OMG oligodendrocyte myelin glycoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: OMGprovided by HGNC
Official Full Name: oligodendrocyte myelin glycoproteinprovided by HGNC
Primary source: HGNC:HGNC:8135
See related: Ensembl:ENSG00000126861 MIM:164345; AllianceGenome:HGNC:8135
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: OMGP
Summary: Predicted to enable identical protein binding activity. Predicted to be involved in neuron projection regeneration. Predicted to act upstream of or within regulation of collateral sprouting of intact axon in response to injury. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward brain (RPKM 57.3) See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (31294647..31297239, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (32240332..32242924, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (29621665..29624257, complement)

Chromosome 17 - NC_000017.11 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?

The results do not support a relationship between the OMGP gene and the learning disability phenotype observed in neurofibromatosis type 1.
Title: Learning disability and oligodendrocyte myelin glycoprotein (OMGP) gene in neurofibromatosis type 1.
Data show that oligodendrocyte-myelin glycoprotein is downregulated in schizophrenia anterior temporal lobe revealed by shotgun proteome analysis.
Title: Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.
novel mutations and novel polymorphisms in coding regions and 5'UTR were detected in patients with with non-syndromic mental retardation
Title: Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.

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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

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

RH17724 (e-PCR)
- UniSTS:6323

Omg (e-PCR), detects polymorphism
- UniSTS:495849

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in neuron projection regeneration	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: oligodendrocyte-myelin glycoprotein

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_002544.5 → NP_002535.3 oligodendrocyte-myelin glycoprotein precursor

See identical proteins and their annotated locations for NP_002535.3

Status: VALIDATED

Source sequence(s)

AC134669, BC018050, DA206834

Consensus CDS

CCDS11265.1

UniProtKB/Swiss-Prot

E1P659, P23515

UniProtKB/TrEMBL

Q53HB8

Related

ENSP00000247271.4, ENST00000247271.5

Conserved Domains (3) summary

smart00013
Location:25 → 59

LRRNT; Leucine rich repeat N-terminal domain

sd00033
Location:37 → 56

LRR_RI; leucine-rich repeat [structural motif]

cl26018
Location:45 → 219

NEL; C-terminal novel E3 ligase, LRR-interacting