 RBMY1F Homo sapiens Q15415 32296183
种属内
EPM2AIP1 Q7L775 CNTROB Homo sapiens Q8N137 32296183
种属内
EPM2AIP1 Q7L775 CNTROB Homo sapiens Q8N137 32296183
种属内
EPM2AIP1 Q7L775 CNTROB Homo sapiens Q8N137 32296183
种属内
EPM2AIP1 Q7L775 TRIM50 Homo sapiens Q86XT4 32296183
种属内
EPM2AIP1 Q7L775 TRIM50 Homo sapiens Q86XT4 32296183
种属内
EPM2AIP1 Q7L775 TRIM50 Homo sapiens Q86XT4 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
Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

Myoclonus Epilepsy

Epilepsies, Myoclonic

Hyperinsulinemic Hypoglycemia, Familial, 6

Hyperinsulinism-Hyperammonemia Syndrome

HHF6

Familial Hyperinsulinemic Hypoglycemia 6

Hi/Ha Syndrome

Ha/Hi Syndrome

Hyperinsulinemic Hypoglycemia Familial 6

Hyperinsulinism Hyperammonemia Syndrome

Hhs

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

Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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
Mus musculus EPM2AIP1 MGD MGI:1925031
Macaca mulatta EPM2AIP1 VGNC VGNC:84184
Felis catus EPM2AIP1 VGNC VGNC:61911
Rattus norvegicus EPM2AIP1 RGD RGD:1310977
Canis familiaris EPM2AIP1 VGNC VGNC:40418
Bos taurus EPM2AIP1 VGNC VGNC:28545