IRF2BP2 (interferon regulatory factor 2 binding protein 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 359948
Gene name Interferon regulatory factor 2 binding protein 2
Gene symbol IRF2BP2
Synonyms (NCBI Gene)
CVID14LRIR2
Chromosome 1
Chromosome location 1q42.3
Summary 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.
1
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.
814
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 Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
CDX1 Unknown 23185413
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615332 21729 ENSG00000168264
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
65
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency, common variable, 14 Likely pathogenic; Pathogenic rs1399395271, rs2528523329 RCV003324098
RCV003324113
RCV003324708
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs11502 RCV005909495
Cervical cancer Benign rs11502 RCV005909496
Clear cell carcinoma of kidney Benign rs11502 RCV005909498
Familial cancer of breast Benign rs142257661 RCV005921338
Show/Hide Text Mining Associations (30)
Associations from Text MiningDisease 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