P48378 (RFX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
DNA-binding protein RFX2

Alternative name(s):
Regulatory factor X 2

Gene names

Name:

RFX2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	723 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 723	723	DNA-binding protein RFX2		PRO_0000215288
Regions
	DNA binding	199 – 274	76	RFX-type winged-helix
Natural variations
	Alternative sequence	175 – 199	25	Missing in isoform 2.		VSP_037811
	Natural variant	37	1	A → G in a breast cancer sample; somatic mutation. Ref.5		VAR_036530
	Natural variant	86	1	A → T. Ref.1 Ref.2 Corresponds to variant rs2288846 [ dbSNP | Ensembl ].		VAR_057151
	Natural variant	110	1	E → K in a breast cancer sample; somatic mutation. Ref.5		VAR_036531
	Natural variant	610	1	R → Q. Ref.4 Corresponds to variant rs17852566 [ dbSNP | Ensembl ].		VAR_058416
Experimental info
	Sequence conflict	44	1	A → S in CAA53705. Ref.1
	Sequence conflict	170	1	S → P in BAF83885. Ref.2
	Sequence conflict	216	1	P → H in AAH71571. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 28, 2009. Version 2. Checksum: 0F299954977A9218	FASTA	723	79,987
	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
	Isoform 2 [UniParc]. Checksum: 7057BC57EFE6882E	FASTA	698	77,268
	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 SPATLQWLLD 190 200 210 220 230 240 NYETAEGVSL PRSSLYNHYL RHCQEHKLDP VNAASFGKLI RSVFMGLRTR RLGTRGNSKY 250 260 270 280 290 300 HYYGIRLKPD SPLNRLQEDT QYMAMRQQPM HQKPRYRPAQ KTDSLGDSGS HSGLHSTPEQ 310 320 330 340 350 360 TMAVQSQHHQ QYIDVSHVFP EFPAPDLGSF LLQDGVTLHD VKALQLVYRR HCEATVDVVM 370 380 390 400 410 420 NLQFHYIEKL WLSFWNSKAS SSDGPTSLPA SDEDPEGAVL PKDKLISLCQ CDPILRWMRS 430 440 450 460 470 480 CDHILYQALV EILIPDVLRP VPSTLTQAIR NFAKSLEGWL TNAMSDFPQQ VIQTKVGVVS 490 500 510 520 530 540 AFAQTLRRYT SLNHLAQAAR AVLQNTSQIN QMLSDLNRVD FANVQEQASW VCQCEESVVQ 550 560 570 580 590 600 RLEQDFKLTL QQQSSLDQWA SWLDSVVTQV LKQHAGSPSF PKAARQFLLK WSFYSSMVIR 610 620 630 640 650 660 DLTLRSAASF GSFHLIRLLY DEYMFYLVEH RVAEATGETP IAVMGEFNDL ASLSLTLLDK 670 680 690 DDMGDEQRGS EAGPDARSLG EPLVKRERSD PNHSLQGI

References

	« Hide 'large scale' referencesShow '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. , 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]	"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. , 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.
IPI	IPI00107801. IPI00298182.
PIR	B55926.
RefSeq	NP_000626.2. NM_000635.3. NP_602309.1. NM_134433.2.
UniGene	Hs.465709.
3D structure databases
ProteinModelPortal	P48378.
ModBase	Search...
Protein-protein interaction databases
IntAct	P48378. 2 interactions.
MINT	MINT-3016688.
STRING	9606.ENSP00000306335.
PTM databases
PhosphoSite	P48378.
Polymorphism databases
DMDM	254763325.
Proteomic databases
PaxDb	P48378.
PRIDE	P48378.
Protocols and materials databases
DNASU	5990.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303657; ENSP00000306335; ENSG00000087903. ENST00000359161; ENSP00000352076; ENSG00000087903. ENST00000592546; ENSP00000467166; ENSG00000087903.
GeneID	5990.
KEGG	hsa:5990.
UCSC	uc002meb.3. human. uc002mec.3. human.
Organism-specific databases
CTD	5990.
GeneCards	GC19M005944.
H-InvDB	HIX0014689.
HGNC	HGNC:9983. RFX2.
HPA	HPA048969.
MIM	142765. gene.
neXtProt	NX_P48378.
PharmGKB	PA34353.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG264634.
HOGENOM	HOG000294091.
HOVERGEN	HBG002753.
InParanoid	P48378.
KO	K09173.
OMA	SGAYLIH.
PhylomeDB	P48378.
Gene expression databases
ArrayExpress	P48378.
Bgee	P48378.
CleanEx	HS_RFX2.
Genevestigator	P48378.
GermOnline	ENSG00000087903. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.10. 1 hit.
InterPro	IPR003150. DNA-bd_RFX. IPR007668. RFX1_trans_act. IPR011991. WHTH_DNA-bd_dom. [Graphical view]
Pfam	PF04589. RFX1_trans_act. 1 hit. PF02257. RFX_DNA_binding. 1 hit. [Graphical view]
PROSITE	PS51526. RFX_DBD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5990.
NextBio	23329.
SOURCE	Search...

Entry information

Entry name

RFX2_HUMAN

Accession

Primary (citable) accession number: P48378
Secondary accession number(s): A8K581 , B3KNC4, Q6IQ44, Q8SNA2

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1996
Last sequence update:	July 28, 2009
Last modified:	May 1, 2013
This is version 105 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.