IRF2BP2 (interferon regulatory factor 2 binding protein 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
359948
Gene name Gene Name - the full gene name approved by the HGNC.
Interferon regulatory factor 2 binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRF2BP2
Synonyms (NCBI Gene) Gene synonyms aliases
CVID14, LRIR2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1553319504 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(814)
miRTarBase ID miRNA Experiments Reference
MIRT020363 hsa-miR-29c-3p Sequencing 20371350
MIRT020914 hsa-miR-155-5p Other 20584899
MIRT027219 hsa-miR-103a-3p Sequencing 20371350
MIRT052282 hsa-let-7b-5p CLASH 23622248
MIRT052282 hsa-let-7b-5p CLASH 23622248
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
CDX1 Unknown 23185413
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
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 IEA
GO:0002327 Process Immature B cell differentiation IDA 27016798
GO:0003714 Function Transcription corepressor activity IBA
GO:0003714 Function Transcription corepressor activity IDA 12799427
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615332 21729 ENSG00000168264
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7Z5L9
Protein name Interferon regulatory factor 2-binding protein 2 (IRF-2-binding protein 2) (IRF-2BP2)
Protein function Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities (PubMed:12799427). Represses the NFAT1-dependent transactivation of NFAT-responsive promoters (PubMed:21576369).
PDB 8YTF , 8YTG , 8YTH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11261 IRF-2BP1_2 12 → 63 Interferon regulatory factor 2-binding protein zinc finger Domain
Sequence 
MAAAVAVAAASRRQSCYLCDLPRMPWAMIWDFTEPVCRGCVNYEGADRVEFVIETARQLK
RAHGCFPEGRSPPGAAASAAAKPPPLSAKDILLQQQQQLGHGGPEAAPRAPQALERYPLA
AAAERPPRLGSDFGSSRPAASLAQPPTPQPPPVNGILVPNGFSKLEEPPELNRQSPNPRR
GHAVPPTLVPLMNGSATPLPTALGLGGRAAASLAAVSGTAAASLGSAQPTDLGAHKRPAS
VSSSAAVEHEQREAAAKEKQPPPPAHRGPADSLSTAAGAAELSAEGAGKSRGSGEQDWVN
RPKTVRDTLLALHQHGHSGPFESKFKKEPALTAGRLLGFEANGANGSKAVARTARKRKPS
PEPEGEVGPPKINGEAQPWLSTSTEGLKIPMTPTSSFVSPPPPTASPHSNRTTPPEAAQN
GQSPMAALILVADNAGGSHASKDANQVHSTTRRNSNSPPSPSSMNQRRLGPREVGGQGAG
NTGGLEPVHPASLPDSSLATSAPLCCTLCHERLEDTHFVQCPSVPSHKFCFPCSRQSIKQ
QGASGEVYCPSGEKCPLVGSNVPWAFMQGEIATILAGDVKVKKERDS
Sequence length 587
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Common variable immunodeficiency immunodeficiency, common variable, 14 rs1553319504 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Show/Hide Text Mining Associations (30)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atherosclerosis Associate 33818294
Autoimmune Diseases Associate 37350971
Breast Neoplasms Associate 32235890
Carcinogenesis Associate 24970810
Chondrosarcoma Mesenchymal Associate 23185413, 24839999
Chromosome Disorders Associate 24839999
Common Variable Immunodeficiency Associate 27016798, 33859323, 37876937
COVID 19 Associate 34824360
Crohn Disease Associate 35538558
Gastrointestinal Diseases Associate 37876937