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Aliases for ORMDL2 Gene

Aliases for ORMDL2 Gene

  • ORMDL Sphingolipid Biosynthesis Regulator 2 2 3 5
  • Adoplin-2 3 4
  • ORM1 (S. Cerevisiae)-Like 2 2
  • ORM1-Like 2 (S. Cerevisiae) 2
  • Expressed In Normal Aorta 3
  • ORM1-Like Protein 2 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. Among its related pathways are Metabolism and Sphingolipid metabolism. An important paralog of this gene is ORMDL1.

UniProtKB/Swiss-Prot for ORMDL2 Gene

  • Negative regulator of sphingolipid synthesis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ORMDL2 Gene

Genomics for ORMDL2 Gene

Regulatory Elements for ORMDL2 Gene

Enhancers for ORMDL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F055715 1.2 ENCODE 20.4 -99.2 -99248 7.1 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF263 SP3 BAZ2A RN7SL809P CDK2 ZC3H10 RDH5 TMEM198B RNU6-343P ENSG00000258199 ENSG00000258317 ORMDL2
GH12F056718 1.2 ENCODE 20.3 +904.6 904640 8.9 CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF416 ZNF548 ZNF263 MCM3 NEMP1 BAZ2A ANKRD52 RN7SL809P ENSG00000224713 TMEM198B ZC3H10 RNU6-343P CDK2 SMARCC2
GH12F055925 1.8 FANTOM5 Ensembl ENCODE 10.2 +115.4 115420 16.2 CREB3L1 DMAP1 YBX1 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 BAZ2A RN7SL809P ZC3H10 CDK2 RBMS2 NABP2 TMEM198B RNU6-343P PYM1 NACA
GH12F055736 1.6 FANTOM5 Ensembl ENCODE 10.2 -80.0 -80022 3.3 HDGF PKNOX1 ATF1 ARID4B SIN3A ZNF48 ZNF2 SLC30A9 GLIS2 ZNF416 BAZ2A RN7SL809P TMEM198B RNU6-343P CDK2 ZC3H10 ORMDL2 SMARCC2 ANKRD52 RBMS2
GH12F056187 1.2 ENCODE 12 +371.5 371538 3.5 HDGF ARNT MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 BAZ2A NEMP1 ZC3H10 RN7SL809P ENSG00000258317 CDK2 RNU6-343P ANKRD52 ZBTB39 PA2G4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ORMDL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ORMDL2 Gene

Chromosome:
12
Start:
55,817,919 bp from pter
End:
55,821,879 bp from pter
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

Protein Domains for ORMDL2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ORMDL2 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for ORMDL2 Gene

Function for ORMDL2 Gene

Molecular function for ORMDL2 Gene

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

Phenotypes for ORMDL2 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 3
extracellular 2
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 1

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 --
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

Interacting Proteins 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 20182505
GO:0090155 negative regulation of sphingolipid biosynthetic process IEA --
GO:0090156 cellular sphingolipid homeostasis IBA --
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

Transcripts for ORMDL2 Gene

Unigene Clusters for ORMDL2 Gene

ORM1-like 2 (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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, PaxDb, 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.
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 and mRNA differential expression in normal tissues 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 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 97 (a)
OneToMany
ORMDL2 34
  • 93.46 (n)
-- 35
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ORMDL2 34 35
  • 93.25 (n)
mouse
(Mus musculus)
Mammalia Ormdl2 34 16 35
  • 90.63 (n)
rat
(Rattus norvegicus)
Mammalia Ormdl2 34
  • 90.2 (n)
lizard
(Anolis carolinensis)
Reptilia ORMDL2 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ormdl2 34
  • 79.52 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24171 34
zebrafish
(Danio rerio)
Actinopterygii ormdl2 34 35
  • 76.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta ORMDL 36 35
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORM2 35
  • 27 (a)
ManyToMany
ORM1 35
  • 24 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G01230 34
  • 51.02 (n)
rice
(Oryza sativa)
Liliopsida Os07g0452500 34
  • 52.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4417 34
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)

Paralogs for ORMDL2 Gene

Paralogs for ORMDL2 Gene

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

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 Sequence Context AA Info Type
rs10082864 -- 55,816,784(+) TTTTT(A/T)AACTT intron-variant, upstream-variant-2KB
rs111416072 -- 55,820,527(+) CCCAG(A/G)CTCCC downstream-variant-500B, utr-variant-3-prime
rs112289913 -- 55,820,639(+) TCCTC(C/T)ATAGC downstream-variant-500B, utr-variant-3-prime
rs112482009 -- 55,819,364(+) TCATA(C/T)GGTGA upstream-variant-2KB, reference, missense
rs112624887 -- 55,817,625(+) CAGTT(C/G)CTAGA intron-variant, upstream-variant-2KB

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

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

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)

Relevant External Links 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

Relevant External Links for ORMDL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ORMDL2

No disorders were found for ORMDL2 Gene.

No data available for MalaCards , 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. … Gonzalez-Duarte R. (Genome Biol. 2002) 2 3 4 64
  2. Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis. (PMID: 23066021) Siow D.L. … Wattenberg B.W. (J. Biol. Chem. 2012) 2 3 64
  3. Orm family proteins mediate sphingolipid homeostasis. (PMID: 20182505) Breslow D.K. … Weissman J.S. (Nature 2010) 3 4 64
  4. A family of membrane proteins associated with presenilin expression and gamma-secretase function. (PMID: 17928364) Araki W. … Tabira T. (FASEB J. 2008) 4 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ORMDL2 Gene

Sources for ORMDL2 Gene

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