HEY2_HUMAN
ID HEY2_HUMAN Reviewed; 337 AA.
AC Q9UBP5;
DT 11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 177.
DE RecName: Full=Hairy/enhancer-of-split related with YRPW motif protein 2;
DE AltName: Full=Cardiovascular helix-loop-helix factor 1;
DE Short=hCHF1;
DE AltName: Full=Class B basic helix-loop-helix protein 32;
DE Short=bHLHb32;
DE AltName: Full=HES-related repressor protein 2;
DE AltName: Full=Hairy and enhancer of split-related protein 2;
DE Short=HESR-2;
DE AltName: Full=Hairy-related transcription factor 2;
DE Short=HRT-2;
DE Short=hHRT2;
DE AltName: Full=Protein gridlock homolog;
GN Name=HEY2; Synonyms=BHLHB32, CHF1, GRL, HERP, HERP1, HRT2;
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].
RX PubMed=10415358; DOI=10.1016/s0925-4773(99)00080-5;
RA Leimeister C., Externbrinck A., Klamt B., Gessler M.;
RT "Hey genes: a novel subfamily of hairy- and enhancer of split related genes
RT specifically expressed during mouse embryogenesis.";
RL Mech. Dev. 85:173-177(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Heart;
RX PubMed=10710309; DOI=10.1126/science.287.5459.1820;
RA Zhong T.P., Rosenberg M., Mohideen M.-A.P.K., Weinstein B., Fishman M.C.;
RT "Gridlock, an HLH gene required for assembly of the aorta in zebrafish.";
RL Science 287:1820-1824(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, AND INTERACTION WITH ARNT.
RC TISSUE=Heart;
RX PubMed=10692439; DOI=10.1074/jbc.275.9.6381;
RA Chin M.T., Maemura K., Fukumoto S., Jain M.K., Layne M.D., Watanabe M.,
RA Hsieh C.-M., Lee M.-E.;
RT "Cardiovascular basic helix loop helix factor 1, a novel transcriptional
RT repressor expressed preferentially in the developing and adult
RT cardiovascular system.";
RL J. Biol. Chem. 275:6381-6387(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, AND DNA-BINDING.
RX PubMed=11095750; DOI=10.1073/pnas.250485597;
RA Nakagawa O., McFadden D.G., Nakagawa M., Yanagisawa H., Hu T.,
RA Srivastava D., Olson E.N.;
RT "Members of the HRT family of basic helix-loop-helix proteins act as
RT transcriptional repressors downstream of Notch signaling.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:13655-13660(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Heart;
RX PubMed=11486044; DOI=10.1128/mcb.21.17.6071-6079.2001;
RA Iso T., Sartorelli V., Chung G., Shichinohe T., Kedes L., Hamamori Y.;
RT "HERP, a new primary target of Notch regulated by ligand binding.";
RL Mol. Cell. Biol. 21:6071-6079(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Testis;
RA Tanaka K., Miyata J., Ikeda J.;
RT "Homo sapiens testis cDNA clone, basic-helix-loop-helix protein (Hey2).";
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
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 [10]
RP FUNCTION.
RX PubMed=15485867; DOI=10.1074/jbc.m409879200;
RA Kathiriya I.S., King I.N., Murakami M., Nakagawa M., Astle J.M.,
RA Gardner K.A., Gerard R.D., Olson E.N., Srivastava D., Nakagawa O.;
RT "Hairy-related transcription factors inhibit GATA-dependent cardiac gene
RT expression through a signal-responsive mechanism.";
RL J. Biol. Chem. 279:54937-54943(2004).
RN [11]
RP FUNCTION, INTERACTION WITH GATA6, AND MUTAGENESIS OF GLY-54.
RX PubMed=16293227; DOI=10.1016/j.bbrc.2005.10.190;
RA Shirvani S., Xiang F., Koibuchi N., Chin M.T.;
RT "CHF1/Hey2 suppresses SM-MHC promoter activity through an interaction with
RT GATA-6.";
RL Biochem. Biophys. Res. Commun. 339:151-156(2006).
