RFX2 (regulatory factor X2)

Gene

• 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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
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	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001675	Process	Acrosome assembly	ISS
GO:0003677	Function	DNA binding	TAS	8289803
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 25609649, 28514442, 32296183
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0007286	Process	Spermatid development	ISS
GO:0060271	Process	Cilium assembly	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 142765
• HGNC: 9983
• e!Ensembl: ENSG00000087903

Protein

• UniProt ID: 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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243

Unknown
Disease term	Disease name	Evidence	References	Source
Cerebral palsy	cerebral palsy			GenCC
Alzheimer disease	Alzheimer disease			GWAS
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Azoospermia	Associate	34762273
Breast Neoplasms	Associate	37684436
Carcinoma Renal Cell	Associate	33761933
Cardiotoxicity	Stimulate	37684436
Diabetes Mellitus	Associate	36585034
Infertility Male	Associate	34762273
Neoplasms	Associate	33761933
Renal Insufficiency	Associate	36585034
Schizophrenia	Associate	25522406