ERMN - ermin Gene

Homo sapiens

Also known as JN; KIAA1189

Gene ID: 57471 | Gene type: protein coding

About ERMN

Cytogenetic location: 2q24.1 Genomic coordinates (GRCh38): 2:157,318,631-157,327,712 (from NCBI)

This gene has 9 transcripts (splice variants), 106 orthologues and 6 paralogues. Restricted expression toward brain (RPKM 77.3).

Summary

Predicted to enable actin filament binding activity. Involved in actin filament organization; regulation of cell projection organization; and regulation of cell shape. Located in cell cortex; internode region of axon; and paranode region of axon. [provided by Alliance of Genome Resources, Apr 2022]

ERMN Products(5)

mRNA	Protein	Name
NM_001009959.3	NP_001009959.1	ermin isoform a
NM_001304344.2	NP_001291273.1	ermin isoform b
NM_001304345.2	NP_001291274.1	ermin isoform b
NM_001304346.2	NP_001291275.1	ermin isoform c
NM_020711.3	NP_065762.1	ermin isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in actin filament organization	IDA IDA: Inferred from direct assay	20934411	GOA
involved in regulation of cell projection organization	IDA IDA: Inferred from direct assay	20934411	GOA
involved in regulation of cell shape	IDA IDA: Inferred from direct assay	20934411	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell cortex	IDA IDA: Inferred from direct assay	20934411	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	20934411	GOA
located in internode region of axon	IDA IDA: Inferred from direct assay	20934411	GOA
located in paranode region of axon	IDA IDA: Inferred from direct assay	20934411	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

ermin

ermin, ERM-like protein

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 84

DEE84	Jamuar Syndrome
Eiee84	Developmental And Epileptic Encephalopathy, 84
Epileptic Encephalopathy, Early Ifantile, 84	Early Infantile Epileptic Encephalopathy 84
Epileptic Encephalopathy, Early Infantile, 84	Encephalopathy, Epileptic, Early Infantile, Type 84

Atrial Septal Defect 5

ASD5	Atrial Heart Septal Defect 5
Septal Defect, Atrial, Type 5

Developmental And Epileptic Encephalopathy 28

DEE28	Epileptic Encephalopathy, Early Infantile, 28
Eiee28	Developmental And Epileptic Encephalopathy, 28
Early Infantile Epileptic Encephalopathy 28	Encephalopathy, Epileptic, Early Infantile, Type 28

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-RS04505	ERMN Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ERMN	MGD	MGI:1925017
Canis familiaris	ERMN	VGNC	VGNC:40462
Felis catus	ERMN	VGNC	VGNC:80202
Rattus norvegicus	ERMN	RGD	RGD:1308367
Macaca mulatta	ERMN	VGNC	VGNC:99360
Bos taurus	ERMN	VGNC	VGNC:28591

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