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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism, susceptibility to, 10 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 29963129
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia Pubtator 27251476 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 16252243, 28081867 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 15024396, 16252243, 19615670, 20050924, 27755371, 28343438, 29953887, 29964155, 30980901
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder CTD_human_DG 25290267
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism LHGDN 15024396
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism CTD_human_DG 15024396, 16935268, 19186208, 20523082
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism BEFREE 15749247, 16252243, 17948868, 17948901, 18424904, 20050924, 20523082, 22522212, 23423141, 25290267, 30980901
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 23423141, 25290267 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 25812440
★☆☆☆☆
Found in Text Mining only