OLFM2 olfactomedin 2 [Homo sapiens (human)] - Gene

Summary

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, Dec 2024]
Expression: Biased expression in brain (RPKM 38.1), skin (RPKM 32.4) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.

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Phenotypes

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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 EBI GWAS CatalogPubMed
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH47787 (e-PCR)
- UniSTS:13333

MARC_7983-7984:996688212:1 (e-PCR)
- UniSTS:269867

OLFM2 (e-PCR)
- UniSTS:504117

D19S1061 (e-PCR)
- UniSTS:61264

RH47931 (e-PCR)
- UniSTS:57267

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)

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
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
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