AFF2

GENERAL INFORMATION

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Gene name

AFF2

Gene description

AF4/FMR2 family, member 2

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (bone marrow, placenta)
GTEx:Tissue enhanced (cerebellum)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Uncertain based on 1 antibody.
HPA003139
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (bone marrow, placenta)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum)

Organ

Expression



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 BROWSER

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ENST00000286437
 
ENST00000342251
 
ENST00000370457
 
ENST00000370458
 
ENST00000370460
 
 
 
 


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
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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