RN [12]
RP VARIANTS ALA-96; ALA-98 AND SER-100.
RX PubMed=16329098; DOI=10.1002/humu.9390;
RA Reamon-Buettner S.M., Borlak J.;
RT "HEY2 mutations in malformed hearts.";
RL Hum. Mutat. 27:118-118(2006).
CC -!- FUNCTION: Downstream effector of Notch signaling which may be required
CC for cardiovascular development. Transcriptional repressor which binds
CC preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses
CC transcription by the cardiac transcriptional activators GATA4 and
CC GATA6. {ECO:0000269|PubMed:10692439, ECO:0000269|PubMed:11095750,
CC ECO:0000269|PubMed:15485867, ECO:0000269|PubMed:16293227}.
CC -!- SUBUNIT: May self-associate (By similarity). Interacts with GATA4, HES1
CC and HEYL (By similarity). Interacts with HDAC1, NCOR1 and SIN3A (By
CC similarity). Interacts with ARNT and GATA6. {ECO:0000250,
CC ECO:0000269|PubMed:10692439, ECO:0000269|PubMed:16293227}.
CC -!- INTERACTION:
CC Q9UBP5; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-750630, EBI-3867333;
CC Q9UBP5; Q5TD97: FHL5; NbExp=3; IntAct=EBI-750630, EBI-750641;
CC Q9UBP5; P49639: HOXA1; NbExp=3; IntAct=EBI-750630, EBI-740785;
CC Q9UBP5; O75031: HSF2BP; NbExp=3; IntAct=EBI-750630, EBI-7116203;
CC Q9UBP5; P42858: HTT; NbExp=2; IntAct=EBI-750630, EBI-466029;
CC Q9UBP5; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-750630, EBI-11959885;
CC Q9UBP5; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-750630, EBI-1052037;
CC Q9UBP5; Q9BYR8: KRTAP3-1; NbExp=3; IntAct=EBI-750630, EBI-9996449;
CC Q9UBP5; Q9BYR3: KRTAP4-4; NbExp=3; IntAct=EBI-750630, EBI-11958132;
CC Q9UBP5; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-750630, EBI-3958099;
CC Q9UBP5; Q3LI64: KRTAP6-1; NbExp=3; IntAct=EBI-750630, EBI-12111050;
CC Q9UBP5; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-750630, EBI-11962084;
CC Q9UBP5; Q8IUC2: KRTAP8-1; NbExp=3; IntAct=EBI-750630, EBI-10261141;
CC Q9UBP5; Q9NR12: PDLIM7; NbExp=3; IntAct=EBI-750630, EBI-350517;
CC Q9UBP5; Q93062: RBPMS; NbExp=3; IntAct=EBI-750630, EBI-740322;
CC Q9UBP5; Q96EB6: SIRT1; NbExp=3; IntAct=EBI-750630, EBI-1802965;
CC Q9UBP5; Q13077: TRAF1; NbExp=6; IntAct=EBI-750630, EBI-359224;
CC Q9UBP5; Q9BUZ4: TRAF4; NbExp=3; IntAct=EBI-750630, EBI-3650647;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00380,
CC ECO:0000255|PROSITE-ProRule:PRU00981}.
CC -!- SIMILARITY: Belongs to the HEY family. {ECO:0000305}.
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DR EMBL; AJ249545; CAB56839.1; -; mRNA.
DR EMBL; AF237949; AAF44781.1; -; mRNA.
DR EMBL; AF173901; AAF20173.1; -; mRNA.
DR EMBL; AF311884; AAG31157.1; -; mRNA.
DR EMBL; AF232238; AAF37296.1; -; mRNA.
DR EMBL; AB044755; BAA96781.1; -; mRNA.
DR EMBL; BT020067; AAV38870.1; -; mRNA.
DR EMBL; BT020068; AAV38871.1; -; mRNA.
DR EMBL; AL078594; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC007707; AAH07707.1; -; mRNA.
DR CCDS; CCDS5131.1; -.
