2. Gene
  3. ORMDL3 - ORMDL sphingolipid biosynthesis regulator 3 Gene

ORMDL3 - ORMDL sphingolipid biosynthesis regulator 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

ORMDL: ORMDL family (11 - 146)

  • 0
  • 100
  • 153 a.a.
Protein Preferred Names Protein Names

ORM1-like protein 3

ORMDL3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ORMDL3 Q8N138 RETREG3 Homo sapiens Q86VR2
Y2H Array
32296183
Intra
ORMDL3 Q8N138 RETREG3 Homo sapiens Q86VR2
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 SPTLC1 Homo sapiens O15269
Anti Tag CoIP
20182505
Intra
ORMDL3 Q8N138 SPTLC1 Homo sapiens O15269
3D-EM
33558761
Intra
ORMDL3 Q8N138 TMEM237 Homo sapiens Q96Q45-2
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 TMEM237 Homo sapiens Q96Q45-2
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 TMEM237 Homo sapiens Q96Q45-2
Y2H Array
32296183
Intra
ORMDL3 Q8N138 REEP2 Homo sapiens Q9BRK0
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 REEP2 Homo sapiens Q9BRK0
Y2H Array
32296183
Intra
ORMDL3 Q8N138 REEP2 Homo sapiens Q9BRK0
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 ARL13B Homo sapiens Q3SXY8
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 ARL13B Homo sapiens Q3SXY8
Y2H Array
32296183
Intra
ORMDL3 Q8N138 AQP6 Homo sapiens Q13520
Y2H Array
32296183
Intra
ORMDL3 Q8N138 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 GPR152 Homo sapiens Q8TDT2
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 GPR152 Homo sapiens Q8TDT2
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 GPR152 Homo sapiens Q8TDT2
Y2H Array
32296183
Intra
ORMDL3 Q8N138 C10orf67 Homo sapiens Q8IYJ2-2
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 C10orf67 Homo sapiens Q8IYJ2-2
Y2H Array
32296183
Intra
ORMDL3 Q8N138 SLC35C2 Homo sapiens Q9NQQ7-3
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 SLC35C2 Homo sapiens Q9NQQ7-3
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 SLC35C2 Homo sapiens Q9NQQ7-3
Y2H Array
32296183
Intra
ORMDL3 Q8N138 GPR101 Homo sapiens Q96P66
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 GPR101 Homo sapiens Q96P66
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 GPR101 Homo sapiens Q96P66
Y2H Array
32296183
Intra
ORMDL3 Q8N138 HSD17B13 Homo sapiens Q7Z5P4
Y2H Array
32296183
Intra
ORMDL3 Q8N138 HSD17B13 Homo sapiens Q7Z5P4
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 CERS3 Homo sapiens Q8IU89
Y2H Array
32296183
Intra
ORMDL3 Q8N138 CERS3 Homo sapiens Q8IU89
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 ELOVL4 Homo sapiens Q9GZR5
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 ELOVL4 Homo sapiens Q9GZR5
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 ELOVL4 Homo sapiens Q9GZR5
Y2H Array
32296183
Intra
ORMDL3 Q8N138 GET1 Homo sapiens O00258
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 GET1 Homo sapiens O00258
Y2H Array
32296183
Intra
ORMDL3 Q8N138 RNF5 Homo sapiens Q99942
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 RNF5 Homo sapiens Q99942
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 RNF5 Homo sapiens Q99942
Y2H Array
32296183
Intra
ORMDL3 Q8N138 EBP Homo sapiens Q15125
Y2H Array
32296183
Intra
ORMDL3 Q8N138 EBP Homo sapiens Q15125
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 SLC10A1 Homo sapiens Q14973
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 SLC10A1 Homo sapiens Q14973
Y2H Array
32296183
Intra
ORMDL3 Q8N138 MTIF3 Homo sapiens Q9H2K0
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 MTIF3 Homo sapiens Q9H2K0
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 MTIF3 Homo sapiens Q9H2K0
Y2H Array
32296183
Intra
ORMDL3 Q8N138 KCNK5 Homo sapiens O95279
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 KCNK5 Homo sapiens O95279
Y2H Array
32296183
Intra
ORMDL3 Q8N138 SLC7A1 Homo sapiens P30825
Y2H Array
32296183
Intra
ORMDL3 Q8N138 SLC7A1 Homo sapiens P30825
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 COQ8A Homo sapiens Q8NI60
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 LEPROTL1 Homo sapiens O95214
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 LEPROTL1 Homo sapiens O95214
Y2H Array
32296183
Intra
ORMDL3 Q8N138 ERGIC3 Homo sapiens Q9Y282
Y2H Array
32296183
Intra
ORMDL3 Q8N138 ERGIC3 Homo sapiens Q9Y282
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 ERGIC3 Homo sapiens Q9Y282
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 SYT2 Homo sapiens Q8N9I0
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 SYT2 Homo sapiens Q8N9I0
Y2H Array
32296183
Intra
ORMDL3 Q8N138 SYT2 Homo sapiens Q8N9I0
Validated Y2H
32296183
Intra
ORMDL3 Q8N138 ROM1 Homo sapiens Q03395
Y2H Prey Pooling
32296183
Intra
ORMDL3 Q8N138 ROM1 Homo sapiens Q03395
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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