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

Gene ID: 29095, updated on 7-Jun-2020

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
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
Expression
Ubiquitous expression in esophagus (RPKM 18.1), colon (RPKM 18.0) and 25 other tissues See more
Orthologs

Genomic context

See ORMDL2 in Genome Data Viewer
Location:
12q13.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (55818041..55821879)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56211806..56214959)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369779 Neighboring gene CD63 molecule Neighboring gene growth differentiation factor 11 Neighboring gene SAP domain containing ribonucleoprotein 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

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cellular sphingolipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of ceramide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
SPOTS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Q53FV1
    Related
    ENSP00000243045.5, ENST00000243045.10
    Conserved Domains (1) summary
    pfam04061
    Location:11146
    ORMDL; ORMDL family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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