ERMN - ermin Gene

Also Known as JN; KIAA1189

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 57471

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 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence 参考文献 由来
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 参考文献 由来
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

ERMN 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
ERMN Q8TAM6 RTN4IP1 Homo sapiens Q8WWV3
Validated Y2H
32296183
Intra
ERMN Q8TAM6 RTN4IP1 Homo sapiens Q8WWV3
Y2H Prey Pooling
32296183
Intra
ERMN Q8TAM6 RTN4IP1 Homo sapiens Q8WWV3
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS04505 ERMN Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others ERMN NCBI