• Gene id: 5452

Gene Summary

• Gene Symbol: POU2F2   Gene   UCSC   Ensembl
• Aliases: OCT2, OTF2, Oct-2
• Gene name: POU class 2 homeobox 2
• Alternate names: POU domain, class 2, transcription factor 2, OTF-2, homeobox protein, lymphoid-restricted immunoglobulin octamer-binding protein NF-A2, octamer-binding protein 2, octamer-binding transcription factor 2,
• Gene location: 19q13.2 (42197930: 42086112)     Exons: 21     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in immunoglobulin gene promoters. Several tr
• OMIM: 164176

SNPs

rs1042838

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101062681C>A
NC_000011.10   g.101062681C>G
NC_000011.9   g.100933412C>A
NC_000011.9   g.100933412C>G
NG_016475.1   g.72133G>T
NG_016475.1   g.72133G>C
NM_000926.4   c.1978G>T
NM_000926.4   c.1978G>C
NM_001202474.3   c.1486G>T
NM_001202474.3   c.1486G>C
  

Protein Summary

• Protein general information: P09086  
  • Name: POU domain, class 2, transcription factor 2 (Lymphoid restricted immunoglobulin octamer binding protein NF A2) (Octamer binding protein 2) (Oct 2) (Octamer binding transcription factor 2) (OTF 2)
  • Length: 479  
  • Mass: 51209
  • Tissue specificity: Isoform 3 is B-cell specific. Isoform 5 is expressed in B-cells and the immunoglobulin-expressing T-cell line MOLT-4, but not in the T-cell line BW5147. {ECO
• Sequence:

  MVHSSMGAPEIRMSKPLEAEKQGLDSPSEHTDTERNGPDTNHQNPQNKTSPFSVSPTGPSTKIKAEDPSGDSAPA
  APLPPQPAQPHLPQAQLMLTGSQLAGDIQQLLQLQQLVLVPGHHLQPPAQFLLPQAQQSQPGLLPTPNLFQLPQQ
  TQGALLTSQPRAGLPTQAVTRPTLPDPHLSHPQPPKCLEPPSHPEEPSDLEELEQFARTFKQRRIKLGFTQGDVG
  LAMGKLYGNDFSQTTISRFEALNLSFKNMCKLKPLLEKWLNDAETMSVDSSLPSPNQLSSPSLGFDGLPGRRRKK
  RTSIETNVRFALEKSFLANQKPTSEEILLIAEQLHMEKEVIRVWFCNRRQKEKRINPCSAAPMLPSPGKPASYSP
  HMVTPQGGAGTLPLSQASSSLSTTVTTLSSAVGTLHPSRTAGGGGGGGGAAPPLNSIPSVTPPPPATTNSTNPSP
  QGSHSAIGLSGLNPSTGPGLWWNPAPYQP

• Structural information:
  • Protein Domains: (195..26-)
    (/note="POU-specific-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00530"-)
  • Interpro: IPR009057  IPR017970  IPR001356  IPR010982  IPR013847   IPR000327  IPR000972  
  • Prosite: PS00027 PS50071 PS00035 PS00465 PS51179
  • CDD: cd00086
  • PDB: 1HDP
  • PDBsum: 1HDP
  • DIP: 51
  • STRING: ENSP00000431603
• Other Databases: GeneCards:  POU2F2  Malacards:  POU2F2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0032755	positive regulation of interleukin-6 production	ISS	biological process
GO:0098586	cellular response to virus	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006959	humoral immune response	TAS	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042795	snRNA transcription by RNA polymerase II	TAS	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0002335	mature B cell differentiation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0048305	immunoglobulin secretion	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0002380	immunoglobulin secretion involved in immune response	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq