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    AFF2 AF4/FMR2 family member 2 [ Homo sapiens (human) ]

    Gene ID: 2334, updated on 25-May-2017
    Official Symbol
    AFF2provided by HGNC
    Official Full Name
    AF4/FMR2 family member 2provided by HGNC
    Primary source
    HGNC:HGNC:3776
    See related
    Ensembl:ENSG00000155966 MIM:300806; Vega:OTTHUMG00000022613
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FMR2; MRX2; OX19; FMR2P; FRAXE
    Summary
    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. 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]
    Orthologs
    Location:
    Xq28
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (148500619..149000663)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (147582139..148082193)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene HCLS1 associated protein X-1 pseudogene Neighboring gene ribosomal protein L7 like 1 pseudogene 11 Neighboring gene RNA, 7SK small nuclear pseudogene 267 Neighboring gene uncharacterized LOC107985667 Neighboring gene iduronate 2-sulfatase

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    FRAXE
    MedGen: C0751157 OMIM: 309548 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

    ClinGen Genome Curation PagePubMed

    Replication interactions

    Interaction Pubs
    Knockdown of AF4/FMR2 family, member 2 (AFF2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-quadruplex RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    brain development TAS
    Traceable Author Statement
    more info
    PubMed 
    learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear speck organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of RNA splicing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    AF4/FMR2 family member 2
    Names
    fragile X E mental retardation syndrome protein
    fragile X mental retardation 2 protein
    protein FMR-2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016313.1 RefSeqGene

      Range
      5001..505055
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001169122.1NP_001162593.1  AF4/FMR2 family member 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC231841, L76569, U48436
      Consensus CDS
      CCDS78510.1
      UniProtKB/Swiss-Prot
      P51816
      Related
      ENSP00000345459.4, OTTHUMP00000024206, ENST00000342251.7, OTTHUMT00000058675
      Conserved Domains (1) summary
      pfam05110
      Location:191273
      AF-4; AF-4 proto-oncoprotein
    2. NM_001169123.1NP_001162594.1  AF4/FMR2 family member 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC231841, BC132683, U48436
      UniProtKB/Swiss-Prot
      P51816
      Conserved Domains (1) summary
      pfam05110
      Location:191298
      AF-4; AF-4 proto-oncoprotein
    3. NM_001169124.1NP_001162595.1  AF4/FMR2 family member 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AC231841, BC143744, U48436
      Consensus CDS
      CCDS76040.1
      UniProtKB/Swiss-Prot
      P51816
      Related
      ENSP00000359486.6, OTTHUMP00000280999, ENST00000370457.9, OTTHUMT00000487796
      Conserved Domains (1) summary
      pfam05110
      Location:191273
      AF-4; AF-4 proto-oncoprotein
    4. NM_001169125.1NP_001162596.1  AF4/FMR2 family member 2 isoform 5

      See identical proteins and their annotated locations for NP_001162596.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AC231841, BC143740, U48436
      UniProtKB/Swiss-Prot
      P51816
      Conserved Domains (1) summary
      pfam05110
      Location:191269
      AF-4; AF-4 proto-oncoprotein
    5. NM_001170628.1NP_001164099.1  AF4/FMR2 family member 2 isoform 6

      See identical proteins and their annotated locations for NP_001164099.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (6) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC002368, AC231841, AK301927
      Consensus CDS
      CCDS55521.1
      UniProtKB/Swiss-Prot
      P51816
      Related
      ENSP00000286437.5, ENST00000286437.7
      Conserved Domains (1) summary
      pfam05110
      Location:18949
      AF-4; AF-4 proto-oncoprotein
    6. NM_002025.3NP_002016.2  AF4/FMR2 family member 2 isoform 1

      See identical proteins and their annotated locations for NP_002016.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC231841, U48436
      Consensus CDS
      CCDS14684.1
      UniProtKB/Swiss-Prot
      P51816
      Related
      ENSP00000359489.2, OTTHUMP00000024204, ENST00000370460.6, OTTHUMT00000058673
      Conserved Domains (1) summary
      pfam05110
      Location:191308
      AF-4; AF-4 proto-oncoprotein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      148500619..149000663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      147493410..147993320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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