Property Summary

NCBI Gene PubMed Count 39
Grant Count 5
R01 Count 3
Funding $280,944.57
PubMed Score 292.57
PubTator Score 71.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
posterior fossa group A ependymoma -2.100 0.000
glioblastoma -1.500 0.000
atypical teratoid/rhabdoid tumor -1.500 0.000
adult high grade glioma -1.700 0.000
group 3 medulloblastoma 1.200 0.008
pilocytic astrocytoma -1.600 0.000
subependymal giant cell astrocytoma -2.083 0.019
ovarian cancer 1.200 0.000
pituitary cancer -2.600 0.000
psoriasis -1.500 0.000

Gene RIF (10)

PMID Text
25256661 Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.
23562910 FMR2 is an upstream regulator of FOS and JUN, and further link deregulation of the immediate early response genes to the pathology of ID- and FRAXE-associated ID in particular.
22773736 2.5% of males Autism spectrum disorder patients had missense mutations in AFF2 at highly conserved evolutionary sites.
22065534 A report of novel deletions involving AFF2 provide evidence for a new mutational spectrum, microdeletions, that are responsible for Fragile X E in a small subset of patients.
21330300 overexpression of AFF2/3/4 interferes with the organization and/or biogenesis of nuclear speckles.
21254876 CGG/GCC repeat polymorphism at the FMR1 and FMR2 loci observed in this study demonstrated a racial and ethnic variation among the populations in India.
20734064 Observational study of gene-disease association. (HuGE Navigator)
19460752 Knockdown of AF4/FMR2 family, member 2 (AFF2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
17196195 FMR1 transcripts were detected in foreskin and male fetal lung fibroblasts, while FMR2 transcripts were not. However, both FMR1 and FMR2 were found to replicate late in S phase (approximately 6 h into the S phase of normal human fibroblasts).
11119302 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)

AA Sequence

MDLFDFFRDWDLEQQCHYEQDRSALKKREWERRNQEVQQEDDLFSSGFDLFGEPYKVAEYTNKGDALANR      1 - 70
VQNTLGNYDEMKNLLTNHSNQNHLVGIPKNSVPQNPNNKNEPSFFPEQKNRIIPPHQDNTHPSAPMPPPS     71 - 140
VVILNSTLIHSNRKSKPEWSRDSHNPSTVLASQASGQPNKMQTLTQDQSQAKLEDFFVYPAEQPQIGEVE    141 - 210
ESNPSAKEDSNPNSSGEDAFKEIFQSNSPEESEFAVQAPGSPLVASSLLAPSSGLSVQNFPPGLYCKTSM    211 - 280
GQQKPTAYVRPMDGQDQAPDISPTLKPSIEFENSFGNLSFGTLLDGKPSAASSKTKLPKFTILQTSEVSL    281 - 350
PSDPSCVEEILREMTHSWPTPLTSMHTAGHSEQSTFSIPGQESQHLTPGFTLQKWNDPTTRASTKSVSFK    351 - 420
SMLEDDLKLSSDEDDLEPVKTLTTQCTATELYQAVEKAKPRNNPVNPPLATPQPPPAVQASGGSGSSSES    421 - 490
ESSSESDSDTESSTTDSESNEAPRVATPEPEPPSTNKWQLDKWLNKVTSQNKSFICGQNETPMETISLPP    491 - 560
PIIQPMEVQMKVKTNASQVPAEPKERPLLSLIREKARPRPTQKIPETKALKHKLSTTSETVSQRTIGKKQ    561 - 630
PKKVEKNTSTDEFTWPKPNITSSTPKEKESVELHDPPRGRNKATAHKPAPRKEPRPNIPLAPEKKKYRGP    631 - 700
GKIVPKSREFIETDSSTSDSNTDQEETLQIKVLPPCIISGGNTAKSKEICGASLTLSTLMSSSGSNNNLS    701 - 770
ISNEEPTFSPIPVMQTEILSPLRDHENLKNLWVKIDLDLLSRVPGHSSLHAAPAKPDHKETATKPKRQTA    771 - 840
VTAVEKPAPKGKRKHKPIEVAEKIPEKKQRLEEATTICLLPPCISPAPPHKPPNTRENNSSRRANRRKEE    841 - 910
KLFPPPLSPLPEDPPRRRNVSGNNGPFGQDKNIAMTGQITSTKPKRTEGKFCATFKGISVNEGDTPKKAS    911 - 980
SATITVTNTAIATATVTATAIVTTTVTATATATATTTTTTTTISTITSTITTGLMDSSHLEMTSWAALPL    981 - 1050
LSSSSTNVRRPKLTFDDSVHNADYYMQEAKKLKHKADALFEKFGKAVNYADAALSFTECGNAMERDPLEA   1051 - 1120
KSPYTMYSETVELLRYAMRLKNFASPLASDGDKKLAVLCYRCLSLLYLRMFKLKKDHAMKYSRSLMEYFK   1121 - 1190
QNASKVAQIPSPWVSNGKNTPSPVSLNNVSPINAMGNCNNGPVTIPQRIHHMAASHVNITSNVLRGYEHW   1191 - 1260
DMADKLTRENKEFFGDLDTLMGPLTQHSSMTNLVRYVRQGLCWLRIDAHLL                      1261 - 1311
//

Text Mined References (43)

PMID Year Title
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25256661 2014 Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.
23562910 2013 Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.
22773736 2012 Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.
22065534 2011 Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
21739600 2011 Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
21330300 2011 Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.
21254876 2011 Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
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