DR RefSeq; NP_036391.1; NM_012259.2.
DR AlphaFoldDB; Q9UBP5; -.
DR SMR; Q9UBP5; -.
DR BioGRID; 117045; 53.
DR CORUM; Q9UBP5; -.
DR ELM; Q9UBP5; -.
DR IntAct; Q9UBP5; 26.
DR STRING; 9606.ENSP00000357348; -.
DR TCDB; 3.A.16.1.4; the endoplasmic reticular retrotranslocon (er-rt) family.
DR iPTMnet; Q9UBP5; -.
DR PhosphoSitePlus; Q9UBP5; -.
DR BioMuta; HEY2; -.
DR DMDM; 74762767; -.
DR MassIVE; Q9UBP5; -.
DR PaxDb; Q9UBP5; -.
DR PeptideAtlas; Q9UBP5; -.
DR PRIDE; Q9UBP5; -.
DR ProteomicsDB; 84025; -.
DR Antibodypedia; 32702; 238 antibodies from 33 providers.
DR DNASU; 23493; -.
DR Ensembl; ENST00000368364.4; ENSP00000357348.3; ENSG00000135547.9.
DR GeneID; 23493; -.
DR KEGG; hsa:23493; -.
DR MANE-Select; ENST00000368364.4; ENSP00000357348.3; NM_012259.3; NP_036391.1.
DR UCSC; uc003qad.4; human.
DR CTD; 23493; -.
DR DisGeNET; 23493; -.
DR GeneCards; HEY2; -.
DR HGNC; HGNC:4881; HEY2.
DR HPA; ENSG00000135547; Low tissue specificity.
DR MIM; 604674; gene.
DR neXtProt; NX_Q9UBP5; -.
DR OpenTargets; ENSG00000135547; -.
DR Orphanet; 91387; Familial thoracic aortic aneurysm and aortic dissection.
DR PharmGKB; PA29259; -.
DR VEuPathDB; HostDB:ENSG00000135547; -.
DR eggNOG; KOG4304; Eukaryota.
DR GeneTree; ENSGT00940000160636; -.
DR InParanoid; Q9UBP5; -.
DR OMA; HWTAAFH; -.
DR OrthoDB; 1201152at2759; -.
DR PhylomeDB; Q9UBP5; -.
DR TreeFam; TF323617; -.
DR PathwayCommons; Q9UBP5; -.
DR Reactome; R-HSA-2122947; NOTCH1 Intracellular Domain Regulates Transcription.
DR Reactome; R-HSA-2644606; Constitutive Signaling by NOTCH1 PEST Domain Mutants.
DR Reactome; R-HSA-2894862; Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
DR Reactome; R-HSA-8940973; RUNX2 regulates osteoblast differentiation.
DR Reactome; R-HSA-9013508; NOTCH3 Intracellular Domain Regulates Transcription.
DR Reactome; R-HSA-9013695; NOTCH4 Intracellular Domain Regulates Transcription.
DR SignaLink; Q9UBP5; -.
DR SIGNOR; Q9UBP5; -.
DR BioGRID-ORCS; 23493; 14 hits in 1094 CRISPR screens.
DR GeneWiki; HEY2; -.
DR GenomeRNAi; 23493; -.
DR Pharos; Q9UBP5; Tbio.
DR PRO; PR:Q9UBP5; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9UBP5; protein.
DR Bgee; ENSG00000135547; Expressed in popliteal artery and 167 other tissues.
DR ExpressionAtlas; Q9UBP5; baseline and differential.
DR Genevisible; Q9UBP5; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0017053; C:transcription repressor complex; IDA:BHF-UCL.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:UniProtKB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; ISS:UniProtKB.
DR GO; GO:0042826; F:histone deacetylase binding; IPI:BHF-UCL.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
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; IBA:GO_Central.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; IPI:BHF-UCL.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:BHF-UCL.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009948; P:anterior/posterior axis specification; IEA:Ensembl.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0003180; P:aortic valve morphogenesis; ISS:BHF-UCL.
