RBFOX2 (RNA binding fox-1 homolog 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23543
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding fox-1 homolog 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBFOX2
Synonyms (NCBI Gene) Gene synonyms aliases
FOX2, Fox-2, HNRBP2, HRNBP2, RBM9, RTA, dJ106I20.3, fxh
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a co
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1555902810 ->A Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1526)
miRTarBase ID miRNA Experiments Reference
MIRT007148 hsa-miR-320d Luciferase reporter assay 23418466
MIRT007148 hsa-miR-320d Luciferase reporter assay 23418466
MIRT007149 hsa-miR-498 Luciferase reporter assay 23418466
MIRT007149 hsa-miR-498 Luciferase reporter assay 23418466
MIRT021475 hsa-miR-9-5p Microarray 17612493
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome ISS
GO:0003714 Function Transcription corepressor activity IDA 11875103
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IDA 11875103
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612149 9906 ENSG00000100320
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O43251
Protein name RNA binding protein fox-1 homolog 2 (Fox-1 homolog B) (Hexaribonucleotide-binding protein 2) (RNA-binding motif protein 9) (RNA-binding protein 9) (Repressor of tamoxifen transcriptional activity)
Protein function RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Prevents binding of U2AF2 to the 3'-splice site. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons dur
PDB 2CQ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 123 → 191 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF12414 Fox-1_C 265 → 362 Calcitonin gene-related peptide regulator C terminal Family
Sequence 
MQNEPLTPGYHGFPARDSQGNQEPTTTPDAMVQPFTTIPFPPPPQNGIPTEYGVPHTQDY
AGQTGEHNLTLYGSTQAHGEQSSNSPSTQNGSLTTEGGAQTDGQQSQTQSSENSESKSTP
KRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKL
HGTVVEGRKIEVNNATARVMTNKKMVTPYANGWKLSPVVGAVYGPELYAASSFQADVSLG
NDAAVPLSGRGGINTYIPLISLPLVPGFPYPTAATTAAAFRGAHLRGRGRTVYGAVRAVP
PTAIPAYPGVVYQDGFYGADLYGGYAAYRYAQPATATAATAAAAAAAAYSDGYGRVYTAD
PYHALAPAASYGVGAVASLYRGGYSRFAPY
Sequence length 390
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    FGFR2 alternative splicing
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 16762588
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 27211866, 25205790, 27485310, 26785492, 16260614, 25753418
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Congenital heart defects congenital heart defects, multiple types GenCC
Dementia Dementia GWAS
Alzheimer disease Alzheimer disease GWAS
Show/Hide Text Mining Associations (33)
Associations from Text Mining
Disease Name Relationship Type References
Acute Retroviral Syndrome Associate 19567509
Breast Neoplasms Associate 25913416, 27911856
Carcinogenesis Associate 27993616, 34180133
Carcinoma Hepatocellular Associate 32525024
Colorectal Neoplasms Associate 18691435
Esophageal Neoplasms Associate 36466711
Heart Defects Congenital Associate 26785492, 27670201, 37165897
Hereditary Breast and Ovarian Cancer Syndrome Associate 21118496
Heredodegenerative Disorders Nervous System Associate 32589925
Hypoplastic Left Heart Syndrome Associate 27485310