• Gene id: 2334

Gene Summary

• Gene Symbol: AFF2   Gene   UCSC   Ensembl
• Aliases: FMR2, FMR2P, FRAXE, MRX2, OX19
• Gene name: AF4/FMR2 family member 2
• Alternate names: AF4/FMR2 family member 2, fragile X E mental retardation syndrome protein, fragile X mental retardation 2 protein, protein FMR-2,
• Gene location: Xq28 (148500616: 149000662)     Exons: 4     NC_000023.11
• Gene summary(Entrez): This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing o
• OMIM: 300806

Protein Summary

• Protein general information: P51816  
  • Name: AF4/FMR2 family member 2 (Fragile X E mental retardation syndrome protein) (Fragile X mental retardation 2 protein) (FMR2P) (Protein FMR 2) (Protein Ox19)
  • Length: 1311  
  • Mass: 144771
  • Tissue specificity: Brain (most abundant in hippocampus and amygdala), placenta and lung.
• Sequence:

  MDLFDFFRDWDLEQQCHYEQDRSALKKREWERRNQEVQQEDDLFSSGFDLFGEPYKVAEYTNKGDALANRVQNTL
  GNYDEMKNLLTNHSNQNHLVGIPKNSVPQNPNNKNEPSFFPEQKNRIIPPHQDNTHPSAPMPPPSVVILNSTLIH
  SNRKSKPEWSRDSHNPSTVLASQASGQPNKMQTLTQDQSQAKLEDFFVYPAEQPQIGEVEESNPSAKEDSNPNSS
  GEDAFKEIFQSNSPEESEFAVQAPGSPLVASSLLAPSSGLSVQNFPPGLYCKTSMGQQKPTAYVRPMDGQDQAPD
  ISPTLKPSIEFENSFGNLSFGTLLDGKPSAASSKTKLPKFTILQTSEVSLPSDPSCVEEILREMTHSWPTPLTSM
  HTAGHSEQSTFSIPGQESQHLTPGFTLQKWNDPTTRASTKSVSFKSMLEDDLKLSSDEDDLEPVKTLTTQCTATE
  LYQAVEKAKPRNNPVNPPLATPQPPPAVQASGGSGSSSESESSSESDSDTESSTTDSESNEAPRVATPEPEPPST
  NKWQLDKWLNKVTSQNKSFICGQNETPMETISLPPPIIQPMEVQMKVKTNASQVPAEPKERPLLSLIREKARPRP
  TQKIPETKALKHKLSTTSETVSQRTIGKKQPKKVEKNTSTDEFTWPKPNITSSTPKEKESVELHDPPRGRNKATA
  HKPAPRKEPRPNIPLAPEKKKYRGPGKIVPKSREFIETDSSTSDSNTDQEETLQIKVLPPCIISGGNTAKSKEIC
  GASLTLSTLMSSSGSNNNLSISNEEPTFSPIPVMQTEILSPLRDHENLKNLWVKIDLDLLSRVPGHSSLHAAPAK
  PDHKETATKPKRQTAVTAVEKPAPKGKRKHKPIEVAEKIPEKKQRLEEATTICLLPPCISPAPPHKPPNTRENNS
  SRRANRRKEEKLFPPPLSPLPEDPPRRRNVSGNNGPFGQDKNIAMTGQITSTKPKRTEGKFCATFKGISVNEGDT
  PKKASSATITVTNTAIATATVTATAIVTTTVTATATATATTTTTTTTISTITSTITTGLMDSSHLEMTSWAALPL
  LSSSSTNVRRPKLTFDDSVHNADYYMQEAKKLKHKADALFEKFGKAVNYADAALSFTECGNAMERDPLEAKSPYT
  MYSETVELLRYAMRLKNFASPLASDGDKKLAVLCYRCLSLLYLRMFKLKKDHAMKYSRSLMEYFKQNASKVAQIP
  SPWVSNGKNTPSPVSLNNVSPINAMGNCNNGPVTIPQRIHHMAASHVNITSNVLRGYEHWDMADKLTRENKEFFG
  DLDTLMGPLTQHSSMTNLVRYVRQGLCWLRIDAHLL

• Structural information:
  • Interpro: IPR007797  
  • STRING: ENSP00000359489
• Other Databases: GeneCards:  AFF2  Malacards:  AFF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0010468	regulation of gene expression	IBA	biological process
GO:0016607	nuclear speck	IBA	cellular component
GO:0043484	regulation of RNA splicing	IBA	biological process
GO:0002151	G-quadruplex RNA binding	IBA	molecular function
GO:0008023	transcription elongation factor complex	IBA	NOT|cellular component
GO:0032783	super elongation complex	IBA	NOT|cellular component
GO:0002151	G-quadruplex RNA binding	ISS	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007420	brain development	TAS	biological process
GO:0035063	nuclear speck organization	IMP	biological process
GO:0010468	regulation of gene expression	IMP	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0002151	G-quadruplex RNA binding	IEA	molecular function
GO:0043484	regulation of RNA splicing	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0043484	regulation of RNA splicing	IMP	biological process

Diseases

Associated diseases	References
Syndromic X-linked mental retardation	KEGG:H00658
Syndromic X-linked mental retardation	KEGG:H00658
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray