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

EPM2AIP1 - EPM2A interacting protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 9852 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_014805.4 NP_055620.1 EPM2A-interacting protein 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

EPM2A-interacting protein 1

EPM2A (laforin) interacting protein 1

EPM2AIP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
EPM2AIP1 Q7L775 ZBTB14 Homo sapiens O43829
Validated Y2H
25416956
Intra
EPM2AIP1 Q7L775 ZBTB14 Homo sapiens O43829
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 ZBTB14 Homo sapiens O43829
Y2H Array
25416956
Intra
EPM2AIP1 Q7L775 ZBTB14 Homo sapiens O43829
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 TFIP11 Homo sapiens Q9UBB9
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 TFIP11 Homo sapiens Q9UBB9
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 TFIP11 Homo sapiens Q9UBB9
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 TNKS Homo sapiens O95271
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 TNKS Homo sapiens O95271
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 ZIM2 Homo sapiens Q9NZV7
Complementation
32296183
Intra
EPM2AIP1 Q7L775 ZIM2 Homo sapiens Q9NZV7
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 ZIM2 Homo sapiens Q9NZV7
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 ZIM2 Homo sapiens Q9NZV7
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 USP54 Homo sapiens Q70EL1-9
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 USP54 Homo sapiens Q70EL1-9
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 LIN52 Homo sapiens Q52LA3
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 LIN52 Homo sapiens Q52LA3
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 TRIM54 Homo sapiens Q9BYV2
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 TRIM54 Homo sapiens Q9BYV2
Y2H Array
25416956
Intra
EPM2AIP1 Q7L775 TRIM54 Homo sapiens Q9BYV2
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 TRIM54 Homo sapiens Q9BYV2
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 TRIM54 Homo sapiens Q9BYV2
Y2H Prey Pooling
25416956
Intra
EPM2AIP1 Q7L775 DTX3 Homo sapiens Q8N9I9
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 DTX3 Homo sapiens Q8N9I9
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 DTX3 Homo sapiens Q8N9I9
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 VPS52 Homo sapiens Q8N1B4
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 VPS52 Homo sapiens Q8N1B4
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 VPS52 Homo sapiens Q8N1B4
Y2H Prey Pooling
25416956
Intra
EPM2AIP1 Q7L775 VPS52 Homo sapiens Q8N1B4
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 LDB2 Homo sapiens O43679
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 LDB2 Homo sapiens O43679
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 C1orf50 Homo sapiens Q9BV19
Validated Y2H
25416956
Intra
EPM2AIP1 Q7L775 C1orf50 Homo sapiens Q9BV19
Y2H Array
25416956
Intra
EPM2AIP1 Q7L775 KRT75 Homo sapiens O95678
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 REL Homo sapiens Q04864
Y2H Array
25416956
Intra
EPM2AIP1 Q7L775 ACTN1 Homo sapiens P12814
Y2H Array
25416956
Intra
EPM2AIP1 Q7L775 ACTN1 Homo sapiens P12814
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 ACTN1 Homo sapiens P12814
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 KRT16 Homo sapiens P08779
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 KRT16 Homo sapiens P08779
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 ZSCAN18 Homo sapiens Q8TBC5
Anti Tag CoIP
33961781
Intra
EPM2AIP1 Q7L775 ZSCAN18 Homo sapiens Q8TBC5
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 ZSCAN18 Homo sapiens Q8TBC5
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 NOC4L Homo sapiens Q9BVI4
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 ZNF620 Homo sapiens Q6ZNG0
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 ZNF620 Homo sapiens Q6ZNG0
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 KCTD9 Homo sapiens Q7L273
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 KCTD9 Homo sapiens Q7L273
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 OTUD7B Homo sapiens Q6GQQ9
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 OTUD7B Homo sapiens Q6GQQ9
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 PSMA7 Homo sapiens O14818
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 PRTFDC1 Homo sapiens Q9NRG1
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 PRTFDC1 Homo sapiens Q9NRG1
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 PRTFDC1 Homo sapiens Q9NRG1
Validated Y2H
25416956
Intra
EPM2AIP1 Q7L775 PRTFDC1 Homo sapiens Q9NRG1
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 TRA2B Homo sapiens P62995
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 TRA2B Homo sapiens P62995
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 LNX1 Homo sapiens Q8TBB1
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 FHL3 Homo sapiens Q13643
Validated Y2H
25416956
Intra
EPM2AIP1 Q7L775 APPL2 Homo sapiens Q8NEU8
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 APPL2 Homo sapiens Q8NEU8
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 APPL2 Homo sapiens Q8NEU8
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 GFAP Homo sapiens P14136
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 GFAP Homo sapiens P14136
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 CCNB1IP1 Homo sapiens Q9NPC3
Y2H Array
31515488
Intra
EPM2AIP1 Q7L775 CCNB1IP1 Homo sapiens Q9NPC3
Y2H Prey Pooling
25416956
Intra
EPM2AIP1 Q7L775 CPSF7 Homo sapiens Q8N684
Y2H Array
25416956
Intra
EPM2AIP1 Q7L775 MEOX2 Homo sapiens P50222
Y2H Array
25416956
Intra
EPM2AIP1 Q7L775 PICK1 Homo sapiens Q9NRD5
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 PICK1 Homo sapiens Q9NRD5
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 PICK1 Homo sapiens Q9NRD5
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 RBMY1F Homo sapiens Q15415
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 RBMY1F Homo sapiens Q15415
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 CNTROB Homo sapiens Q8N137
Y2H Array
32296183
Intra
EPM2AIP1 Q7L775 CNTROB Homo sapiens Q8N137
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 CNTROB Homo sapiens Q8N137
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 TRIM50 Homo sapiens Q86XT4
Y2H Prey Pooling
32296183
Intra
EPM2AIP1 Q7L775 TRIM50 Homo sapiens Q86XT4
Validated Y2H
32296183
Intra
EPM2AIP1 Q7L775 TRIM50 Homo sapiens Q86XT4
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04442 EPM2AIP1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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