Details for: COL9A3

Gene ID: 1299

Symbol: COL9A3

Ensembl ID: ENSG00000092758

Description: collagen type IX alpha 3 chain

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 93.7991
    Cell Significance Index: -14.5900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 57.1669
    Cell Significance Index: -14.5000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.6517
    Cell Significance Index: -15.1400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 5.1731
    Cell Significance Index: 66.2500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.7126
    Cell Significance Index: -14.6500
  • Cell Name: chondroblast (CL0000058)
    Fold Change: 3.6797
    Cell Significance Index: 21.6000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.4186
    Cell Significance Index: 50.6300
  • Cell Name: centroblast (CL0009112)
    Fold Change: 2.0017
    Cell Significance Index: 4.6700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.5551
    Cell Significance Index: 153.8400
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.5513
    Cell Significance Index: 12.8300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.2371
    Cell Significance Index: 158.5900
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.2058
    Cell Significance Index: 10.4300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9233
    Cell Significance Index: 100.4300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8310
    Cell Significance Index: 49.8900
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.8140
    Cell Significance Index: 5.5900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7436
    Cell Significance Index: 147.5800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.5547
    Cell Significance Index: 352.3000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5371
    Cell Significance Index: 37.1400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2184
    Cell Significance Index: 2.9800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2151
    Cell Significance Index: 4.6600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2001
    Cell Significance Index: 9.3300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1838
    Cell Significance Index: 21.6700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1474
    Cell Significance Index: 6.6800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1261
    Cell Significance Index: 2.0000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1081
    Cell Significance Index: 1.1800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0727
    Cell Significance Index: 13.8300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0378
    Cell Significance Index: 5.4900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0371
    Cell Significance Index: 1.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0358
    Cell Significance Index: 7.1800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0299
    Cell Significance Index: 0.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0138
    Cell Significance Index: 25.9100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0115
    Cell Significance Index: 5.0900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0013
    Cell Significance Index: -0.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0020
    Cell Significance Index: -1.1000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0044
    Cell Significance Index: -1.5800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0050
    Cell Significance Index: -0.1800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0060
    Cell Significance Index: -4.1400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0097
    Cell Significance Index: -17.8900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0119
    Cell Significance Index: -18.2500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0137
    Cell Significance Index: -18.6800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0141
    Cell Significance Index: -10.3700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0184
    Cell Significance Index: -8.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0199
    Cell Significance Index: -15.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0249
    Cell Significance Index: -18.4600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0286
    Cell Significance Index: -0.6100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0290
    Cell Significance Index: -8.3400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0311
    Cell Significance Index: -17.5400
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.0312
    Cell Significance Index: -0.2400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0343
    Cell Significance Index: -6.1900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0607
    Cell Significance Index: -7.0700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0627
    Cell Significance Index: -1.3000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0641
    Cell Significance Index: -4.0400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0727
    Cell Significance Index: -9.9800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0729
    Cell Significance Index: -8.9600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0731
    Cell Significance Index: -8.3800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0839
    Cell Significance Index: -14.3300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0854
    Cell Significance Index: -18.0000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0855
    Cell Significance Index: -11.0400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1087
    Cell Significance Index: -3.4800
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.1091
    Cell Significance Index: -1.1700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1137
    Cell Significance Index: -6.9900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1159
    Cell Significance Index: -8.2000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1174
    Cell Significance Index: -3.2800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1201
    Cell Significance Index: -12.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1247
    Cell Significance Index: -6.4800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1338
    Cell Significance Index: -2.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1455
    Cell Significance Index: -15.1500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1524
    Cell Significance Index: -9.8300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1639
    Cell Significance Index: -12.9800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1817
    Cell Significance Index: -13.5400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1951
    Cell Significance Index: -10.9500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2118
    Cell Significance Index: -16.2500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2127
    Cell Significance Index: -5.6800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2159
    Cell Significance Index: -14.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2189
    Cell Significance Index: -13.4200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2340
    Cell Significance Index: -5.8500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2447
    Cell Significance Index: -12.8500
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.2550
    Cell Significance Index: -1.2200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2566
    Cell Significance Index: -12.0600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2642
    Cell Significance Index: -7.1900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2681
    Cell Significance Index: -3.8400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2751
    Cell Significance Index: -6.8600
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: -0.2975
    Cell Significance Index: -1.2700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3008
    Cell Significance Index: -8.8600
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.3037
    Cell Significance Index: -4.2600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3071
    Cell Significance Index: -10.7600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3129
    Cell Significance Index: -13.8400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3134
    Cell Significance Index: -8.2400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3391
    Cell Significance Index: -5.1100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3450
    Cell Significance Index: -11.9900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.3532
    Cell Significance Index: -5.8200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3567
    Cell Significance Index: -11.6800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3645
    Cell Significance Index: -10.4500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3724
    Cell Significance Index: -14.1000
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.3947
    Cell Significance Index: -2.9800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4160
    Cell Significance Index: -15.2700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4527
    Cell Significance Index: -12.1100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4543
    Cell Significance Index: -14.4700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.4605
    Cell Significance Index: -3.1200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4750
    Cell Significance Index: -13.9500

