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P19622

- HME2_HUMAN

UniProt

P19622 - HME2_HUMAN

Protein

Homeobox protein engrailed-2

Gene

EN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 3 (11 Jul 2002)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi244 – 30360HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. hindbrain development Source: Ensembl
    2. midbrain development Source: Ensembl
    3. multicellular organismal development Source: ProtInc
    4. neuron development Source: Ensembl
    5. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein engrailed-2
    Short name:
    Homeobox protein en-2
    Short name:
    Hu-En-2
    Gene namesi
    Name:EN2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:3343. EN2.

    Subcellular locationi

    GO - Cellular componenti

    1. membrane Source: Ensembl
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Genetic variations in EN2 may be associated with susceptibility to autism.

    Organism-specific databases

    Orphaneti106. Autism.
    PharmGKBiPA27780.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 333333Homeobox protein engrailed-2PRO_0000196067Add
    BLAST

    Proteomic databases

    PaxDbiP19622.
    PRIDEiP19622.

    PTM databases

    PhosphoSiteiP19622.

    Expressioni

    Gene expression databases

    BgeeiP19622.
    CleanExiHS_EN2.
    GenevestigatoriP19622.

    Organism-specific databases

    HPAiCAB025088.

    Interactioni

    Protein-protein interaction databases

    BioGridi108335. 1 interaction.
    STRINGi9606.ENSP00000297375.

    Structurei

    3D structure databases

    ProteinModelPortaliP19622.
    SMRiP19622. Positions 223-305.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the engrailed homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG306728.
    HOGENOMiHOG000247054.
    HOVERGENiHBG005975.
    InParanoidiP19622.
    KOiK09319.
    OMAiSRPNPAC.
    OrthoDBiEOG7VTDN8.
    PhylomeDBiP19622.
    TreeFamiTF106461.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR019549. Homeobox-engrailed_C-terminal.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000747. Homeodomain_engrailed.
    IPR019737. Homoebox-engrailed_CS.
    [Graphical view]
    PfamiPF10525. Engrail_1_C_sig. 1 hit.
    PF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00026. ENGRAILED.
    PR00024. HOMEOBOX.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00033. ENGRAILED. 1 hit.
    PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P19622-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEENDPKPGE AAAAVEGQRQ PESSPGGGSG GGGGSSPGEA DTGRRRALML    50
    PAVLQAPGNH QHPHRITNFF IDNILRPEFG RRKDAGTCCA GAGGGRGGGA 100
    GGEGGASGAE GGGGAGGSEQ LLGSGSREPR QNPPCAPGAG GPLPAAGSDS 150
    PGDGEGGSKT LSLHGGAKKG GDPGGPLDGS LKARGLGGGD LSVSSDSDSS 200
    QAGANLGAQP MLWPAWVYCT RYSDRPSSGP RSRKPKKKNP NKEDKRPRTA 250
    FTAEQLQRLK AEFQTNRYLT EQRRQSLAQE LSLNESQIKI WFQNKRAKIK 300
    KATGNKNTLA VHLMAQGLYN HSTTAKEGKS DSE 333
    Length:333
    Mass (Da):34,211
    Last modified:July 11, 2002 - v3
    Checksum:iACF5399E383D6257
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti121 – 1211L → F.
    Corresponds to variant rs3735653 [ dbSNP | Ensembl ].
    VAR_021985

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L12701, L12700 Genomic DNA. Translation: AAA53504.2.
    AC008060 Genomic DNA. Translation: AAQ96875.1.
    CH236954 Genomic DNA. Translation: EAL23909.1.
    BC104970 mRNA. Translation: AAI04971.1.
    BC104972 mRNA. Translation: AAI04973.1.
    J03066 Genomic DNA. Translation: AAF68670.1.
    CCDSiCCDS5940.1.
    PIRiE48423.
    RefSeqiNP_001418.2. NM_001427.3.
    UniGeneiHs.134989.

    Genome annotation databases

    EnsembliENST00000297375; ENSP00000297375; ENSG00000164778.
    GeneIDi2020.
    KEGGihsa:2020.
    UCSCiuc003wmb.3. human.

