IRF2BPL
Sign in to saveAlso known as C14orf4, EAP1, interferon regulatory factor 2 binding protein like, enhanced at puberty protein 1, NEDAMSS
Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene. Mutations are associated with neurological problems. More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.
Gene data
IRF2BPL- Name
- interferon regulatory factor 2 binding protein like
- Type
- protein-coding
- Position
- 77,024,543–77,028,708 (−)
- Aliases
- C14orf4, EAP1, NEDAMSS
- Ensembl
- ENSG00000119669
- RefSeq RNA
- NM_024496.4
- RefSeq protein
- NP_078772.1
This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012].
Gene Ontology
Biological process
Cellular component
via MyGene.info
Gene · Ensembl
interferon regulatory factor 2 binding protein like
- Symbol
- IRF2BPL
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 14:77,024,543-77,028,708
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein C14orf4 PDB 2cs3.png
Show 5 more facts
- HomoloGene ID
- 11555
- exact match
- identifiers.org/ncbigene/64207
- genomic end
- 77028708
- genomic start
- 77490888
- cytogenetic location
- 14q24.3
Sources (4)
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- References
- External links
- Further reading
Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene. Mutations are associated with neurological problems. More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.
Research into IRF2BPL-Related Disorder (NEDAMSS) is ongoing, with multiple academic and clinical groups investigating the gene’s role in neurodevelopment and potential therapeutic approaches. Nonprofit organizations, such as Tough Genes, are working to support these efforts to translate research into a cure.