IRF2BPL (interferon regulatory factor 2 binding protein like)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 64207
Gene name Interferon regulatory factor 2 binding protein like
Gene symbol IRF2BPL
Synonyms (NCBI Gene)
C14orf4EAP1NEDAMSS
Chromosome 14
Chromosome location 14q24.3
Summary 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.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
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.
507
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (507)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17627301
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0005515 Function Protein binding IPI 29374064
GO:0005615 Component Extracellular space HDA 22664934
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611720 14282 ENSG00000119669
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
HGCFQDGRSPGPPPPVGVKTVALSAKEAAAAAAAAAAAAAAAQQQQQQQQQQQQQQQQQQ
QQQQQQQLNHVDGSSKPAVLAAPSGLERYGLSAAAAAAAAAAAAVEQRSRFEYPPPPVSL
GSSSHTARLPNGLGGPNGFPKPTPEEGPPELNRQSPNSSSAAASVASRRGTHGGLVTGLP
NPGGGGGPQLTVPPNLLPQTLLNGPASAAVLPPPPPHALGSRGPPTPAPPGAPGGPACLG
GTPGVSATSSSASSSTSSSVAEVGVGAGGKRPGSVSSTDQERELKEKQRNAEALAELSES
LRNRAEEWASKPKMVRDTLLTLAGCTPYEVRFKKDHSLLGRVFAFDAVSKPGMDYELKLF
IEYPTGSGNVYSSASGVAKQMYQDCMKDFGRGLSSGFKYLEYEKKHGSGDWRLLGDLLPE
AVRFFKEGVPGADMLPQPYLDASCPMLPTALVSLSRAPSAPPGTGALPPAAPSGRGAAAS
LRKRKASPEPPDSAEGALKLGEEQQRQQWMANQSEALKLTMSAGGFAAPGHAAGGPPPPP
PPLGPHSNRTTPPESAPQNGPSPMAALMSVADTLGTAHSPKDGSSVHSTTASARRNSSSP
VSPASVPGQRRLASRNGDLNLQVAPPPPSAHPGMDQVHPQNIPDSPMANSGPLCCTICHE
RLEDTHFVQCPSVPSHKFCFPCSRESIKAQGATGEVYCPSGEKCPLVGSNVPWAFMQGEI
ATILAGDVKVKKERDP
Sequence length 796
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
173
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Pathogenic rs2503074890 RCV003127448
Global developmental delay Likely pathogenic rs759071794 RCV001526659
IRF2BPL-related disorder Likely pathogenic; Pathogenic rs2140377628, rs2503076331, rs1448259271, rs1345176461, rs1566785444, rs1566785990, rs1566786613 RCV004734278
RCV003400054
RCV000625992
RCV000708589
RCV000708590
RCV000708571
RCV003396326
Neurodevelopmental disorder Likely pathogenic rs1594798157 RCV000853372
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Conflicting classifications of pathogenicity rs371633333 RCV003761435
Intellectual disability Conflicting classifications of pathogenicity rs765748046, rs142468978 RCV005626770
RCV005626874
Neurodevelopmental abnormality Uncertain significance rs1356336393 RCV001264694
Rare genetic intellectual disability Uncertain significance rs537373114 RCV001257025
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
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