RFX4 (regulatory factor X4)

Gene

• Entrez ID: 5992
• Gene name: Regulatory factor X4
• Gene symbol: RFX4
• Synonyms (NCBI Gene): NYD-SP10
• Chromosome: 12
• Chromosome location: 12q23.3
• 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, X2, X3, a

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1302415	hsa-miR-129-3p	CLIP-seq
MIRT1302416	hsa-miR-3907	CLIP-seq
MIRT1302417	hsa-miR-4687-5p	CLIP-seq
MIRT1302418	hsa-miR-548q	CLIP-seq
MIRT1302419	hsa-miR-665	CLIP-seq
MIRT1302420	hsa-miR-199a-3p	CLIP-seq
MIRT1302421	hsa-miR-199b-3p	CLIP-seq
MIRT1302422	hsa-miR-3129-5p	CLIP-seq
MIRT1302423	hsa-miR-421	CLIP-seq
MIRT1302424	hsa-miR-4539	CLIP-seq
MIRT1302425	hsa-miR-4709-5p	CLIP-seq
MIRT1302426	hsa-miR-4762-3p	CLIP-seq
MIRT1302427	hsa-miR-505	CLIP-seq
MIRT1302428	hsa-miR-561	CLIP-seq
MIRT1302429	hsa-miR-936	CLIP-seq
MIRT1302430	hsa-miR-101	CLIP-seq
MIRT1302431	hsa-miR-124	CLIP-seq
MIRT1302432	hsa-miR-144	CLIP-seq
MIRT1302433	hsa-miR-19a	CLIP-seq
MIRT1302434	hsa-miR-19b	CLIP-seq
MIRT1302435	hsa-miR-3117-5p	CLIP-seq
MIRT1302436	hsa-miR-4289	CLIP-seq
MIRT1302437	hsa-miR-4452	CLIP-seq
MIRT1302438	hsa-miR-4704-5p	CLIP-seq
MIRT1302439	hsa-miR-502-5p	CLIP-seq
MIRT1302440	hsa-miR-506	CLIP-seq
MIRT1302441	hsa-miR-548an	CLIP-seq
MIRT1302442	hsa-miR-628-5p	CLIP-seq
MIRT2089799	hsa-miR-4744	CLIP-seq
MIRT2314674	hsa-miR-132	CLIP-seq
MIRT2314675	hsa-miR-139-5p	CLIP-seq
MIRT2314676	hsa-miR-212	CLIP-seq
MIRT2314677	hsa-miR-3160-3p	CLIP-seq
MIRT1302431	hsa-miR-124	CLIP-seq
MIRT1302440	hsa-miR-506	CLIP-seq
MIRT1302441	hsa-miR-548an	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
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	16893423
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	IDA	16893423
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	22458338
GO:0005634	Component	Nucleus	IEA
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:0021537	Process	Telencephalon development	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16893423
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0070613	Process	Regulation of protein processing	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 603958
• HGNC: 9985
• e!Ensembl: ENSG00000111783

Protein

• UniProt ID: Q33E94
• Protein name: Transcription factor RFX4 (Regulatory factor X 4) (Testis development protein NYD-SP10)
• Protein function: Transcription factor that plays a role in early brain development. May activate transcription by interacting directly with the X-box. May activate transcription from CX3CL1 promoter through the X-box during brain development. May be required for
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02257	RFX_DNA_binding	58 → 136	RFX DNA-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1: Expressed in brain and gliomas (at protein level). Isoform 2: Testis-specific (at protein level). Isoform 3: Testis-specific (at protein level). Isoform 3: Expressed at a higher level in adult testes and ejaculated spermatoz
• Sequence:

  MHCGLLEEPDMDSTESWIERCLNESENKRYSSHTSLGNVSNDENEEKENNRASKPHSTPA
  TLQWLEENYEIAEGVCIPRSALYMHYLDFCEKNDTQPVNAASFGKIIRQQFPQLTTRRLG
  TRGQSKYHYYGIAVKESSQYYDVMYSKKGAAWVSETGKKEVSKQTVAYSPRSKLGTLLPE
  FPNVKDLNLPASLPEEKVSTFIMMYRTHCQRILDTVIRANFDEVQSFLLHFWQGMPPHML
  PVLGSSTVVNIVGVCDSILYKAISGVLMPTVLQALPDSLTQVIRKFAKQLDEWLKVALHD
  LPENLRNIKFELSRRFSQILRRQTSLNHLCQASRTVIHSADITFQMLEDWRNVDLNSITK
  QTLYTMEDSRDEHRKLITQLYQEFDHLLEEQSPIESYIEWLDTMVDRCVVKVAAKRQGSL
  KKVAQQFLLMWSCFGTRVIRDMTLHSAPSFGSFHLIHLMFDDYVLYLLESLHCQERANEL
  MRAMKGEGSTAEVREEIILTEAAAPTPSPVPSFSPAKSATSVEVPPPSSPVSNPSPEYTG
  LSTTGAMQSYTWSLTYTVTTAAGSPAENSQQLPCMRNTHVPSSSVTHRIPVYPHREEHGY
  TGSYNYGSYGNQHPHPMQSQYPALPHDTAISGPLHYAPYHRSSAQYPFNSPTSRMEPCLM
  SSTPRLHPTPVTPRWPEVPSANTCYTSPSVHSARYGNSSDMYTPLTTRRNSEYEHMQHFP
  GFAYINGEASTGWAK

• Sequence length: 735

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
RFX4-related disorder	Benign; Likely benign	rs201949313, rs55993073	RCV003892323 RCV003924576

Associations from Text Mining
Disease Name	Relationship Type	References
Attention Deficit Disorder with Hyperactivity	Associate	33658631
Autism Spectrum Disorder	Associate	33658631
Autistic Disorder	Associate	18378158
Bipolar Disorder	Associate	24393808
Brain Diseases	Associate	18378158
Breast Neoplasms	Associate	11682486
Disease	Associate	33658631
Glioma	Associate	16271074
Intellectual Disability	Associate	33658631
Narcolepsy	Associate	33837283
Narcolepsy 1	Associate	33837283
Sleep Wake Disorders	Associate	33658631
Stomach Neoplasms	Stimulate	36045400