ORMDL2 ORMDL sphingolipid biosynthesis regulator 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ORMDL2provided by HGNC
Official Full Name: ORMDL sphingolipid biosynthesis regulator 2provided by HGNC
Primary source: HGNC:HGNC:16037
See related: Ensembl:ENSG00000123353 MIM:610074; AllianceGenome:HGNC:16037
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MST095; HSPC160; MSTP095; adoplin-2
Summary: Involved in ceramide metabolic process. Acts upstream of or within negative regulation of ceramide biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in esophagus (RPKM 18.1), colon (RPKM 18.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (55818041..55821879)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (55784685..55788525)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56211825..56215663)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.
Title: Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.
ORMDL1, ORMDL2 and ORMDL3 mediate the feedback response in ceramide biosynthesis.
Title: Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-12249 (e-PCR)
- UniSTS:77981

SHGC-64831 (e-PCR)
- UniSTS:6835

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ceramide metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular sphingolipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of ceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
part_of serine palmitoyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ORM1-like protein 2

Names: expressed in normal aorta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.