Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P48378 (RFX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DNA-binding protein RFX2
Alternative name(s):
Regulatory factor X 2
Gene names
Name:RFX2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length723 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Nucleus Probable.

Sequence similarities

Belongs to the RFX family.

Contains 1 RFX-type winged-helix DNA-binding domain.

Sequence caution

The sequence BAG51286.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P48378-1)

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.
Isoform 2 (identifier: P48378-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 723723DNA-binding protein RFX2
PRO_0000215288

Regions

DNA binding199 – 27476RFX-type winged-helix

Natural variations

Alternative sequence175 – 19925Missing in isoform 2.
VSP_037811
Natural variant371A → G in a breast cancer sample; somatic mutation. Ref.5
VAR_036530
Natural variant861A → T. Ref.1 Ref.2
Corresponds to variant rs2288846 [ dbSNP | Ensembl ].
VAR_057151
Natural variant1101E → K in a breast cancer sample; somatic mutation. Ref.5
VAR_036531
Natural variant6101R → Q. Ref.4
Corresponds to variant rs17852566 [ dbSNP | Ensembl ].
VAR_058416

Experimental info

Sequence conflict441A → S in CAA53705. Ref.1
Sequence conflict1701S → P in BAF83885. Ref.2
Sequence conflict2161P → H in AAH71571. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 28, 2009. Version 2.
Checksum: 0F299954977A9218

FASTA72379,987
        10         20         30         40         50         60 
MQNSEGGADS PASVALRPSA AAPPVPASPQ RVLVQAASSN PKGAQMQPIS LPRVQQVPQQ 

        70         80         90        100        110        120 
VQPVQHVYPA QVQYVEGGDA VYTNGAIRTA YTYNPEPQMY APSSTASYFE APGGAQVTVA 

       130        140        150        160        170        180 
ASSPPAVPSH SMVGITMDVG GSPIVSSAGA YLIHGGMDST RHSLAHTSRS SPATLEMAIE 

       190        200        210        220        230        240 
NLQKSEGITS HKSGLLNSHL QWLLDNYETA EGVSLPRSSL YNHYLRHCQE HKLDPVNAAS 

       250        260        270        280        290        300 
FGKLIRSVFM GLRTRRLGTR GNSKYHYYGI RLKPDSPLNR LQEDTQYMAM RQQPMHQKPR 

       310        320        330        340        350        360 
YRPAQKTDSL GDSGSHSGLH STPEQTMAVQ SQHHQQYIDV SHVFPEFPAP DLGSFLLQDG 

       370        380        390        400        410        420 
VTLHDVKALQ LVYRRHCEAT VDVVMNLQFH YIEKLWLSFW NSKASSSDGP TSLPASDEDP 

       430        440        450        460        470        480 
EGAVLPKDKL ISLCQCDPIL RWMRSCDHIL YQALVEILIP DVLRPVPSTL TQAIRNFAKS 

       490        500        510        520        530        540 
LEGWLTNAMS DFPQQVIQTK VGVVSAFAQT LRRYTSLNHL AQAARAVLQN TSQINQMLSD 

       550        560        570        580        590        600 
LNRVDFANVQ EQASWVCQCE ESVVQRLEQD FKLTLQQQSS LDQWASWLDS VVTQVLKQHA 

       610        620        630        640        650        660 
GSPSFPKAAR QFLLKWSFYS SMVIRDLTLR SAASFGSFHL IRLLYDEYMF YLVEHRVAEA 

       670        680        690        700        710        720 
TGETPIAVMG EFNDLASLSL TLLDKDDMGD EQRGSEAGPD ARSLGEPLVK RERSDPNHSL 


QGI 

« Hide

Isoform 2 [UniParc].

Checksum: 7057BC57EFE6882E
Show »

FASTA69877,268

References

« Hide 'large scale' references
[1]"RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins."
Reith W., Ucla C., Barras E., Gaud A., Durand B., Herrero-Sanchez C., Kobr M., Mach B.
Mol. Cell. Biol. 14:1230-1244(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-86.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT THR-86.
[3]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Tissue: Brain.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLN-610.
Tissue: Testis.
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-37 AND LYS-110.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRB55926.
RefSeqNP_000626.2. NM_000635.3.
NP_602309.1. NM_134433.2.
UniGeneHs.465709.

3D structure databases

ProteinModelPortalP48378.
SMRP48378. Positions 200-273.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111922. 4 interactions.
IntActP48378. 2 interactions.
MINTMINT-3016688.
STRING9606.ENSP00000306335.

PTM databases

PhosphoSiteP48378.

Polymorphism databases

DMDM254763325.

Proteomic databases

PaxDbP48378.
PRIDEP48378.

Protocols and materials databases

DNASU5990.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303657; ENSP00000306335; ENSG00000087903. [P48378-1]
ENST00000359161; ENSP00000352076; ENSG00000087903. [P48378-1]
ENST00000592546; ENSP00000467166; ENSG00000087903. [P48378-2]
GeneID5990.
KEGGhsa:5990.
UCSCuc002meb.3. human. [P48378-1]
uc002mec.3. human. [P48378-2]

Organism-specific databases

CTD5990.
GeneCardsGC19M005944.
H-InvDBHIX0014689.
HGNCHGNC:9983. RFX2.
HPAHPA048969.
MIM142765. gene.
neXtProtNX_P48378.
PharmGKBPA34353.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG264634.
HOGENOMHOG000294091.
HOVERGENHBG002753.
InParanoidP48378.
KOK09173.
OMAEAQIYAP.
OrthoDBEOG7TF793.
PhylomeDBP48378.
TreeFamTF321340.

Gene expression databases

ArrayExpressP48378.
BgeeP48378.
CleanExHS_RFX2.
GenevestigatorP48378.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR003150. DNA-bd_RFX.
IPR007668. RFX1_trans_act.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF04589. RFX1_trans_act. 1 hit.
PF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
PROSITEPS51526. RFX_DBD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRFX2.
GenomeRNAi5990.
NextBio23329.
PROP48378.
SOURCESearch...

Entry information

Entry nameRFX2_HUMAN
AccessionPrimary (citable) accession number: P48378
Secondary accession number(s): A8K581 expand/collapse secondary AC list , B3KNC4, Q6IQ44, Q8SNA2
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 28, 2009
Last modified: March 19, 2014
This is version 111 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM