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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. 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 for ORMDL2 Gene

  • Negative regulator of sphingolipid synthesis.

No data available for Entrez Gene Summary , CIViC 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
GH12G055925 2 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +115.4 115420 16.2 CREB3L1 DMAP1 FEZF1 YBX1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 BAZ2A ENSG00000257740 RN7SL809P SMARCC2 TMEM198B RNU6-343P PHC1P1 CDK2 PYM1 ZC3H10
GH12G055736 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -80.0 -80022 3.3 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 SLC30A9 ZNF766 ZNF416 ZNF207 BAZ2A RN7SL809P TMEM198B RNU6-343P CDK2 ZC3H10 ORMDL2 SMARCC2 ANKRD52 RBMS2
GH12G055715 1.7 Ensembl ENCODE dbSUPER 10.2 -99.2 -99248 7.1 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 BAZ2A RDH5 RN7SL809P ENSG00000258199 CDK2 ITGA7 TMEM198B RNU6-343P ZC3H10 ENSG00000257740
GH12G056718 1.5 ENCODE dbSUPER 10.1 +904.6 904640 8.9 CREB3L1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF416 ZNF548 ZNF263 MCM3 NEMP1 SMARCC2 BAZ2A ENSG00000257740 ANKRD52 TMEM198B ENSG00000224713 NAB2 RN7SL809P STAT2
GH12G056298 1.4 ENCODE dbSUPER 10.1 +482.9 482892 4.6 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZNF610 NEMP1 BAZ2A ZC3H10 CDK2 RN7SL809P ENSG00000257303 TMEM198B RPL41 RNU6-343P RBMS2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ORMDL2 on UCSC Golden Path with GeneCards custom track

Promoters for ORMDL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052447 -419 2601 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1

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

CRISPR Products

Inhibitory RNA 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 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

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

Drugs & Compounds for ORMDL2 Gene

No Compound Related Data Available

Transcripts for ORMDL2 Gene

Unigene Clusters for ORMDL2 Gene

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

CRISPR Products

Inhibitory RNA 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, 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.

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

Primer Products

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 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
rs1000323363 -- 55,818,037(+) AGGAG(A/C)GGCGT upstream-variant-2KB, utr-variant-5-prime
rs1000878438 -- 55,818,088(+) CCATA(A/G)CCGGA upstream-variant-2KB, utr-variant-5-prime
rs1001253250 -- 55,817,996(+) TGGCA(C/G)CGCTG upstream-variant-2KB
rs1002167516 -- 55,818,311(+) AGAGC(C/T)GCTTC intron-variant, upstream-variant-2KB
rs1002511602 -- 55,818,771(+) CGTGT(A/G)AAGAT intron-variant, upstream-variant-2KB

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)

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

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

Relevant External Links for ORMDL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. … 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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