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    OLFM2 olfactomedin 2 [ Homo sapiens (human) ]

    Gene ID: 93145, updated on 27-Nov-2024

    Summary

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    Official Symbol
    OLFM2provided by HGNC
    Official Full Name
    olfactomedin 2provided by HGNC
    Primary source
    HGNC:HGNC:17189
    See related
    Ensembl:ENSG00000105088 MIM:617492; AllianceGenome:HGNC:17189
    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
    NOE2; OlfC; NOELIN2; NOELIN2_V1
    Summary
    Involved in positive regulation of smooth muscle cell differentiation. Acts upstream of or within protein secretion. Located in cytoplasm; extracellular region; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 38.1), skin (RPKM 32.4) and 13 other tissues See more
    Orthologs
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    Genomic context

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    See OLFM2 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (9853718..9936515, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (9979884..10062687, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (9964394..10047191, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10048 Neighboring gene PIN1 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:9958151-9958702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:9958703-9959252 Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 1 Neighboring gene uncharacterized LOC124904636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10046447-10047041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10047708-10048210 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:10062835-10063428 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10063429-10064021 Neighboring gene collagen type V alpha 3 chain Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10109314-10109542 Neighboring gene Sharpr-MPRA regulatory region 3549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10112173-10112674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10112675-10113174 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50731 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:10128438-10129637 Neighboring gene retinol dehydrogenase 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The Role of Olfactomedin 2 in the Adipose Tissue-Liver Axis and Its Implication in Obesity-Associated Nonalcoholic Fatty Liver Disease. Barrientos-Riosalido A, et al. Int J Mol Sci, 2023 Mar 9. PMID 36982296, Free PMC Article
    2. Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders. Mukhopadhyay A, et al. Mol Vis, 2004 Apr 20. PMID 15123989
    3. Increased plasma olfactomedin 2 after interventional therapy is a predictor for restenosis in lower extremity arteriosclerosis obliterans patients. Li H, et al. Scand J Clin Lab Invest, 2018 Jul. PMID 29553861
    4. Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders. Holt R, et al. Hum Genet, 2017 Jan. PMID 27844144
    5. OLFM2 promotes epithelial-mesenchymal transition, migration, and invasion in colorectal cancer through the TGF-β/Smad signaling pathway. Tang Y, et al. BMC Cancer, 2024 Feb 13. PMID 38350902, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OLFM2 promotes epithelial-mesenchymal transition, migration, and invasion in colorectal cancer through the TGF-beta/Smad signaling pathway.
      Title: OLFM2 promotes epithelial-mesenchymal transition, migration, and invasion in colorectal cancer through the TGF-β/Smad signaling pathway.
    2. The Role of Olfactomedin 2 in the Adipose Tissue-Liver Axis and Its Implication in Obesity-Associated Nonalcoholic Fatty Liver Disease.
      Title: The Role of Olfactomedin 2 in the Adipose Tissue-Liver Axis and Its Implication in Obesity-Associated Nonalcoholic Fatty Liver Disease.
    3. New Insights of OLFM2 and OLFM4 in Gut-Liver Axis and Their Potential Involvement in Nonalcoholic Fatty Liver Disease.
      Title: New Insights of OLFM2 and OLFM4 in Gut-Liver Axis and Their Potential Involvement in Nonalcoholic Fatty Liver Disease.
    4. plasma OLFM2 is a potential biomarker for restenosis and may be a novel target for the treatment of restenosis.
      Title: Increased plasma olfactomedin 2 after interventional therapy is a predictor for restenosis in lower extremity arteriosclerosis obliterans patients.
    5. Our study indicates that OLFM2 is likely to be important in mammalian eye development and disease and should be considered as a gene for human ocular anomalies.
      Title: Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.
    6. Olfm2 physically interacts with serum response factor (SRF) without affecting the SRF-myocardin interaction.
      Title: Olfactomedin 2, a novel regulator for transforming growth factor-β-induced smooth muscle differentiation of human embryonic stem cell-derived mesenchymal cells.
    7. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.
    8. The Arg144Gln mutation in OLFM2 is a possible disease-causing mutation in Japanese patients with OAG. Common polymorphisms in OLFM2 and OPTN may interactively contribute to the development of OAG, indicating a polygenic etiology.
      Title: SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 positive regulation of smooth muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of vascular associated smooth muscle cell dedifferentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    noelin-2
    Names
    neuronal olfactomedin related ER localized protein 2

    NCBI Reference Sequences (RefSeq)

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    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_001304347.2 → NP_001291276.1  noelin-2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC008742, AC008752, BC011361, BE252295, BQ069013
      Consensus CDS
      CCDS92509.1
      UniProtKB/TrEMBL
      K7EKW2
      Related
      ENSP00000465809.2, ENST00000593091.2
      Conserved Domains (2) summary
      pfam02191
      Location:222 → 466
      OLF; Olfactomedin-like domain
      pfam12308
      Location:49 → 144
      Noelin-1; Neurogenesis glycoprotein

    2. NM_001304348.2 → NP_001291277.1  noelin-2 isoform 3

      See identical proteins and their annotated locations for NP_001291277.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' terminal exon, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC008742, AC008752, BC011361, BI907480, BX437233
      Consensus CDS
      CCDS77230.1
      UniProtKB/TrEMBL
      K7EIS8
      Related
      ENSP00000464877.1, ENST00000590841.5
      Conserved Domains (3) summary
      pfam02191
      Location:120 → 364
      OLF; Olfactomedin-like domain
      pfam12308
      Location:1 → 42
      Noelin-1; Neurogenesis glycoprotein
      cl25732
      Location:23 → 115
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_058164.4 → NP_477512.1  noelin-2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_477512.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC008752, AL538120, BC011361
      Consensus CDS
      CCDS12221.1
      UniProtKB/Swiss-Prot
      O95897, Q6IMJ3, Q96FC2
      Related
      ENSP00000264833.3, ENST00000264833.9
      Conserved Domains (2) summary
      pfam02191
      Location:198 → 442
      OLF; Olfactomedin-like domain
      pfam12308
      Location:25 → 120
      Noelin-1; Neurogenesis glycoprotein

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      9853718..9936515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439713.1 → XP_047295669.1  noelin-2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      9979884..10062687 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322669.1 → XP_054178644.1  noelin-2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95897.2 GenPept UniProtKB/Swiss-Prot:O95897

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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