DR GO; GO:0060842; P:arterial endothelial cell differentiation; ISS:BHF-UCL.
DR GO; GO:0035910; P:ascending aorta morphogenesis; ISS:BHF-UCL.
DR GO; GO:0060413; P:atrial septum morphogenesis; ISS:BHF-UCL.
DR GO; GO:0003161; P:cardiac conduction system development; NAS:BHF-UCL.
DR GO; GO:0060317; P:cardiac epithelial to mesenchymal transition; ISS:BHF-UCL.
DR GO; GO:0003214; P:cardiac left ventricle morphogenesis; ISS:BHF-UCL.
DR GO; GO:0010659; P:cardiac muscle cell apoptotic process; IEA:Ensembl.
DR GO; GO:0060038; P:cardiac muscle cell proliferation; IEA:Ensembl.
DR GO; GO:0014898; P:cardiac muscle hypertrophy in response to stress; IEA:Ensembl.
DR GO; GO:0003215; P:cardiac right ventricle morphogenesis; ISS:BHF-UCL.
DR GO; GO:0060411; P:cardiac septum morphogenesis; ISS:BHF-UCL.
DR GO; GO:0060948; P:cardiac vascular smooth muscle cell development; IEA:Ensembl.
DR GO; GO:0003208; P:cardiac ventricle morphogenesis; ISS:UniProtKB.
DR GO; GO:0045165; P:cell fate commitment; IEA:Ensembl.
DR GO; GO:0072359; P:circulatory system development; IBA:GO_Central.
DR GO; GO:0090102; P:cochlea development; IEA:Ensembl.
DR GO; GO:0060977; P:coronary vasculature morphogenesis; IEA:Ensembl.
DR GO; GO:0035912; P:dorsal aorta morphogenesis; ISS:BHF-UCL.
DR GO; GO:0003199; P:endocardial cushion to mesenchymal transition involved in heart valve formation; IEA:Ensembl.
DR GO; GO:0003198; P:epithelial to mesenchymal transition involved in endocardial cushion formation; TAS:BHF-UCL.
DR GO; GO:0060347; P:heart trabecula formation; IEA:Ensembl.
DR GO; GO:0060716; P:labyrinthine layer blood vessel development; ISS:BHF-UCL.
DR GO; GO:0014031; P:mesenchymal cell development; ISS:BHF-UCL.
DR GO; GO:0003150; P:muscular septum morphogenesis; ISS:BHF-UCL.
DR GO; GO:0070168; P:negative regulation of biomineral tissue development; ISS:BHF-UCL.
DR GO; GO:0010667; P:negative regulation of cardiac muscle cell apoptotic process; IEA:Ensembl.
DR GO; GO:2000723; P:negative regulation of cardiac vascular smooth muscle cell differentiation; ISS:BHF-UCL.
DR GO; GO:0010629; P:negative regulation of gene expression; ISS:UniProtKB.
DR GO; GO:0045746; P:negative regulation of Notch signaling pathway; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0010621; P:negative regulation of transcription by transcription factor localization; ISS:BHF-UCL.
DR GO; GO:2000820; P:negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; ISS:BHF-UCL.
DR GO; GO:0060633; P:negative regulation of transcription initiation from RNA polymerase II promoter; IDA:BHF-UCL.
DR GO; GO:2000678; P:negative regulation of transcription regulatory region DNA binding; IDA:BHF-UCL.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0061314; P:Notch signaling involved in heart development; TAS:BHF-UCL.
DR GO; GO:0007219; P:Notch signaling pathway; ISS:UniProtKB.
DR GO; GO:0003151; P:outflow tract morphogenesis; ISS:BHF-UCL.
DR GO; GO:0060045; P:positive regulation of cardiac muscle cell proliferation; IEA:Ensembl.
DR GO; GO:0010628; P:positive regulation of gene expression; ISS:BHF-UCL.
DR GO; GO:0010460; P:positive regulation of heart rate; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0065004; P:protein-DNA complex assembly; IEA:Ensembl.
DR GO; GO:0061156; P:pulmonary artery morphogenesis; ISS:BHF-UCL.
