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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
q14.2
Chromosome location (bp)
118842171 - 118847648
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Required for proper formation of the apical ectodermal ridge and correct dorsal-ventral patterning in the limb....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q05925 [Direct mapping] Homeobox protein engrailed-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007275[multicellular organism development] GO:0008344[adult locomotory behavior] GO:0009653[anatomical structure morphogenesis] GO:0009953[dorsal/ventral pattern formation] GO:0009954[proximal/distal pattern formation] GO:0010468[regulation of gene expression] GO:0016020[membrane] GO:0021549[cerebellum development] GO:0030182[neuron differentiation] GO:0030326[embryonic limb morphogenesis] GO:0030901[midbrain development] GO:0030902[hindbrain development] GO:0030917[midbrain-hindbrain boundary development] GO:0035115[embryonic forelimb morphogenesis] GO:0035176[social behavior] GO:0035264[multicellular organism growth] GO:0042220[response to cocaine] GO:0042756[drinking behavior] GO:0043473[pigmentation] GO:0043524[negative regulation of neuron apoptotic process] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048666[neuron development] GO:0060173[limb development] GO:0061743[motor learning] GO:0071542[dopaminergic neuron differentiation] GO:1901215[negative regulation of neuron death] GO:1990403[embryonic brain development] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
