Details for: COL9A3

Gene ID: 1299

Symbol: COL9A3

Ensembl ID: ENSG00000092758

Description: collagen type IX alpha 3 chain

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 2.95
    Marker Score: 5007
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.41
    Marker Score: 705
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.9
    Marker Score: 12375
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.8
    Marker Score: 578
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.62
    Marker Score: 6009
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.57
    Marker Score: 1961
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.33
    Marker Score: 7883
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.18
    Marker Score: 1633
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.06
    Marker Score: 1130
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.02
    Marker Score: 1089
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.02
    Marker Score: 958
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71806
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48031
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.99
    Marker Score: 2363
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.98
    Marker Score: 925
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 499
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.96
    Marker Score: 2268
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 453
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 0.96
    Marker Score: 236
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5293
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2735
  • Cell Name: centroblast (CL0009112)
    Fold Change: 0.91
    Marker Score: 448
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.89
    Marker Score: 562
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 318
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.87
    Marker Score: 1096
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.87
    Marker Score: 589
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.82
    Marker Score: 1009
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.81
    Marker Score: 3390.5
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.8
    Marker Score: 388
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.78
    Marker Score: 248
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1252
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.76
    Marker Score: 1084.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 388
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.73
    Marker Score: 665
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.73
    Marker Score: 554
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2966
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.7
    Marker Score: 281
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.67
    Marker Score: 1273
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.65
    Marker Score: 784
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.64
    Marker Score: 1299
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.6
    Marker Score: 319
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.6
    Marker Score: 172
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.59
    Marker Score: 1608
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.59
    Marker Score: 846
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.57
    Marker Score: 201
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 436
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.53
    Marker Score: 239
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.53
    Marker Score: 337
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.52
    Marker Score: 440
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.52
    Marker Score: 8077
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 0.47
    Marker Score: 116
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.46
    Marker Score: 161
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.46
    Marker Score: 204
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.44
    Marker Score: 407
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 0.43
    Marker Score: 263
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.41
    Marker Score: 246
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.41
    Marker Score: 422
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.41
    Marker Score: 624
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.4
    Marker Score: 439
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.4
    Marker Score: 189
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.4
    Marker Score: 238
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.38
    Marker Score: 1129
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.38
    Marker Score: 179
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.37
    Marker Score: 99
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.37
    Marker Score: 567
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.36
    Marker Score: 237
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.36
    Marker Score: 474
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.35
    Marker Score: 2106
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.35
    Marker Score: 112
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.34
    Marker Score: 138
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.34
    Marker Score: 149
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.33
    Marker Score: 156
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.33
    Marker Score: 4388
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.33
    Marker Score: 78
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.33
    Marker Score: 103
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.33
    Marker Score: 248
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.31
    Marker Score: 60
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.3
    Marker Score: 117
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.3
    Marker Score: 78
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.29
    Marker Score: 326
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.29
    Marker Score: 206
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.28
    Marker Score: 97
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.28
    Marker Score: 97
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.27
    Marker Score: 151
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.27
    Marker Score: 1144.5
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.26
    Marker Score: 250
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.26
    Marker Score: 147
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.26
    Marker Score: 107
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.26
    Marker Score: 446
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.25
    Marker Score: 1358
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 0.25
    Marker Score: 146
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.25
    Marker Score: 222
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.25
    Marker Score: 101
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.25
    Marker Score: 57
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.25
    Marker Score: 564
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 0.24
    Marker Score: 217

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Other Information

**Key characteristics:** - COL9A3 is a type of collagen, a family of proteins that are essential for the structure and function of tissues. - It is a secreted protein, meaning that it is produced and released by cells and then spread throughout the tissue. - COL9A3 is a very important protein for the development and function of the nervous system. - It is expressed in neurons, glial cells, and endothelial cells. - It is also expressed in the extracellular matrix of blood vessels and the skin. **Pathways and functions:** - COL9A3 is involved in the assembly of collagen fibrils and other multimeric structures. - It is also involved in axon guidance, as it is expressed in neurons and is important for the formation of neural circuits. - COL9A3 is a key regulator of cell migration and adhesion. - It is also involved in the regulation of angiogenesis and tissue remodeling. **Clinical significance:** - Mutations in COL9A3 have been linked to a number of human diseases, including Marfan syndrome, which is characterized by structural abnormalities in the skin, eyes, and heart. - COL9A3 is also a target for therapeutic interventions in cancer and other diseases. **Additional notes:** - COL9A3 is a highly conserved protein, with a similar sequence found in mammals, birds, and fish. - It is a secreted protein, with a molecular weight of approximately 140 kDa. - It is a transmembrane protein, with two extracellular domains and a transmembrane domain. - It is a major component of the extracellular matrix, where it helps to maintain tissue integrity and provide a framework for cell adhesion.

