Gene Gene information from NCBI Gene database.
Entrez ID 94103
Gene name ORMDL sphingolipid biosynthesis regulator 3
Gene symbol ORMDL3
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q21.1
miRNA miRNA information provided by mirtarbase database.
786
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
STAT6 Unknown 23461825
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: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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610075 16038 ENSG00000172057
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ASTHMA CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA GWAS catalog
★★☆☆☆
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
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 23157251
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 21072187, 24219690
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 26603569, 29879314
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 29193869, 35545678 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 17611496, 18155279, 18310477, 18395550, 18760456
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 17611496, 18310477, 18439551, 19732864, 20182505, 20372189, 20503266, 21072187, 21103062, 21150878, 21985515, 22069270, 22271045, 22561531, 22694930
View all (39 more)
Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma BEFREE 18310477, 18395550, 18690379, 19133921, 19732864, 19819884, 20176270, 20372189, 20425513, 21072187, 21150878, 21276132, 21682736, 21985515, 22017802
View all (52 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma CTD_human_DG 21150878, 25256354
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma GWASDB_DG 21804549
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis BEFREE 26603569, 29879314
★☆☆☆☆
Found in Text Mining only