Matn3 matrilin 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Matn3provided by MGI
Official Full Name: matrilin 3provided by MGI
Primary source: MGI:MGI:1328350
See related: Ensembl:ENSMUSG00000020583 AllianceGenome:MGI:1328350
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable calcium ion binding activity. Acts upstream of or within cartilage development. Located in extracellular matrix. Is expressed in larynx; limb; sensory organ; and skeleton. Used to study multiple epiphyseal dysplasia 5 and osteoarthritis. Human ortholog(s) of this gene implicated in multiple epiphyseal dysplasia 5; osteoarthritis; and osteochondrodysplasia. Orthologous to human MATN3 (matrilin 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward limb E14.5 (RPKM 28.9) See more
Orthologs: human all
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Genomic context

Location:: 12 A1.1; 12 3.96 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (8997929..9022028)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (8947929..8972028)

Chromosome 12 - NC_000078.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Matrilin-3 T298M mutation predisposes for post-traumatic osteoarthritis in a knock-in mouse model.
Title: The Matrilin-3 T298M mutation predisposes for post-traumatic osteoarthritis in a knock-in mouse model.
Data show that hand osteoarthritis (HOA)-related matrilin-3 mutation (T298M) leads to a high expression level of growth arrest DNA damage-inducible gene 153 (GADD153)
Title: Multiple functions of the first EGF domain in matrilin-3: Secretion and endoplasmic reticulum stress.
MATN3 plays a regulatory role in cartilage homeostasis due to its capacity to induce IL-1Ra, upregulate gene expression of major cartilage matrix components, and downregulate the expression of OA-associated matrix-degrading proteinases in chondrocytes.
Title: Matrilin-3 induction of IL-1 receptor antagonist is required for up-regulating collagen II and aggrecan and down-regulating ADAMTS-5 gene expression.
MATN3 may have the inherent ability to inhibit premature chondrocyte hypertrophy by suppressing BMP-2/Smad1 activity
Title: Matrilin-3 inhibits chondrocyte hypertrophy as a bone morphogenetic protein-2 antagonist.
study will facilitate better awareness of the differential diagnoses that might be associated with the PSACH/MED spectrum and subsequent care of PSACH/MED patients
Title: Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.
Lack of COMP and matrilin 3 leads to increased deposition of TIMP-3, which causes partial inactivation of matrix metalloproteinases in bone, including MMP-13.
Title: Abnormal bone quality in cartilage oligomeric matrix protein and matrilin 3 double-deficient mice caused by increased tissue inhibitor of metalloproteinases 3 deposition and delayed aggrecan degradation.
Secretion of matrilin 3 V194D mutant protein is not dependent on hetero-oligomerization with matrilin 1.
Title: Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.
matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils
Title: A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils.
potential of matrilin-3 to modulate gene expression profile of primary chondrocytes; tested matrilin3-dependent induction of pro-inflammatory cytokines, inducible nitric oxide synthetase & cyclooxygenase-2, MMP1, -3 & -13, & matrilin-3 itself
Title: Matrilin-3 activates the expression of osteoarthritis-associated genes in primary human chondrocytes.
Matrilin-1 and matrilin-3 modulate collagen fibrillogenesis in cartilage and show that biochemical compensation might exist between matrilins, evidenced by Matn3 deficiency.
Title: Abnormal collagen fibrils in cartilage of matrilin-1/matrilin-3-deficient mice.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (3)

General gene information

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Markers

Matn3 (e-PCR), detects polymorphism
- UniSTS:158740

D5S1982 (e-PCR), detects polymorphism
- UniSTS:11651

AJ242929 (e-PCR)
- UniSTS:180366

AV009181 (e-PCR)
- UniSTS:165812

Y10521 (e-PCR)
- UniSTS:160184

MARC_9961-9962:996688712:1 (e-PCR)
- UniSTS:270033

18.MMHAP26FRF9.seq (e-PCR)
- UniSTS:123376

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix organization	IDA Inferred from Direct Assay more info	PubMed
involved_in extracellular matrix organization	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of matrilin complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: matrilin-3

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_010770.4 → NP_034900.4 matrilin-3 precursor

See identical proteins and their annotated locations for NP_034900.4

Status: VALIDATED

Source sequence(s)

AK048456, AK160954, BB643484

Consensus CDS

CCDS25806.1

UniProtKB/Swiss-Prot

O35701, Q543Q2, Q9JHM0

UniProtKB/TrEMBL

Q6IR12

Related

ENSMUSP00000020899.5, ENSMUST00000020899.5

Conserved Domains (3) summary

pfam10393
Location:438 → 478

Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin

pfam14670
Location:347 → 383

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:75 → 298

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...