Aliases for POU2AF1 Gene

Aliases for POU2AF1 Gene

  • POU Class 2 Homeobox Associating Factor 1 2 3 5
  • BOB1 2 3 4
  • OBF1 2 3 4
  • POU Domain Class 2-Associating Factor 1 3 4
  • B-Cell-Specific Coactivator OBF-1 3 4
  • POU Class 2 Associating Factor 1 2 3
  • OCT-Binding Factor 1 3 4
  • BOB-1 3 4
  • OCA-B 3 4
  • POU Domain Class 2, Associating Factor 1 2
  • POU2AF1 5
  • OBF-1 3
  • OCAB 3

External Ids for POU2AF1 Gene

Previous GeneCards Identifiers for POU2AF1 Gene

  • GC11M113575
  • GC11M112735
  • GC11M111256
  • GC11M110760
  • GC11M110728
  • GC11M111222
  • GC11M107147

Summaries for POU2AF1 Gene

GeneCards Summary for POU2AF1 Gene

POU2AF1 (POU Class 2 Homeobox Associating Factor 1) is a Protein Coding gene. Diseases associated with POU2AF1 include Hodgkin's Lymphoma, Lymphocytic Depletion and Primary Biliary Cholangitis. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and transcription coregulator activity.

UniProtKB/Swiss-Prot Summary for POU2AF1 Gene

  • 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 has no intrinsic DNA-binding activity. It recognizes the POU domains of POU2F1/OCT1 and POU2F2/OCT2 (PubMed:7779176). It is essential for the response of B-cells to antigens and required for the formation of germinal centers (PubMed:7623806, PubMed:7859290). Regulates IL6 expression in B cells as POU2F2/OCT2 coactivator (By similarity).

Gene Wiki entry for POU2AF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POU2AF1 Gene

Genomics for POU2AF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POU2AF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POU2AF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POU2AF1

Top Transcription factor binding sites by QIAGEN in the POU2AF1 gene promoter:
  • AML1a
  • c-Ets-1
  • C/EBPalpha
  • CHOP-10
  • FOXL1
  • HNF-3beta
  • MEF-2A
  • MyoD
  • POU3F2
  • TBP

Genomic Locations for POU2AF1 Gene

Latest Assembly
chr11:111,352,251-111,455,630
(GRCh38/hg38)
Size:
103,380 bases
Orientation:
Minus strand

Previous Assembly
chr11:111,222,980-111,250,000
(GRCh37/hg19 by Entrez Gene)
Size:
27,021 bases
Orientation:
Minus strand

chr11:111,222,977-111,326,355
(GRCh37/hg19 by Ensembl)
Size:
103,379 bases
Orientation:
Minus strand

Genomic View for POU2AF1 Gene

Genes around POU2AF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU2AF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU2AF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU2AF1 Gene

Proteins for POU2AF1 Gene

  • Protein details for POU2AF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16633-OBF1_HUMAN
    Recommended name:
    POU domain class 2-associating factor 1
    Protein Accession:
    Q16633
    Secondary Accessions:
    • B2R8Z9
    • Q14983

    Protein attributes for POU2AF1 Gene

    Size:
    256 amino acids
    Molecular mass:
    27436 Da
    Quaternary structure:
    • Interacts with POU2F1/OCT1 and POU2F2/OCT2; the interaction increases POU2F1 and POU2F2 transactivation activity.

    Three dimensional structures from OCA and Proteopedia for POU2AF1 Gene

neXtProt entry for POU2AF1 Gene

Post-translational modifications for POU2AF1 Gene

  • Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU2AF1 Gene

Antibodies for research

  • Abcam antibodies for POU2AF1

No data available for DME Specific Peptides for POU2AF1 Gene

Domains & Families for POU2AF1 Gene

Gene Families for POU2AF1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for POU2AF1 Gene

InterPro:

Suggested Antigen Peptide Sequences for POU2AF1 Gene

GenScript: Design optimal peptide antigens:
  • OCT-binding factor 1 (OBF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16633

