MEF2B_HUMAN
ID MEF2B_HUMAN Reviewed; 365 AA.
AC Q02080; A0AV80; B4DVH7; B7ZVY1; G5E9M1;
DT 01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1996, sequence version 2.
DT 03-AUG-2022, entry version 185.
DE RecName: Full=Myocyte-specific enhancer factor 2B;
DE AltName: Full=RSRFR2;
DE AltName: Full=Serum response factor-like protein 2;
GN Name=MEF2B; Synonyms=XMEF2;
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 [MRNA] (ISOFORM 1).
RC TISSUE=Heart, and Skeletal muscle;
RX PubMed=1516833; DOI=10.1101/gad.6.9.1783;
RA Yu Y.-T., Breitbart R.E., Smoot L.B., Lee Y., Mahdavi V., Nadal-Ginard B.;
RT "Human myocyte-specific enhancer factor 2 comprises a group of tissue-
RT restricted MADS box transcription factors.";
RL Genes Dev. 6:1783-1798(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=1748287; DOI=10.1101/gad.5.12a.2327;
RA Pollock R., Treisman R.;
RT "Human SRF-related proteins: DNA-binding properties and potential
RT regulatory targets.";
RL Genes Dev. 5:2327-2341(1991).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Spleen;
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Testis;
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 [7]
RP X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 2-94.
RX PubMed=12700764; DOI=10.1038/nature01555;
RA Han A., Pan F., Stroud J.C., Youn H.-D., Liu J.O., Chen L.;
RT "Sequence-specific recruitment of transcriptional co-repressor Cabin1 by
RT myocyte enhancer factor-2.";
RL Nature 422:730-734(2003).
RN [8]
RP X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 1-93 IN COMPLEX WITH HDAC9 AND
RP DNA.
RX PubMed=15567413; DOI=10.1016/j.jmb.2004.10.033;
RA Han A., He J., Wu Y., Liu J.O., Chen L.;
RT "Mechanism of recruitment of class II histone deacetylases by myocyte
RT enhancer factor-2.";
RL J. Mol. Biol. 345:91-102(2005).
CC -!- FUNCTION: Transcriptional activator which binds specifically to the
CC MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific
CC genes. Activates transcription via this element. May be involved in
CC muscle-specific and/or growth factor-related transcription.
CC -!- SUBUNIT: Interacts with HDAC7 (By similarity). Heterodimer. Interacts
CC with HDAC9. {ECO:0000250, ECO:0000269|PubMed:15567413}.
CC -!- INTERACTION:
CC Q02080; Q9Y6J0: CABIN1; NbExp=3; IntAct=EBI-6427785, EBI-2795712;
CC Q02080; P56524-2: HDAC4; NbExp=3; IntAct=EBI-6427785, EBI-11953488;
CC Q02080; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-6427785, EBI-750487;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q02080-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q02080-2; Sequence=VSP_042322;
CC -!- TISSUE SPECIFICITY: Expressed in skeletal and cardiac muscle and brain.
CC -!- SIMILARITY: Belongs to the MEF2 family. {ECO:0000305}.
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DR EMBL; X68502; CAA48515.1; -; mRNA.
DR EMBL; X63380; CAA44978.1; -; mRNA.
DR EMBL; AK301086; BAG62689.1; -; mRNA.
DR EMBL; AK316328; BAH14699.1; -; mRNA.
DR EMBL; AC002126; AAB86982.1; -; Genomic_DNA.
DR EMBL; CH471106; EAW84788.1; -; Genomic_DNA.
DR EMBL; BC126245; AAI26246.1; -; mRNA.
DR EMBL; BC136457; AAI36458.1; -; mRNA.
DR EMBL; BC171767; AAI71767.1; -; mRNA.
DR CCDS; CCDS12394.1; -. [Q02080-1]
DR CCDS; CCDS46024.1; -. [Q02080-2]
DR PIR; A39481; A39481.
