Details for: COL9A2

Gene ID: 1298

Symbol: COL9A2

Ensembl ID: ENSG00000049089

Description: collagen type IX alpha 2 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: 96.1135
    Cell Significance Index: -14.9500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 58.3102
    Cell Significance Index: -14.7900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 28.8980
    Cell Significance Index: -11.7400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.3070
    Cell Significance Index: -11.7500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 12.1172
    Cell Significance Index: -14.9400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.3792
    Cell Significance Index: -14.4100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.2228
    Cell Significance Index: -12.9700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.7065
    Cell Significance Index: 59.3000
  • Cell Name: chondroblast (CL0000058)
    Fold Change: 1.4872
    Cell Significance Index: 8.7300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0973
    Cell Significance Index: 57.0000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.0144
    Cell Significance Index: -2.2200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7499
    Cell Significance Index: 20.1000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.7393
    Cell Significance Index: 15.7500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.6860
    Cell Significance Index: 15.0200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5805
    Cell Significance Index: 34.8500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5395
    Cell Significance Index: 487.1700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4723
    Cell Significance Index: 51.3700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.4648
    Cell Significance Index: 295.1900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3726
    Cell Significance Index: 7.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3655
    Cell Significance Index: 59.4500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2932
    Cell Significance Index: 552.1000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2606
    Cell Significance Index: 142.3200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2572
    Cell Significance Index: 29.9700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2274
    Cell Significance Index: 10.3100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1964
    Cell Significance Index: 13.5900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1956
    Cell Significance Index: 19.3500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1883
    Cell Significance Index: 4.0800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1740
    Cell Significance Index: 33.1100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1343
    Cell Significance Index: 10.0100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1248
    Cell Significance Index: 16.0000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1063
    Cell Significance Index: 163.6500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0965
    Cell Significance Index: 131.1500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0751
    Cell Significance Index: 33.2100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0670
    Cell Significance Index: 123.6300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0440
    Cell Significance Index: 19.9900
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0390
    Cell Significance Index: 0.3000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0326
    Cell Significance Index: 0.9400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0238
    Cell Significance Index: 1.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0112
    Cell Significance Index: 2.2300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0093
    Cell Significance Index: 1.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0045
    Cell Significance Index: 0.2500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0034
    Cell Significance Index: 0.4200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0036
    Cell Significance Index: -2.6700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0055
    Cell Significance Index: -3.4100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0074
    Cell Significance Index: -0.2600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0124
    Cell Significance Index: -1.8000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0124
    Cell Significance Index: -0.3100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0134
    Cell Significance Index: -9.2400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0136
    Cell Significance Index: -7.6500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0169
    Cell Significance Index: -12.4200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0184
    Cell Significance Index: -13.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0335
    Cell Significance Index: -12.0200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0361
    Cell Significance Index: -10.4000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0464
    Cell Significance Index: -6.0000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0469
    Cell Significance Index: -0.6400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0507
    Cell Significance Index: -0.7600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0515
    Cell Significance Index: -0.5600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0517
    Cell Significance Index: -8.8300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0541
    Cell Significance Index: -11.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0563
    Cell Significance Index: -11.2900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0625
    Cell Significance Index: -7.3700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0637
    Cell Significance Index: -7.3000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0802
    Cell Significance Index: -2.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0821
    Cell Significance Index: -2.1100
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.0824
    Cell Significance Index: -0.7000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0841
    Cell Significance Index: -8.5900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0877
    Cell Significance Index: -12.0400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0980
    Cell Significance Index: -3.1400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0984
    Cell Significance Index: -11.2300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1168
    Cell Significance Index: -3.1800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1289
    Cell Significance Index: -13.4200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1297
    Cell Significance Index: -2.1700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1363
    Cell Significance Index: -8.8000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1369
    Cell Significance Index: -2.8400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1635
    Cell Significance Index: -7.6900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1653
    Cell Significance Index: -13.0900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1668
    Cell Significance Index: -11.8000
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.1674
    Cell Significance Index: -1.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1746
    Cell Significance Index: -8.1400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1749
    Cell Significance Index: -10.7200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1749
    Cell Significance Index: -10.7500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1943
    Cell Significance Index: -10.1200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1985
    Cell Significance Index: -13.3500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2146
    Cell Significance Index: -16.4700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2183
    Cell Significance Index: -5.8400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2385
    Cell Significance Index: -12.5200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2390
    Cell Significance Index: -7.0200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3246
    Cell Significance Index: -14.3600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3383
    Cell Significance Index: -13.8600
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.3479
    Cell Significance Index: -4.8800
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.3561
    Cell Significance Index: -5.0600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.3599
    Cell Significance Index: -5.9300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3861
    Cell Significance Index: -14.6200
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.3968
    Cell Significance Index: -6.8600
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: -0.4089
    Cell Significance Index: -2.4500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.4118
    Cell Significance Index: -2.7900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4149
    Cell Significance Index: -12.2200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4195
    Cell Significance Index: -14.7000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.4234
    Cell Significance Index: -6.5500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4364
    Cell Significance Index: -16.0200

