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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

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