Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5991
Gene name Gene Name - the full gene name approved by the HGNC.
Regulatory factor X3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RFX3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p24.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, a
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017663 hsa-miR-335-5p Microarray 18185580
MIRT019371 hsa-miR-148b-3p Microarray 17612493
MIRT021982 hsa-miR-128-3p Microarray 17612493
MIRT043701 hsa-miR-342-3p CLASH 23622248
MIRT039992 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 20413507
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 20148032
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601337 9984 ENSG00000080298
Protein
UniProt ID P48380
Protein name Transcription factor RFX3 (Regulatory factor X 3)
Protein function Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04589 RFX1_trans_act 14 138 RFX1 transcription activation region Family
PF02257 RFX_DNA_binding 181 258 RFX DNA-binding domain Domain
Sequence
MQTSETGSDTGSTVTLQTSVASQAAVPTQVVQQVPVQQQVQQVQTVQQVQHVYPAQVQYV
EGSDTVYTNGAIRTTTYPYTETQMYSQNTGGNYFDTQGSSAQVTTVVSSHSMVGTGGIQM
GVTGGQLISSSGGTYLIG
NSMENSGHSVTHTTRASPATIEMAIETLQKSDGLSTHRSSLL
NSHLQWLLDNYETAEGVSLPRSTLYNHYLRHCQEHKLDPVNAASFGKLIRSIFMGLRTRR
LGTRGNSKYHYYGIRVKP
DSPLNRLQEDMQYMAMRQQPMQQKQRYKPMQKVDGVADGFTG
SGQQTGTSVEQTVIAQSQHHQQFLDASRALPEFGEVEISSLPDGTTFEDIKSLQSLYREH
CEAILDVVVNLQFSLIEKLWQTFWRYSPSTPTDGTTITESSNLSEIESRLPKAKLITLCK
HESILKWMCNCDHGMYQALVEILIPDVLRPIPSALTQAIRNFAKSLEGWLSNAMNNIPQR
MIQTKVAAVSAFAQTLRRYTSLNHLAQAARAVLQNTSQINQMLSDLNRVDFANVQEQASW
VCQCDDNMVQRLETDFKMTLQQQSTLEQWAAWLDNVMMQALKPYEGRPSFPKAARQFLLK
WSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMFYLVEHRVAQATGETPIAVMGEFGDL
NAVSPGNLDKDEGSEVESEMDEELDDSSEPQAKREKTELSQAFPVGCMQPVLETGVQPSL
LNPIHSEHIVTSTQTIRQCSATGNTYTAV
Sequence length 749
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Autism Spectrum Disorder autism spectrum disorder GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Gout Gout GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Ataxia Associate 29740017
Attention Deficit Disorder with Hyperactivity Associate 33658631
Autism Spectrum Disorder Associate 33658631
Disease Associate 33658631
Epilepsies Myoclonic Associate 29740017
Gout Associate 25967671, 29879923
Hearing Loss Sensorineural Associate 29740017
Heart Diseases Associate 29740017
Inflammation Associate 25967671
Intellectual Disability Associate 33658631