IRF2BPL - interferon regulatory factor 2 binding protein like Gene

Also Known as EAP1; C14orf4; NEDAMSS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64207

About IRF2BPL

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:77,024,543-77,028,708 (from NCBI)

This gene has 1 transcript (splice variant), 136 orthologues, 5 paralogues and is associated with 3 phenotypes.

Summary

This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]

IRF2BPL Products (1)

mRNA Protein Name
NM_024496.4 NP_078772.1 probable E3 ubiquitin-protein ligase IRF2BPL

IRF2BPL Protein Structure

IRF-2BP1_2

IRF-2BP1_2: Interferon regulatory factor 2-binding protein zinc finger (9 - 62)

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  • 796 a.a.
Protein Preferred Names Protein Names

probable E3 ubiquitin-protein ligase IRF2BPL

  • E3 ubiquitin-protein ligase IRF2BPL

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
  • NEDAMSS

Irf2bpl-Related Regressive Neurodevelopmental Disorder-Dystonia-Seizures Syndrome
Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus IRF2BPL RGD RGD:1310994
Bos taurus IRF2BPL VGNC VGNC:30273
Canis familiaris IRF2BPL VGNC VGNC:53498
Felis catus IRF2BPL VGNC VGNC:104476
Mus musculus IRF2BPL MGD MGI:2442463
Others IRF2BPL NCBI