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Aliases for AFF2 Gene

Aliases for AFF2 Gene

  • AF4/FMR2 Family, Member 2 2 3
  • FMR2 3 4 6
  • Fragile X E Mental Retardation Syndrome Protein 3 4
  • Fragile X Mental Retardation 2 Protein 3 4
  • Protein FMR-2 3 4
  • FRAXE 3 6
  • FMR2P 3 4
  • MRX2 3 6
  • OX19 3 4
  • Fragile X Mental Retardation 2 2
  • AF4/FMR2 Family Member 2 3
  • Protein Ox19 4

External Ids for AFF2 Gene

Previous HGNC Symbols for AFF2 Gene

  • FMR2

Previous GeneCards Identifiers for AFF2 Gene

  • GC0XP147288
  • GC0XP147389
  • GC0XP147582
  • GC0XP136538

Summaries for AFF2 Gene

Entrez Gene Summary for AFF2 Gene

  • 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 of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2009]

GeneCards Summary for AFF2 Gene

AFF2 (AF4/FMR2 Family, Member 2) is a Protein Coding gene. Diseases associated with AFF2 include mental retardation, x-linked, fraxe type and spotted fever. GO annotations related to this gene include G-quadruplex RNA binding. An important paralog of this gene is AFF1.

UniProtKB/Swiss-Prot for AFF2 Gene

  • RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.

Gene Wiki entry for AFF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFF2 Gene

Genomics for AFF2 Gene

Regulatory Elements for AFF2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AFF2 Gene

Start:
148,500,619 bp from pter
End:
149,000,663 bp from pter
Size:
500,045 bases
Orientation:
Plus strand

Genomic View for AFF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AFF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFF2 Gene

Proteins for AFF2 Gene

  • Protein details for AFF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51816-AFF2_HUMAN
    Recommended name:
    AF4/FMR2 family member 2
    Protein Accession:
    P51816
    Secondary Accessions:
    • A2RTY4
    • B4DXD5
    • B7WNQ1
    • B7ZLD6
    • B7ZLD9
    • O43786
    • O60215
    • P78407
    • Q13521
    • Q14323
    • Q7Z2F7
    • Q7Z400
    • Q9UNA5

    Protein attributes for AFF2 Gene

    Size:
    1311 amino acids
    Molecular mass:
    144771 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AFF2 Gene

neXtProt entry for AFF2 Gene

Proteomics data for AFF2 Gene at MOPED

Post-translational modifications for AFF2 Gene

  • Ubiquitination at Lys404
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AFF2 Gene

Domains for AFF2 Gene

Protein Domains for AFF2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AFF2 Gene

Graphical View of Domain Structure for InterPro Entry

P51816

UniProtKB/Swiss-Prot:

AFF2_HUMAN :
  • P51816
Family:
  • Belongs to the AF4 family.
genes like me logo Genes that share domains with AFF2: view

No data available for Gene Families for AFF2 Gene

Function for AFF2 Gene

Molecular function for AFF2 Gene

UniProtKB/Swiss-Prot Function: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.

Gene Ontology (GO) - Molecular Function for AFF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002151 G-quadruplex RNA binding ISS --
genes like me logo Genes that share ontologies with AFF2: view
genes like me logo Genes that share phenotypes with AFF2: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AFF2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for AFF2 Gene

Localization for AFF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFF2 Gene

Nucleus speckle. Note=When splicing is inhibited, accumulates in enlarged speckles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AFF2 Gene COMPARTMENTS Subcellular localization image for AFF2 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for AFF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016607 nuclear speck IDA 19136466
genes like me logo Genes that share ontologies with AFF2: view

Pathways for AFF2 Gene

SuperPathways for AFF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AFF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0007420 brain development TAS 8673086
GO:0007611 learning or memory --
GO:0008380 RNA splicing IEA --
GO:0043484 regulation of RNA splicing IMP 19136466
genes like me logo Genes that share ontologies with AFF2: view

No data available for Pathways by source for AFF2 Gene

Compounds for AFF2 Gene

(1) Novoseek inferred chemical compound relationships for AFF2 Gene

Compound -log(P) Hits PubMed IDs
folate 18.2 2
genes like me logo Genes that share compounds with AFF2: view

Transcripts for AFF2 Gene

Unigene Clusters for AFF2 Gene

AF4/FMR2 family, member 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AFF2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for AFF2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AFF2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: -
SP2: - - -
SP3: - - -

Relevant External Links for AFF2 Gene

GeneLoc Exon Structure for
AFF2
ECgene alternative splicing isoforms for
AFF2

Expression for AFF2 Gene

mRNA expression in normal human tissues for AFF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AFF2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (6.9), Brain - Cerebellum (4.9), and Pituitary (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AFF2 Gene

