GediPNet logo

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 nameGene Name - the full gene name approved by the HGNC.
RNA binding fox-1 homolog 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RBFOX2
SynonymsGene synonyms aliases
FOX2, Fox-2, HNRBP2, HRNBP2, RBM9, RTA, dJ106I20.3, fxh
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs1555902810 ->A Pathogenic Coding sequence variant, frameshift variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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 IDsOther 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    FGFR2 alternative splicing
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 16762588
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 27211866, 25205790, 27485310, 26785492, 16260614, 25753418
Unknown
Disease name Disease term dbSNP ID References
Dyslexia Dyslexia 25065397
Dysmorphic features Dysmorphic features 27211866, 25753418, 26785492, 25205790, 27485310, 16260614
Movement disorders Movement Disorders 27211866, 27485310, 16260614, 25205790, 26785492, 25753418
Salivary gland neoplasm Salivary Gland Neoplasms 16762588

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412