Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64207
Gene name Gene Name - the full gene name approved by the HGNC.
Interferon regulatory factor 2 binding protein like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRF2BPL
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf4, EAP1, NEDAMSS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDAMSS
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1555377234 A>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1566785444 C>- Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005439 hsa-miR-1-3p pSILAC 18668040
MIRT005439 hsa-miR-1-3p Proteomics 18668040
MIRT049752 hsa-miR-92a-3p CLASH 23622248
MIRT040275 hsa-miR-615-3p CLASH 23622248
MIRT614604 hsa-miR-1910-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17627301
GO:0003714 Function Transcription corepressor activity IBA 21873635
GO:0005515 Function Protein binding IPI 29374064
GO:0005615 Component Extracellular space HDA 22664934
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611720 14282 ENSG00000119669
Protein
UniProt ID Q9H1B7
Protein name Probable E3 ubiquitin-protein ligase IRF2BPL (EC 2.3.2.27) (Enhanced at puberty protein 1) (Interferon regulatory factor 2-binding protein-like)
Protein function Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins (PubMed:29374064). Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signal
PDB 2CS3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11261 IRF-2BP1_2 10 61 Interferon regulatory factor 2-binding protein zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the heart, moderately in skeletal muscle and pancreas, and weakly in brain, kidney, liver, testis, thyroid gland and lymphocytes. {ECO:0000269|PubMed:11095982}.
Sequence
MSAAQVSSSRRQSCYLCDLPRMPWAMIWDFSEPVCRGCVNYEGADRIEFVIETARQLKRA
H
GCFQDGRSPGPPPPVGVKTVALSAKEAAAAAAAAAAAAAAAQQQQQQQQQQQQQQQQQQ
QQQQQQQLNHVDGSSKPAVLAAPSGLERYGLSAAAAAAAAAAAAVEQRSRFEYPPPPVSL
GSSSHTARLPNGLGGPNGFPKPTPEEGPPELNRQSPNSSSAAASVASRRGTHGGLVTGLP
NPGGGGGPQLTVPPNLLPQTLLNGPASAAVLPPPPPHALGSRGPPTPAPPGAPGGPACLG
GTPGVSATSSSASSSTSSSVAEVGVGAGGKRPGSVSSTDQERELKEKQRNAEALAELSES
LRNRAEEWASKPKMVRDTLLTLAGCTPYEVRFKKDHSLLGRVFAFDAVSKPGMDYELKLF
IEYPTGSGNVYSSASGVAKQMYQDCMKDFGRGLSSGFKYLEYEKKHGSGDWRLLGDLLPE
AVRFFKEGVPGADMLPQPYLDASCPMLPTALVSLSRAPSAPPGTGALPPAAPSGRGAAAS
LRKRKASPEPPDSAEGALKLGEEQQRQQWMANQSEALKLTMSAGGFAAPGHAAGGPPPPP
PPLGPHSNRTTPPESAPQNGPSPMAALMSVADTLGTAHSPKDGSSVHSTTASARRNSSSP
VSPASVPGQRRLASRNGDLNLQVAPPPPSAHPGMDQVHPQNIPDSPMANSGPLCCTICHE
RLEDTHFVQCPSVPSHKFCFPCSRESIKAQGATGEVYCPSGEKCPLVGSNVPWAFMQGEI
ATILAGDVKVKKERDP
Sequence length 796
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
30061737
Cerebellar ataxia Progressive cerebellar ataxia rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Cerebral palsy Cerebral Palsy rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Developmental delay Global developmental delay, Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation 30061737 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Anorchia Associate 36670390
Ataxia Associate 36670390
Cerebellar Ataxia Associate 33278788
COVID 19 Associate 34824360
Developmental Disabilities Associate 33278788
Dysarthria Associate 36670390
Dystonia Associate 36670390
Epilepsy Associate 36670390
Heredodegenerative Disorders Nervous System Associate 37878632
Language Development Disorders Associate 36670390