DR RefSeq; NP_001139257.1; NM_001145785.1. [Q02080-2]
DR RefSeq; NP_005910.1; NM_005919.3. [Q02080-1]
DR PDB; 1N6J; X-ray; 2.20 A; A/B=2-94.
DR PDB; 1TQE; X-ray; 2.70 A; P/Q/R/S=1-93.
DR PDB; 6BYY; X-ray; 2.30 A; A/B/C/D=63-91.
DR PDB; 6BZ1; X-ray; 2.97 A; A/B/C/D=65-91.
DR PDB; 6C9L; X-ray; 2.30 A; A/B/C/D/E/F=1-93.
DR PDB; 6WC2; X-ray; 2.10 A; A/B/C/D/I/J=1-8, A/B/C/D/I/J=73-91.
DR PDB; 6WC5; X-ray; 2.90 A; A/B/C/D=2-91.
DR PDBsum; 1N6J; -.
DR PDBsum; 1TQE; -.
DR PDBsum; 6BYY; -.
DR PDBsum; 6BZ1; -.
DR PDBsum; 6C9L; -.
DR PDBsum; 6WC2; -.
DR PDBsum; 6WC5; -.
DR AlphaFoldDB; Q02080; -.
DR SMR; Q02080; -.
DR BioGRID; 110371; 21.
DR BioGRID; 938509; 8.
DR IntAct; Q02080; 8.
DR STRING; 9606.ENSP00000390762; -.
DR iPTMnet; Q02080; -.
DR PhosphoSitePlus; Q02080; -.
DR BioMuta; MEF2B; -.
DR DMDM; 1346514; -.
DR MassIVE; Q02080; -.
DR MaxQB; Q02080; -.
DR PaxDb; Q02080; -.
DR PeptideAtlas; Q02080; -.
DR PRIDE; Q02080; -.
DR ProteomicsDB; 58042; -. [Q02080-1]
DR ProteomicsDB; 58043; -. [Q02080-2]
DR Antibodypedia; 47983; 165 antibodies from 21 providers.
DR DNASU; 4207; -.
DR Ensembl; ENST00000424583.7; ENSP00000402154.2; ENSG00000213999.17. [Q02080-2]
DR Ensembl; ENST00000444486.7; ENSP00000390762.2; ENSG00000213999.17. [Q02080-1]
DR GeneID; 100271849; -.
DR GeneID; 4207; -.
DR KEGG; hsa:100271849; -.
DR KEGG; hsa:4207; -.
DR MANE-Select; ENST00000424583.7; ENSP00000402154.2; NM_001145785.2; NP_001139257.1. [Q02080-2]
DR UCSC; uc002nll.3; human. [Q02080-1]
DR CTD; 100271849; -.
DR CTD; 4207; -.
DR DisGeNET; 100271849; -.
DR DisGeNET; 4207; -.
DR GeneCards; MEF2B; -.
DR HGNC; HGNC:6995; MEF2B.
DR HPA; ENSG00000213999; Tissue enriched (lymphoid).
DR MIM; 600661; gene.
DR neXtProt; NX_Q02080; -.
DR OpenTargets; ENSG00000213999; -.
DR VEuPathDB; HostDB:ENSG00000213999; -.
DR eggNOG; KOG0014; Eukaryota.
DR GeneTree; ENSGT00940000160699; -.
DR InParanoid; Q02080; -.
DR PhylomeDB; Q02080; -.
DR TreeFam; TF314067; -.
DR PathwayCommons; Q02080; -.
DR Reactome; R-HSA-525793; Myogenesis.
DR SignaLink; Q02080; -.
DR BioGRID-ORCS; 100271849; 22 hits in 697 CRISPR screens.
DR BioGRID-ORCS; 4207; 14 hits in 589 CRISPR screens.
DR EvolutionaryTrace; Q02080; -.
DR GeneWiki; MEF2B; -.
