POU2AF1 POU class 2 associating factor 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: POU2AF1provided by HGNC
Official Full Name: POU class 2 associating factor 1provided by HGNC
Primary source: HGNC:9211
See related: Ensembl:ENSG00000110777; HPRD:03126; MIM:601206; Vega:OTTHUMG00000166659
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BOB1; OBF1; OCAB; OBF-1

Genomic context

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Location :: 11q23.1

Sequence :: Chromosome: 11; NC_000011.9 (111222980..111250157, complement)

See POU2AF1 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Two significant susceptibility loci, TNFSF15 (rs4979462) and POU2AF1 (rs4938534) (combined odds ratio [OR] = 1.56, p = 2.84 x 10(-14) for rs4979462.
Title: Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
genetic polymorphism is associated with common variable immunodeficiency
Title: Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency.
Data show that Igh 3' enhancer-bound OCA-B and promoter-bound TFII-I mediate promoter-enhancer interactions, in both cis and trans, that are important for Igh transcription.
Title: Direct interactions of OCA-B and TFII-I regulate immunoglobulin heavy-chain gene transcription by facilitating enhancer-promoter communication.
Twenty-two cases of nodular lymphocyte predominant Hodgkin lymphoma were studied for the immunohistochemical expression of Pax-5, Oct-2, BOB.1, Bcl-6 protein and MUM1/IRF-4.
Title: B-cell transcription factors Pax-5, Oct-2, BOB.1, Bcl-6, and MUM1 are useful markers for the diagnosis of nodular lymphocyte predominant Hodgkin lymphoma.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
On multivariate analysis, co-expression of OCT-2/BOB.1 remained predictive for achievement of complete remission and increased risk of relapse.
Title: OCT-2 expression and OCT-2/BOB.1 co-expression predict prognosis in patients with newly diagnosed acute myeloid leukemia.
BOB.1 may be helpful marker in the differential diagnosis of classical Hodgkin's lymphoma and primary mediastinal B-cell lymphoma
Title: BOB.1, CD79a and cyclin E are the most appropriate markers to discriminate classical Hodgkin's lymphoma from primary mediastinal large B-cell lymphoma.
Oct-2 and its cofactor Bob-1 have an important function in mediating the IgH enhancer-bcl-2 promoter region interactions
Title: Functional long-range interactions of the IgH 3' enhancers with the bcl-2 promoter region in t(14;18) lymphoma cells.
Novel germ cell markers BOB1 were significantly upregulated in seminoma specimens, compared to normal testes.
Title: Novel germ cell markers characterize testicular seminoma and fetal testis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic heterogeneity in colorectal cancer associations between African and European americans.

Submit: New GeneRIF Correction See all (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q16633	P14859	POU2F1	HPRD	PubMed
Q16633	P09086	POU2F2	HPRD	PubMed
Q16633	Q8IUQ4	SIAH1	HPRD	PubMed
Q16633	O43255	SIAH2	HPRD	PubMed
Q16633	Solute carrier family 22 (organic cation transporter), member 1	SLC22A1	HPRD	PubMed
Q16633	Solute carrier family 22 (organic cation transporter), member 2	SLC22A2	HPRD	PubMed
Q16633	P53999	SUB1	HPRD	PubMed
Q16633	P43405	SYK	HPRD	PubMed
BioGRID:111446	BioGRID:108894	GATA2	BioGRID	PubMed	Two-hybrid
BioGRID:111446	BioGRID:109220	GTF2H1	BioGRID	PubMed	Two-hybrid
BioGRID:111446	BioGRID:109224	GTF2I	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:111446	BioGRID:110594	MSX2	BioGRID	PubMed	Two-hybrid
BioGRID:111446	BioGRID:110746	NAB1	BioGRID	PubMed	Two-hybrid
BioGRID:111446	BioGRID:113604	PAX8	BioGRID	PubMed	Two-hybrid
BioGRID:111446	BioGRID:111447	POU2F1	BioGRID	PubMed	Co-crystal Structure; Reconstituted Complex; Two-hybrid
BioGRID:111446	BioGRID:124119	RHOXF2	BioGRID	PubMed	Two-hybrid
BioGRID:111446	BioGRID:112372	SIAH1	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex; Two-hybrid
BioGRID:111446	BioGRID:110262	SMAD2	BioGRID	PubMed	Two-hybrid
BioGRID:111446	BioGRID:116127	SUB1	BioGRID	PubMed	Reconstituted Complex

General gene information

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Markers

RH47038 (e-PCR)
- UniSTS:53273

STS-Z49194 (e-PCR)
- UniSTS:19267

SHGC-146807 (e-PCR)
- UniSTS:172690

D11S1986 (e-PCR)
- UniSTS:29393

Homology

Homologs of the POU2AF1 gene: The POU2AF1 gene is conserved in chimpanzee, dog, cow, mouse, rat, and chicken.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
transcription coactivator activity	TAS Traceable Author Statement more info	PubMed
transcription cofactor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
humoral immune response	TAS Traceable Author Statement more info	PubMed
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
transcription from RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: POU domain class 2-associating factor 1

Names: POU domain class 2-associating factor 1; BOB-1; OCA-B; OCT-binding factor 1; B-cell-specific coactivator OBF-1; POU domain, class 2, associating factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006235.2 → NP_006226.2 POU domain class 2-associating factor 1

Status: VALIDATED

Source sequence(s)

AP002451, X83504, Z49194

Consensus CDS

CCDS31675.1

UniProtKB/Swiss-Prot

Q16633

Related

ENSP00000376786, OTTHUMP00000233941, ENST00000393067, OTTHUMT00000391002

Conserved Domains (1) summary

pfam09310
Location:1 – 255
Blast Score: 575

PD-C2-AF1; POU domain, class 2, associating factor 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p10 Primary Assembly

Range

111222980..111250157, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

107147948..107174870, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018922.1 Alternate CHM1_1.0

Range

111086202..111113376, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01039821.1 (76016..97000)	None
genomic	ABBA01039822.1	None
genomic	ABBA01039823.1	None
genomic	AMYH01004029.1 (377696..404870)	None
genomic	AP002451.5 (8879..36315)	None
genomic	CH471065.1	EAW67137.1
genomic	HI574300.1	CBX47639.1
mRNA	AK313573.1	BAG36346.1
mRNA	BC032549.1	AAH32549.1
mRNA	X83504.1	CAA58494.1
mRNA	Z47550.1	CAA87630.1
mRNA	Z49194.1	CAA89053.1
other-genetic	DQ890869.2	ABM81795.1
other-genetic	EU176491.1	ABW03292.1