Gene: IRF2BPL
Alternate names for this Gene: C14orf4|EAP1|NEDAMSS
Gene Summary: This gene encodes a transcription factor that may play a role in regulating female reproductive function.
Gene is located in Chromosome: 14
Location in Chromosome : 14q24.3
Description of this Gene: interferon regulatory factor 2 binding protein like
Type of Gene: protein-coding
rs1555377234 in
IRF2BPL gene and
Dysmorphic features
PMID 17627301 2007 Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.
PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.
PMID 21444724 2011 A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.
PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.
PMID 11095982 2000 Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.
rs1555377234 in
IRF2BPL gene and
Multiple congenital anomalies
PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.
PMID 11095982 2000 Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.
PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.
PMID 17627301 2007 Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.
PMID 21444724 2011 A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.
rs1555377234 in
IRF2BPL gene and
Muscle hypotonia
PMID 17627301 2007 Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.
PMID 11095982 2000 Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.
PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.
PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.
PMID 21444724 2011 A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.