Tissue expression of AFF2 - Summary - The Human Protein Atlas

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AFF2

TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
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

RNA tissue category

HPA:	Tissue enhanced (placenta, epididymis)
GTEx:	Tissue enhanced (cerebellum, pituitary gland)
FANTOM5:	Tissue enhanced (pituitary gland, cerebellum)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in several tissues.

DATA RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded.
Reliability score	Approved based on 1 antibody. HPA003139
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

N/A

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (placenta, epididymis)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebellum, pituitary gland)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (pituitary gland, cerebellum)

GENE INFORMATION
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 83.38)
Entrez gene	2334
UniProt	P51816 (UniProt - Evidence at protein level)
neXtProt	NX_P51816
Antibodypedia	AFF2 antibodies

PROTEIN BROWSER

AFF2-001	AFF2-002	AFF2-003	AFF2-004	AFF2-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
AFF2-001 ENSP00000359489 ENST00000370460	P51816 [Direct mapping] AF4/FMR2 family member 2 Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0002151 [G-quadruplex RNA binding] GO:0006397 [mRNA processing] GO:0007420 [brain development] GO:0007611 [learning or memory] GO:0008380 [RNA splicing] GO:0016607 [nuclear speck] GO:0043484 [regulation of RNA splicing] Show all	1311 aa 144.8 kDa	No	0
AFF2-002 ENSP00000359487 ENST00000370458	P51816 [Direct mapping] AF4/FMR2 family member 2 Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0002151 [G-quadruplex RNA binding] GO:0006397 [mRNA processing] GO:0007420 [brain development] GO:0008380 [RNA splicing] GO:0016607 [nuclear speck] GO:0043484 [regulation of RNA splicing] Show all	427 aa 47.7 kDa	No	0
AFF2-003 ENSP00000345459 ENST00000342251	P51816 [Direct mapping] AF4/FMR2 family member 2 Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0002151 [G-quadruplex RNA binding] GO:0006397 [mRNA processing] GO:0007420 [brain development] GO:0008380 [RNA splicing] GO:0016607 [nuclear speck] GO:0043484 [regulation of RNA splicing] Show all	1276 aa 140.9 kDa	No	0
AFF2-004 ENSP00000359486 ENST00000370457	P51816 [Direct mapping] AF4/FMR2 family member 2 Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0002151 [G-quadruplex RNA binding] GO:0006397 [mRNA processing] GO:0007420 [brain development] GO:0008380 [RNA splicing] GO:0016607 [nuclear speck] GO:0043484 [regulation of RNA splicing] Show all	1276 aa 141 kDa	No	0
AFF2-201 ENSP00000286437 ENST00000286437	P51816 [Direct mapping] AF4/FMR2 family member 2 Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0002151 [G-quadruplex RNA binding] GO:0006397 [mRNA processing] GO:0007420 [brain development] GO:0008380 [RNA splicing] GO:0016607 [nuclear speck] GO:0043484 [regulation of RNA splicing] Show all	952 aa 105.1 kDa	No	0

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.