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Protein

DNA-binding protein RFX2

Gene

Rfx2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcription factor that acts as a key regulator of spermatogenesis (PubMed:26248850, PubMed:26162102, PubMed:26853561). Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (PubMed:26162102, PubMed:26853561). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters (PubMed:15229132, PubMed:26162102). Probably activates transcription of the testis-specific histone gene HIST1H1T (PubMed:15229132).4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi194 – 269RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST76

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processCilium biogenesis/degradation, Differentiation, Spermatogenesis, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-binding protein RFX2
Alternative name(s):
Regulatory factor X 2
Gene namesi
Name:Rfx2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 17

Organism-specific databases

MGIiMGI:106583 Rfx2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Disruption phenotypei

Mice are perfectly viable but show complete male sterility (PubMed:26248850, PubMed:26162102, PubMed:26853561). Spermatogenesis proceeds normally through meiosis. However, haploid cells undergo a complete arrest in spermatid development before spermatid elongation (PubMed:26248850, PubMed:26162102). Arrested cells show altered Golgi apparatus organization, leading to a deficit in the generation of a spreading acrosomal cap from proacrosomal vesicles and merge to form giant multinucleated cells released to the epididymis. Spermatids also completely fail to form the flagellar axoneme (PubMed:26162102).3 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002152891 – 717DNA-binding protein RFX2Add BLAST717

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei26PhosphoserineBy similarity1
Modified residuei411PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP48379
PaxDbiP48379
PeptideAtlasiP48379
PRIDEiP48379

PTM databases

iPTMnetiP48379
PhosphoSitePlusiP48379
SwissPalmiP48379

Expressioni

Developmental stagei

Detected in the anterior primitive streak preceding the morphological appearance of the node at embryonic day 7.0 (E7.0). Expressed in the node and in the midline notochordal plate cells extending anteriorly from the node at E7.5. At E8.5, expressed in the node now located in the tail region. At E9.5, detected in the floor plate and in the dorsal portion of the neural tube, with highest expression in the anterior portion of the spinal cord. Also expressed in the developing gut. At E10.5, also observed in the telencephalon region of the brain and in the anterior portion of the limb bud at E12.5 (PubMed:26248850). Localizes to cells at the posterior margin of the ciliated organ of asymmetry (PubMed:22233545).2 Publications

Gene expression databases

BgeeiENSMUSG00000024206 Expressed in 128 organ(s), highest expression level in testis
GenevisibleiP48379 MM

Interactioni

Subunit structurei

Homodimer; probably only forms homodimers in testis (PubMed:15229132). Heterodimer; heterodimerizes with RFX1 and RFX3 (PubMed:15229132).1 Publication

Protein-protein interaction databases

BioGridi202873, 4 interactors
IntActiP48379, 2 interactors
STRINGi10090.ENSMUSP00000002444

Structurei

3D structure databases

ProteinModelPortaliP48379
SMRiP48379
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3712 Eukaryota
ENOG410XSHE LUCA
GeneTreeiENSGT00550000074532
HOGENOMiHOG000294091
HOVERGENiHBG002753
InParanoidiP48379
KOiK09173
OMAiYIEKLWQ
OrthoDBiEOG091G0EID
PhylomeDBiP48379
TreeFamiTF321340

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR003150 DNA-bd_RFX
IPR039779 RFX-like
IPR007668 RFX1_trans_act
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR12619 PTHR12619, 1 hit
PfamiView protein in Pfam
PF04589 RFX1_trans_act, 1 hit
PF02257 RFX_DNA_binding, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS51526 RFX_DBD, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P48379-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQNSEGGADS PASVALRPAA QPMPASPQRV LVQAAGSTPK GTPMQTLTLP
60 70 80 90 100
RVQPVPPQVQ HVYPAQVQYV EGGDAVYANG AIRAAYAYNP DPQLYAPSSA
110 120 130 140 150
ASYFETPGGT QVTVAASSPP AVPSHGMVGI TMDVSGTPIV SGAGAYLIHG
160 170 180 190 200
GMDGTRHSLA HTARSSPATL EMAIETLQKS EGLAPHKGGL LNSHLQWLLD
210 220 230 240 250
NYETAEGVSL PRSSLYNHYL RHCQEHKLEP VNAASFGKLI RSVFMGLRTR
260 270 280 290 300
RLGTRGNSKY HYYGIRLKPD SPLNRLQEDT QYMAMRQQPT HQKPRYRPAQ
310 320 330 340 350
KSDSLGDGSA HSNMHGMPDQ AMATQGQHHQ QYIDVSHVFP EFPAPDLGST
360 370 380 390 400
LLQESVTLHD VKALQLVYRR HCEATLDVVM NLQFQYIEKL WLSFWNCKAT
410 420 430 440 450
SSDSCASLPA SDEDPEVTLL PKEKLISLCK CEPILQWMRS CDHILYQTLV
460 470 480 490 500
ETLIPDVLRP VPSSLTQAIR NFAKSLEGWL INAMSGFPQQ VIQTKVGVVS
510 520 530 540 550
AFAQTLRRYT SLNHLAQAAR AVLQNTSQIN QMLSDLNRVD FANVQEQASW
560 570 580 590 600
VCQCEESLVQ RLEHDFKVTL QQQSSLDQWA SWLDNVVTQV LKQHSGSPSF
610 620 630 640 650
PKAARQFLLK WSFYSSMVIR DLTLRSAASF GSFHLIRLLY DEYMFYLVEH
660 670 680 690 700
RVAQATGETP IAVMGEFNDL ASLSLTLLDK EDIGDGHSSE ADVDGRSLGE
710
PLVKRERSDP SHPLQGI
Length:717
Mass (Da):79,190
Last modified:July 28, 2009 - v2
Checksum:i3A0EBF008ECD8B61
GO
Isoform 2 (identifier: P48379-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     170-194: Missing.

