EPM2AIP1 - EPM2A interacting protein 1 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 9852

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	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS04442	EPM2AIP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	EPM2AIP1	NCBI