POU2AF1 (POU domain, class 2, associating factor 1)

1998-03-01 Sylvie Galiègue-Zouitina Affiliation

U.124 INSERM, I.R.C.L., Place de Verdun, 59045 LILLE Cedex, France

Identity

HGNC

POU2AF1

LOCATION

11q23.1

IMAGE

LEGEND

POU2AF1 (11q23) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

LOCUSID

5450

ALIAS

BOB1,OBF-1,OBF1,OCAB

FUSION GENES

Show Gene Fusions

DNA/RNA

DNA Diagram

Description

spans on a 30 kb genomic fragment; five exons; large fifth exon, with many 3 -UTR repetitive elements, two pyrimidine rich regions (a duplicated CT- rich region and a [CCTT]n tetranucleotide tandem repeat) and a 282 nucleotides long Alu element

Transcription

3.4 kb mRNA; coding sequence: 770 bp, spanning from the end of exon 1 to the beginning of exon 5

Proteins

Description

256 amino acids; 27.4 kDa; proline rich protein with no recognizable domain or motifs

Expression

constitutively expressed in B-cells and inducible in T-cells

Localisation

nuclear

Function

B-cell specific transcriptional coactivator: involved in the transcription of immunoglobulin genes through recruitment to the highly conserved octamer site of immunoglobulin promoters, mediated by either Oct-1 or Oct-2 transcription factor; forms a ternary complex on DNA together with either Oct-1 or Oct-2 transcription factor; is essential for the response of B-cells to antigens and is required for the formation of germinal centres no homology to known proteins.

Implicated in

Entity name

t(3;11)(q27;q23.1)/ NHL --> BCL6 - POU2AF1

Disease

NHL

Cytogenetics

found in complex caryotypes

Hybrid gene

5 BOB1- 3 BCL6 and 5 BCL6 - 3BOB1, leading to two fusion transcripts

Fusion protein

no fusion protein, but promoter exchange between both partner genes

Bibliography

Pubmed ID	Last Year	Title	Authors
7779176	1995	A B-cell coactivator of octamer-binding transcription factors.	Gstaiger M et al
7623806	1995	Cloning, functional characterization, and mechanism of action of the B-cell-specific transcriptional coactivator OCA-B.	Luo Y et al
8849727	1996	B-cell-specific coactivator OBF-1/OCA-B/Bob1 required for immune response and germinal centre formation.	Schubart DB et al
7859290	1995	OBF-1, a novel B cell-specific coactivator that stimulates immunoglobulin promoter activity through association with octamer-binding proteins.	Strubin M et al
8751468	1996	Heterogeneity of breakpoints at the transcriptional co-activator gene, BOB-1, in lymphoproliferative disease.	Yuille MA et al
9211847	1997	Inducible expression and phosphorylation of coactivator BOB.1/OBF.1 in T cells.	Zwilling S et al

Other Information

Locus ID:

NCBI: 5450
MIM: 601206
HGNC: 9211
Ensembl: ENSG00000110777

Variants:

dbSNP: 5450
ClinVar: 5450
TCGA: ENSG00000110777
COSMIC: POU2AF1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000110777	ENST00000393067	Q16633
ENSG00000110777	ENST00000531398	E9PKH4

Expression (GTEx)

100

150

200

250

300

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
23000144	2012	Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.	74
20659471	2010	Genetic heterogeneity in colorectal cancer associations between African and European americans.	40
18753146	2008	Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.	32
21549311	2011	Direct interactions of OCA-B and TFII-I regulate immunoglobulin heavy-chain gene transcription by facilitating enhancer-promoter communication.	26
18695675	2008	Functional long-range interactions of the IgH 3' enhancers with the bcl-2 promoter region in t(14;18) lymphoma cells.	19
17785371	2007	Novel germ cell markers characterize testicular seminoma and fetal testis.	15
15672409	2005	Identification of a potential role for POU2AF1 and BTG4 in the deletion of 11q23 in chronic lymphocytic leukemia.	12
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
12727885	2003	OBF1 enhances transcriptional potential of Oct1.	8

Citation

Sylvie Galiègue-Zouitina

POU2AF1 (POU domain, class 2, associating factor 1)

Atlas Genet Cytogenet Oncol Haematol. 1998-03-01

Online version: http://atlasgeneticsoncology.org/gene/94/pou2af1