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	5990
Gene name	Regulatory factor X2
Gene symbol	RFX2
Synonyms (NCBI Gene)	-
Chromosome	19
Chromosome location	19p13.3
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, X3, X4, a

Show/Hide all (96)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018999	hsa-miR-335-5p	Microarray	18185580
MIRT023118	hsa-miR-124-3p	Microarray	18668037
MIRT489954	hsa-miR-3150a-5p	PAR-CLIP	23592263
MIRT489953	hsa-miR-3150b-5p	PAR-CLIP	23592263
MIRT489952	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT489951	hsa-miR-3131	PAR-CLIP	23592263
MIRT489950	hsa-miR-611	PAR-CLIP	23592263
MIRT489949	hsa-miR-151a-5p	PAR-CLIP	23592263
MIRT489948	hsa-miR-151b	PAR-CLIP	23592263
MIRT739017	hsa-miR-4731-5p	HITS-CLIP	33718276
MIRT739020	hsa-miR-4648	HITS-CLIP	33718276
MIRT489954	hsa-miR-3150a-5p	PAR-CLIP	23592263
MIRT489953	hsa-miR-3150b-5p	PAR-CLIP	23592263
MIRT489952	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT489951	hsa-miR-3131	PAR-CLIP	23592263
MIRT489950	hsa-miR-611	PAR-CLIP	23592263
MIRT489949	hsa-miR-151a-5p	PAR-CLIP	23592263
MIRT489948	hsa-miR-151b	PAR-CLIP	23592263
MIRT1302362	hsa-miR-3160-5p	CLIP-seq
MIRT1302363	hsa-miR-3165	CLIP-seq
MIRT739019	hsa-miR-3199	CLIP-seq
MIRT1302364	hsa-miR-3667-3p	CLIP-seq
MIRT1302365	hsa-miR-3692	CLIP-seq
MIRT1302366	hsa-miR-3915	CLIP-seq
MIRT1302367	hsa-miR-3928	CLIP-seq
MIRT1302368	hsa-miR-409-5p	CLIP-seq
MIRT1302369	hsa-miR-4433	CLIP-seq
MIRT1302370	hsa-miR-4520a-3p	CLIP-seq
MIRT1302371	hsa-miR-4520b-3p	CLIP-seq
MIRT1302372	hsa-miR-4670-3p	CLIP-seq
MIRT1302373	hsa-miR-4676-5p	CLIP-seq
MIRT1302374	hsa-miR-4735-5p	CLIP-seq
MIRT1302375	hsa-miR-4762-3p	CLIP-seq
MIRT1302376	hsa-miR-575	CLIP-seq
MIRT1302377	hsa-miR-604	CLIP-seq
MIRT1302378	hsa-miR-647	CLIP-seq
MIRT1302379	hsa-miR-665	CLIP-seq
MIRT739018	hsa-miR-720	CLIP-seq
MIRT1302380	hsa-miR-1207-3p	CLIP-seq
MIRT1302381	hsa-miR-1207-5p	CLIP-seq
MIRT1302382	hsa-miR-1321	CLIP-seq
MIRT1302383	hsa-miR-1470	CLIP-seq
MIRT1302384	hsa-miR-151-5p	CLIP-seq
MIRT1302385	hsa-miR-188-3p	CLIP-seq
MIRT1302386	hsa-miR-198	CLIP-seq
MIRT1302387	hsa-miR-2355-3p	CLIP-seq
MIRT1302388	hsa-miR-3127-5p	CLIP-seq
MIRT1302389	hsa-miR-3158-3p	CLIP-seq
MIRT1302390	hsa-miR-3195	CLIP-seq
MIRT1302391	hsa-miR-3197	CLIP-seq
MIRT1302392	hsa-miR-3907	CLIP-seq
MIRT1302366	hsa-miR-3915	CLIP-seq
MIRT1302393	hsa-miR-3918	CLIP-seq
MIRT1302367	hsa-miR-3928	CLIP-seq
MIRT1302368	hsa-miR-409-5p	CLIP-seq
MIRT1302394	hsa-miR-4270	CLIP-seq
MIRT1302395	hsa-miR-4302	CLIP-seq
MIRT1302369	hsa-miR-4433	CLIP-seq
MIRT1302396	hsa-miR-4441	CLIP-seq
MIRT1302397	hsa-miR-4508	CLIP-seq
MIRT1302398	hsa-miR-4646-3p	CLIP-seq
MIRT1302399	hsa-miR-4667-3p	CLIP-seq
MIRT1302400	hsa-miR-4717-3p	CLIP-seq
MIRT1302401	hsa-miR-4739	CLIP-seq
MIRT1302402	hsa-miR-4756-5p	CLIP-seq
MIRT1302403	hsa-miR-4763-3p	CLIP-seq
MIRT1302404	hsa-miR-4779	CLIP-seq
MIRT1302405	hsa-miR-4782-5p	CLIP-seq
MIRT1302406	hsa-miR-532-3p	CLIP-seq
MIRT1302379	hsa-miR-665	CLIP-seq
MIRT2089783	hsa-miR-1237	CLIP-seq
MIRT2089784	hsa-miR-1248	CLIP-seq
MIRT1302384	hsa-miR-151-5p	CLIP-seq
MIRT2089785	hsa-miR-3065-5p	CLIP-seq
MIRT2089786	hsa-miR-3124-3p	CLIP-seq
MIRT1302362	hsa-miR-3160-5p	CLIP-seq
MIRT1302390	hsa-miR-3195	CLIP-seq
MIRT1302391	hsa-miR-3197	CLIP-seq
MIRT2089787	hsa-miR-421	CLIP-seq
MIRT2089788	hsa-miR-4276	CLIP-seq
MIRT1302395	hsa-miR-4302	CLIP-seq
MIRT2089789	hsa-miR-4428	CLIP-seq
MIRT2089790	hsa-miR-4635	CLIP-seq
MIRT1302373	hsa-miR-4676-5p	CLIP-seq
MIRT2089791	hsa-miR-4677-3p	CLIP-seq
MIRT2089792	hsa-miR-515-5p	CLIP-seq
MIRT2089793	hsa-miR-526b	CLIP-seq
MIRT1302376	hsa-miR-575	CLIP-seq
MIRT1302366	hsa-miR-3915	CLIP-seq
MIRT1302367	hsa-miR-3928	CLIP-seq
MIRT1302368	hsa-miR-409-5p	CLIP-seq
MIRT1302369	hsa-miR-4433	CLIP-seq
MIRT1302379	hsa-miR-665	CLIP-seq
MIRT1302363	hsa-miR-3165	CLIP-seq
MIRT1302395	hsa-miR-4302	CLIP-seq
MIRT1302374	hsa-miR-4735-5p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001675	Process	Acrosome assembly	IEA
GO:0001675	Process	Acrosome assembly	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8289803
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 25609649, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
142765	9983	ENSG00000087903

