Aliases for ORMDL2 Gene

Aliases for ORMDL2 Gene

  • ORMDL Sphingolipid Biosynthesis Regulator 2 2 3 5
  • ORM1-Like Protein 2 3 4
  • Adoplin-2 3 4
  • ORM1 (S. Cerevisiae)-Like 2 2
  • ORM1-Like 2 (S. Cerevisiae) 2
  • Expressed In Normal Aorta 3
  • HSPC160 3
  • MSTP095 3
  • MST095 3

External Ids for ORMDL2 Gene

Previous GeneCards Identifiers for ORMDL2 Gene

  • GC12P056308
  • GC12P056433
  • GC12P055928
  • GC12P054498
  • GC12P054499
  • GC12P056211
  • GC12P053250

Summaries for ORMDL2 Gene

GeneCards Summary for ORMDL2 Gene

ORMDL2 (ORMDL Sphingolipid Biosynthesis Regulator 2) is a Protein Coding gene. Diseases associated with ORMDL2 include Retinitis Pigmentosa 26. Among its related pathways are Metabolism and Sphingolipid metabolism. An important paralog of this gene is ORMDL1.

UniProtKB/Swiss-Prot Summary for ORMDL2 Gene

Additional gene information for ORMDL2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ORMDL2 Gene

Genomics for ORMDL2 Gene

GeneHancer (GH) Regulatory Elements for ORMDL2 Gene

Promoters and enhancers for ORMDL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ORMDL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ORMDL2 gene promoter:
  • CREB
  • CUTL1
  • deltaCREB
  • FOXJ2
  • FOXJ2 (long isoform)
  • ITF-2
  • NF-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for ORMDL2 Gene

Genomic Locations for ORMDL2 Gene
chr12:55,818,022-55,821,879
(GRCh38/hg38)
Size:
3,858 bases
Orientation:
Plus strand
chr12:56,211,703-56,215,663
(GRCh37/hg19)
Size:
3,961 bases
Orientation:
Plus strand

Genomic View for ORMDL2 Gene

Genes around ORMDL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ORMDL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ORMDL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ORMDL2 Gene

Proteins for ORMDL2 Gene

  • Protein details for ORMDL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53FV1-ORML2_HUMAN
    Recommended name:
    ORM1-like protein 2
    Protein Accession:
    Q53FV1
    Secondary Accessions:
    • B2RA58
    • Q7Z4E5
    • Q8NFX0
    • Q9P004

    Protein attributes for ORMDL2 Gene

    Size:
    153 amino acids
    Molecular mass:
    17363 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ORMDL2 Gene

Post-translational modifications for ORMDL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ORMDL2 Gene

No data available for DME Specific Peptides for ORMDL2 Gene

Domains & Families for ORMDL2 Gene

Gene Families for ORMDL2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for ORMDL2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ORMDL2 Gene

GenScript: Design optimal peptide antigens:
  • Adoplin-2 (ORML2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q53FV1

UniProtKB/Swiss-Prot:

ORML2_HUMAN :
  • Belongs to the ORM family.
Family:
  • Belongs to the ORM family.
genes like me logo Genes that share domains with ORMDL2: view

Function for ORMDL2 Gene

Molecular function for ORMDL2 Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of sphingolipid synthesis.

Phenotypes From GWAS Catalog for ORMDL2 Gene

genes like me logo Genes that share phenotypes with ORMDL2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ORMDL2 Gene

Localization for ORMDL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ORMDL2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ORMDL2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
peroxisome 1
mitochondrion 0
cytosol 0
lysosome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ORMDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 12093374
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035339 SPOTS complex IBA 21873635
genes like me logo Genes that share ontologies with ORMDL2: view

Pathways & Interactions for ORMDL2 Gene

genes like me logo Genes that share pathways with ORMDL2: view

Pathways by source for ORMDL2 Gene

Gene Ontology (GO) - Biological Process for ORMDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process IMP,IBA 20182505
GO:0090155 negative regulation of sphingolipid biosynthetic process IEA --
GO:0090156 cellular sphingolipid homeostasis IBA 21873635
GO:1900060 negative regulation of ceramide biosynthetic process IMP 25691431
genes like me logo Genes that share ontologies with ORMDL2: view

