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Protein

DNA-binding protein RFX2

Gene

RFX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters (PubMed:10330134). Probably activates transcription of the testis-specific histone gene HIST1H1T (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi199 – 274RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST76

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Differentiation, Spermatogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000087903-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-binding protein RFX2
Alternative name(s):
Regulatory factor X 2
Gene namesi
Name:RFX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:9983. RFX2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotationBy similarity
  • Cytoplasm By similarity

  • Note: Mainly expressed in the nucleus and at lower level in cytoplasm.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi5990.
OpenTargetsiENSG00000087903.
PharmGKBiPA34353.

Polymorphism and mutation databases

BioMutaiRFX2.
DMDMi254763325.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002152881 – 723DNA-binding protein RFX2Add BLAST723

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei28PhosphoserineCombined sources1
Modified residuei416PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP48378.
MaxQBiP48378.
PaxDbiP48378.
PeptideAtlasiP48378.
PRIDEiP48378.

PTM databases

iPTMnetiP48378.
PhosphoSitePlusiP48378.

Expressioni

Gene expression databases

BgeeiENSG00000087903.
CleanExiHS_RFX2.
ExpressionAtlasiP48378. baseline and differential.
GenevisibleiP48378. HS.

Organism-specific databases

HPAiHPA048969.

Interactioni

Subunit structurei

Homodimer; probably only forms homodimers in testis (By similarity). Heterodimer; heterodimerizes with RFX1 and RFX3 (PubMed:10330134).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
FOXJ1Q929493EBI-746731,EBI-1760377
RFX6Q8HWS33EBI-746731,EBI-746118

Protein-protein interaction databases

BioGridi111922. 9 interactors.
IntActiP48378. 5 interactors.
MINTiMINT-3016688.
STRINGi9606.ENSP00000306335.

Structurei

3D structure databases

ProteinModelPortaliP48378.
SMRiP48378.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation
Contains 1 RFX-type winged-helix DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3712. Eukaryota.
ENOG410XSHE. LUCA.
GeneTreeiENSGT00550000074532.
HOGENOMiHOG000294091.
HOVERGENiHBG002753.
InParanoidiP48378.
KOiK09173.
OMAiEAQIYAP.
OrthoDBiEOG091G0EID.
PhylomeDBiP48378.
TreeFamiTF321340.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR003150. DNA-bd_RFX.
IPR007668. RFX1_trans_act.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF04589. RFX1_trans_act. 1 hit.
PF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS51526. RFX_DBD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P48378-1) [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 PASVALRPSA AAPPVPASPQ RVLVQAASSN PKGAQMQPIS
60 70 80 90 100
LPRVQQVPQQ VQPVQHVYPA QVQYVEGGDA VYTNGAIRTA YTYNPEPQMY
110 120 130 140 150
APSSTASYFE APGGAQVTVA ASSPPAVPSH SMVGITMDVG GSPIVSSAGA
160 170 180 190 200
YLIHGGMDST RHSLAHTSRS SPATLEMAIE NLQKSEGITS HKSGLLNSHL
210 220 230 240 250
QWLLDNYETA EGVSLPRSSL YNHYLRHCQE HKLDPVNAAS FGKLIRSVFM
260 270 280 290 300
GLRTRRLGTR GNSKYHYYGI RLKPDSPLNR LQEDTQYMAM RQQPMHQKPR
310 320 330 340 350
YRPAQKTDSL GDSGSHSGLH STPEQTMAVQ SQHHQQYIDV SHVFPEFPAP
360 370 380 390 400
DLGSFLLQDG VTLHDVKALQ LVYRRHCEAT VDVVMNLQFH YIEKLWLSFW
410 420 430 440 450
NSKASSSDGP TSLPASDEDP EGAVLPKDKL ISLCQCDPIL RWMRSCDHIL
460 470 480 490 500
YQALVEILIP DVLRPVPSTL TQAIRNFAKS LEGWLTNAMS DFPQQVIQTK
510 520 530 540 550
VGVVSAFAQT LRRYTSLNHL AQAARAVLQN TSQINQMLSD LNRVDFANVQ
560 570 580 590 600
EQASWVCQCE ESVVQRLEQD FKLTLQQQSS LDQWASWLDS VVTQVLKQHA
610 620 630 640 650
GSPSFPKAAR QFLLKWSFYS SMVIRDLTLR SAASFGSFHL IRLLYDEYMF
660 670 680 690 700
YLVEHRVAEA TGETPIAVMG EFNDLASLSL TLLDKDDMGD EQRGSEAGPD
710 720
ARSLGEPLVK RERSDPNHSL QGI
Length:723
Mass (Da):79,987
Last modified:July 28, 2009 - v2
Checksum:i0F299954977A9218
GO
Isoform 2 (identifier: P48378-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     175-199: Missing.

