Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2016
Gene name Gene Name - the full gene name approved by the HGNC.
Empty spiracles homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EMX1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT447814 hsa-miR-100-3p PAR-CLIP 22100165
MIRT447813 hsa-miR-3125 PAR-CLIP 22100165
MIRT447812 hsa-miR-3916 PAR-CLIP 22100165
MIRT447811 hsa-miR-6859-5p PAR-CLIP 22100165
MIRT447810 hsa-miR-3928-3p PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001701 Process In utero embryonic development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600034 3340 ENSG00000135638
Protein
UniProt ID Q04741
Protein name Homeobox protein EMX1 (Empty spiracles homolog 1) (Empty spiracles-like protein 1)
Protein function Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous syste
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 160 216 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Cerebral cortex.
Sequence
MFQPAAKRGFTIESLVAKDGGTGGGTGGGGAGSHLLAAAASEEPLRPTALNYPHPSAAEA
AFVSGFPAAAAAGAGRSLYGGPELVFPEAMNHPALTVHPAHQLGASPLQPPHSFFGAQHR
DPLHFYPWVLRNRFFGHRFQASDVPQDGLLLHGPFARKPKRIRTAFSPSQLLRLERAFEK
NHYVVGAERKQLAGSLSLSETQVKVWFQNRRTKYKR
QKLEEEGPESEQKKKGSHHINRWR
IATKQANGEDIDVTSND
Sequence length 257
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
28991256, 30285260, 26198764
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 38007497
Carcinoma Hepatocellular Associate 30168613, 38007497, 38062093
Cell Transformation Neoplastic Inhibit 34364391
Digestive System Diseases Associate 38007497
Keratoderma Palmoplantar Associate 30168613
Neoplasm Metastasis Associate 38007497
Neoplasms Inhibit 34364391
Sarcoma Inhibit 34364391