DR GO; GO:0003184; P:pulmonary valve morphogenesis; ISS:BHF-UCL.
DR GO; GO:0045607; P:regulation of inner ear auditory receptor cell differentiation; IEA:Ensembl.
DR GO; GO:0050767; P:regulation of neurogenesis; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:2001212; P:regulation of vasculogenesis; ISS:BHF-UCL.
DR GO; GO:0051145; P:smooth muscle cell differentiation; NAS:BHF-UCL.
DR GO; GO:0003195; P:tricuspid valve formation; IEA:Ensembl.
DR GO; GO:0003186; P:tricuspid valve morphogenesis; ISS:BHF-UCL.
DR GO; GO:0036304; P:umbilical cord morphogenesis; ISS:BHF-UCL.
DR GO; GO:0097084; P:vascular associated smooth muscle cell development; IEP:UniProtKB.
DR GO; GO:0001570; P:vasculogenesis; ISS:BHF-UCL.
DR GO; GO:0055015; P:ventricular cardiac muscle cell development; ISS:UniProtKB.
DR GO; GO:0060412; P:ventricular septum morphogenesis; ISS:BHF-UCL.
DR GO; GO:0003222; P:ventricular trabecula myocardium morphogenesis; IEA:Ensembl.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR003650; Orange_dom.
DR Pfam; PF07527; Hairy_orange; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SMART; SM00511; ORANGE; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
DR PROSITE; PS51054; ORANGE; 1.
PE 1: Evidence at protein level;
KW Developmental protein; DNA-binding; Notch signaling pathway; Nucleus;
KW Reference proteome; Repressor; Transcription; Transcription regulation.
FT CHAIN 1..337
FT /note="Hairy/enhancer-of-split related with YRPW motif
FT protein 2"
FT /id="PRO_0000245515"
FT DOMAIN 48..103
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT DOMAIN 122..157
FT /note="Orange"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00380"
FT REGION 1..52
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 47..116
FT /note="Transcriptional repression and interaction with
FT NCOR1 and SIN3A"
FT /evidence="ECO:0000250"
FT REGION 307..337
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 327..330
FT /note="YRPW motif"
FT COMPBIAS 19..48
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 307..327
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 96
FT /note="T -> A (in a patient with atrioventricular septal
FT defects; dbSNP:rs747221103)"
FT /evidence="ECO:0000269|PubMed:16329098"
FT /id="VAR_026974"
FT VARIANT 98
FT /note="D -> A (in a patient with atrioventricular septal
FT defects)"
FT /evidence="ECO:0000269|PubMed:16329098"
FT /id="VAR_026975"
FT VARIANT 100
FT /note="L -> S (in a patient with atrioventricular septal
FT defects)"
FT /evidence="ECO:0000269|PubMed:16329098"
FT /id="VAR_026976"
FT VARIANT 140
FT /note="V -> M (in dbSNP:rs3734638)"
FT /id="VAR_026977"
FT MUTAGEN 54
FT /note="G->P: Impairs transcriptional repression."
FT /evidence="ECO:0000269|PubMed:16293227"
SQ SEQUENCE 337 AA; 35808 MW; 71B7B1AA69BA88D2 CRC64;
MKRPCEETTS ESDMDETIDV GSENNYSGQS TSSVIRLNSP TTTSQIMARK KRRGIIEKRR
RDRINNSLSE LRRLVPTAFE KQGSAKLEKA EILQMTVDHL KMLQATGGKG YFDAHALAMD
FMSIGFRECL TEVARYLSSV EGLDSSDPLR VRLVSHLSTC ATQREAAAMT SSMAHHHHPL
HPHHWAAAFH HLPAALLQPN GLHASESTPC RLSTTSEVPP AHGSALLTAT FAHADSALRM
PSTGSVAPCV PPLSTSLLSL SATVHAAAAA ATAAAHSFPL SFAGAFPMLP PNAAAAVAAA
TAISPPLSVS ATSSPQQTSS GTNNKPYRPW GTEVGAF
