NP_001162593.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
105,116 Da
NCBI Official Full Name
AF4/FMR2 family member 2 isoform 2
NCBI Official Synonym Full Names
AF4/FMR2 family member 2
NCBI Protein Information
AF4/FMR2 family member 2
UniProt Protein Name
AF4/FMR2 family member 2
UniProt Synonym Protein Names
Fragile X E mental retardation syndrome protein; Fragile X mental retardation 2 protein; FMR2P; Protein FMR-2; Protein Ox19
UniProt Synonym Gene Names
NCBI Summary for AFF2
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]
UniProt Comments for AFF2
RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.
Research Articles on AFF2
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Diseases associated with anti-AFF2 antibody
Organs/Tissues associated with anti-AFF2 antibody
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