Genular Protein ID: 3013790283

Symbol: CO9A3_HUMAN

Name: Collagen alpha-3(IX) chain

UniProtKB Accession Codes:

Q14050 Q13681 Q9H4G9 Q9UPE2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 8 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 4 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 8 RefSeq 1 SAM 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8586434

Title: Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3.

PubMed ID: 8586434

DOI: 10.1006/geno.1995.9870

PubMed ID: 10428822

Title: Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants.

PubMed ID: 10428822

DOI: 10.1074/jbc.274.32.22469

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 9164858

Title: Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis.

PubMed ID: 9164858

DOI: 10.1042/bj3240209

PubMed ID: 10090888

Title: COL9A3: A third locus for multiple epiphyseal dysplasia.

PubMed ID: 10090888

DOI: 10.1086/302328

PubMed ID: 11308397

Title: Identification of a novel common genetic risk factor for lumbar disk disease.

PubMed ID: 11308397

DOI: 10.1001/jama.285.14.1843

PubMed ID: 24273071

Title: Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

PubMed ID: 24273071

DOI: 10.1002/ajmg.a.36165

PubMed ID: 30450842

Title: Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

PubMed ID: 30450842

DOI: 10.1002/ajmg.a.40647

PubMed ID: 11565064

Title: A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

PubMed ID: 11565064

DOI: 10.1086/324023

PubMed ID: 25381065

Title: Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.

PubMed ID: 25381065

DOI: 10.1186/1471-2474-15-371

PubMed ID: 31090205

Title: Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

PubMed ID: 31090205

DOI: 10.1002/ajmg.a.61191

PubMed ID: 33570243

Title: Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.

PubMed ID: 33570243

DOI: 10.1002/mgg3.1620

Sequence Information:

  • Length: 684
  • Mass: 63616
  • Checksum: 892F035CF6E06733
  • Sequence:
    • MAGPRACAPL LLLLLLGELL AAAGAQRVGL PGPPGPPGPP GKPGQDGIDG EAGPPGLPGP 
PGPKGAPGKP GKPGEAGLPG LPGVDGLTGR DGPPGPKGAP GERGSLGPPG PPGLGGKGLP 
GPPGEAGVSG PPGGIGLRGP PGPSGLPGLP GPPGPPGPPG HPGVLPEGAT DLQCPSICPP 
GPPGPPGMPG FKGPTGYKGE QGEVGKDGEK GDPGPPGPAG LPGSVGLQGP RGLRGLPGPL 
GPPGDRGPIG FRGPPGIPGA PGKAGDRGER GPEGFRGPKG DLGRPGPKGT PGVAGPSGEP 
GMPGKDGQNG VPGLDGQKGE AGRNGAPGEK GPNGLPGLPG RAGSKGEKGE RGRAGELGEA 
GPSGEPGVPG DAGMPGERGE AGHRGSAGAL GPQGPPGAPG VRGFQGQKGS MGDPGLPGPQ 
GLRGDVGDRG PGGAAGPKGD QGIAGSDGLP GDKGELGPSG LVGPKGESGS RGELGPKGTQ 
GPNGTSGVQG VPGPPGPLGL QGVPGVPGIT GKPGVPGKEA SEQRIRELCG GMISEQIAQL 
AAHLRKPLAP GSIGRPGPAG PPGPPGPPGS IGHPGARGPP GYRGPTGELG DPGPRGNQGD 
RGDKGAAGAG LDGPEGDQGP QGPQGVPGTS KDGQDGAPGE PGPPGDPGLP GAIGAQGTPG 
ICDTSACQGA VLGGVGEKSG SRSS

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. For the full schema, download it here.