SOURCE GeneReport for Unigene cluster for AFF2 Gene Hs.496911

mRNA Expression by UniProt/SwissProt for AFF2 Gene

P51816-AFF2_HUMAN
Tissue specificity: Brain (most abundant in hippocampus and amygdala), placenta and lung
genes like me logo Genes that share expressions with AFF2: view

In Situ Assay Products

Orthologs for AFF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for AFF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AFF2 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AFF2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AFF2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aff2 16
Aff2 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AFF2 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 60 (a)
OneToMany
-- 36
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves AFF2 35
  • 68.7 (n)
  • 62.26 (a)
AFF2 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AFF2 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aff2 35
  • 64.83 (n)
  • 60.62 (a)
zebrafish
(Danio rerio)
Actinopterygii aff2 36
  • 52 (a)
OneToOne
LOC100330019 35
  • 61.63 (n)
  • 57.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta lilli 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4989 36
  • 16 (a)
OneToMany
Species with no ortholog for AFF2:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for AFF2 Gene

ENSEMBL:
Gene Tree for AFF2 (if available)
TreeFam:
Gene Tree for AFF2 (if available)

Paralogs for AFF2 Gene

Paralogs for AFF2 Gene

Selected SIMAP similar genes for AFF2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AFF2: view

Variants for AFF2 Gene

Sequence variations from dbSNP and Humsavar for AFF2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs25582 -- 148,717,399(-) CATCC(-/CCTAGCC)TCTGG intron-variant, upstream-variant-2KB
rs184776 -- 148,731,808(+) gccaa(A/C)aaata intron-variant
rs241082 -- 148,709,469(+) TGTTA(C/T)TTGTC intron-variant
rs241083 -- 148,715,842(+) TTTAA(A/T)ATGTT intron-variant
rs241084 -- 148,719,224(+) CTTCA(A/G)GATGA intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AFF2 Gene

Variant ID Type Subtype PubMed ID
nsv523386 CNV Gain 19592680
esv2740588 CNV Deletion 23290073
dgv1385e201 CNV Deletion 23290073
esv2740817 CNV Deletion 23290073
esv2740590 CNV Deletion 23290073
nsv527473 CNV Gain 19592680
esv1401412 CNV Insertion 17803354
esv1732096 CNV Insertion 17803354
esv1373270 CNV Insertion 17803354
esv1297644 CNV Insertion 17803354
esv1254777 CNV Insertion 17803354
esv1234642 CNV Insertion 17803354
esv274218 CNV Insertion 20981092
nsv7142 CNV Insertion 18451855
esv1682218 CNV Insertion 17803354
nsv515740 CNV Gain 19592680
nsv525908 CNV Gain 19592680
nsv7144 CNV Loss 18451855

Relevant External Links for AFF2 Gene

HapMap Linkage Disequilibrium report
AFF2
Human Gene Mutation Database (HGMD)
AFF2
Locus Specific Mutation Databases (LSDB)
AFF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFF2 Gene

Disorders for AFF2 Gene

(1) OMIM Diseases for AFF2 Gene (300806)

UniProtKB/Swiss-Prot

AFF2_HUMAN
  • Mental retardation, X-linked, associated with fragile site FRAXE (MRFRAXE) [MIM:309548]: A form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:19136466, ECO:0000269 PubMed:21739600}. Note=The disease is caused by mutations affecting the gene represented in this entry. It is caused either by silencing of the AFF2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene. Loss of AFF2 expression is correlated with FRAXE CCG(N) expansion. Normal individuals have 6-35 copies of the repeat, whereas cytogenetically positive, developmentally delayed males have more than 200 copies and show methylation of the associated CPG island.

(7) Novoseek inferred disease relationships for AFF2 Gene

Disease -log(P) Hits PubMed IDs
fraxe syndrome 96.6 2
fragile x syndrome 85.7 2
mental retardation 81.7 22
moderate mental retardation 77.9 1
mild mental retardation 74.2 2

Relevant External Links for AFF2

Genetic Association Database (GAD)
AFF2
Human Genome Epidemiology (HuGE) Navigator
AFF2
genes like me logo Genes that share disorders with AFF2: view

Publications for AFF2 Gene

  1. Identification of the gene FMR2, associated with FRAXE mental retardation. (PMID: 8673085) Gecz J. … Mulley J.C. (Nat. Genet. 1996) 3 4 23
  2. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. (PMID: 8673086) Gu Y. … Nelson D.L. (Nat. Genet. 1996) 3 4 23
  3. Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. (PMID: 11119302) Sharma D. … Thelma B.K. (Genet. Epidemiol. 2001) 3 23 48
  4. Expression of the murine homologue of FMR2 in mouse brain and during development. (PMID: 9467002) Chakrabarti L. … Davies K.E. (Hum. Mol. Genet. 1998) 3 4 23
  5. FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. (PMID: 19136466) Bensaid M. … Bardoni B. (Nucleic Acids Res. 2009) 3 4 23

Products for AFF2 Gene

Sources for AFF2 Gene

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