FXR2 (FMR1 autosomal homolog 2)

2003-05-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
FMR1L2,FXR2P
FUSION GENES

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

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

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

References

Pubmed IDYearTitleCitations
385874862024LLPS of FXR proteins drives replication organelle clustering for β-coronaviral proliferation.2
385874862024LLPS of FXR proteins drives replication organelle clustering for β-coronaviral proliferation.2
327061582020Spatial control of nucleoporin condensation by fragile X-related proteins.13
328784992020Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer.22
327061582020Spatial control of nucleoporin condensation by fragile X-related proteins.13
328784992020Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer.22
287670392017FXR1 regulates transcription and is required for growth of human cancer cells with TP53/FXR2 homozygous deletion.18
287670392017FXR1 regulates transcription and is required for growth of human cancer cells with TP53/FXR2 homozygous deletion.18
266128552015Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.29
266128552015Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.29
204422042010Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P.43
210721622010Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2.37
204422042010Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P.43
210721622010Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2.37
194873682009Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs.67

Citation

Dessen P

FXR2 (FMR1 autosomal homolog 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40651/favicon/hgnc