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

Gene ID: 2334, updated on 20-Dec-2019

Summary

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
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 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]
Expression
Biased expression in placenta (RPKM 3.7), bone marrow (RPKM 2.5) and 8 other tissues See more
Orthologs

Genomic context

See AFF2 in Genome Data Viewer
Location:
Xq28
Exon count:
22
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (148500617..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 origin of replication in 5' region of AFF2/FMR2 Neighboring gene FRAXE repeat instability region Neighboring gene ribosomal protein L7 like 1 pseudogene 11 Neighboring gene RN7SK pseudogene 267 Neighboring gene uncharacterized LOC107985667 Neighboring gene IDS recombination region Neighboring gene iduronate 2-sulfatase

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-quadruplex RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-quadruplex RNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
NOT ELL-EAF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear speck IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT transcription elongation factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
AF4/FMR2 family member 2
Names
fragile X E mental retardation syndrome protein
fragile X mental retardation 2 protein
protein FMR-2

NCBI Reference Sequences (RefSeq)

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_016313.2 RefSeqGene

    Range
    4999..505045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001169122.2NP_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)
    AC002368, AC231841, L76569, U48436
    Consensus CDS
    CCDS78510.1
    UniProtKB/Swiss-Prot
    P51816
    Related
    ENSP00000345459.4, ENST00000342251.7
    Conserved Domains (1) summary
    pfam05110
    Location:191273
    AF-4; AF-4 proto-oncoprotein
  2. NM_001169123.2NP_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)
    AC002368, AC231841, BC132683, U48436
    UniProtKB/Swiss-Prot
    P51816
    Conserved Domains (1) summary
    pfam05110
    Location:191298
    AF-4; AF-4 proto-oncoprotein
  3. NM_001169124.2NP_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)
    AC002368, AC231841, BC143744, U48436
    Consensus CDS
    CCDS76040.1
    UniProtKB/Swiss-Prot
    P51816
    Related
    ENSP00000359486.6, ENST00000370457.9
    Conserved Domains (1) summary
    pfam05110
    Location:191273
    AF-4; AF-4 proto-oncoprotein
  4. NM_001169125.2NP_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)
    AC002368, 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_002025.4NP_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)
    AC002368, AC231841, BC132683, BC143744, L76569
    Consensus CDS
    CCDS14684.1
    UniProtKB/Swiss-Prot
    P51816
    Related
    ENSP00000359489.2, ENST00000370460.7
    Conserved Domains (1) summary
    pfam05110
    Location:191308
    AF-4; AF-4 proto-oncoprotein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    148500617..149000663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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