UniProtKB/Swiss-Prot:

OBF1_HUMAN :
  • Belongs to the POU2AF1 family.
Family:
  • Belongs to the POU2AF1 family.
genes like me logo Genes that share domains with POU2AF1: view

Function for POU2AF1 Gene

Molecular function for POU2AF1 Gene

UniProtKB/Swiss-Prot 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 has no intrinsic DNA-binding activity. It recognizes the POU domains of POU2F1/OCT1 and POU2F2/OCT2 (PubMed:7779176). It is essential for the response of B-cells to antigens and required for the formation of germinal centers (PubMed:7623806, PubMed:7859290). Regulates IL6 expression in B cells as POU2F2/OCT2 coactivator (By similarity).
GENATLAS Biochemistry:
POU domain class 2,associating factor 1,B-cell specific coactivator,specifically associating with OCT1 (OTF1) and OCT2,fused with LAZ3/BCL6 in a B-cell leukemia cell line (Karpas 231)

Phenotypes From GWAS Catalog for POU2AF1 Gene

Gene Ontology (GO) - Molecular Function for POU2AF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003712 transcription coregulator activity TAS 7859290
GO:0003713 transcription coactivator activity IEA,ISS --
GO:0005515 protein binding IPI 11483518
genes like me logo Genes that share ontologies with POU2AF1: view
genes like me logo Genes that share phenotypes with POU2AF1: view

Human Phenotype Ontology for POU2AF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POU2AF1 Gene

MGI Knock Outs for POU2AF1:

miRNA for POU2AF1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU2AF1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for POU2AF1 Gene

Localization for POU2AF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU2AF1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POU2AF1 gene
Compartment Confidence
nucleus 4
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for POU2AF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0090575 RNA polymerase II transcription factor complex IMP 10329190
genes like me logo Genes that share ontologies with POU2AF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POU2AF1 Gene

Pathways & Interactions for POU2AF1 Gene

PathCards logo

SuperPathways for POU2AF1 Gene

No Data Available

SIGNOR curated interactions for POU2AF1 Gene

Activates:

Gene Ontology (GO) - Biological Process for POU2AF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002314 germinal center B cell differentiation IEA,ISS --
GO:0006959 humoral immune response TAS 7859290
GO:0032755 positive regulation of interleukin-6 production IEA,ISS --
GO:0045944 positive regulation of transcription by RNA polymerase II IGI 11380252
GO:0098586 cellular response to virus IEA,ISS --
genes like me logo Genes that share ontologies with POU2AF1: view

No data available for Pathways by source for POU2AF1 Gene

Drugs & Compounds for POU2AF1 Gene

(1) Drugs for POU2AF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with POU2AF1: view

Transcripts for POU2AF1 Gene

mRNA/cDNA for POU2AF1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU2AF1

Alternative Splicing Database (ASD) splice patterns (SP) for POU2AF1 Gene

No ASD Table

Relevant External Links for POU2AF1 Gene

GeneLoc Exon Structure for
POU2AF1

Expression for POU2AF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POU2AF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POU2AF1 Gene

This gene is overexpressed in Spleen (x8.0) and Small Intestine - Terminal Ileum (x4.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POU2AF1

SOURCE GeneReport for Unigene cluster for POU2AF1 Gene:

Hs.654525

mRNA Expression by UniProt/SwissProt for POU2AF1 Gene:

Q16633-OBF1_HUMAN
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).

Evidence on tissue expression from TISSUES for POU2AF1 Gene

  • Spleen(4.5)
  • Intestine(4.5)
  • Blood(4.4)
  • Lymph node(3)
  • Bone marrow(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POU2AF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • lymphatic
Regions:
Abdomen:
  • biliary tract
  • liver
  • spleen
General:
  • blood
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with POU2AF1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for POU2AF1 Gene

