OMD osteomodulin [Homo sapiens (human)] - Gene

Summary

Official Symbol: OMDprovided by HGNC
Official Full Name: osteomodulinprovided by HGNC
Primary source: HGNC:HGNC:8134
See related: Ensembl:ENSG00000127083 MIM:618926; AllianceGenome:HGNC:8134
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: OSAD; SLRR2C
Summary: Predicted to be involved in cell adhesion and regulation of bone mineralization. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in heart (RPKM 10.0), fat (RPKM 8.3) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.31

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (92412380..92424471, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (104578877..104590965, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (95174662..95186753, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Osteomodulin contributes to keloid development by regulating p38 MAPK signaling.
Title: Osteomodulin contributes to keloid development by regulating p38 MAPK signaling.
Osteomodulin Gene Expression Is Associated With Plaque Calcification, Stability, and Fewer Cardiovascular Events in the CPIP Cohort.
Title: Osteomodulin Gene Expression Is Associated With Plaque Calcification, Stability, and Fewer Cardiovascular Events in the CPIP Cohort.
Osteomodulin is a Potential Genetic Target for Hypertrophic Cardiomyopathy.
Title: Osteomodulin is a Potential Genetic Target for Hypertrophic Cardiomyopathy.
Osteomodulin (OMD) directly binds to type 1 collagen. OMD suppresses formation of collagen fibrils.
Title: Osteomodulin regulates diameter and alters shape of collagen fibrils.
Osteomodulin, osteoglycin, and asporin appear to be distinctly regulated in osteoarthritis labrum compared to OA cartilage.
Title: Distinct dysregulation of the small leucine-rich repeat protein family in osteoarthritic acetabular labrum compared to articular cartilage.
tyrosine sulfate-rich domains of the LRR proteins fibromodulin and osteoadherin bind motifs of basic clusters in a variety of heparin-binding proteins, including bioactive factors
Title: The tyrosine sulfate-rich domains of the LRR proteins fibromodulin and osteoadherin bind motifs of basic clusters in a variety of heparin-binding proteins, including bioactive factors.
TGF beta 1 signaling and stimulation of osteoadherin in human pulpal fibroblasts and in early secretory and mature odontoblasts
Title: TGF beta 1 signaling and stimulation of osteoadherin in human odontoblasts in vitro.

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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

STS-N30894 (e-PCR)
- UniSTS:2068

OMD__6110 (e-PCR)
- UniSTS:464516

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: osteomodulin

Names: KSPG osteomodulin; keratan sulfate proteoglycan osteomodulin; osteoadherin proteoglycan

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_005014.3 → NP_005005.1 osteomodulin precursor

See identical proteins and their annotated locations for NP_005005.1

Status: VALIDATED

Source sequence(s)

AL137848

Consensus CDS

CCDS6696.1

UniProtKB/Swiss-Prot

Q5TBF4, Q99983

UniProtKB/TrEMBL

B2R7N9

Related

ENSP00000364700.4, ENST00000375550.5

Conserved Domains (2) summary

sd00033
Location:94 → 116

LRR_RI; leucine-rich repeat [structural motif]

cl26018
Location:68 → 305

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