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:** COL9A2 is a specific isoform of collagen type IX, composed of two alpha chains. It is primarily expressed in non-pigmented ciliary epithelial cells, secondary lens fibers, and other epithelial cells. COL9A2 is a structural component of the ECM, contributing to the tensile strength and organization of tissues. Its unique structure allows it to interact with other ECM components, such as proteoglycans and integrins, facilitating cell adhesion, migration, and signaling. **Pathways and Functions:** COL9A2 is involved in several signaling pathways, including: 1. **Axon guidance and nervous system development:** COL9A2 interacts with Ncam1, a cell surface molecule involved in axon guidance and neurite outgrowth. 2. **Extracellular matrix organization:** COL9A2 contributes to the assembly and degradation of the ECM, regulating tissue structure and function. 3. **Skeletal system development:** COL9A2 is essential for the development and maintenance of skeletal tissues, including bone and cartilage. 4. **Collagen biosynthesis and modifying enzymes:** COL9A2 interacts with enzymes involved in collagen synthesis and modification, regulating the assembly and degradation of collagen fibrils. **Clinical Significance:** Dysregulation of COL9A2 has been implicated in various human diseases, including: 1. **Osteogenesis imperfecta (OI):** A genetic disorder characterized by fragile bones and ECM defects, where COL9A2 mutations are a common cause. 2. **Ehlers-Danlos syndrome (EDS):** A group of disorders characterized by ECM defects and tissue fragility, where COL9A2 mutations are a contributing factor. 3. **Cancer:** Aberrant COL9A2 expression has been linked to cancer progression, metastasis, and ECM remodeling. 4. **Neurological disorders:** COL9A2 has been implicated in the pathogenesis of neurological disorders, such as Alzheimer's disease and multiple sclerosis. In conclusion, COL9A2 is a vital component of the extracellular matrix, playing a crucial role in maintaining tissue structure and function. Its dysregulation has been implicated in various human diseases, highlighting the importance of further research into the functions and clinical significance of COL9A2.

Genular Protein ID: 3034337266

Symbol: CO9A2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q14055 B2RMP9

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 9 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 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 8 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9707347

Title: Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule.

PubMed ID: 9707347

DOI: 10.1016/s0945-053x(98)90063-4

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 8454052

Title: Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1.

PubMed ID: 8454052

DOI: 10.1016/0014-5793(93)80062-y

PubMed ID: 10364514

Title: Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

PubMed ID: 10364514

DOI: 10.1086/302440

PubMed ID: 21671392

Title: A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

PubMed ID: 21671392

DOI: 10.1002/ajmg.a.34071

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: 33356723

Title: Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.

PubMed ID: 33356723

DOI: 10.1080/13816810.2020.1861309

PubMed ID: 10411504

Title: An allele of COL9A2 associated with intervertebral disc disease.

PubMed ID: 10411504

DOI: 10.1126/science.285.5426.409

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: 28887846

Title: Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.

PubMed ID: 28887846

DOI: 10.1002/humu.23335

Sequence Information:

  • Length: 689
  • Mass: 65131
  • Checksum: EB6106E02F6FA862
  • Sequence:
    • MAAATASPRS LLVLLQVVVL ALAQIRGPPG ERGPPGPPGP PGVPGSDGID GDNGPPGKAG 
PPGPKGEPGK AGPDGPDGKP GIDGLTGAKG EPGPMGIPGV KGQPGLPGPP GLPGPGFAGP 
PGPPGPVGLP GEIGIRGPKG DPGPDGPSGP PGPPGKPGRP GTIQGLEGSA DFLCPTNCPP 
GMKGPPGLQG VKGHAGKRGI LGDPGHQGKP GPKGDVGASG EQGIPGPPGP QGIRGYPGMA 
GPKGETGPHG YKGMVGAIGA TGPPGEEGPR GPPGRAGEKG DEGSPGIRGP QGITGPKGAT 
GPPGINGKDG TPGTPGMKGS AGQAGQPGSP GHQGLAGVPG QPGTKGGPGD QGEPGPQGLP 
GFSGPPGKEG EPGPRGEIGP QGIMGQKGDQ GERGPVGQPG PQGRQGPKGE QGPPGIPGPQ 
GLPGVKGDKG SPGKTGPRGK VGDPGVAGLP GEKGEKGESG EPGPKGQQGV RGEPGYPGPS 
GDAGAPGVQG YPGPPGPRGL AGNRGVPGQP GRQGVEGRDA TDQHIVDVAL KMLQEQLAEV 
AVSAKREALG AVGMMGPPGP PGPPGYPGKQ GPHGHPGPRG VPGIVGAVGQ IGNTGPKGKR 
GEKGDPGEVG RGHPGMPGPP GIPGLPGRPG QAINGKDGDR GSPGAPGEAG RPGLPGPVGL 
PGFCEPAACL GASAYASARL TEPGSIKGP

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.