Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2019
Gene name Gene Name - the full gene name approved by the HGNC.
Engrailed homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EN1
Synonyms (NCBI Gene) Gene synonyms aliases
ENDOVESLB
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ENDOVESLB
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.2
Summary Summary of gene provided in NCBI Entrez Gene.
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. Differe
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT493975 hsa-miR-6746-5p PAR-CLIP 20371350
MIRT493974 hsa-miR-3960 PAR-CLIP 20371350
MIRT493973 hsa-miR-8072 PAR-CLIP 20371350
MIRT493972 hsa-miR-4746-3p PAR-CLIP 20371350
MIRT493971 hsa-miR-139-3p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 21672318
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 21672318
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
131290 3342 ENSG00000163064
Protein
UniProt ID Q05925
Protein name Homeobox protein engrailed-1 (Homeobox protein en-1) (Hu-En-1)
Protein function Required for proper formation of the apical ectodermal ridge and correct dorsal-ventral patterning in the limb.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 304 360 Homeodomain Domain
PF10525 Engrail_1_C_sig 361 391 Engrailed homeobox C-terminal signature domain Domain
Sequence
MEEQQPEPKSQRDSALGAAAAATPGGLSLSLSPGASGSSGSGSDGDSVPVSPQPAPPSPP
AAPCLPPLAHHPHLPPHPPPPPPQHLAAPAHQPQPAAQLHRTTNFFIDNILRPDFGCKKE
QPPPQLLVAAAARGGAGGGGRVERDRGQTAAGRDPVHPLGTRAPGAASLLCAPDANCGPP
DGSQPAAAGAGASKAGNPAAAAAAAAAAVAAAAAAAAAKPSDTGGGGSGGGAGSPGAQGT
KYPEHGNPAILLMGSANGGPVVKTDSQQPLVWPAWVYCTRYSDRPSSGPRTRKLKKKKNE
KEDKRPRTAFTAEQLQRLKAEFQANRYITEQRRQTLAQELSLNESQIKIWFQNKRAKIKK
ATGIKNGLALHLMAQGLYNHSTTTVQDKDESE
Sequence length 392
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 16762588
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
18698228
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 19384295
Brain Neoplasms Stimulate 31239270
Breast Neoplasms Associate 24141779, 29333926, 34287743
Carcinoma Adenoid Cystic Associate 21692051, 21800291, 26953815
Colorectal Neoplasms Associate 18403637, 19384295
Death Inhibit 24141779
Disease Associate 19384295
Inflammation Associate 24141779
Lesch Nyhan Syndrome Associate 40710358
Neoplasm Metastasis Associate 31239270