P19622 (HME2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein engrailed-2
Short name=Homeobox protein en-2
Short name=Hu-En-2

Gene names

Name:

EN2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	333 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	hindbrain development Inferred from electronic annotation. Source: Compara midbrain development Inferred from electronic annotation. Source: Compara multicellular organismal development Traceable author statement PubMed 1672471. Source: ProtInc neuron development Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara
Cellular_component	membrane Inferred from electronic annotation. Source: Compara nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 333	333	Homeobox protein engrailed-2		PRO_0000196067
Regions
	DNA binding	244 – 303	60	Homeobox
Natural variations
	Natural variant	121	1	L → F. Corresponds to variant rs3735653 [ dbSNP | Ensembl ].		VAR_021985

Sequences

	Sequence		Length	Mass (Da)
	P19622 [UniParc]. Last modified July 11, 2002. Version 3. Checksum: ACF5399E383D6257	FASTA	333	34,211
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00020031.
PIR	E48423.
RefSeq	NP_001418.2. NM_001427.3.
UniGene	Hs.134989.
3D structure databases
ProteinModelPortal	P19622.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000297375.
PTM databases
PhosphoSite	P19622.
Polymorphism databases
DMDM	21903415.
Proteomic databases
PaxDb	P19622.
PRIDE	P19622.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000297375; ENSP00000297375; ENSG00000164778.
GeneID	2020.
KEGG	hsa:2020.
UCSC	uc003wmb.3. human.
Organism-specific databases
CTD	2020.
GeneCards	GC07P155250.
HGNC	HGNC:3343. EN2.
HPA	CAB025088.
MIM	131310. gene.
neXtProt	NX_P19622.
Orphanet	106. Autism.
PharmGKB	PA27780.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG306728.
HOGENOM	HOG000247054.
HOVERGEN	HBG005975.
InParanoid	P19622.
KO	K09319.
OMA	HRVTNFF.
OrthoDB	EOG4H72D0.
PhylomeDB	P19622.
Gene expression databases
Bgee	P19622.
CleanEx	HS_EN2.
Genevestigator	P19622.
GermOnline	ENSG00000164778. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR019549. Homeobox-engrailed_C-terminal. IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR000747. Homeodomain_engrailed. IPR019737. Homoebox-engrailed_CS. [Graphical view]
Pfam	PF10525. Engrail_1_C_sig. 1 hit. PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00026. ENGRAILED. PR00024. HOMEOBOX.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00033. ENGRAILED. 1 hit. PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	2020.
NextBio	8185.
SOURCE	Search...

Entry information

Entry name

HME2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 122 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.