Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
93556
Gene name Gene Name - the full gene name approved by the HGNC.
EGF like and EMI domain containing 1, pseudogene
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EGFEM1P
Synonyms (NCBI Gene) Gene synonyms aliases
C3orf50, NCRNA00259
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005044 Function Scavenger receptor activity IEA
GO:0016192 Process Vesicle-mediated transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC 25149 N/A
Protein
UniProt ID Q0D2K5
Protein name Putative EGF-like and EMI domain-containing protein 1
Family and domains
Sequence
MDELRWYHITVCLDHIFGHNCSLSCKDCMNGGKCQEGKSECSCPAGCRVILCNENCLEGA
YGAGCTSECQCVEENTLECSAKNGSCTCKSGYQGNRCQKDGLWGPEGWFSSAPCENGGQC
NKKTGNCDCTPDYTRKSCTILRCISLTNLALSRRSSPMKYQQNVSSHREVRQRQQCSSDR
PFKKLLCKFSFKIGM
Sequence length 195
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Epilepsy Epilepsy N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30151992