ORMDL3 - ORMDL sphingolipid biosynthesis regulator 3 Gene

Homo sapiens

Gene ID: 94103 | Gene type: protein coding

About ORMDL3

Cytogenetic location: 17q21.1 Genomic coordinates (GRCh38): 17:39,921,041-39,927,601 (from NCBI)

This gene has 8 transcripts (splice variants), 200 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 53.9), liver (RPKM 33.4) and 25 other tissues.

Summary

Involved in ceramide metabolic process. Acts upstream of or within several processes, including negative regulation of B cell apoptotic process; negative regulation of ceramide biosynthetic process; and positive regulation of protein localization to nucleus. Located in endoplasmic reticulum. Part of SPOTS complex. [provided by Alliance of Genome Resources, Apr 2022]

ORMDL3 Products(4)

mRNA	Protein	Name
NM_001320801.2	NP_001307730.1	ORM1-like protein 3
NM_001320802.2	NP_001307731.1	ORM1-like protein 3
NM_001320803.1	NP_001307732.1	ORM1-like protein 3
NM_139280.4	NP_644809.1	ORM1-like protein 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20182505	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ceramide metabolic process	IMP IMP: Inferred from mutant phenotype	20182505	GOA
acts upstream of or within negative regulation of B cell apoptotic process	IMP IMP: Inferred from mutant phenotype	28747345	GOA
acts upstream of or within negative regulation of ceramide biosynthetic process	IMP IMP: Inferred from mutant phenotype	25691431	GOA
acts upstream of or within positive regulation of autophagy	IDA IDA: Inferred from direct assay	28747345	GOA
acts upstream of or within positive regulation of autophagy	IMP IMP: Inferred from mutant phenotype	28747345	GOA
acts upstream of or within positive regulation of protein localization to nucleus	IDA IDA: Inferred from direct assay	28747345	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12093374	GOA
part of serine palmitoyltransferase complex	IDA IDA: Inferred from direct assay	20182505	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ORMDL3 Protein Structure

ORMDL

0
100
153 a.a.

Protein Preferred Names

Protein Names

ORM1-like protein 3

Related Diseases

Diseases

Alias

Asthma

Chronic Obstructive Asthma	Asthma, Diminished Response To Antileukotriene Treatment In
Bronchial Hyperreactivity	Asthma, Susceptibility To
Asthma, Bronchial	Asthma, Protection Against
Asthma, Nocturnal, Susceptibility To	Nocturnal Asthma
Asthma-Related Traits	Asthma-Related Traits, Susceptibility To
Asthma, Nocturnal	Chronic Obstructive Asthma With Acute Exacerbation
Chronic Obstructive Asthma With Status Asthmaticus	Exercise Induced Asthma
Exercise-Induced Asthma	Bronchial Asthma
Asthma, Exercise-Induced	Idiosyncratic Asthma
Unspecified Asthma With Acute Exacerbation	Asthma, Unspecified, With Stated Status Asthmaticus
Status Asthmaticus Nos	Acute Severe Asthma
Acute Severe Bronchial Asthma	Status Asthma
Status Post Asthmaticus

Ileocolitis

Iieocolitis

Chronic Asthma

Inflammatory Bowel Disease 22

IBD22

Childhood-Onset Asthma

Childhood Asthma

Asthma Childhood

Intrinsic Asthma

Non-Atopic Asthma

Occupational Asthma

Environmental Induced Asthma

Irritant Asthma

Retinitis Pigmentosa 26

RP26	Retinitis Pigmentosa-26
Retinitis Pigmentosa, Type 26

Bronchial Disease

Bronchial Diseases	Bronchial Disorders
Bronchial Spasm

Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome	Nephrotic Syndrome 14
NPHS14	Splis
Nephrotic Syndrome Type 14	Sgpl1 Deficiency
Steroid-Resistant Nephrotic Syndrome Type 14	Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09833	ORMDL3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ORMDL3	VGNC	VGNC:44147
Felis catus	ORMDL3	VGNC	VGNC:63974
Bos taurus	ORMDL3	VGNC	VGNC:32454
Rattus norvegicus	ORMDL3	RGD	RGD:1560577
Mus musculus	ORMDL3	MGD	MGI:1913862
Macaca mulatta	ORMDL3	VGNC	VGNC:75617

Name
Email *

	Sorry, but the email address you supplied was invalid.