MATN3 matrilin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MATN3provided by HGNC
Official Full Name: matrilin 3provided by HGNC
Primary source: HGNC:HGNC:6909
See related: Ensembl:ENSG00000132031 MIM:602109; AllianceGenome:HGNC:6909
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HOA; OS2; EDM5; DIPOA; OADIP; SEMDBCD
Summary: This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
Expression: Biased expression in lung (RPKM 8.3), placenta (RPKM 4.2) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p24.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (19992052..20012668, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (20025556..20046168, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (20191813..20212429, complement)

Chromosome 2 - NC_000002.12 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 phase separation of extracellular matrix protein matrilin-3 from cancer-associated fibroblasts contributes to gastric cancer invasion.
Title: The phase separation of extracellular matrix protein matrilin-3 from cancer-associated fibroblasts contributes to gastric cancer invasion.
Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3.
Title: Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3.
Identification of MATN3 as a Novel Prognostic Biomarker for Gastric Cancer through Comprehensive TCGA and GEO Data Mining.
Title: Identification of MATN3 as a Novel Prognostic Biomarker for Gastric Cancer through Comprehensive TCGA and GEO Data Mining.
Exosomal MATN3 of Urine-Derived Stem Cells Ameliorates Intervertebral Disc Degeneration by Antisenescence Effects and Promotes NPC Proliferation and ECM Synthesis by Activating TGF-beta.
Title: Exosomal MATN3 of Urine-Derived Stem Cells Ameliorates Intervertebral Disc Degeneration by Antisenescence Effects and Promotes NPC Proliferation and ECM Synthesis by Activating TGF-β.
Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.
Title: Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.
Matrilin-3 alleviates extracellular matrix degradation of nucleus pulposus cells via induction of IL-1 receptor antagonist.
Title: Matrilin-3 alleviates extracellular matrix degradation of nucleus pulposus cells via induction of IL-1 receptor antagonist.
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.
Title: MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.
A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
Title: A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.
Title: A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.
Analysis of Polymorphisms in the MATN3 and DOT1L Genes and CTX-II Urinary Levels in Patients with Knee Osteoarthritis in a Northeast Mexican-Mestizo Population.
Title: Analysis of Polymorphisms in the MATN3 and DOT1L Genes and CTX-II Urinary Levels in Patients with Knee Osteoarthritis in a Northeast Mexican-Mestizo Population.

Submit: New GeneRIF Correction See all GeneRIFs (42)

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

Associated conditions

Description	Tests
Multiple epiphyseal dysplasia type 5 MedGen: C1846843 OMIM: 607078 GeneReviews: Multiple Epiphyseal Dysplasia, Dominant	Compare labs
Multiple Epiphyseal Dysplasia, Dominant MedGen: CN043640 GeneReviews: Multiple Epiphyseal Dysplasia, Dominant	Compare labs
Osteoarthritis susceptibility 2 MedGen: C3887526 OMIM: 140600 GeneReviews: Not available	Compare labs
Spondyloepimetaphyseal dysplasia, matrilin-3 type MedGen: C1837481 OMIM: 608728 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2014-03-12) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2014-03-12) ClinGen Genome Curation Page

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

NoName (e-PCR)
- UniSTS:482305

D2S1789 (e-PCR)
- UniSTS:16144

D2S2264 (e-PCR), detects polymorphism
- UniSTS:27938

NoName (e-PCR)
- UniSTS:486693

NoName (e-PCR)
- UniSTS:481097

D2S373 (e-PCR), detects polymorphism
- UniSTS:7768

RH102524 (e-PCR)
- UniSTS:96858

D2S1399 (e-PCR)
- UniSTS:28818

WIAF-2090 (e-PCR)
- UniSTS:56013

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	ISO Inferred from Sequence Orthology more info
involved_in extracellular matrix organization	NAS Non-traceable Author Statement more info	PubMed
involved_in skeletal system development	TAS 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	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
part_of matrilin complex	ISO Inferred from Sequence Orthology more info

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.

Genomic

NG_008087.1 RefSeqGene

Range

5027..25643

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002381.5 → NP_002372.1 matrilin-3 precursor

See identical proteins and their annotated locations for NP_002372.1

Status: REVIEWED

Source sequence(s)

AC079145, AJ224741, AU121718, CA447528, Y13341

Consensus CDS

CCDS46226.1

UniProtKB/Swiss-Prot

B2CPU0, O15232, Q4ZG02

UniProtKB/TrEMBL

A8K491

Related

ENSP00000383894.3, ENST00000407540.8

Conserved Domains (3) summary

pfam10393
Location:441 → 483

Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin

pfam14670
Location:310 → 346

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:80 → 303

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 ...