FXR2 (FMR1 autosomal homolog 2)

2003-05-01  

Identity

HGNC
FXR2
LOCATION
17p13.1
LOCUSID
9513
ALIAS
FMR1L2,FXR2P
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9513
MIM: 605339
HGNC: 4024
Ensembl: ENSG00000129245

Variants:

dbSNP: 9513
ClinVar: 9513
TCGA: ENSG00000129245
COSMIC: FXR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129245ENST00000250113P51116
ENSG00000129245ENST00000571597I3L1Z2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013

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
salivary gland
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
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotation, VariantAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotation, VariantAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
194873682009Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs.49
204422042010Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P.35
210721622010Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2.29
266128552015Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.17
287670392017FXR1 regulates transcription and is required for growth of human cancer cells with TP53/FXR2 homozygous deletion.4

Citation

Dessen P

FXR2 (FMR1 autosomal homolog 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40651/fxr2