Details for: MATN3

Gene ID: 4148

Symbol: MATN3

Ensembl ID: ENSG00000132031

Description: matrilin 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 8.1229
    Cell Significance Index: -3.3000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.8426
    Cell Significance Index: 20.4100
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.6226
    Cell Significance Index: 3.6600
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.4905
    Cell Significance Index: 4.1200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4475
    Cell Significance Index: 11.9900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.3434
    Cell Significance Index: 7.5200
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.2900
    Cell Significance Index: 1.7900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2458
    Cell Significance Index: 48.7700
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.2244
    Cell Significance Index: 2.5900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2240
    Cell Significance Index: 28.7100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1697
    Cell Significance Index: 2.4300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.1602
    Cell Significance Index: 2.3400
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.1388
    Cell Significance Index: 1.1800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1137
    Cell Significance Index: 2.3800
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.0897
    Cell Significance Index: 0.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0723
    Cell Significance Index: 5.3900
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.0485
    Cell Significance Index: 0.4400
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.0433
    Cell Significance Index: 0.7400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0277
    Cell Significance Index: 0.4400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0233
    Cell Significance Index: 2.7100
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.0056
    Cell Significance Index: 0.0400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0029
    Cell Significance Index: 2.0300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0012
    Cell Significance Index: 0.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0007
    Cell Significance Index: 1.2500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0002
    Cell Significance Index: 0.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0004
    Cell Significance Index: -0.5600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0005
    Cell Significance Index: -0.9100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0013
    Cell Significance Index: -0.3700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0027
    Cell Significance Index: -0.4900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0032
    Cell Significance Index: -4.3000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0044
    Cell Significance Index: -1.9500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0046
    Cell Significance Index: -3.4800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0050
    Cell Significance Index: -3.6800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0054
    Cell Significance Index: -3.4500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0054
    Cell Significance Index: -3.9800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0058
    Cell Significance Index: -0.8000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0070
    Cell Significance Index: -3.9500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0071
    Cell Significance Index: -2.5500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0091
    Cell Significance Index: -4.1100
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.0116
    Cell Significance Index: -0.1500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0125
    Cell Significance Index: -2.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0161
    Cell Significance Index: -1.6500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0181
    Cell Significance Index: -2.6300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0190
    Cell Significance Index: -4.0000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0194
    Cell Significance Index: -2.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0203
    Cell Significance Index: -2.3200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0210
    Cell Significance Index: -3.5800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0242
    Cell Significance Index: -1.2200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0269
    Cell Significance Index: -3.4800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0299
    Cell Significance Index: -1.2200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0343
    Cell Significance Index: -0.3900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0360
    Cell Significance Index: -3.7500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0387
    Cell Significance Index: -2.3800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0402
    Cell Significance Index: -2.8400
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0460
    Cell Significance Index: -0.6500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0483
    Cell Significance Index: -0.5300
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0515
    Cell Significance Index: -0.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0540
    Cell Significance Index: -2.5400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0560
    Cell Significance Index: -3.6100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0563
    Cell Significance Index: -4.3200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0576
    Cell Significance Index: -3.8700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0614
    Cell Significance Index: -3.1900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0622
    Cell Significance Index: -3.2400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0642
    Cell Significance Index: -1.0300
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.0698
    Cell Significance Index: -0.4100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0710
    Cell Significance Index: -3.0900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0725
    Cell Significance Index: -4.0700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0767
    Cell Significance Index: -1.9200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0819
    Cell Significance Index: -3.8200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0848
    Cell Significance Index: -4.4500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0852
    Cell Significance Index: -2.9600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0857
    Cell Significance Index: -3.7900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0891
    Cell Significance Index: -3.1200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0891
    Cell Significance Index: -2.5600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0928
    Cell Significance Index: -1.6400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0943
    Cell Significance Index: -3.4600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0971
    Cell Significance Index: -3.1800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1000
    Cell Significance Index: -2.6300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1009
    Cell Significance Index: -3.8200
  • Cell Name: eosinophil (CL0000771)
    Fold Change: -0.1021
    Cell Significance Index: -0.9000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1058
    Cell Significance Index: -3.3700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.1111
    Cell Significance Index: -1.8300
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: -0.1145
    Cell Significance Index: -0.7200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1152
    Cell Significance Index: -3.1400
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1179
    Cell Significance Index: -2.4000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1187
    Cell Significance Index: -3.0500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1195
    Cell Significance Index: -3.5200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1318
    Cell Significance Index: -3.7600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1321
    Cell Significance Index: -2.8600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1361
    Cell Significance Index: -2.9100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1393
    Cell Significance Index: -3.4800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1403
    Cell Significance Index: -3.7500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1406
    Cell Significance Index: -3.5100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1433
    Cell Significance Index: -3.6500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1447
    Cell Significance Index: -3.8700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1494
    Cell Significance Index: -4.7300
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1503
    Cell Significance Index: -2.1100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1522
    Cell Significance Index: -3.6500
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: -0.1592
    Cell Significance Index: -1.8400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1640
    Cell Significance Index: -4.7300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** MATN3 is a type II transmembrane protein that belongs to the matrilin family of extracellular matrix proteins. It is characterized by its ability to form complexes with other matrilins and collagen proteins, which are essential for maintaining the structure and organization of the extracellular matrix. MATN3 is also a calcium-binding protein, which is thought to play a role in regulating its interactions with other proteins and influencing its cellular localization. The protein is highly expressed in cartilage and bone tissue, where it is involved in the regulation of collagen organization and matrix mineralization. **Pathways and Functions:** MATN3 plays a crucial role in regulating the organization and function of the extracellular matrix, particularly in cartilage and bone tissue. It forms complexes with other matrilins and collagen proteins, which are essential for maintaining the structure and organization of the extracellular matrix. MATN3 also regulates the transport of IGFs by binding to insulin-like growth factor binding proteins (IGFBPs), which is essential for regulating cell growth and differentiation. Additionally, MATN3 is involved in regulating the activity of proteases and glycosyltransferases that are involved in the synthesis and degradation of extracellular matrix components. **Clinical Significance:** MATN3 has been implicated in a range of immune-related disorders, including rheumatoid arthritis, osteoarthritis, and multiple myeloma. In rheumatoid arthritis, MATN3 has been shown to be overexpressed in synovial tissue and to play a role in regulating the inflammatory response. In osteoarthritis, MATN3 has been shown to be involved in regulating the degradation of cartilage and bone tissue. In multiple myeloma, MATN3 has been shown to be associated with poor prognosis and to play a role in regulating the proliferation and survival of cancer cells. Furthermore, MATN3 has been implicated in a range of autoimmune disorders, including lupus and scleroderma, where it has been shown to be involved in regulating the inflammatory response and tissue damage. In conclusion, MATN3 is a critical regulator of the extracellular matrix and immune function, and its dysregulation has been implicated in a range of immune-related disorders. Further studies are needed to fully understand the role of MATN3 in immune function and disease, and to explore its potential as a therapeutic target for the treatment of immune-related disorders.

