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P48378

- RFX2_HUMAN

UniProt

P48378 - RFX2_HUMAN

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Protein

DNA-binding protein RFX2

Gene

RFX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi199 – 27476RFX-type winged-helixPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: ProtInc

GO - Biological processi

  1. regulation of transcription, DNA-templated Source: UniProtKB-KW
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:9983. RFX2.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34353.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 723723DNA-binding protein RFX2PRO_0000215288Add
BLAST

Proteomic databases

MaxQBiP48378.
PaxDbiP48378.
PRIDEiP48378.

PTM databases

PhosphoSiteiP48378.

Expressioni

Gene expression databases

BgeeiP48378.
CleanExiHS_RFX2.
ExpressionAtlasiP48378. baseline and differential.
GenevestigatoriP48378.

Organism-specific databases

HPAiHPA048969.

Interactioni

Protein-protein interaction databases

BioGridi111922. 5 interactions.
IntActiP48378. 2 interactions.
MINTiMINT-3016688.
STRINGi9606.ENSP00000306335.

Structurei

3D structure databases

ProteinModelPortaliP48378.
SMRiP48378. Positions 200-273.
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

eggNOGiNOG264634.
GeneTreeiENSGT00550000074532.
HOGENOMiHOG000294091.
HOVERGENiHBG002753.
InParanoidiP48378.
KOiK09173.
OMAiEAQIYAP.
OrthoDBiEOG7TF793.
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]
PROSITEiPS51526. RFX_DBD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti44 – 441A → S in CAA53705. (PubMed:8289803)Curated
Sequence conflicti170 – 1701S → P in BAF83885. (PubMed:14702039)Curated
Sequence conflicti216 – 2161P → H in AAH71571. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371A → G in a breast cancer sample; somatic mutation. 1 Publication
VAR_036530
Natural varianti86 – 861A → T.2 Publications
Corresponds to variant rs2288846 [ dbSNP | Ensembl ].
VAR_057151
Natural varianti110 – 1101E → K in a breast cancer sample; somatic mutation. 1 Publication
VAR_036531
Natural varianti610 – 6101R → Q.1 Publication
Corresponds to variant rs17852566 [ dbSNP | Ensembl ].
VAR_058416

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei175 – 19925Missing in isoform 2. 1 PublicationVSP_037811Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
UniGeneiHs.465709.

Genome annotation databases

EnsembliENST00000303657; ENSP00000306335; ENSG00000087903. [P48378-1]
ENST00000359161; ENSP00000352076; ENSG00000087903. [P48378-1]
ENST00000592546; ENSP00000467166; ENSG00000087903. [P48378-2]
GeneIDi5990.
KEGGihsa:5990.
UCSCiuc002meb.3. human. [P48378-1]
uc002mec.3. human. [P48378-2]

Polymorphism databases

DMDMi254763325.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS12157.1. [P48378-1 ]
CCDS12158.1. [P48378-2 ]
PIRi B55926.
RefSeqi NP_000626.2. NM_000635.3. [P48378-1 ]
NP_602309.1. NM_134433.2. [P48378-2 ]
UniGenei Hs.465709.

3D structure databases

ProteinModelPortali P48378.
SMRi P48378. Positions 200-273.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111922. 5 interactions.
IntActi P48378. 2 interactions.
MINTi MINT-3016688.
STRINGi 9606.ENSP00000306335.

PTM databases

PhosphoSitei P48378.

Polymorphism databases

DMDMi 254763325.

Proteomic databases

MaxQBi P48378.
PaxDbi P48378.
PRIDEi P48378.

Protocols and materials databases

DNASUi 5990.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303657 ; ENSP00000306335 ; ENSG00000087903 . [P48378-1 ]
ENST00000359161 ; ENSP00000352076 ; ENSG00000087903 . [P48378-1 ]
ENST00000592546 ; ENSP00000467166 ; ENSG00000087903 . [P48378-2 ]
GeneIDi 5990.
KEGGi hsa:5990.
UCSCi uc002meb.3. human. [P48378-1 ]
uc002mec.3. human. [P48378-2 ]

Organism-specific databases

CTDi 5990.
GeneCardsi GC19M005944.
H-InvDB HIX0014689.
HGNCi HGNC:9983. RFX2.
HPAi HPA048969.
MIMi 142765. gene.
neXtProti NX_P48378.
PharmGKBi PA34353.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG264634.
GeneTreei ENSGT00550000074532.
HOGENOMi HOG000294091.
HOVERGENi HBG002753.
InParanoidi P48378.
KOi K09173.
OMAi EAQIYAP.
OrthoDBi EOG7TF793.
PhylomeDBi P48378.
TreeFami TF321340.

Miscellaneous databases

GeneWikii RFX2.
GenomeRNAii 5990.
NextBioi 23329.
PROi P48378.
SOURCEi Search...

Gene expression databases

Bgeei P48378.
CleanExi HS_RFX2.
ExpressionAtlasi P48378. baseline and differential.
Genevestigatori P48378.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
InterProi IPR003150. DNA-bd_RFX.
IPR007668. RFX1_trans_act.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF04589. RFX1_trans_act. 1 hit.
PF02257. RFX_DNA_binding. 1 hit.
[Graphical view ]
PROSITEi PS51526. RFX_DBD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-37 AND LYS-110.

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: October 29, 2014
This is version 115 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

External Data

Dasty 3