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P48378

- RFX2_HUMAN

UniProt

P48378 - RFX2_HUMAN

Protein

DNA-binding protein RFX2

Gene

RFX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 2 (28 Jul 2009)
      Previous versions | rss
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    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

    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-SubCell

    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

    PaxDbiP48378.
    PRIDEiP48378.

    PTM databases

    PhosphoSiteiP48378.

    Expressioni

    Gene expression databases

    ArrayExpressiP48378.
    BgeeiP48378.
    CleanExiHS_RFX2.
    GenevestigatoriP48378.

    Organism-specific databases

    HPAiHPA048969.

    Interactioni

    Protein-protein interaction databases

    BioGridi111922. 4 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.
    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

    MQNSEGGADS PASVALRPSA AAPPVPASPQ RVLVQAASSN PKGAQMQPIS    50
    LPRVQQVPQQ VQPVQHVYPA QVQYVEGGDA VYTNGAIRTA YTYNPEPQMY 100
    APSSTASYFE APGGAQVTVA ASSPPAVPSH SMVGITMDVG GSPIVSSAGA 150
    YLIHGGMDST RHSLAHTSRS SPATLEMAIE NLQKSEGITS HKSGLLNSHL 200
    QWLLDNYETA EGVSLPRSSL YNHYLRHCQE HKLDPVNAAS FGKLIRSVFM 250
    GLRTRRLGTR GNSKYHYYGI RLKPDSPLNR LQEDTQYMAM RQQPMHQKPR 300
    YRPAQKTDSL GDSGSHSGLH STPEQTMAVQ SQHHQQYIDV SHVFPEFPAP 350
    DLGSFLLQDG VTLHDVKALQ LVYRRHCEAT VDVVMNLQFH YIEKLWLSFW 400
    NSKASSSDGP TSLPASDEDP EGAVLPKDKL ISLCQCDPIL RWMRSCDHIL 450
    YQALVEILIP DVLRPVPSTL TQAIRNFAKS LEGWLTNAMS DFPQQVIQTK 500
    VGVVSAFAQT LRRYTSLNHL AQAARAVLQN TSQINQMLSD LNRVDFANVQ 550
    EQASWVCQCE ESVVQRLEQD FKLTLQQQSS LDQWASWLDS VVTQVLKQHA 600
    GSPSFPKAAR QFLLKWSFYS SMVIRDLTLR SAASFGSFHL IRLLYDEYMF 650
    YLVEHRVAEA TGETPIAVMG EFNDLASLSL TLLDKDDMGD EQRGSEAGPD 700
    ARSLGEPLVK RERSDPNHSL QGI 723
    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. 4 interactions.
    IntActi P48378. 2 interactions.
    MINTi MINT-3016688.
    STRINGi 9606.ENSP00000306335.

    PTM databases

    PhosphoSitei P48378.

    Polymorphism databases

    DMDMi 254763325.

    Proteomic databases

    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.
    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

    ArrayExpressi P48378.
    Bgeei P48378.
    CleanExi HS_RFX2.
    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

    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 1, 2014
    This is version 114 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