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ORMDL3 (ORMDL sphingolipid biosynthesis regulator 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
94103
Gene nameGene Name - the full gene name approved by the HGNC.
ORMDL sphingolipid biosynthesis regulator 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ORMDL3
SynonymsGene synonyms aliases
-
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.1
miRNAmiRNA 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 IMP 28747345
GO:0005515 Function Protein binding IPI 20182505, 32296183
GO:0005783 Component Endoplasmic reticulum IDA 12093374
GO:0005886 Component Plasma membrane TAS
GO:0006672 Process Ceramide metabolic process IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 153
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Sphingolipid de novo biosynthesis
Neutrophil degranulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma, Childhood asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 21150878, 21804549, 25256354, 17611496
Unknown
Disease name Disease term dbSNP ID References
Biliary cirrhosis Primary biliary cirrhosis 22961000
Ulcerative colitis Ulcerative Colitis 20228799

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