DR Pharos; Q02080; Tbio.
DR PRO; PR:Q02080; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q02080; protein.
DR Bgee; ENSG00000213999; Expressed in lymph node and 90 other tissues.
DR ExpressionAtlas; Q02080; baseline and differential.
DR Genevisible; Q02080; HS.
DR GO; GO:0030054; C:cell junction; IDA:HPA.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; TAS:ProtInc.
DR GO; GO:0005667; C:transcription regulator complex; IDA:BHF-UCL.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0042826; F:histone deacetylase binding; IPI:BHF-UCL.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0007517; P:muscle organ development; TAS:ProtInc.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00265; MADS_MEF2_like; 1.
DR Gene3D; 3.40.1810.10; -; 1.
DR InterPro; IPR033896; MADS_MEF2-like.
DR InterPro; IPR002100; TF_MADSbox.
DR InterPro; IPR036879; TF_MADSbox_sf.
DR Pfam; PF00319; SRF-TF; 1.
DR PRINTS; PR00404; MADSDOMAIN.
DR SMART; SM00432; MADS; 1.
DR SUPFAM; SSF55455; SSF55455; 1.
DR PROSITE; PS00350; MADS_BOX_1; 1.
DR PROSITE; PS50066; MADS_BOX_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Activator; Alternative splicing; DNA-binding; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..365
FT /note="Myocyte-specific enhancer factor 2B"
FT /id="PRO_0000199431"
FT DOMAIN 3..57
FT /note="MADS-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00251"
FT DNA_BIND 58..86
FT /note="Mef2-type"
FT /evidence="ECO:0000255"
FT REGION 94..124
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 142..309
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 321..365
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 223..241
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 350..365
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 257..365
FT /note="VGAEAWARRVPQPAAPPRRPPQSASSLSASLRPPGAPATFLRPSPIPCSSPG
FT PWQSLCGLGPPCAGCPWPTAGPGRRSPGGTSPERSPGTARARGDPTSLQASSEKTQQ
FT -> EYGLGDPPPPPGLLQPPTLAPWQPSRGDGPPAVSSQPSGGRSLGEEGPPTRGASPP
FT TPPVSIKSERLSPAPGGPGDFPKTFPYPLLLARSLAEPLRPGPALRRLPLADGWPR
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042322"
FT CONFLICT 195
FT /note="K -> R (in Ref. 3; BAG62689/BAH14699)"
FT /evidence="ECO:0000305"
FT HELIX 14..39
FT /evidence="ECO:0007829|PDB:1N6J"
FT STRAND 42..48
FT /evidence="ECO:0007829|PDB:1N6J"
FT STRAND 54..60
FT /evidence="ECO:0007829|PDB:1N6J"
FT HELIX 62..70
FT /evidence="ECO:0007829|PDB:1N6J"
FT STRAND 77..79
FT /evidence="ECO:0007829|PDB:6WC2"
FT HELIX 81..90
FT /evidence="ECO:0007829|PDB:6WC2"
SQ SEQUENCE 365 AA; 38639 MW; B12A19B1F659C7C7 CRC64;
MGRKKIQISR ILDQRNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNS ANRLFQYAST
DMDRVLLKYT EYSEPHESRT NTDILETLKR RGIGLDGPEL EPDEGPEEPG EKFRRLAGEG
GDPALPRPRL YPAAPAMPSP DVVYGALPPP GCDPSGLGEA LPAQSRPSPF RPAAPKAGPP
GLVHPLFSPS HLTSKTPPPL YLPTEGRRSD LPGGLAGPRG GLNTSRSLYS GLQNPCSTAT
PGPPLGSFPF LPGGPPVGAE AWARRVPQPA APPRRPPQSA SSLSASLRPP GAPATFLRPS
PIPCSSPGPW QSLCGLGPPC AGCPWPTAGP GRRSPGGTSP ERSPGTARAR GDPTSLQASS
EKTQQ