No data available for SIGNOR curated interactions for ORMDL2 Gene

Drugs & Compounds for ORMDL2 Gene

No Compound Related Data Available

Transcripts for ORMDL2 Gene

mRNA/cDNA for ORMDL2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ORMDL2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
SP1:
SP2: -
SP3: - -

Relevant External Links for ORMDL2 Gene

GeneLoc Exon Structure for
ORMDL2
ECgene alternative splicing isoforms for
ORMDL2

Expression for ORMDL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ORMDL2 Gene

Protein differential expression in normal tissues from HIPED for ORMDL2 Gene

This gene is overexpressed in Placenta (29.3), Fetal testis (15.5), and Lung (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ORMDL2 Gene



Protein tissue co-expression partners for ORMDL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ORMDL2 Gene:

ORMDL2

SOURCE GeneReport for Unigene cluster for ORMDL2 Gene:

Hs.534450

mRNA Expression by UniProt/SwissProt for ORMDL2 Gene:

Q53FV1-ORML2_HUMAN
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 abd thymus.

Evidence on tissue expression from TISSUES for ORMDL2 Gene

  • Blood(4.2)
  • Pancreas(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ORMDL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ORMDL2 Gene

Orthologs for ORMDL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ORMDL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ORMDL2 33 32
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 33
  • 97 (a)
OneToMany
ORMDL2 32
  • 93.46 (n)
-- 33
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ORMDL2 33 32
  • 93.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ormdl2 17 33 32
  • 90.63 (n)
rat
(Rattus norvegicus)
Mammalia Ormdl2 32
  • 90.2 (n)
lizard
(Anolis carolinensis)
Reptilia ORMDL2 33
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ormdl2 32
  • 79.52 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24171 32
zebrafish
(Danio rerio)
Actinopterygii ormdl2 33 32
  • 76.47 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ORMDL 33 34
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORM2 33
  • 27 (a)
ManyToMany
ORM1 33
  • 24 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G01230 32
  • 51.02 (n)
rice
(Oryza sativa)
Liliopsida Os07g0452500 32
  • 52.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 63 (a)
OneToMany
Cin.4417 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4417 32
Species where no ortholog for ORMDL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ORMDL2 Gene

ENSEMBL:
Gene Tree for ORMDL2 (if available)
TreeFam:
Gene Tree for ORMDL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ORMDL2: view image

Paralogs for ORMDL2 Gene

Paralogs for ORMDL2 Gene

(2) SIMAP similar genes for ORMDL2 Gene using alignment to 3 proteins:

  • ORML2_HUMAN
  • F8VWV8_HUMAN
  • F8VXD5_HUMAN

Pseudogenes.org Pseudogenes for ORMDL2 Gene

genes like me logo Genes that share paralogs with ORMDL2: view

Variants for ORMDL2 Gene

Sequence variations from dbSNP and Humsavar for ORMDL2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000323363 -- 55,818,037(+) A/C upstream_transcript_variant
rs1000878438 -- 55,818,088(+) G/A/C 5_prime_UTR_variant
rs1001253250 -- 55,817,996(+) G/C upstream_transcript_variant
rs1002167516 -- 55,818,311(+) C/T intron_variant
rs1002511602 -- 55,818,771(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ORMDL2 Gene

Variant ID Type Subtype PubMed ID
esv22731 CNV loss 19812545
nsv559010 CNV loss 21841781
nsv832423 CNV gain 17160897

Variation tolerance for ORMDL2 Gene

Residual Variation Intolerance Score: 49.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ORMDL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ORMDL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ORMDL2 Gene

Disorders for ORMDL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ORMDL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 26
  • rp26
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ORMDL2

genes like me logo Genes that share disorders with ORMDL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ORMDL2 Gene

Publications for ORMDL2 Gene

  1. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. (PMID: 12093374) Hjelmqvist L … Gonzàlez-Duarte R (Genome biology 2002) 2 3 4 56
  2. Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis. (PMID: 23066021) Siow DL … Wattenberg BW (The Journal of biological chemistry 2012) 2 3 56
  3. Orm family proteins mediate sphingolipid homeostasis. (PMID: 20182505) Breslow DK … Weissman JS (Nature 2010) 3 4 56
  4. A family of membrane proteins associated with presenilin expression and gamma-secretase function. (PMID: 17928364) Araki W … Tabira T (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008) 4 23 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for ORMDL2 Gene

Sources for ORMDL2 Gene