P48378

Protein name

DNA-binding protein RFX2 (Regulatory factor X 2)

Protein function

Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (By similarity). Recognize

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04589	RFX1_trans_act	4 → 154	RFX1 transcription activation region	Family
PF02257	RFX_DNA_binding	197 → 274	RFX DNA-binding domain	Domain

Sequence

MQNSEGGADSPASVALRPSAAAPPVPASPQRVLVQAASSNPKGAQMQPISLPRVQQVPQQ
VQPVQHVYPAQVQYVEGGDAVYTNGAIRTAYTYNPEPQMYAPSSTASYFEAPGGAQVTVA
ASSPPAVPSHSMVGITMDVGGSPIVSSAGAYLIHGGMDSTRHSLAHTSRSSPATLEMAIE
NLQKSEGITSHKSGLLNSHLQWLLDNYETAEGVSLPRSSLYNHYLRHCQEHKLDPVNAAS
FGKLIRSVFMGLRTRRLGTRGNSKYHYYGIRLKPDSPLNRLQEDTQYMAMRQQPMHQKPR
YRPAQKTDSLGDSGSHSGLHSTPEQTMAVQSQHHQQYIDVSHVFPEFPAPDLGSFLLQDG
VTLHDVKALQLVYRRHCEATVDVVMNLQFHYIEKLWLSFWNSKASSSDGPTSLPASDEDP
EGAVLPKDKLISLCQCDPILRWMRSCDHILYQALVEILIPDVLRPVPSTLTQAIRNFAKS
LEGWLTNAMSDFPQQVIQTKVGVVSAFAQTLRRYTSLNHLAQAARAVLQNTSQINQMLSD
LNRVDFANVQEQASWVCQCEESVVQRLEQDFKLTLQQQSSLDQWASWLDSVVTQVLKQHA
GSPSFPKAARQFLLKWSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMFYLVEHRVAEA
TGETPIAVMGEFNDLASLSLTLLDKDDMGDEQRGSEAGPDARSLGEPLVKRERSDPNHSL
QGI

Sequence length

723

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL PALSY	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RFX2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth agenesis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia	Azoospermia	Pubtator	34762273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37684436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33761933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	25666757		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	36585034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	34762273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25798919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25798919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	25522406	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RFX2 (regulatory factor X2)