Human Gene RFX2 (ENST00000303657.10) from GENCODE V44
  Description: Homo sapiens regulatory factor X2 (RFX2), transcript variant 1, mRNA. (from RefSeq NM_000635)
RefSeq Summary (NM_000635): 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, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000303657.10
Gencode Gene: ENSG00000087903.13
Transcript (Including UTRs)
   Position: hg38 chr19:5,993,164-6,110,500 Size: 117,337 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg38 chr19:5,994,835-6,047,496 Size: 52,662 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:5,993,164-6,110,500)mRNA (may differ from genome)Protein (723 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RFX2_HUMAN
DESCRIPTION: RecName: Full=DNA-binding protein RFX2; AltName: Full=Regulatory factor X 2;
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Belongs to the RFX family.
SIMILARITY: Contains 1 RFX-type winged-helix DNA-binding domain.
SEQUENCE CAUTION: Sequence=BAG51286.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RFX2
Diseases sorted by gene-association score: spermatic cord torsion (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.56 RPKM in Testis
Total median expression: 199.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.90116-0.335 Picture PostScript Text
3' UTR -554.701671-0.332 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003150 - DNA-bd_RFX
IPR007668 - RFX1_trans_act
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF04589 - RFX1 transcription activation region
PF02257 - RFX DNA-binding domain

ModBase Predicted Comparative 3D Structure on P48378
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding

Biological Process:
GO:0001675 acrosome assembly
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007283 spermatogenesis
GO:0007286 spermatid development
GO:0030030 cell projection organization
GO:0030154 cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060271 cilium assembly
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC071571 - Homo sapiens regulatory factor X, 2 (influences HLA class II expression), mRNA (cDNA clone MGC:87156 IMAGE:5276369), complete cds.
AK024288 - Homo sapiens cDNA FLJ14226 fis, clone NT2RP3004078, highly similar to DNA-binding protein RFX2.
BX648130 - Homo sapiens mRNA; cDNA DKFZp686K2240 (from clone DKFZp686K2240).
BC028579 - Homo sapiens regulatory factor X, 2 (influences HLA class II expression), mRNA (cDNA clone MGC:26533 IMAGE:4829582), complete cds.
AK291196 - Homo sapiens cDNA FLJ77125 complete cds, highly similar to Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 2, mRNA.
AK303321 - Homo sapiens cDNA FLJ53376 complete cds, highly similar to DNA-binding protein RFX2.
X76091 - H.sapiens HRFX2 mRNA.
EU176246 - Synthetic construct Homo sapiens clone IMAGE:100006432; FLH183184.01X; RZPDo839D08250D regulatory factor X, 2 (influences HLA class II expression) (RFX2) gene, encodes complete protein.
KJ897465 - Synthetic construct Homo sapiens clone ccsbBroadEn_06859 RFX2 gene, encodes complete protein.
DQ895312 - Synthetic construct Homo sapiens clone IMAGE:100009772; FLH183177.01L; RZPDo839G11139D regulatory factor X, 2 (influences HLA class II expression) (RFX2) gene, encodes complete protein.
AB527680 - Synthetic construct DNA, clone: pF1KB6212, Homo sapiens RFX2 gene for regulatory factor X, 2, without stop codon, in Flexi system.
JD407962 - Sequence 388986 from Patent EP1572962.
JD037147 - Sequence 18171 from Patent EP1572962.
JD537918 - Sequence 518942 from Patent EP1572962.
JD470863 - Sequence 451887 from Patent EP1572962.
JD047807 - Sequence 28831 from Patent EP1572962.
JD205430 - Sequence 186454 from Patent EP1572962.
JD057608 - Sequence 38632 from Patent EP1572962.
JD141793 - Sequence 122817 from Patent EP1572962.
JD040017 - Sequence 21041 from Patent EP1572962.
JD140259 - Sequence 121283 from Patent EP1572962.
JD109197 - Sequence 90221 from Patent EP1572962.
JD493193 - Sequence 474217 from Patent EP1572962.
JD068255 - Sequence 49279 from Patent EP1572962.
JD236354 - Sequence 217378 from Patent EP1572962.
JD334301 - Sequence 315325 from Patent EP1572962.
JD073582 - Sequence 54606 from Patent EP1572962.
JD389741 - Sequence 370765 from Patent EP1572962.
JD422427 - Sequence 403451 from Patent EP1572962.
JD392803 - Sequence 373827 from Patent EP1572962.
JD158251 - Sequence 139275 from Patent EP1572962.
JD342996 - Sequence 324020 from Patent EP1572962.
JD045335 - Sequence 26359 from Patent EP1572962.
AK093977 - Homo sapiens cDNA FLJ36658 fis, clone UTERU2002011, highly similar to DNA BINDING PROTEIN RFX2.
JD480732 - Sequence 461756 from Patent EP1572962.
JD236844 - Sequence 217868 from Patent EP1572962.
AK302661 - Homo sapiens cDNA FLJ55813 complete cds, highly similar to DNA-binding protein RFX2.
JD543879 - Sequence 524903 from Patent EP1572962.
JD381673 - Sequence 362697 from Patent EP1572962.
JD195912 - Sequence 176936 from Patent EP1572962.
JD516318 - Sequence 497342 from Patent EP1572962.
JD093704 - Sequence 74728 from Patent EP1572962.
DQ589520 - Homo sapiens piRNA piR-56632, complete sequence.
AK093575 - Homo sapiens cDNA FLJ36256 fis, clone THYMU2002356, weakly similar to DNA BINDING PROTEIN RFX2.
AX748210 - Sequence 1735 from Patent EP1308459.
JD200356 - Sequence 181380 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K581, B3KNC4, ENST00000303657.1, ENST00000303657.2, ENST00000303657.3, ENST00000303657.4, ENST00000303657.5, ENST00000303657.6, ENST00000303657.7, ENST00000303657.8, ENST00000303657.9, NM_000635, P48378, Q6IQ44, Q8SNA2, RFX2_HUMAN, uc002meb.1, uc002meb.2, uc002meb.3, uc002meb.4, uc002meb.5
UCSC ID: ENST00000303657.10
RefSeq Accession: NM_000635
Protein: P48378 (aka RFX2_HUMAN)
CCDS: CCDS12157.1, CCDS12158.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.