AFF2 (AF4/FMR2 family member 2)

2014-11-01  

Identity

HGNC
AFF2
LOCATION
Xq28
LOCUSID
2334
ALIAS
FMR2,FMR2P,FRAXE,MRX2,OX19,XLID109
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2334
MIM: 300806
HGNC: 3776
Ensembl: ENSG00000155966

Variants:

dbSNP: 2334
ClinVar: 2334
TCGA: ENSG00000155966
COSMIC: AFF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155966ENST00000286437P51816
ENSG00000155966ENST00000342251P51816
ENSG00000155966ENST00000370457P51816
ENSG00000155966ENST00000370458P51816
ENSG00000155966ENST00000370460P51816

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
213303002011Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.21
227737362012Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.15
171961952007Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1.10
220655342011Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.7
235629102013Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.7
317845362019Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD.7
111193022001Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.6
252566612014Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.1
212548762011Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.0

Citation

Dessen P

AFF2 (AF4/FMR2 family member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60180/aff2