AFF2

GENE INFORMATION

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Gene name

AFF2 (HGNC Symbol)

Synonyms

FMR2, FRAXE

Description

AF4/FMR2 family, member 2 (HGNC Symbol)

Entrez gene summary

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 mental retardation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2009]

Chromosome

X

Cytoband

q28

Chromosome location (bp)

148500619 - 149000663

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000155966 (version 78.38)

Entrez gene

2334

UniProt

P51816 (UniProt - Evidence at protein level)

neXtProt

NX_P51816

Antibodypedia

AFF2 antibodies
 

PROTEIN VIEW

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AFF2-001
 
AFF2-002
 
AFF2-003
 
AFF2-201
 
AFF2-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AFF2-001 ENSP00000359489
ENST00000370460
P51816
Show all »
Show » Show » 1311 144.8 No 0
AFF2-002 ENSP00000359487
ENST00000370458
P51816
Show all »
Show » Show » 427 47.7 No 0
AFF2-003 ENSP00000345459
ENST00000342251
F8W6J4
Show all »
Show » 1278 141.1 No 0
AFF2-201 ENSP00000286437
ENST00000286437
P51816
Show all »
Show » Show » 952 105.1 No 0
AFF2-202 ENSP00000359486
ENST00000370457
P51816
Show all »
Show » Show » 1276 141 No 0