ETV2_HUMAN
ID ETV2_HUMAN Reviewed; 342 AA.
AC O00321; A6NFN5; B3KUL0; B9EIN1; Q9UEA0;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2012, sequence version 2.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=ETS translocation variant 2;
DE AltName: Full=Ets-related protein 71;
GN Name=ETV2; Synonyms=ER71, ETSRP71;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ASN-90.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 202-341 (ISOFORM 1).
RA Aryee D.N.T., Kovar H.;
RT "Novel family members HuER71, ELFR, and ELKv among ETS-related genes
RT coexpressed with EWS-FLI1 in Ewing tumor cell lines.";
RL Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Binds to DNA sequences containing the consensus
CC pentanucleotide 5'-CGGA[AT]-3'. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O00321-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O00321-2; Sequence=VSP_055488;
CC -!- SIMILARITY: Belongs to the ETS family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB57630.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK097439; BAG53472.1; -; mRNA.
DR EMBL; AC002115; AAB57630.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC140746; AAI40747.1; -; mRNA.
DR EMBL; AF000671; AAD00861.1; -; mRNA.
DR CCDS; CCDS32995.2; -. [O00321-1]
DR RefSeq; NP_055024.2; NM_014209.3. [O00321-1]
DR RefSeq; XP_005258709.1; XM_005258652.2. [O00321-2]
DR AlphaFoldDB; O00321; -.
DR SMR; O00321; -.
DR BioGRID; 108417; 2.
DR IntAct; O00321; 2.
DR STRING; 9606.ENSP00000384524; -.
DR iPTMnet; O00321; -.
DR PhosphoSitePlus; O00321; -.
DR BioMuta; ETV2; -.
DR PaxDb; O00321; -.
DR PeptideAtlas; O00321; -.
DR PRIDE; O00321; -.
DR ProteomicsDB; 47837; -. [O00321-1]
DR Antibodypedia; 29485; 162 antibodies from 26 providers.
DR DNASU; 2116; -.
DR Ensembl; ENST00000379026.6; ENSP00000368312.2; ENSG00000105672.15. [O00321-2]
DR Ensembl; ENST00000402764.6; ENSP00000384524.2; ENSG00000105672.15. [O00321-1]
DR Ensembl; ENST00000403402.1; ENSP00000385369.1; ENSG00000105672.15. [O00321-1]
DR GeneID; 2116; -.
DR KEGG; hsa:2116; -.
DR MANE-Select; ENST00000402764.6; ENSP00000384524.2; NM_014209.4; NP_055024.2.
DR UCSC; uc002oar.2; human. [O00321-1]
DR CTD; 2116; -.
DR DisGeNET; 2116; -.
DR GeneCards; ETV2; -.
DR HGNC; HGNC:3491; ETV2.
DR HPA; ENSG00000105672; Tissue enriched (testis).
DR MIM; 609358; gene.
DR neXtProt; NX_O00321; -.
DR PharmGKB; PA27905; -.
DR VEuPathDB; HostDB:ENSG00000105672; -.
DR eggNOG; KOG3806; Eukaryota.
DR GeneTree; ENSGT00940000162407; -.
DR InParanoid; O00321; -.
DR OMA; GLHTDCT; -.
DR OrthoDB; 526256at2759; -.
DR TreeFam; TF316214; -.
DR PathwayCommons; O00321; -.
DR SignaLink; O00321; -.
DR SIGNOR; O00321; -.
DR BioGRID-ORCS; 2116; 12 hits in 1090 CRISPR screens.
DR GenomeRNAi; 2116; -.
DR Pharos; O00321; Tbio.
DR PRO; PR:O00321; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; O00321; protein.
DR Bgee; ENSG00000105672; Expressed in left testis and 92 other tissues.
DR ExpressionAtlas; O00321; baseline and differential.
DR Genevisible; O00321; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0001824; P:blastocyst development; IEA:Ensembl.
DR GO; GO:0048514; P:blood vessel morphogenesis; IEA:Ensembl.
DR GO; GO:0060803; P:BMP signaling pathway involved in mesodermal cell fate specification; IEA:Ensembl.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0030218; P:erythrocyte differentiation; IEA:Ensembl.
DR GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl.
DR GO; GO:0001890; P:placenta development; IEA:Ensembl.
DR GO; GO:0045603; P:positive regulation of endothelial cell differentiation; IEA:Ensembl.
DR GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
DR GO; GO:2000382; P:positive regulation of mesoderm development; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0016055; P:Wnt signaling pathway; IEA:Ensembl.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR000418; Ets_dom.
DR InterPro; IPR046328; ETS_fam.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR PANTHER; PTHR11849; PTHR11849; 1.
DR Pfam; PF00178; Ets; 1.
DR PRINTS; PR00454; ETSDOMAIN.
DR SMART; SM00413; ETS; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR PROSITE; PS00345; ETS_DOMAIN_1; 1.
DR PROSITE; PS00346; ETS_DOMAIN_2; 1.
DR PROSITE; PS50061; ETS_DOMAIN_3; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Nucleus; Reference proteome.
FT CHAIN 1..342
FT /note="ETS translocation variant 2"
FT /id="PRO_0000204112"
FT DNA_BIND 240..320
FT /note="ETS"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00237"
FT VAR_SEQ 23
FT /note="L -> LGRLPRLPQRVWGGCPGGASADPNPLSPA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055488"
FT VARIANT 90
FT /note="D -> N (in dbSNP:rs2285419)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_071062"
FT CONFLICT 214
FT /note="L -> F (in Ref. 4; AAD00861)"
FT /evidence="ECO:0000305"
FT CONFLICT 303
FT /note="Y -> L (in Ref. 4; AAD00861)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 342 AA; 36633 MW; 9B0103D5D4B1AB8C CRC64;
MDLWNWDEAS PQEVPPGNKL AGLEGAKLGF CFPDLALQGD TPTATAETCW KGTSSSLASF
PQLDWGSALL HPEVPWGAEP DSQALPWSGD WTDMACTAWD SWSGASQTLG PAPLGPGPIP
AAGSEGAAGQ NCVPVAGEAT SWSRAQAAGS NTSWDCSVGP DGDTYWGSGL GGEPRTDCTI
SWGGPAGPDC TTSWNPGLHA GGTTSLKRYQ SSALTVCSEP SPQSDRASLA RCPKTNHRGP
IQLWQFLLEL LHDGARSSCI RWTGNSREFQ LCDPKEVARL WGERKRKPGM NYEKLSRGLR
YYYRRDIVRK SGGRKYTYRF GGRVPSLAYP DCAGGGRGAE TQ