Genular Protein ID: 3437723988

Symbol: MATN3_HUMAN

Name: Matrilin-3

UniProtKB Accession Codes:

O15232 B2CPU0 Q4ZG02

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 2 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 GO 10 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 1 SMART 4 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9799608

Title: Characterization of human matrilin-3 (MATN3).

PubMed ID: 9799608

DOI: 10.1006/geno.1998.5519

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9350998

Title: Matrilin-3 from chicken cartilage.

PubMed ID: 9350998

DOI: 10.1016/s0014-5793(97)01126-5

PubMed ID: 9287130

Title: Primary structure of matrilin-3, a new member of a family of extracellular matrix proteins related to cartilage matrix protein (matrilin-1) and von Willebrand factor.

PubMed ID: 9287130

DOI: 10.1016/s0014-5793(97)00895-8

PubMed ID: 15075323

Title: Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias.

PubMed ID: 15075323

DOI: 10.1074/jbc.m403778200

PubMed ID: 26091039

Title: A single kinase generates the majority of the secreted phosphoproteome.

PubMed ID: 26091039

DOI: 10.1016/j.cell.2015.05.028

PubMed ID: 11479597

Title: Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

PubMed ID: 11479597

DOI: 10.1038/ng573

PubMed ID: 12736871

Title: Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3.

PubMed ID: 12736871

DOI: 10.1086/375556

PubMed ID: 12884427

Title: Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.

PubMed ID: 12884427

DOI: 10.1002/ajmg.a.20034

PubMed ID: 15459972

Title: Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

PubMed ID: 15459972

DOI: 10.1002/humu.9286

PubMed ID: 14729835

Title: Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.

PubMed ID: 14729835

DOI: 10.1136/jmg.2003.011429

PubMed ID: 15121775

Title: Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.

PubMed ID: 15121775

DOI: 10.1136/jmg.2003.013342

PubMed ID: 15948199

Title: Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.

PubMed ID: 15948199

DOI: 10.1002/ajmg.a.30832

PubMed ID: 16287128

Title: Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.

PubMed ID: 16287128

DOI: 10.1002/humu.20263

PubMed ID: 21922596

Title: Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

PubMed ID: 21922596

DOI: 10.1002/humu.21611

Sequence Information:

  • Length: 486
  • Mass: 52817
  • Checksum: 688847BCC791B331
  • Sequence:
    • MPRPAPARRL PGLLLLLWPL LLLPSAAPDP VARPGFRRLE TRGPGGSPGR RPSPAAPDGA 
PASGTSEPGR ARGAGVCKSR PLDLVFIIDS SRSVRPLEFT KVKTFVSRII DTLDIGPADT 
RVAVVNYAST VKIEFQLQAY TDKQSLKQAV GRITPLSTGT MSGLAIQTAM DEAFTVEAGA 
REPSSNIPKV AIIVTDGRPQ DQVNEVAARA QASGIELYAV GVDRADMASL KMMASEPLEE 
HVFYVETYGV IEKLSSRFQE TFCALDPCVL GTHQCQHVCI SDGEGKHHCE CSQGYTLNAD 
KKTCSALDRC ALNTHGCEHI CVNDRSGSYH CECYEGYTLN EDRKTCSAQD KCALGTHGCQ 
HICVNDRTGS HHCECYEGYT LNADKKTCSV RDKCALGSHG CQHICVSDGA ASYHCDCYPG 
YTLNEDKKTC SATEEARRLV STEDACGCEA TLAFQDKVSS YLQRLNTKLD DILEKLKINE 
YGQIHR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.