Show »
Length:692
Mass (Da):76,534
Checksum:iE4A187A90CD88F81
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037812170 – 194Missing in isoform 2. 2 PublicationsAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X76089 mRNA Translation: CAA53703.1
AK044439 mRNA Translation: BAC31919.1
BC004654 mRNA Translation: AAH04654.1
CCDSiCCDS28915.1 [P48379-2]
CCDS50156.1 [P48379-1]
PIRiC55926
RefSeqiNP_033082.1, NM_009056.2 [P48379-2]
NP_082063.1, NM_027787.1 [P48379-1]
UniGeneiMm.102

Genome annotation databases

EnsembliENSMUST00000002444; ENSMUSP00000002444; ENSMUSG00000024206 [P48379-1]
ENSMUST00000086801; ENSMUSP00000084010; ENSMUSG00000024206 [P48379-2]
GeneIDi19725
KEGGimmu:19725
UCSCiuc008ddf.2 mouse [P48379-2]
uc008ddg.2 mouse [P48379-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X76089 mRNA Translation: CAA53703.1
AK044439 mRNA Translation: BAC31919.1
BC004654 mRNA Translation: AAH04654.1
CCDSiCCDS28915.1 [P48379-2]
CCDS50156.1 [P48379-1]
PIRiC55926
RefSeqiNP_033082.1, NM_009056.2 [P48379-2]
NP_082063.1, NM_027787.1 [P48379-1]
UniGeneiMm.102

3D structure databases

ProteinModelPortaliP48379
SMRiP48379
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi202873, 4 interactors
IntActiP48379, 2 interactors
STRINGi10090.ENSMUSP00000002444

PTM databases

iPTMnetiP48379
PhosphoSitePlusiP48379
SwissPalmiP48379

Proteomic databases

MaxQBiP48379
PaxDbiP48379
PeptideAtlasiP48379
PRIDEiP48379

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000002444; ENSMUSP00000002444; ENSMUSG00000024206 [P48379-1]
ENSMUST00000086801; ENSMUSP00000084010; ENSMUSG00000024206 [P48379-2]
GeneIDi19725
KEGGimmu:19725
UCSCiuc008ddf.2 mouse [P48379-2]
uc008ddg.2 mouse [P48379-1]

Organism-specific databases

CTDi5990
MGIiMGI:106583 Rfx2

Phylogenomic databases

eggNOGiKOG3712 Eukaryota
ENOG410XSHE LUCA
GeneTreeiENSGT00550000074532
HOGENOMiHOG000294091
HOVERGENiHBG002753
InParanoidiP48379
KOiK09173
OMAiYIEKLWQ
OrthoDBiEOG091G0EID
PhylomeDBiP48379
TreeFamiTF321340

Miscellaneous databases

PROiPR:P48379
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000024206 Expressed in 128 organ(s), highest expression level in testis
GenevisibleiP48379 MM

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR003150 DNA-bd_RFX
IPR039779 RFX-like
IPR007668 RFX1_trans_act
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR12619 PTHR12619, 1 hit
PfamiView protein in Pfam
PF04589 RFX1_trans_act, 1 hit
PF02257 RFX_DNA_binding, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS51526 RFX_DBD, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRFX2_MOUSE
AccessioniPrimary (citable) accession number: P48379
Secondary accession number(s): Q8BXR3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 28, 2009
Last modified: November 7, 2018
This is version 132 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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