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    Aff2 AF4/FMR2 family, member 2 [ Mus musculus (house mouse) ]

    Gene ID: 14266, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Aff2provided by MGI
    Official Full Name
    AF4/FMR2 family, member 2provided by MGI
    Primary source
    MGI:MGI:1202294
    See related
    Ensembl:ENSMUSG00000031189 AllianceGenome:MGI:1202294
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Oxh; Fmr2; Ox19; FMR2P
    Summary
    Enables G-quadruplex RNA binding activity. Involved in regulation of RNA splicing. Acts upstream of or within learning or memory and negative regulation of gene expression. Located in nuclear speck. Is expressed in several structures, including branchial arch; heart; limb; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in X-linked intellectual developmental disorder 109. Orthologous to human AFF2 (ALF transcription elongation factor 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in whole brain E14.5 (RPKM 3.1), CNS E14 (RPKM 3.0) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Aff2 in Genome Data Viewer
    Location:
    X A7.1- A7.2; X 35.53 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (68403796..68915660)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (69360190..69872054)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_47303 Neighboring gene STARR-seq mESC enhancer starr_47304 Neighboring gene quinolinate phosphoribosyltransferase pseudogene Neighboring gene nuclear encoded rRNA 5S 7 Neighboring gene STARR-seq mESC enhancer starr_47305 Neighboring gene STARR-seq mESC enhancer starr_47306 Neighboring gene STARR-seq mESC enhancer starr_47307 Neighboring gene STARR-seq mESC enhancer starr_47308 Neighboring gene ribosomal protein S6 pseudogene Neighboring gene RIKEN cDNA 1700111N16 gene Neighboring gene RIKEN cDNA 1700020N15 gene Neighboring gene STARR-seq mESC enhancer starr_47309 Neighboring gene STARR-seq mESC enhancer starr_47310 Neighboring gene STARR-seq mESC enhancer starr_47311 Neighboring gene STARR-seq mESC enhancer starr_47312 Neighboring gene STARR-seq mESC enhancer starr_47313 Neighboring gene STARR-seq mESC enhancer starr_47315 Neighboring gene iduronate 2-sulfatase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. FMR2 function: insight from a mouse knockout model. Gu Y, et al. Cytogenet Genome Res, 2003. PMID 14526173
    2. A candidate gene for mild mental handicap at the FRAXE fragile site. Chakrabarti L, et al. Hum Mol Genet, 1996 Feb. PMID 8824884
    3. Expression of the murine homologue of FMR2 in mouse brain and during development. Chakrabarti L, et al. Hum Mol Genet, 1998 Mar. PMID 9467002
    4. The mouse Laf4 gene: exon/intron organization, cDNA sequence, alternative splicing, and expression during central nervous system development. Britanova O, et al. Genomics, 2002 Jul. PMID 12079280
    5. CircAFF2 Promotes Neuronal Cell Injury in Intracerebral Hemorrhage by Regulating the miR-488/CLSTN3 Axis. Qi J, et al. Neuroscience, 2023 Dec 15. PMID 37884088

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircAFF2 Promotes Neuronal Cell Injury in Intracerebral Hemorrhage by Regulating the miR-488/CLSTN3 Axis.
      Title: CircAFF2 Promotes Neuronal Cell Injury in Intracerebral Hemorrhage by Regulating the miR-488/CLSTN3 Axis.
    2. Overlapping expression of Af9 with Af4/Aff1 and Fmr2/Aff2, two genes that are also related to neurodevelopmental diseases, as well as with the highly homologous Enl.
      Title: Expression of Leukaemia associated transcription factor Af9/Mllt3 in the cerebral cortex of the mouse.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables G-quadruplex RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G-quadruplex RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within learning or memory IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within nuclear speck organization ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of RNA splicing ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nuclear speck IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT part_of super elongation complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    AF4/FMR2 family member 2
    Names
    Ox19 homolog
    protein FMR-2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_008032.4 → NP_032058.2  AF4/FMR2 family member 2

      See identical proteins and their annotated locations for NP_032058.2

      Status: VALIDATED

      Source sequence(s)
      AL663113, AL672120, AL808131, BX294655
      Consensus CDS
      CCDS30173.1
      UniProtKB/Swiss-Prot
      B1ATW0, O55112
      Related
      ENSMUSP00000033532.7, ENSMUST00000033532.7
      Conserved Domains (1) summary
      pfam05110
      Location:19 → 1269
      AF-4; AF-4 proto-oncoprotein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      68403796..68915660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527821.4 → XP_006527884.1  AF4/FMR2 family member 2 isoform X6

      Conserved Domains (1) summary
      pfam05110
      Location:19 → 1271
      AF-4; AF-4 proto-oncoprotein

    2. XM_030251226.1 → XP_030107086.1  AF4/FMR2 family member 2 isoform X7

      Conserved Domains (1) summary
      pfam05110
      Location:19 → 1265
      AF-4; AF-4 proto-oncoprotein

    3. XM_006527820.4 → XP_006527883.1  AF4/FMR2 family member 2 isoform X5

      Conserved Domains (1) summary
      pfam05110
      Location:19 → 1275
      AF-4; AF-4 proto-oncoprotein

    4. XM_006527816.5 → XP_006527879.1  AF4/FMR2 family member 2 isoform X1

      Conserved Domains (1) summary
      pfam05110
      Location:49 → 1305
      AF-4; AF-4 proto-oncoprotein

    5. XM_006527817.5 → XP_006527880.1  AF4/FMR2 family member 2 isoform X2

      Conserved Domains (1) summary
      pfam05110
      Location:49 → 1301
      AF-4; AF-4 proto-oncoprotein

    6. XM_006527818.5 → XP_006527881.1  AF4/FMR2 family member 2 isoform X3

      Conserved Domains (1) summary
      pfam05110
      Location:49 → 1299
      AF-4; AF-4 proto-oncoprotein

    7. XM_006527819.5 → XP_006527882.1  AF4/FMR2 family member 2 isoform X4

      Conserved Domains (1) summary
      pfam05110
      Location:49 → 1295
      AF-4; AF-4 proto-oncoprotein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O55112.2 GenPept UniProtKB/Swiss-Prot:O55112

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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