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P19622 (HME2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein engrailed-2

Short name=Homeobox protein en-2
Short name=Hu-En-2
Gene names
Name:EN2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length333 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Nucleus.

Involvement in disease

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

Sequence similarities

Belongs to the engrailed homeobox family.

Contains 1 homeobox DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 333333Homeobox protein engrailed-2
PRO_0000196067

Regions

DNA binding244 – 30360Homeobox

Natural variations

Natural variant1211L → F.
Corresponds to variant rs3735653 [ dbSNP | Ensembl ].
VAR_021985

Sequences

Sequence LengthMass (Da)Tools
P19622 [UniParc].

Last modified July 11, 2002. Version 3.
Checksum: ACF5399E383D6257

FASTA33334,211
        10         20         30         40         50         60 
MEENDPKPGE AAAAVEGQRQ PESSPGGGSG GGGGSSPGEA DTGRRRALML PAVLQAPGNH 

        70         80         90        100        110        120 
QHPHRITNFF IDNILRPEFG RRKDAGTCCA GAGGGRGGGA GGEGGASGAE GGGGAGGSEQ 

       130        140        150        160        170        180 
LLGSGSREPR QNPPCAPGAG GPLPAAGSDS PGDGEGGSKT LSLHGGAKKG GDPGGPLDGS 

       190        200        210        220        230        240 
LKARGLGGGD LSVSSDSDSS QAGANLGAQP MLWPAWVYCT RYSDRPSSGP RSRKPKKKNP 

       250        260        270        280        290        300 
NKEDKRPRTA FTAEQLQRLK AEFQTNRYLT EQRRQSLAQE LSLNESQIKI WFQNKRAKIK 

       310        320        330 
KATGNKNTLA VHLMAQGLYN HSTTAKEGKS DSE 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS5940.1.
PIRE48423.
RefSeqNP_001418.2. NM_001427.3.
UniGeneHs.134989.

3D structure databases

ProteinModelPortalP19622.
SMRP19622. Positions 223-305.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108335. 1 interaction.
STRING9606.ENSP00000297375.

PTM databases

PhosphoSiteP19622.

Polymorphism databases

DMDM21903415.

Proteomic databases

PaxDbP19622.
PRIDEP19622.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297375; ENSP00000297375; ENSG00000164778.
GeneID2020.
KEGGhsa:2020.
UCSCuc003wmb.3. human.

Organism-specific databases

CTD2020.
GeneCardsGC07P155250.
HGNCHGNC:3343. EN2.
HPACAB025088.
MIM131310. gene.
neXtProtNX_P19622.
Orphanet106. Autism.
PharmGKBPA27780.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306728.
HOGENOMHOG000247054.
HOVERGENHBG005975.
InParanoidP19622.
KOK09319.
OMASRPNPAC.
OrthoDBEOG7VTDN8.
PhylomeDBP19622.
TreeFamTF106461.

Gene expression databases

BgeeP19622.
CleanExHS_EN2.
GenevestigatorP19622.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR019549. 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]
PfamPF10525. Engrail_1_C_sig. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00026. ENGRAILED.
PR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00033. ENGRAILED. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiEN2_(gene).
GenomeRNAi2020.
NextBio8185.
PROP19622.
SOURCESearch...

Entry information

Entry nameHME2_HUMAN
AccessionPrimary (citable) accession number: P19622
Secondary accession number(s): A4D252, Q549U3, Q9UD58
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: July 11, 2002
Last modified: July 9, 2014
This is version 130 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM