Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5991
Gene name	Regulatory factor X3
Gene symbol	RFX3
Synonyms (NCBI Gene)	-
Chromosome	9
Chromosome location	9p24.2
Summary	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

Show/Hide all (49)

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
MIRT654271	hsa-miR-1264	HITS-CLIP	23824327
MIRT666595	hsa-miR-222-5p	HITS-CLIP	23824327
MIRT666594	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT666593	hsa-miR-6071	HITS-CLIP	23824327
MIRT666592	hsa-miR-3977	HITS-CLIP	23824327
MIRT666591	hsa-miR-544a	HITS-CLIP	23824327
MIRT666590	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT666589	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT654271	hsa-miR-1264	HITS-CLIP	23824327
MIRT441720	hsa-miR-3662	PAR-CLIP	22100165
MIRT441719	hsa-miR-3646	PAR-CLIP	22100165
MIRT441718	hsa-miR-4428	PAR-CLIP	22100165
MIRT441717	hsa-miR-892c-5p	PAR-CLIP	22100165
MIRT441716	hsa-miR-4698	PAR-CLIP	22100165
MIRT654271	hsa-miR-1264	HITS-CLIP	23824327
MIRT666595	hsa-miR-222-5p	HITS-CLIP	23824327
MIRT666594	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT666593	hsa-miR-6071	HITS-CLIP	23824327
MIRT666592	hsa-miR-3977	HITS-CLIP	23824327
MIRT666591	hsa-miR-544a	HITS-CLIP	23824327
MIRT666590	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT666589	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT654271	hsa-miR-1264	HITS-CLIP	23824327
MIRT441720	hsa-miR-3662	PAR-CLIP	22100165
MIRT441719	hsa-miR-3646	PAR-CLIP	22100165
MIRT441718	hsa-miR-4428	PAR-CLIP	22100165
MIRT441717	hsa-miR-892c-5p	PAR-CLIP	22100165
MIRT441716	hsa-miR-4698	PAR-CLIP	22100165
MIRT1302407	hsa-miR-1281	CLIP-seq
MIRT1302408	hsa-miR-1976	CLIP-seq
MIRT1302409	hsa-miR-410	CLIP-seq
MIRT1302410	hsa-miR-4640-3p	CLIP-seq
MIRT1302411	hsa-miR-4643	CLIP-seq
MIRT1302412	hsa-miR-466	CLIP-seq
MIRT1302413	hsa-miR-4789-3p	CLIP-seq
MIRT1302414	hsa-miR-511	CLIP-seq
MIRT2089794	hsa-miR-3155	CLIP-seq
MIRT2089795	hsa-miR-3155b	CLIP-seq
MIRT2089796	hsa-miR-4477a	CLIP-seq
MIRT2089797	hsa-miR-484	CLIP-seq
MIRT2089798	hsa-miR-513a-3p	CLIP-seq
MIRT2458088	hsa-miR-129-3p	CLIP-seq
MIRT2458089	hsa-miR-759	CLIP-seq
MIRT2610981	hsa-miR-4709-5p	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	20413507
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	20148032
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	TAS	8289803
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8600444
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS	20413507
GO:0003700	Function	DNA-binding transcription factor activity	NAS	8600444
GO:0005515	Function	Protein binding	IPI	16189514, 20148032, 21516116, 25416956, 29892012, 31515488, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IC	12411430
GO:0005634	Component	Nucleus	IDA	31429579
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8289803
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	ISS	20413507
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031018	Process	Endocrine pancreas development	IEA
GO:0031018	Process	Endocrine pancreas development	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12411430
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	20148032
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	20413507
GO:0048469	Process	Cell maturation	IEA
GO:0048469	Process	Cell maturation	ISS	20413507
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	ISS	20413507
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS	20413507
GO:0060285	Process	Cilium-dependent cell motility	IEA
GO:0060285	Process	Cilium-dependent cell motility	ISS
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	ISS
GO:0072560	Process	Type B pancreatic cell maturation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000078	Process	Positive regulation of type B pancreatic cell development	IEA
GO:2000078	Process	Positive regulation of type B pancreatic cell development	ISS	20413507

MIM	HGNC	e!Ensembl
601337	9984	ENSG00000080298

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
GVTGGQLISSSGGTYLIGNSMENSGHSVTHTTRASPATIEMAIETLQKSDGLSTHRSSLL
NSHLQWLLDNYETAEGVSLPRSTLYNHYLRHCQEHKLDPVNAASFGKLIRSIFMGLRTRR
LGTRGNSKYHYYGIRVKPDSPLNRLQEDMQYMAMRQQPMQQKQRYKPMQKVDGVADGFTG
SGQQTGTSVEQTVIAQSQHHQQFLDASRALPEFGEVEISSLPDGTTFEDIKSLQSLYREH
CEAILDVVVNLQFSLIEKLWQTFWRYSPSTPTDGTTITESSNLSEIESRLPKAKLITLCK
HESILKWMCNCDHGMYQALVEILIPDVLRPIPSALTQAIRNFAKSLEGWLSNAMNNIPQR
MIQTKVAAVSAFAQTLRRYTSLNHLAQAARAVLQNTSQINQMLSDLNRVDFANVQEQASW
VCQCDDNMVQRLETDFKMTLQQQSTLEQWAAWLDNVMMQALKPYEGRPSFPKAARQFLLK
WSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMFYLVEHRVAQATGETPIAVMGEFGDL
NAVSPGNLDKDEGSEVESEMDEELDDSSEPQAKREKTELSQAFPVGCMQPVLETGVQPSL
LNPIHSEHIVTSTQTIRQCSATGNTYTAV

Sequence length

749

Interactions

View interactions

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental disorder	Likely pathogenic	rs2489274630	RCV003127293
Neurodevelopmental disorder	Likely pathogenic	rs2131116061	RCV001375031
RFX3-associated neurodevelopmental disorder	Pathogenic	rs2489070185	RCV002294580
RFX3-related disorder	Likely pathogenic	rs2489684511	RCV003391393

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Attention deficit hyperactivity disorder	Uncertain significance	rs2130076904	RCV001376701
Autism spectrum disorder	Uncertain significance	rs2489192524	RCV003128000
Clear cell carcinoma of kidney	Likely benign	rs142365736	RCV005903675
Colon adenocarcinoma	Likely benign	rs142365736	RCV005903674
Ovarian serous cystadenocarcinoma	Likely benign	rs142365736	RCV005903676
RFX3-related intellectual disability	Uncertain significance	rs1563821906	RCV005254052

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	31237926
MERRF Syndrome	Associate	29740017
Sleep Initiation and Maintenance Disorders	Associate	29520036
Sleep Wake Disorders	Associate	33658631
Stomach Neoplasms	Stimulate	36045400

RFX3 (regulatory factor X3)