MATN2 matrilin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MATN2provided by HGNC
Official Full Name: matrilin 2provided by HGNC
Primary source: HGNC:HGNC:6908
See related: Ensembl:ENSG00000132561 MIM:602108; AllianceGenome:HGNC:6908
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
Summary: This gene encodes a member of the 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 five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in thyroid (RPKM 133.8), placenta (RPKM 60.9) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.1-q22.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (97869064..98036724)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (98994565..99162197)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (98881292..99048952)

Chromosome 8 - NC_000008.11 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?

MATN2 overexpression suppresses tumor growth in ovarian cancer via PTEN/PI3K/AKT pathway.
Title: MATN2 overexpression suppresses tumor growth in ovarian cancer via PTEN/PI3K/AKT pathway.
Low expression of TGF-beta2 and matrilin2 in human aqueous humour with acute primary angle closure.
Title: Low expression of TGF-β2 and matrilin2 in human aqueous humour with acute primary angle closure.
Peritumoral matrilin-2 staining may be useful in distinguishing basal cell carcinoma from folliculocentric basaloid proliferation.
Title: Peritumoral matrilin-2 staining may be useful in distinguishing basal cell carcinoma from folliculocentric basaloid proliferation.
Extracellular matrix changes in corneal opacification vary depending on etiology.
Title: Extracellular matrix changes in corneal opacification vary depending on etiology.
Mechanistic Roles of Matrilin-2 and Klotho in Modulating the Inflammatory Activity of Human Aortic Valve Cells.
Title: Mechanistic Roles of Matrilin-2 and Klotho in Modulating the Inflammatory Activity of Human Aortic Valve Cells.
MiR-202-5p/MATN2 are associated with regulatory T-cells differentiation and function in allergic rhinitis.
Title: MiR-202-5p/MATN2 are associated with regulatory T-cells differentiation and function in allergic rhinitis.
miR-202-5p could target MATN2 to induce M2 polarization involved in allergic rhinitis.
Title: MiR-202-5p Promotes M2 Polarization in Allergic Rhinitis by Targeting MATN2.
findings showed that YopK binds to the cell surface-exposed endogenous MATN2 and that purified YopK protein strongly inhibits the bacterial adherence to HeLa cells
Title: Yersinia pestis YopK Inhibits Bacterial Adhesion to Host Cells by Binding to the Extracellular Matrix Adaptor Protein Matrilin-2.
Data show that the mRNA and protein levels of matrilin-2 were increased after irradiation treatment in both mouse lung tissue and human pulmonary alveolar epithelial cells (HPAEpiC).
Title: Matrilin-2 regulates proliferation, apoptosis and cell cycle during radiation-induced injury in HPAEpiC cell.
Taken together, our results showed that high-glucose-induced Matrilin-2 expression that was mediated by the TGF-beta1/Smad3 signaling pathway might play a role in Diabetic nephropathy (DN) pathogenesis and our finding provided a potential diagnostic and/or therapeutic target for DN.
Title: High glucose-induced Matrilin-2 expression in mouse mesangial cells was mediated by transforming growth factor beta 1 (TGF-β1).

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

EBI GWAS Catalog

Description
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. 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

G20777 (e-PCR)
- UniSTS:7195

A006G02 (e-PCR)
- UniSTS:7196

MARC_10159-10160:996678914:1 (e-PCR)
- UniSTS:267055

G62981 (e-PCR)
- UniSTS:140106

RH66182 (e-PCR)
- UniSTS:27244

D8S2004 (e-PCR)
- UniSTS:70261

SHGC-147305 (e-PCR)
- UniSTS:175734

MATN2__7381 (e-PCR)
- UniSTS:466303

SHGC-36779 (e-PCR)
- UniSTS:80543

HSCZPH042 (e-PCR)
- UniSTS:74693

G59494 (e-PCR)
- UniSTS:136658

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	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in biological_process	ND No biological Data available more info
involved_in dendrite regeneration	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	NAS Non-traceable Author Statement more info	PubMed
involved_in glial cell migration	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in response to axon injury	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basement membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
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
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of matrilin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: matrilin-2

Names: testis tissue sperm-binding protein Li 94mP

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_001317748.2 → NP_001304677.1 matrilin-2 isoform c precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AP002906, AP003352

Consensus CDS

CCDS83309.1

Related

ENSP00000430221.1, ENST00000524308.5

Conserved Domains (4) summary

cd01475
Location:54 → 276

vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...

pfam10393
Location:870 → 912

Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin

pfam14670
Location:324 → 359

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:479 → 522

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 ...
NM_002380.5 → NP_002371.3 matrilin-2 isoform a precursor

See identical proteins and their annotated locations for NP_002371.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AP002906, AP003352

Consensus CDS

CCDS55264.1

UniProtKB/Swiss-Prot

A8K106, E7EW74, E9PD48, E9PGL2, O00339, Q6UWA5, Q7Z5X1, Q8NDE6, Q96FT5, Q9NSZ1

UniProtKB/TrEMBL

A0A140VKH7

Related

ENSP00000254898.6, ENST00000254898.7

Conserved Domains (4) summary

cd01475
Location:54 → 276

vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...

pfam10393
Location:911 → 953

Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin

pfam14670
Location:365 → 400

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:438 → 481

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 ...
NM_030583.4 → NP_085072.2 matrilin-2 isoform b precursor

See identical proteins and their annotated locations for NP_085072.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AP002906, AP003352

Consensus CDS

CCDS55265.1

Related

ENSP00000429977.1, ENST00000521689.5

Conserved Domains (4) summary

cd01475
Location:54 → 276

vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...

pfam10393
Location:892 → 934

Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin

pfam14670
Location:365 → 400

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:652 → 873

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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

97869064..98036724

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005250920.3 → XP_005250977.1 matrilin-2 isoform X1

Conserved Domains (4) summary

cd01475
Location:54 → 276

vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...

pfam10393
Location:773 → 815

Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin

pfam14670
Location:365 → 400

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:645 → 754

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 ...