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UniProtKB - P48378 (RFX2_HUMAN)

Protein

DNA-binding protein RFX2

Gene

RFX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000087903.12
HGNCiHGNC:9983 RFX2
MIMi142765 gene
neXtProtiNX_P48378

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

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
ProteomicsDBi55881
55882 [P48378-2]

PTM databases

iPTMnetiP48378
PhosphoSitePlusiP48378

Expressioni

Gene expression databases

BgeeiENSG00000087903 Expressed in 199 organ(s), highest expression level in testis
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

Protein-protein interaction databases

BioGridi111922, 10 interactors
IntActiP48378, 9 interactors
MINTiP48378
STRINGi9606.ENSP00000306335

Structurei

3D structure databases

ProteinModelPortaliP48378
SMRiP48378
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3712 Eukaryota
ENOG410XSHE LUCA
GeneTreeiENSGT00550000074532
HOGENOMiHOG000294091
HOVERGENiHBG002753
InParanoidiP48378
KOiK09173
OMAiYIEKLWQ
OrthoDBiEOG091G0EID
PhylomeDBiP48378
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

This entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EJE4K7EJE4_HUMAN
DNA-binding protein RFX2
RFX2
99Annotation score:
K7ES56K7ES56_HUMAN
DNA-binding protein RFX2
RFX2
105Annotation score:
K7EIN5K7EIN5_HUMAN
DNA-binding protein RFX2
RFX2
142Annotation score:
K7ENC9K7ENC9_HUMAN
DNA-binding protein RFX2
RFX2
93Annotation score:
K7EQY9K7EQY9_HUMAN
DNA-binding protein RFX2
RFX2
110Annotation score:
K7EQU2K7EQU2_HUMAN
DNA-binding protein RFX2
RFX2
169Annotation score:
K7EQA0K7EQA0_HUMAN
DNA-binding protein RFX2
RFX2
147Annotation score:
K7EJD4K7EJD4_HUMAN
DNA-binding protein RFX2
RFX2
33Annotation score:
K7ELD5K7ELD5_HUMAN
DNA-binding protein RFX2
RFX2
180Annotation score:
K7ELQ7K7ELQ7_HUMAN
DNA-binding protein RFX2
RFX2
98Annotation score:

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 → T2 PublicationsCorresponds to variant dbSNP:rs2288846Ensembl.1
Natural variantiVAR_036531110E → K in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs748493309Ensembl.1
Natural variantiVAR_058416610R → Q1 PublicationCorresponds to variant dbSNP:rs17852566Ensembl.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
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

Similar proteinsi

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
UniGeneiHs.465709

3D structure databases

ProteinModelPortaliP48378
SMRiP48378
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111922, 10 interactors
IntActiP48378, 9 interactors
MINTiP48378
STRINGi9606.ENSP00000306335

PTM databases

iPTMnetiP48378
PhosphoSitePlusiP48378

Polymorphism and mutation databases

BioMutaiRFX2
DMDMi254763325

Proteomic databases

EPDiP48378
MaxQBiP48378
PaxDbiP48378
PeptideAtlasiP48378
PRIDEiP48378
ProteomicsDBi55881
55882 [P48378-2]

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
EuPathDBiHostDB:ENSG00000087903.12
GeneCardsiRFX2
H-InvDBiHIX0014689
HGNCiHGNC:9983 RFX2
HPAiHPA048969
MIMi142765 gene
neXtProtiNX_P48378
OpenTargetsiENSG00000087903
PharmGKBiPA34353
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiRFX2 human
GeneWikiiRFX2
GenomeRNAii5990
PROiPR:P48378
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000087903 Expressed in 199 organ(s), highest expression level in testis
CleanExiHS_RFX2
ExpressionAtlasiP48378 baseline and differential
GenevisibleiP48378 HS

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_HUMAN
AccessioniPrimary (citable) accession number: P48378
Secondary accession number(s): A8K581
, B3KNC4, Q6IQ44, Q8SNA2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 28, 2009
Last modified: November 7, 2018
This is version 150 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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