• Gene id: 3899

Gene Summary

• Gene Symbol: AFF3   Gene   UCSC   Ensembl
• Aliases: LAF4, MLLT2-like
• Gene name: AF4/FMR2 family member 3
• Alternate names: AF4/FMR2 family member 3, MLLT2-related protein, lymphoid nuclear protein 4, lymphoid nuclear protein related to AF4, protein LAF-4,
• Gene location: 2q11.2 (100142589: 99545418)     Exons: 33     NC_000002.12
• Gene summary(Entrez): This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may fu

Protein Summary

• Protein general information: P51826  
  • Name: AF4/FMR2 family member 3 (Lymphoid nuclear protein related to AF4) (Protein LAF 4)
  • Length: 1226  
  • Mass: 133503
  • Tissue specificity: Preferentially expressed in lymphoid tissues, highest levels being found in the thymus.
• Sequence:

  MDSFDLALLQEWDLESLCVYEPDRNALRRKERERRNQETQQDDGTFNSSYSLFSEPYKTNKGDELSNRIQNTLGN
  YDEMKDFLTDRSNQSHLVGVPKPGVPQTPVNKIDEHFVADSRAQNQPSSICSTTTSTPAAVPVQQSKRGTMGWQK
  AGHPPSDGQQRATQQGSLRTLLGDGVGRQQPRAKQVCNVEVGLQTQERPPAMAAKHSSSGHCVQNFPPSLASKPS
  LVQQKPTAYVRPMDGQDQAPDESPKLKSSSETSVHCTSYRGVPASKPEPARAKAKLSKFSIPKQGEESRSGETNS
  CVEEIIREMTWLPPLSAIQAPGKVEPTKFPFPNKDSQLVSSGHNNPKKGDAEPESPDNGTSNTSMLEDDLKLSSD
  EEENEQQAAQRTALRALSDSAVVQQPNCRTSVPSSKGSSSSSSSGSSSSSSDSESSSGSDSETESSSSESEGSKP
  PHFSSPEAEPASSNKWQLDKWLNKVNPHKPPILIQNESHGSESNQYYNPVKEDVQDCGKVPDVCQPSLREKEIKS
  TCKEEQRPRTANKAPGSKGVKQKSPPAAVAVAVSAAAPPPAVPCAPAENAPAPARRSAGKKPTRRTERTSAGDGA
  NCHRPEEPAAADALGTSVVVPPEPTKTRPCGNNRASHRKELRSSVTCEKRRTRGLSRIVPKSKEFIETESSSSSS
  SSDSDLESEQEEYPLSKAQTVAASASSGNDQRLKEAAANGGSGPRAPVGSINARTTSDIAKELEEQFYTLVPFGR
  NELLSPLKDSDEIRSLWVKIDLTLLSRIPEHLPQEPGVLSAPATKDSESAPPSHTSDTPAEKALPKSKRKRKCDN
  EDDYREIKKSQGEKDSSSRLATSTSNTLSANHCNMNINSVAIPINKNEKMLRSPISPLSDASKHKYTSEDLTSSS
  RPNGNSLFTSASSSKKPKADSQLQPHGGDLTKAAHNNSENIPLHKSRPQTKPWSPGSNGHRDCKRQKLVFDDMPR
  SADYFMQEAKRMKHKADAMVEKFGKALNYAEAALSFIECGNAMEQGPMESKSPYTMYSETVELIRYAMRLKTHSG
  PNATPEDKQLAALCYRCLALLYWRMFRLKRDHAVKYSKALIDYFKNSSKAAQAPSPWGASGKSTGTPSPMSPNPS
  PASSVGSQGSLSNASALSPSTIVSIPQRIHQMAANHVSITNSILHSYDYWEMADNLAKENREFFNDLDLLMGPVT
  LHSSMEHLVQYSQQGLHWLRNSAHLS

• Structural information:
  • Interpro: IPR007797  
  • STRING: ENSP00000386834
• Other Databases: GeneCards:  AFF3  Malacards:  AFF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032783	super elongation complex	IBA	cellular component
GO:0008023	transcription elongation factor complex	IBA	cellular component
GO:0010468	regulation of gene expression	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0034612	response to tumor necrosis factor	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0035116	embryonic hindlimb morphogenesis	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq