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Protein

Homeobox protein engrailed-2

Gene

EN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Regions

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

GO - Molecular functioni

  1. sequence-specific DNA binding 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
Complete GO annotation...

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 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:3343. EN2.

Subcellular locationi

GO - Cellular componenti

  1. membrane Source: Ensembl
  2. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

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.

Polymorphism and mutation databases

BioMutaiEN2.
DMDMi21903415.

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.
GeneTreeiENSGT00780000121984.
HOGENOMiHOG000247054.
HOVERGENiHBG005975.
InParanoidiP19622.
KOiK09319.
OMAiRESHNSP.
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

        10         20         30         40         50
MEENDPKPGE AAAAVEGQRQ PESSPGGGSG GGGGSSPGEA DTGRRRALML
60 70 80 90 100
PAVLQAPGNH QHPHRITNFF IDNILRPEFG RRKDAGTCCA GAGGGRGGGA
110 120 130 140 150
GGEGGASGAE GGGGAGGSEQ LLGSGSREPR QNPPCAPGAG GPLPAAGSDS
160 170 180 190 200
PGDGEGGSKT LSLHGGAKKG GDPGGPLDGS LKARGLGGGD LSVSSDSDSS
210 220 230 240 250
QAGANLGAQP MLWPAWVYCT RYSDRPSSGP RSRKPKKKNP NKEDKRPRTA
260 270 280 290 300
FTAEQLQRLK AEFQTNRYLT EQRRQSLAQE LSLNESQIKI WFQNKRAKIK
310 320 330
KATGNKNTLA VHLMAQGLYN HSTTAKEGKS DSE
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:
EMBLi
GenBanki
DDBJi
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 and mutation databases

BioMutaiEN2.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi108335. 1 interaction.
STRINGi9606.ENSP00000297375.

PTM databases

PhosphoSiteiP19622.

Polymorphism and mutation databases

BioMutaiEN2.
DMDMi21903415.

Proteomic databases

PaxDbiP19622.
PRIDEiP19622.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2020.
GeneCardsiGC07P155250.
HGNCiHGNC:3343. EN2.
HPAiCAB025088.
MIMi131310. gene.
neXtProtiNX_P19622.
Orphaneti106. Autism.
PharmGKBiPA27780.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG306728.
GeneTreeiENSGT00780000121984.
HOGENOMiHOG000247054.
HOVERGENiHBG005975.
InParanoidiP19622.
KOiK09319.
OMAiRESHNSP.
OrthoDBiEOG7VTDN8.
PhylomeDBiP19622.
TreeFamiTF106461.

Miscellaneous databases

GeneWikiiEN2_(gene).
GenomeRNAii2020.
NextBioi8185.
PROiP19622.
SOURCEiSearch...

Gene expression databases

BgeeiP19622.
CleanExiHS_EN2.
GenevestigatoriP19622.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: April 29, 2015
This is version 135 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.