Gene Gene information from NCBI Gene database.
Entrez ID 26145
Gene name Interferon regulatory factor 2 binding protein 1
Gene symbol IRF2BP1
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.32
miRNA miRNA information provided by mirtarbase database.
87
miRTarBase ID miRNA Experiments Reference
MIRT021548 hsa-miR-142-3p Microarray 17612493
MIRT037736 hsa-miR-744-5p CLASH 23622248
MIRT1070958 hsa-miR-1293 CLIP-seq
MIRT1070959 hsa-miR-15a CLIP-seq
MIRT1070960 hsa-miR-15b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12799427
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 18671972
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000209 Process Protein polyubiquitination IDA 18671972
GO:0003714 Function Transcription corepressor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615331 21728 ENSG00000170604
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IU81
Protein name Interferon regulatory factor 2-binding protein 1 (IRF-2-binding protein 1) (IRF-2BP1) (Probable E3 ubiquitin-protein ligase IRF2BP1) (EC 2.3.2.27) (Probable RING-type E3 ubiquitin transferase IRF2BP1)
Protein function Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities. May act as an E3 ligase towards JDP2, enhancing its polyubiquitination. Represses ATF2-dependent transcriptional
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11261 IRF-2BP1_2 8 59 Interferon regulatory factor 2-binding protein zinc finger Domain
PF00097 zf-C3HC4 503 549 Zinc finger, C3HC4 type (RING finger) Domain
Sequence
MASVQASRRQWCYLCDLPKMPWAMVWDFSEAVCRGCVNFEGADRIELLIDAARQLKRSHV
LPEGRSPGPPALKHPATKDLAAAAAQGPQLPPPQAQPQPSGTGGGVSGQDRYDRATSSGR
LPLPSPALEYTLGSRLANGLGREEAVAEGARRALLGSMPGLMPPGLLAAAVSGLGSRGLT
LAPGLSPARPLFGSDFEKEKQQRNADCLAELNEAMRGRAEEWHGRPKAVREQLLALSACA
PFNVRFKKDHGLVGRVFAFDATARPPGYEFELKLFTEYPCGSGNVYAGVLAVARQMFHDA
LREPGKALASSGFKYLEYERRHGSGEWRQLGELLTDGVRSFREPAPAEALPQQYPEPAPA
ALCGPPPRAPSRNLAPTPRRRKASPEPEGEAAGKMTTEEQQQRHWVAPGGPYSAETPGVP
SPIAALKNVAEALGHSPKDPGGGGGPVRAGGASPAASSTAQPPTQHRLVARNGEAEVSPT
AGAEAVSGGGSGTGATPGAPLCCTLCRERLEDTHFVQCPSVPGHKFCFPCSREFIKAQGP
AGEVYCPSG
DKCPLVGSSVPWAFMQGEIATILAGDIKVKKERDP
Sequence length 584
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GALLSTONES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Developmental Disabilities Developmental disability Pubtator 37501076, 38091987 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Promyelocytic Acute Promyelocytic leukemia Pubtator 38410879 Associate
★☆☆☆☆
Found in Text Mining only
Microcephaly Microcephaly Pubtator 37501076 Associate
★☆☆☆☆
Found in Text Mining only
Pancreatitis Pancreatitis Pubtator 37867141 Associate
★☆☆☆☆
Found in Text Mining only