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Gene : AFF2 Homo sapiens

Name  ? AF4/FMR2 family member 2 Cytological Location  Xq28
Brief Description  AF4/FMR2 family member 2
description  This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 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 cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]
  • synonyms:
  • AFF2,
  • FMR2,
  • FMR2P,
  • NM_002025,
  • FMR2,
  • MRX2,
  • AF4/FMR2 family, member 2,
  • OX19,
  • uc004fcp.3,
  • fragile X mental retardation 2,
  • FRAXE,
  • HGNC:3776,
  • FRAXE,
  • U48436,
  • OTTHUMG00000022613
  • identifiers:
  • 2334,
  • ENSG00000155966,
  • AFF2

Genome feature

Region: gene ? Length: 500045  
Location: X:148500619-149000663 Cyto location: Xq28


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

333 SN Ps

4 Cross References

17 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results