Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
94103
Gene name Gene Name - the full gene name approved by the HGNC.
ORMDL sphingolipid biosynthesis regulator 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ORMDL3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050551 hsa-miR-20a-5p CLASH 23622248
MIRT655607 hsa-miR-1470 HITS-CLIP 23824327
MIRT655606 hsa-miR-4667-3p HITS-CLIP 23824327
MIRT655604 hsa-miR-6778-3p HITS-CLIP 23824327
MIRT145735 hsa-miR-6771-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
STAT6 Unknown 23461825
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002903 Process Negative regulation of B cell apoptotic process IEA
GO:0002903 Process Negative regulation of B cell apoptotic process IMP 28747345
GO:0005515 Function Protein binding IPI 20182505, 32296183, 33558761
GO:0005783 Component Endoplasmic reticulum IDA 12093374
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610075 16038 ENSG00000172057
Protein
UniProt ID Q8N138
Protein name ORM1-like protein 3
Protein function Plays an essential role in the homeostatic regulation of sphingolipid de novo biosynthesis by modulating the activity of the serine palmitoyltransferase (SPT) in response to ceramide levels (PubMed:20182505, PubMed:30700557, PubMed:37308477). Wh
PDB 6M4N , 6M4O , 7CQI , 7CQK , 7K0M , 7K0N , 7K0O , 7K0P , 7K0Q , 7YIU , 7YIY , 7YJ1 , 7YJ2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04061 ORMDL 11 146 ORMDL family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle and kidney. Expressed in adult pancreas and placenta and in fetal spleen and thymus. {ECO:0000269|PubMed:12093374}.
Sequence
Sequence length 153
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Sphingolipid de novo biosynthesis
Neutrophil degranulation
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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
Asthma Asthma (childhood onset) N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Airway Remodeling Associate 28192616
Arthritis Rheumatoid Associate 29193869, 35545678
Asthma Associate 17611496, 18310477, 18439551, 19732864, 20182505, 20372189, 20503266, 21072187, 21103062, 21150878, 21985515, 22069270, 22271045, 22561531, 22694930
View all (39 more)
Atherosclerosis Associate 26603569
Autoimmune Diseases Associate 19732864, 23461825, 27848966, 34872583
Breast Neoplasms Associate 30621577
Bronchial Diseases Associate 30644696
Bronchial Hyperreactivity Associate 31929190
Bronchiolitis Associate 26782568
Colitis Ulcerative Associate 20228799