Aliases for OLFM2 Gene

Aliases for OLFM2 Gene

  • Olfactomedin 2 2 3 5
  • Noelin-2 3 4
  • NOE2 3 4
  • Neuronal Olfactomedin Related ER Localized Protein 2 3
  • Olfactomedin-2 4
  • NOELIN2_V1 3
  • Noelin 2 2
  • NOELIN2 3
  • OlfC 3

External Ids for OLFM2 Gene

Previous GeneCards Identifiers for OLFM2 Gene

  • GC19M010085
  • GC19M010187
  • GC19M009809
  • GC19M009825
  • GC19M009964
  • GC19M009545

Summaries for OLFM2 Gene

GeneCards Summary for OLFM2 Gene

OLFM2 (Olfactomedin 2) is a Protein Coding gene. Diseases associated with OLFM2 include Arteriosclerosis Obliterans and Open-Angle Glaucoma. An important paralog of this gene is OLFM3.

UniProtKB/Swiss-Prot Summary for OLFM2 Gene

  • Involved in transforming growth factor beta (TGF-beta)-induced smooth muscle differentiation. TGF-beta induces expression and translocation of OLFM2 to the nucleus where it binds to SRF, causing its dissociation from the transcriptional repressor HEY2/HERP1 and facilitating binding of SRF to target genes (PubMed:25298399). Plays a role in AMPAR complex organization (By similarity). Is a regulator of vascular smooth-muscle cell (SMC) phenotypic switching, that acts by promoting RUNX2 and inhibiting MYOCD binding to SRF. SMC phenotypic switching is the process through which vascular SMCs undergo transition between a quiescent contractile phenotype and a proliferative synthetic phenotype in response to pathological stimuli. SMC phenotypic plasticity is essential for vascular development and remodeling (By similarity).

Gene Wiki entry for OLFM2 Gene

Additional gene information for OLFM2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OLFM2 Gene

Genomics for OLFM2 Gene

GeneHancer (GH) Regulatory Elements for OLFM2 Gene

Promoters and enhancers for OLFM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J009935 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 509.4 +0.2 152 2.6 USF1 ZBTB10 ZBTB26 ZEB1 ZNF341 EZH2 HDAC2 ZSCAN18 MXI1 ZNF76 OLFM2 ZNF177 ENSG00000267273 ENSG00000200237 OR7D2 piR-51671-046
GH19J009944 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas 19.9 -9.8 -9838 3.6 JUND FOS REST ZNF263 MYC CTBP1 SKI ZEB1 CTCF NR2F2 piR-57460-343 OLFM2 ZNF846 COL5A3 lnc-OLFM2-1
GH19J009913 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 14.3 +22.5 22525 2.5 HNRNPK CTCF PHF8 JUND FOS ZNF10 ZBTB10 ZBTB11 ZNF623 ZBTB26 OLFM2 COL5A3 RDH8 ENSG00000267273 ZNF266 FJ601684-214 piR-51671-046
GH19J009933 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 14.8 +2.1 2089 1.3 ZNF217 CTCF SP1 ZIC2 ZBTB10 REST KLF7 MYC RAD21 ZBTB7A ZNF177 OLFM2 ENSG00000267273 ENSG00000200237 piR-51671-046
GH19J009930 Enhancer 0.9 Ensembl ENCODE 15.5 +5.5 5496 0.7 CTCF ZBTB10 REST RAD21 TRIM22 SMC3 DEK TCF12 CREB1 KDM5A OLFM2 COL5A3 RDH8 SHFL piR-51671-046
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OLFM2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OLFM2

Top Transcription factor binding sites by QIAGEN in the OLFM2 gene promoter:
  • Bach1
  • Bach2
  • c-Myc
  • ER-alpha
  • Max
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for OLFM2 Gene

Genomic Locations for OLFM2 Gene
chr19:9,853,718-9,936,552
(GRCh38/hg38)
Size:
82,835 bases
Orientation:
Minus strand
chr19:9,964,394-10,047,228
(GRCh37/hg19)
Size:
82,835 bases
Orientation:
Minus strand

Genomic View for OLFM2 Gene

Genes around OLFM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OLFM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OLFM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OLFM2 Gene