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

Title: Unveiling the Role of COL9A3 in Immunological and Tissue Development: A Comprehensive Review Summary: Collagen type IX alpha 3 chain, encoded by the COL9A3 gene, plays a crucial role in the development and maintenance of various tissues, including the nervous system, cardiovascular system, and extracellular matrix. As an expert immunologist, I will delve into the key characteristics, pathways, and functions of COL9A3, highlighting its significance in cellular processes and clinical implications. Key Characteristics: COL9A3 is a member of the collagen family, specifically the IX alpha 3 chain, which is a trimeric protein composed of three alpha-3 chains. This protein is highly expressed in various cell types, including mesenchymal cells, non-pigmented ciliary epithelial cells, and neural crest cells. The COL9A3 gene is also significant in its ability to form homodimers and participate in the assembly of collagen fibrils, which are essential components of the extracellular matrix. Pathways and Functions: COL9A3 is involved in various cellular processes, including: 1. **Extracellular matrix organization**: COL9A3 plays a crucial role in the formation and maintenance of the extracellular matrix, which provides structural support and facilitates cell-cell interactions. 2. **Axon guidance**: COL9A3 is involved in the development of the nervous system, particularly in axon guidance, which is essential for the formation of neural connections. 3. **Collagen chain trimerization**: COL9A3 participates in the trimerization of collagen chains, which is necessary for the formation of collagen fibrils. 4. **Degradation of the extracellular matrix**: COL9A3 is also involved in the degradation of the extracellular matrix, which is essential for tissue remodeling and repair. 5. **Signaling pathways**: COL9A3 interacts with various signaling molecules, including PDGF and receptor tyrosine kinases, to regulate cellular processes. Signaling pathways and functions: COL9A3 interacts with various signaling molecules, including: 1. **PDGF**: COL9A3 is involved in the signaling of PDGF, which regulates cell growth, differentiation, and migration. 2. **Receptor tyrosine kinases**: COL9A3 interacts with receptor tyrosine kinases, which regulate cell signaling pathways involved in cell proliferation, differentiation, and survival. 3. **Ncam1**: COL9A3 interacts with Ncam1, a cell surface molecule involved in axon guidance and neural development. Clinical Significance: COL9A3 has significant clinical implications in various diseases, including: 1. **Osteogenesis imperfecta**: COL9A3 mutations are associated with osteogenesis imperfecta, a genetic disorder characterized by fragile bones and skeletal deformities. 2. **Vascular diseases**: COL9A3 is involved in the development of vascular diseases, including atherosclerosis and aneurysms. 3. **Nervous system disorders**: COL9A3 mutations are associated with nervous system disorders, including developmental delays and intellectual disability. In conclusion, COL9A3 plays a critical role in various cellular processes, including extracellular matrix organization, axon guidance, and collagen chain trimerization. Its interactions with signaling molecules and involvement in disease pathways highlight its significance in immunological and tissue development. Further research is necessary to fully understand the role of COL9A3 in human health and disease.

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 Ensembl 1 ExpressionAtlas 1 GO 8 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 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 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. 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.