ID HME2_HUMAN Reviewed; 333 AA. AC P19622; A4D252; Q549U3; DT 01-FEB-1991, integrated into UniProtKB/Swiss-Prot. DT 11-JUL-2002, sequence version 3. DT 22-SEP-2009, entry version 87. DE RecName: Full=Homeobox protein engrailed-2; DE AltName: Full=Hu-En-2; GN Name=EN2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=93185339; PubMed=1363401; DOI=10.1002/dvg.1020130505; RA Logan C., Hanks M.C., Noble-Topham S., Nallainathan D., Provart N.J., RA Joyner A.L.; RT "Cloning and sequence comparison of the mouse, human, and chicken RT engrailed genes reveal potential functional domains and regulatory RT regions."; RL Dev. Genet. 13:345-358(1992). RN [2] RP SEQUENCE REVISION TO 229. RA Logan C., Hanks M.C., Noble-Topham S., Nallainathan D., Provart N.J., RA Joyner A.L.; RL Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX MEDLINE=22737999; PubMed=12853948; DOI=10.1038/nature01782; RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., RA Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., RA Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., RA Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., RA Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., RA Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., RA Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., RA Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., RA Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., RA Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., RA Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., RA Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., RA Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., RA Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., RA Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., RA Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., RA Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., RA Waterston R.H., Wilson R.K.; RT "The DNA sequence of human chromosome 7."; RL Nature 424:157-164(2003). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX MEDLINE=22616434; PubMed=12690205; DOI=10.1126/science.1083423; RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., RA Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., RA Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., RA Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., RA Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., RA Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., RA Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., RA Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., RA Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., RA Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., RA Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., RA Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., RA Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., RA Mural R.J., Adams M.D., Tsui L.-C.; RT "Human chromosome 7: DNA sequence and biology."; RL Science 300:767-772(2003). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 230-333. RX MEDLINE=89233109; PubMed=2565873; DOI=10.1016/0888-7543(89)90324-8; RA Poole S.J., Law M.L., Kao F.T., Lau Y.-F.C.; RT "Isolation and chromosomal localization of the human En-2 gene."; RL Genomics 4:225-231(1989). RN [7] RP INVOLVEMENT IN SUSCEPTIBILITY TO AUTS10. RX PubMed=16252243; DOI=10.1086/497705; RA Benayed R., Gharani N., Rossman I., Mancuso V., Lazar G., Kamdar S., RA Bruse S.E., Tischfield S., Smith B.J., Zimmerman R.A., RA DiCicco-Bloom E., Brzustowicz L.M., Millonig J.H.; RT "Support for the homeobox transcription factor gene ENGRAILED 2 as an RT autism spectrum disorder susceptibility locus."; RL Am. J. Hum. Genet. 77:851-868(2005). CC -!- SUBCELLULAR LOCATION: Nucleus. CC -!- DISEASE: Genetic variations in EN2 may be associated with CC susceptibility to autism type 10 (AUTS10) [MIM:611016]. Autism is CC a neurodevelopmental disorder characterized by disturbance in CC language, perception and socialization. The disorder is CC classically defined by a triad of limited or absent verbal CC communication, a lack of reciprocal social interaction or CC responsiveness, and restricted, stereotypical and ritualized CC patterns of interests and behavior. CC -!- SIMILARITY: Belongs to the engrailed homeobox family. CC -!- SIMILARITY: Contains 1 homeobox DNA-binding domain. 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; L12701; AAA53504.2; -; Genomic_DNA. DR EMBL; L12700; AAA53504.2; JOINED; Genomic_DNA. DR EMBL; AC008060; AAQ96875.1; -; Genomic_DNA. DR EMBL; CH236954; EAL23909.1; -; Genomic_DNA. DR EMBL; BC104970; AAI04971.1; -; mRNA. DR EMBL; BC104972; AAI04973.1; -; mRNA. DR EMBL; J03066; AAF68670.1; -; Genomic_DNA. DR IPI; IPI00020031; -. DR PIR; E48423; E48423. DR RefSeq; NP_001418.2; -. DR UniGene; Hs.134989; -. DR HSSP; P02836; 3HDD. DR SMR; P19622; 246-301. DR STRING; P19622; -. DR PhosphoSite; P19622; -. DR PRIDE; P19622; -. DR Ensembl; ENST00000297375; ENSP00000297375; ENSG00000164778; Homo sapiens. DR GeneID; 2020; -. DR KEGG; hsa:2020; -. DR UCSC; uc003wmb.1; human. DR CTD; 2020; -. DR GeneCards; GC07P154942; -. DR HGNC; HGNC:3343; EN2. DR MIM; 131310; gene. DR MIM; 611016; phenotype. DR Orphanet; 106; Autism. DR PharmGKB; PA27780; -. DR HOGENOM; P19622; -. DR HOVERGEN; P19622; -. DR OMA; P19622; HPHRITN. DR NextBio; 8185; -. DR ArrayExpress; P19622; -. DR Bgee; P19622; -. DR CleanEx; HS_EN2; -. DR GermOnline; ENSG00000164778; Homo sapiens. DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell. DR GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro. DR GO; GO:0003700; F:transcription factor activity; IEA:InterPro. DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; IEA:InterPro. DR InterPro; IPR001356; Homeobox. DR InterPro; IPR000747; Homeobox-engrailed. DR InterPro; IPR019549; Homeobox-engrailed_C-terminal. DR InterPro; IPR017970; Homeobox_CS. DR InterPro; IPR020479; Homeobox_region. DR InterPro; IPR012287; Homeodomain-rel. DR InterPro; IPR015703; Homoebox-engrailed. DR InterPro; IPR019737; Homoebox-engrailed_CS. DR Gene3D; G3DSA:1.10.10.60; Homeodomain-rel; 1. DR PANTHER; PTHR19418:SF133; En_related; 1. DR Pfam; PF10525; Engrail_1_C_sig; 1. DR Pfam; PF00046; Homeobox; 1. DR PRINTS; PR00026; ENGRAILED. DR PRINTS; PR00024; HOMEOBOX. DR ProDom; PD000010; Homeobox; 1. DR SMART; SM00389; HOX; 1. DR PROSITE; PS00033; ENGRAILED; 1. DR PROSITE; PS00027; HOMEOBOX_1; 1. DR PROSITE; PS50071; HOMEOBOX_2; 1. PE 2: Evidence at transcript level; KW Complete proteome; Developmental protein; DNA-binding; Homeobox; KW Nucleus; Polymorphism. FT CHAIN 1 333 Homeobox protein engrailed-2. FT /FTId=PRO_0000196067. FT DNA_BIND 244 303 Homeobox. FT VARIANT 121 121 L -> F (in dbSNP:rs3735653). FT /FTId=VAR_021985. SQ SEQUENCE 333 AA; 34211 MW; ACF5399E383D6257 CRC64; MEENDPKPGE AAAAVEGQRQ PESSPGGGSG GGGGSSPGEA DTGRRRALML PAVLQAPGNH QHPHRITNFF IDNILRPEFG RRKDAGTCCA GAGGGRGGGA GGEGGASGAE GGGGAGGSEQ LLGSGSREPR QNPPCAPGAG GPLPAAGSDS PGDGEGGSKT LSLHGGAKKG GDPGGPLDGS LKARGLGGGD LSVSSDSDSS QAGANLGAQP MLWPAWVYCT RYSDRPSSGP RSRKPKKKNP NKEDKRPRTA FTAEQLQRLK AEFQTNRYLT EQRRQSLAQE LSLNESQIKI WFQNKRAKIK KATGNKNTLA VHLMAQGLYN HSTTAKEGKS DSE //