Proteins for OLFM2 Gene

  • Protein details for OLFM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95897-NOE2_HUMAN
    Recommended name:
    Noelin-2
    Protein Accession:
    O95897
    Secondary Accessions:
    • Q6IMJ3
    • Q96FC2

    Protein attributes for OLFM2 Gene

    Size:
    454 amino acids
    Molecular mass:
    51386 Da
    Quaternary structure:
    • Peripherally associated with AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents, including OLFM2. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing. Interacts with GRIA2 (By similarity). Interacts with OLFM1 and OLFM3 (PubMed:21228389). Interacts with SRF; the interaction promotes dissociation of SRF from the transcriptional repressor HEY2 (PubMed:25298399). Interacts with RUNX2 (By similarity).

neXtProt entry for OLFM2 Gene

Post-translational modifications for OLFM2 Gene

  • N-glycosylated.
  • Glycosylation at Asn74, Asn155, Asn275, Asn310, Asn399, and Asn441
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for OLFM2 Gene

No data available for DME Specific Peptides for OLFM2 Gene

Domains & Families for OLFM2 Gene

Gene Families for OLFM2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for OLFM2 Gene

Blocks:
  • Olfactomedin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OLFM2 Gene

GenScript: Design optimal peptide antigens:
  • Olfactomedin-2 (NOE2_HUMAN)
genes like me logo Genes that share domains with OLFM2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for OLFM2 Gene

Function for OLFM2 Gene

Molecular function for OLFM2 Gene

UniProtKB/Swiss-Prot Function:
Involved in transforming growth factor beta (TGF-beta)-induced smooth muscle differentiation. TGF-beta induces expression and translocation of OLFM2 to the nucleus where it binds to SRF, causing its dissociation from the transcriptional repressor HEY2/HERP1 and facilitating binding of SRF to target genes (PubMed:25298399). Plays a role in AMPAR complex organization (By similarity). Is a regulator of vascular smooth-muscle cell (SMC) phenotypic switching, that acts by promoting RUNX2 and inhibiting MYOCD binding to SRF. SMC phenotypic switching is the process through which vascular SMCs undergo transition between a quiescent contractile phenotype and a proliferative synthetic phenotype in response to pathological stimuli. SMC phenotypic plasticity is essential for vascular development and remodeling (By similarity).
UniProtKB/Swiss-Prot Induction:
By TGF-beta.

Phenotypes From GWAS Catalog for OLFM2 Gene

Gene Ontology (GO) - Molecular Function for OLFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25298399
genes like me logo Genes that share ontologies with OLFM2: view
genes like me logo Genes that share phenotypes with OLFM2: view

Animal Models for OLFM2 Gene

MGI Knock Outs for OLFM2:

Animal Model Products

  • Taconic Biosciences Mouse Models for OLFM2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OLFM2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for OLFM2 Gene

Localization for OLFM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OLFM2 Gene

Secreted. Cell junction, synapse. Membrane. Nucleus. Cytoplasm. Note=Nuclear localization is induced by TGF-beta. {ECO:0000269 PubMed:25298399}.

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 OLFM2 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 4
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for OLFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 21228389
GO:0005634 nucleus IDA,IEA 25298399
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 25298399
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with OLFM2: view

Pathways & Interactions for OLFM2 Gene

PathCards logo

SuperPathways for OLFM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OLFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0007626 locomotory behavior IEA --
GO:0009306 protein secretion IDA 21228389
GO:0051152 positive regulation of smooth muscle cell differentiation IMP 25298399
GO:1905174 regulation of vascular smooth muscle cell dedifferentiation IEA,ISS --
genes like me logo Genes that share ontologies with OLFM2: view

No data available for Pathways by source and SIGNOR curated interactions for OLFM2 Gene

Drugs & Compounds for OLFM2 Gene

No Compound Related Data Available

Transcripts for OLFM2 Gene

mRNA/cDNA for OLFM2 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OLFM2

Alternative Splicing Database (ASD) splice patterns (SP) for OLFM2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c
SP1: - -
SP2: -
SP3: - -
SP4: -

Relevant External Links for OLFM2 Gene

GeneLoc Exon Structure for
OLFM2

Expression for OLFM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OLFM2 Gene

mRNA differential expression in normal tissues according to GTEx for OLFM2 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x4.5), Brain - Amygdala (x4.1), and Brain - Nucleus accumbens (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for OLFM2 Gene

This gene is overexpressed in Vitreous humor (47.3) and Serum (16.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OLFM2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OLFM2

SOURCE GeneReport for Unigene cluster for OLFM2 Gene:

Hs.169743

mRNA Expression by UniProt/SwissProt for OLFM2 Gene:

O95897-NOE2_HUMAN
Tissue specificity: Expressed in aortic smooth muscle (at protein level) (PubMed:25298399). In the fetus, expressed in the brain and ocular tissues including lens vesicle and optic cup (PubMed:27844144).

