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

    Gene ID: 29095, updated on 27-Nov-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ORMDL2 in Genome Data Viewer
    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_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56122619-56123225 Neighboring gene CD63 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6459 Neighboring gene CD63 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4537 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56140299-56140802 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:56140803-56141306 Neighboring gene growth differentiation factor 11 Neighboring gene SAP domain containing ribonucleoprotein Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:56192003-56192504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4538 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56223947-56224684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6460 Neighboring gene DnaJ heat shock protein family (Hsp40) member C14 Neighboring gene transmembrane protein 198B (pseudogene) Neighboring gene matrix metallopeptidase 19 Neighboring gene OLA1 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    ORM1-like protein 2
    Names
    expressed in normal aorta

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_014182.5NP_054901.1  ORM1-like protein 2

      See identical proteins and their annotated locations for NP_054901.1

      Status: VALIDATED

      Source sequence(s)
      AC023055, AF395707, AK223180, AW339474, BC012543, BG750383
      Consensus CDS
      CCDS8893.1
      UniProtKB/Swiss-Prot
      B2RA58, Q53FV1, Q7Z4E5, Q8NFX0, Q9P004
      Related
      ENSP00000243045.5, ENST00000243045.10
      Conserved Domains (1) summary
      pfam04061
      Location:11146
      ORMDL; ORMDL family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      55818041..55821879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      55784685..55788525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)