RFX4 - regulatory factor X4 Gene

Homo sapiens

Also known as NYD-SP10

Gene ID: 5992 | Gene type: protein coding

About RFX4

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:106,583,004-106,762,803 (from NCBI)

This gene has 12 transcripts (splice variants), 204 orthologues and 7 paralogues. Restricted expression toward testis (RPKM 40.0).

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, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

RFX4 Products(3)

mRNA	Protein	Name
NM_001206691.2	NP_001193620.1	transcription factor RFX4 isoform d
NM_032491.6	NP_115880.2	transcription factor RFX4 isoform a
NM_213594.3	NP_998759.1	transcription factor RFX4 isoform c

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	16893423	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16893423	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22458338	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16893423	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RFX4 Protein Structure

RFX_DNA_binding

0
200
400
600
735 a.a.

Protein Preferred Names

Protein Names

transcription factor RFX4

regulatory factor X, 4 (influences HLA class II expression)

RFX4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	RFX4	Q33E94	tax	Human T-cell leukemia virus 1	P14079	Y2H Array	22458338

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Joubert Syndrome 16

JBTS16

Joubert Syndrome, Type 16

Melanotic Medulloblastoma

Medulloblastoma, Melanotic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11882	RFX4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RFX4	VGNC	VGNC:69306
Macaca mulatta	RFX4	VGNC	VGNC:76909
Bos taurus	RFX4	VGNC	VGNC:33896
Mus musculus	RFX4	MGD	MGI:1918387
Canis familiaris	RFX4	VGNC	VGNC:45506
Rattus norvegicus	RFX4	RGD	RGD:1562092

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