Gene Gene information from NCBI Gene database.
Entrez ID 2020
Gene name Engrailed homeobox 2
Gene symbol EN2
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7q36.3
Summary 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.
543
miRTarBase ID miRNA Experiments Reference
MIRT027200 hsa-miR-103a-3p Sequencing 20371350
MIRT032001 hsa-miR-16-5p Sequencing 20371350
MIRT051493 hsa-let-7e-5p CLASH 23622248
MIRT043555 hsa-miR-331-3p CLASH 23622248
MIRT037416 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS 12642491
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS 12642491
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131310 3343 ENSG00000164778
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19622
Protein name Homeobox protein engrailed-2 (Homeobox protein en-2) (Hu-En-2)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 245 301 Homeodomain Domain
PF10525 Engrail_1_C_sig 302 332 Engrailed homeobox C-terminal signature domain Domain
Sequence
MEENDPKPGEAAAAVEGQRQPESSPGGGSGGGGGSSPGEADTGRRRALMLPAVLQAPGNH
QHPHRITNFFIDNILRPEFGRRKDAGTCCAGAGGGRGGGAGGEGGASGAEGGGGAGGSEQ
LLGSGSREPRQNPPCAPGAGGPLPAAGSDSPGDGEGGSKTLSLHGGAKKGGDPGGPLDGS
LKARGLGGGDLSVSSDSDSSQAGANLGAQPMLWPAWVYCTRYSDRPSSGPRSRKPKKKNP
NKEDKRPRTAFTAEQLQRLKAEFQTNRYLTEQRRQSLAQELSLNESQIKIWFQNKRAKIK
K
ATGNKNTLAVHLMAQGLYNHSTTAKEGKSDSE
Sequence length 333
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism, susceptibility to, 10 Uncertain significance rs1861972, rs1861973 RCV000018110
RCV000018111
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aphasia Associate 27251476
Autism Spectrum Disorder Associate 16252243, 28081867
Autistic Disorder Associate 23423141, 25290267
Breast Neoplasms Associate 24786097
Carcinoma Ovarian Epithelial Associate 30285763
Carcinoma Renal Cell Associate 24786097
Cerebellar Diseases Associate 23423141
Colorectal Neoplasms Associate 33685351, 35169223
Cytomegalovirus Infections Associate 28343438
Developmental Disabilities Associate 27251476