    Polymorphism databases

    DMDMi21903415.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L12701 , L12700 Genomic DNA. Translation: AAA53504.2 .
    AC008060 Genomic DNA. Translation: AAQ96875.1 .
    CH236954 Genomic DNA. Translation: EAL23909.1 .
    BC104970 mRNA. Translation: AAI04971.1 .
    BC104972 mRNA. Translation: AAI04973.1 .
    J03066 Genomic DNA. Translation: AAF68670.1 .
    CCDSi CCDS5940.1.
    PIRi E48423.
    RefSeqi NP_001418.2. NM_001427.3.
    UniGenei Hs.134989.

    3D structure databases

    ProteinModelPortali P19622.
    SMRi P19622. Positions 223-305.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108335. 1 interaction.
    STRINGi 9606.ENSP00000297375.

    PTM databases

    PhosphoSitei P19622.

    Polymorphism databases

    DMDMi 21903415.

    Proteomic databases

    PaxDbi P19622.
    PRIDEi P19622.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297375 ; ENSP00000297375 ; ENSG00000164778 .
    GeneIDi 2020.
    KEGGi hsa:2020.
    UCSCi uc003wmb.3. human.

    Organism-specific databases

    CTDi 2020.
    GeneCardsi GC07P155250.
    HGNCi HGNC:3343. EN2.
    HPAi CAB025088.
    MIMi 131310. gene.
    neXtProti NX_P19622.
    Orphaneti 106. Autism.
    PharmGKBi PA27780.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306728.
    HOGENOMi HOG000247054.
    HOVERGENi HBG005975.
    InParanoidi P19622.
    KOi K09319.
    OMAi SRPNPAC.
    OrthoDBi EOG7VTDN8.
    PhylomeDBi P19622.
    TreeFami TF106461.

    Miscellaneous databases

    GeneWikii EN2_(gene).
    GenomeRNAii 2020.
    NextBioi 8185.
    PROi P19622.
    SOURCEi Search...

    Gene expression databases

    Bgeei P19622.
    CleanExi HS_EN2.
    Genevestigatori P19622.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR019549. Homeobox-engrailed_C-terminal.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000747. Homeodomain_engrailed.
    IPR019737. Homoebox-engrailed_CS.
    [Graphical view ]
    Pfami PF10525. Engrail_1_C_sig. 1 hit.
    PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00026. ENGRAILED.
    PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00033. ENGRAILED. 1 hit.
    PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions."
      Logan C., Hanks M.C., Noble-Topham S., Nallainathan D., Provart N.J., Joyner A.L.
      Dev. Genet. 13:345-358(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. Logan C., Hanks M.C., Noble-Topham S., Nallainathan D., Provart N.J., Joyner A.L.
      Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION TO 229.
    3. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
      Tissue: Brain.
    6. "Isolation and chromosomal localization of the human En-2 gene."
      Poole S.J., Law M.L., Kao F.T., Lau Y.-F.C.
      Genomics 4:225-231(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 230-333.
    7. "Identification of homeobox genes expressed in human haemopoietic progenitor cells."
      Moretti P., Simmons P., Thomas P., Haylock D., Rathjen P., Vadas M., D'Andrea R.
      Gene 144:213-219(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 252-290.
      Tissue: Bone marrow.
    8. "Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus."
      Benayed R., Gharani N., Rossman I., Mancuso V., Lazar G., Kamdar S., Bruse S.E., Tischfield S., Smith B.J., Zimmerman R.A., DiCicco-Bloom E., Brzustowicz L.M., Millonig J.H.
      Am. J. Hum. Genet. 77:851-868(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO AUTISM.

    Entry informationi

    Entry nameiHME2_HUMAN
    AccessioniPrimary (citable) accession number: P19622
    Secondary accession number(s): A4D252, Q549U3, Q9UD58
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1991
    Last sequence update: July 11, 2002
    Last modified: October 1, 2014
    This is version 131 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3