Evidence on tissue expression from TISSUES for OLFM2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with OLFM2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for OLFM2 Gene

Orthologs for OLFM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OLFM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OLFM2 31 30
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OLFM2 31 30
  • 93.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OLFM2 31 30
  • 92.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Olfm2 30
  • 88.38 (n)
mouse
(Mus musculus)
Mammalia Olfm2 17 31 30
  • 88.23 (n)
oppossum
(Monodelphis domestica)
Mammalia OLFM2 31
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OLFM2 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia olfm2 30
  • 73.98 (n)
zebrafish
(Danio rerio)
Actinopterygii olfm2a 30
  • 73.36 (n)
olfm2b 31
  • 49 (a)
OneToOne
Dr.10562 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.278 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToMany
Species where no ortholog for OLFM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OLFM2 Gene

ENSEMBL:
Gene Tree for OLFM2 (if available)
TreeFam:
Gene Tree for OLFM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OLFM2: view image

Paralogs for OLFM2 Gene

Paralogs for OLFM2 Gene

(9) SIMAP similar genes for OLFM2 Gene using alignment to 5 proteins:

  • NOE2_HUMAN
  • K7EIS8_HUMAN
  • K7EKW2_HUMAN
  • K7ELC6_HUMAN
  • L8E9J3_HUMAN
genes like me logo Genes that share paralogs with OLFM2: view

Variants for OLFM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OLFM2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
780531 Benign: not provided 9,854,869(-) G/A INTRON_VARIANT
rs1298178636 A colorectal cancer sample p.Thr86Met
rs11556087 - p.Thr127Met
rs2303100 - p.Arg106Gln

Additional dbSNP identifiers (rs#s) for OLFM2 Gene

Structural Variations from Database of Genomic Variants (DGV) for OLFM2 Gene

Variant ID Type Subtype PubMed ID
dgv1710n106 CNV deletion 24896259
dgv1711n106 CNV deletion 24896259
esv2656960 CNV deletion 23128226
esv3643644 CNV loss 21293372
nsv1059984 CNV gain 25217958
nsv1072320 CNV deletion 25765185
nsv520683 CNV loss 19592680
nsv833742 CNV loss 17160897

Variation tolerance for OLFM2 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.91; 93.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OLFM2 Gene

Human Gene Mutation Database (HGMD)
OLFM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OLFM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OLFM2 Gene

Disorders for OLFM2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for OLFM2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
arteriosclerosis obliterans
open-angle glaucoma
  • glaucoma simplex
glaucoma, primary open angle
  • poag
- elite association - COSMIC cancer census association via MalaCards
Search OLFM2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OLFM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OLFM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OLFM2 Gene

Publications for OLFM2 Gene

  1. SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma. (PMID: 17122126) Funayama T … Glaucoma Gene Research Group (Investigative ophthalmology & visual science 2006) 3 23 41 54
  2. Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders. (PMID: 15123989) Mukhopadhyay A … Ray K (Molecular vision 2004) 3 4 23 54
  3. Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders. (PMID: 27844144) Holt R … Ragge N (Human genetics 2017) 3 4 54
  4. Olfactomedin 2, a novel regulator for transforming growth factor-β-induced smooth muscle differentiation of human embryonic stem cell-derived mesenchymal cells. (PMID: 25298399) Shi N … Chen SY (Molecular biology of the cell 2014) 3 4 54
  5. Olfactomedin 2: expression in the eye and interaction with other olfactomedin domain-containing proteins. (PMID: 21228389) Sultana A … Tomarev SI (Investigative ophthalmology & visual science 2011) 3 4 54

Products for OLFM2 Gene

Sources for OLFM2 Gene