Show »
Length:698
Mass (Da):77,268
Checksum:i7057BC57EFE6882E
GO

Sequence cautioni

The sequence BAG51286 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti44A → S in CAA53705 (PubMed:8289803).Curated1
Sequence conflicti170S → P in BAF83885 (PubMed:14702039).Curated1
Sequence conflicti216P → H in AAH71571 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03653037A → G in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_05715186A → T.2 PublicationsCorresponds to variant rs2288846dbSNPEnsembl.1
Natural variantiVAR_036531110E → K in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs748493309dbSNPEnsembl.1
Natural variantiVAR_058416610R → Q.1 PublicationCorresponds to variant rs17852566dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037811175 – 199Missing in isoform 2. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X76091 mRNA. Translation: CAA53705.1.
AK024288 mRNA. Translation: BAG51286.1. Different initiation.
AK291196 mRNA. Translation: BAF83885.1.
AC011444 Genomic DNA. No translation available.
BC028579 mRNA. Translation: AAH28579.1.
BC071571 mRNA. Translation: AAH71571.1.
CCDSiCCDS12157.1. [P48378-1]
CCDS12158.1. [P48378-2]
PIRiB55926.
RefSeqiNP_000626.2. NM_000635.3. [P48378-1]
NP_602309.1. NM_134433.2. [P48378-2]
XP_011526473.1. XM_011528171.2. [P48378-1]
UniGeneiHs.465709.

Genome annotation databases

EnsembliENST00000303657; ENSP00000306335; ENSG00000087903. [P48378-1]
ENST00000359161; ENSP00000352076; ENSG00000087903. [P48378-1]
ENST00000592546; ENSP00000467166; ENSG00000087903. [P48378-2]
GeneIDi5990.
KEGGihsa:5990.
UCSCiuc002meb.4. human. [P48378-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X76091 mRNA. Translation: CAA53705.1.
AK024288 mRNA. Translation: BAG51286.1. Different initiation.
AK291196 mRNA. Translation: BAF83885.1.
AC011444 Genomic DNA. No translation available.
BC028579 mRNA. Translation: AAH28579.1.
BC071571 mRNA. Translation: AAH71571.1.
CCDSiCCDS12157.1. [P48378-1]
CCDS12158.1. [P48378-2]
PIRiB55926.
RefSeqiNP_000626.2. NM_000635.3. [P48378-1]
NP_602309.1. NM_134433.2. [P48378-2]
XP_011526473.1. XM_011528171.2. [P48378-1]
UniGeneiHs.465709.

3D structure databases

ProteinModelPortaliP48378.
SMRiP48378.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111922. 9 interactors.
IntActiP48378. 5 interactors.
MINTiMINT-3016688.
STRINGi9606.ENSP00000306335.

PTM databases

iPTMnetiP48378.
PhosphoSitePlusiP48378.

Polymorphism and mutation databases

BioMutaiRFX2.
DMDMi254763325.

Proteomic databases

EPDiP48378.
MaxQBiP48378.
PaxDbiP48378.
PeptideAtlasiP48378.
PRIDEiP48378.

Protocols and materials databases

DNASUi5990.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303657; ENSP00000306335; ENSG00000087903. [P48378-1]
ENST00000359161; ENSP00000352076; ENSG00000087903. [P48378-1]
ENST00000592546; ENSP00000467166; ENSG00000087903. [P48378-2]
GeneIDi5990.
KEGGihsa:5990.
UCSCiuc002meb.4. human. [P48378-1]

Organism-specific databases

CTDi5990.
DisGeNETi5990.
GeneCardsiRFX2.
H-InvDBHIX0014689.
HGNCiHGNC:9983. RFX2.
HPAiHPA048969.
MIMi142765. gene.
neXtProtiNX_P48378.
OpenTargetsiENSG00000087903.
PharmGKBiPA34353.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3712. Eukaryota.
ENOG410XSHE. LUCA.
GeneTreeiENSGT00550000074532.
HOGENOMiHOG000294091.
HOVERGENiHBG002753.
InParanoidiP48378.
KOiK09173.
OMAiEAQIYAP.
OrthoDBiEOG091G0EID.
PhylomeDBiP48378.
TreeFamiTF321340.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000087903-MONOMER.

Miscellaneous databases

ChiTaRSiRFX2. human.
GeneWikiiRFX2.
GenomeRNAii5990.
PROiP48378.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000087903.
CleanExiHS_RFX2.
ExpressionAtlasiP48378. baseline and differential.
GenevisibleiP48378. HS.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR003150. DNA-bd_RFX.
IPR007668. RFX1_trans_act.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF04589. RFX1_trans_act. 1 hit.
PF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS51526. RFX_DBD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRFX2_HUMAN
AccessioniPrimary (citable) accession number: P48378
Secondary accession number(s): A8K581
, B3KNC4, Q6IQ44, Q8SNA2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 28, 2009
Last modified: November 30, 2016
This is version 135 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.