Gene Gene information from NCBI Gene database.
Entrez ID 5450
Gene name POU class 2 homeobox associating factor 1
Gene symbol POU2AF1
Synonyms (NCBI Gene)
BOB1OBF-1OBF1OCAB
Chromosome 11
Chromosome location 11q23.1
miRNA miRNA information provided by mirtarbase database.
253
miRTarBase ID miRNA Experiments Reference
MIRT439929 ebv-miR-BART4-5p HITS-CLIP 22473208
MIRT439928 hsa-miR-210-3p HITS-CLIP 22473208
MIRT439929 ebv-miR-BART4-5p HITS-CLIP 22473208
MIRT726902 hsa-miR-15a-5p HITS-CLIP 22473208
MIRT726901 hsa-miR-15b-5p HITS-CLIP 22473208
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
POU2F1 Unknown 11847120
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0002314 Process Germinal center B cell differentiation IEA
GO:0002314 Process Germinal center B cell differentiation ISS
GO:0003677 Function DNA binding IEA
GO:0003712 Function Transcription coregulator activity TAS 7859290
GO:0003713 Function Transcription coactivator activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601206 9211 ENSG00000110777
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16633
Protein name POU domain class 2-associating factor 1 (B-cell-specific coactivator OBF-1) (BOB-1) (OCA-B) (OCT-binding factor 1)
Protein function Transcriptional coactivator that specifically associates with either POU2F1/OCT1 or POU2F2/OCT2 (PubMed:7859290). It boosts the POU2F1/OCT1 mediated promoter activity and to a lesser extent, that of POU2F2/OCT2 (PubMed:7779176). It recognizes th
PDB 1CQT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09310 PD-C2-AF1 7 255 POU domain, class 2, associating factor 1 Domain
Tissue specificity TISSUE SPECIFICITY: B-cell specific (PubMed:7779176, PubMed:7859290). Detected in mainly in spleen, but also in thymus, periphral blood leukocyte and small intestine (PubMed:7779176, PubMed:7859290). {ECO:0000269|PubMed:7779176, ECO:0000269|PubMed:7859290
Sequence
Sequence length 256
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
AGAMMAGLOBULINEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE 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
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 21905497
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24960290
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 12670918, 15796964
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia BEFREE 10604987
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 34637689 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30681271
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 33004899 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 27907250, 31103264
★☆☆☆☆
Found in Text Mining only
Biliary cirrhosis Biliary cirrhosis GWASCAT_DG 23000144
★☆☆☆☆
Found in Text Mining only
Biliary cirrhosis Biliary cirrhosis HPO_DG
★☆☆☆☆
Found in Text Mining only