Orthologs for POU2AF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for POU2AF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POU2AF1 29 30
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POU2AF1 29 30
  • 89.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POU2AF1 29 30
  • 87.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pou2af1 29 16 30
  • 86.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pou2af1 29
  • 85.55 (n)
Oppossum
(Monodelphis domestica)
Mammalia POU2AF1 30
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POU2AF1 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves POU2AF1 29
  • 71.52 (n)
CHOBF-1 30
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia POU2AF1 30
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pou2af1 29
  • 60.37 (n)
Species where no ortholog for POU2AF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for POU2AF1 Gene

ENSEMBL:
Gene Tree for POU2AF1 (if available)
TreeFam:
Gene Tree for POU2AF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POU2AF1: view image
Alliance of Genome Resources:
Additional Orthologs for POU2AF1

Paralogs for POU2AF1 Gene

No data available for Paralogs for POU2AF1 Gene

Variants for POU2AF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POU2AF1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
870852 Uncertain Significance: not provided 111,357,667(-) TG/T
NM_006235.3(POU2AF1):c.233del (p.Thr78fs)
FRAMESHIFT
rs116229465 Benign: not provided 111,358,806(-) T/C
NM_006235.3(POU2AF1):c.129A>G (p.Ala43=)
SYNONYMOUS
rs139875225 Likely Benign: not provided 111,357,676(-) A/G
NM_006235.3(POU2AF1):c.225T>C (p.Ser75=)
SYNONYMOUS
rs143769469 Benign: not provided 111,357,713(-) G/A
NM_006235.3(POU2AF1):c.191-3C>T
INTRON
rs35454698 Benign: not provided 111,358,821(-) G/A
NM_006235.3(POU2AF1):c.114C>T (p.His38=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POU2AF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POU2AF1 Gene

Variant ID Type Subtype PubMed ID
esv3548346 CNV deletion 23714750
esv3579907 CNV loss 25503493
nsv1113434 CNV deletion 24896259
nsv1125533 CNV tandem duplication 24896259
nsv39618 CNV deletion 16902084
nsv478441 CNV novel sequence insertion 20440878
nsv478590 CNV novel sequence insertion 20440878
nsv490 CNV deletion 18451855
nsv832268 CNV loss 17160897

Variation tolerance for POU2AF1 Gene

Residual Variation Intolerance Score: 34.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POU2AF1 Gene

Human Gene Mutation Database (HGMD)
POU2AF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU2AF1
Leiden Open Variation Database (LOVD)
POU2AF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU2AF1 Gene

Disorders for POU2AF1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for POU2AF1 Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
hodgkin's lymphoma, lymphocytic depletion
  • hodgkin lymphoma, lymphocyte depletion
primary biliary cholangitis
  • biliary liver cirrhosis
mediastinal malignant lymphoma
  • lymphoma of mediastinum
methotrexate-associated lymphoproliferation
gray zone lymphoma
  • b-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical hodgkin lymphoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

OBF1_HUMAN
  • Note=A chromosomal aberration involving POU2AF1/OBF1 may be a cause of a form of B-cell leukemia. Translocation t(3;11)(q27;q23) with BCL6. {ECO:0000269 PubMed:8574789}.

Additional Disease Information for POU2AF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with POU2AF1: view

No data available for Genatlas for POU2AF1 Gene

Publications for POU2AF1 Gene

  1. Assignment of the human gene for Oct-binding factor-1 (OBF1), a B-cell-specific coactivator of octamer-binding transcription factors 1 and 2, to 11q23.1 by somatic cell hybridization and in situ hybridization. (PMID: 8617501) Junker S … Tommerup N (Genomics 1996) 2 3 22
  2. Cloning, functional characterization, and mechanism of action of the B-cell-specific transcriptional coactivator OCA-B. (PMID: 7623806) Luo Y … Roeder RG (Molecular and cellular biology 1995) 3 4 22
  3. Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. (PMID: 23000144) Nakamura M … Ishibashi H (American journal of human genetics 2012) 3 72
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. Genetic heterogeneity in colorectal cancer associations between African and European americans. (PMID: 20659471) Kupfer SS … Ellis NA (Gastroenterology 2010) 3 40

Products for POU2AF1 Gene

Sources for POU2AF1 Gene