Details for: COL9A2

Gene ID: 1298

Symbol: COL9A2

Ensembl ID: ENSG00000049089

Description: collagen type IX alpha 2 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: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.23
    Marker Score: 653
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.64
    Marker Score: 961
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.56
    Marker Score: 6548
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.47
    Marker Score: 1777.5
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.29
    Marker Score: 3265
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.29
    Marker Score: 1789
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.26
    Marker Score: 3014
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.12
    Marker Score: 1511
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.1
    Marker Score: 2305
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251779
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.01
    Marker Score: 1246
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71796
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48021
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.99
    Marker Score: 544
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 494
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 448
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5275
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2731
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.9
    Marker Score: 362
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 314
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5275
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.86
    Marker Score: 425
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.8
    Marker Score: 1319
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.78
    Marker Score: 878
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1259
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 384
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.72
    Marker Score: 1591
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 547
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 634
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.69
    Marker Score: 702
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2851.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.63
    Marker Score: 932
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.6
    Marker Score: 1143
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.59
    Marker Score: 1001
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.56
    Marker Score: 270
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.56
    Marker Score: 482
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 438
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.55
    Marker Score: 776
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.54
    Marker Score: 8503
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.54
    Marker Score: 1398
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.54
    Marker Score: 242.5
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.54
    Marker Score: 567
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.53
    Marker Score: 182
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.53
    Marker Score: 103
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.49
    Marker Score: 16982
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.49
    Marker Score: 182
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.49
    Marker Score: 164
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.48
    Marker Score: 870
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.47
    Marker Score: 196
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.47
    Marker Score: 1064
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.46
    Marker Score: 216
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.45
    Marker Score: 273
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.45
    Marker Score: 145
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.45
    Marker Score: 9565
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.45
    Marker Score: 1538
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.44
    Marker Score: 208
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.43
    Marker Score: 102
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.43
    Marker Score: 3733
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.43
    Marker Score: 328
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.42
    Marker Score: 740
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.42
    Marker Score: 729
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.41
    Marker Score: 221
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.4
    Marker Score: 197
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.39
    Marker Score: 421
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.39
    Marker Score: 380
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.39
    Marker Score: 122
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.38
    Marker Score: 12959
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.38
    Marker Score: 144
  • Cell Name: basophil (CL0000767)
    Fold Change: 0.38
    Marker Score: 181
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.37
    Marker Score: 218
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.37
    Marker Score: 175
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.37
    Marker Score: 353.5
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.36
    Marker Score: 6453
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.36
    Marker Score: 1399
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.36
    Marker Score: 151
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.36
    Marker Score: 235
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.36
    Marker Score: 212
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.35
    Marker Score: 237
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.35
    Marker Score: 184
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.35
    Marker Score: 1284
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.34
    Marker Score: 222
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.34
    Marker Score: 317
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.34
    Marker Score: 836
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.33
    Marker Score: 210
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.33
    Marker Score: 87
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.32
    Marker Score: 171
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.31
    Marker Score: 2319
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.31
    Marker Score: 180
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.31
    Marker Score: 207
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.31
    Marker Score: 359
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.31
    Marker Score: 111
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.31
    Marker Score: 107
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.31
    Marker Score: 202
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.3
    Marker Score: 120
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.29
    Marker Score: 1229
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.29
    Marker Score: 1726
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.29
    Marker Score: 177

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Other Information

**Key characteristics:** * Colinearity: COL9A2 is a member of the collagen family of proteins, which are essential for the structure and integrity of tissues. * Structure: The gene encodes for a secreted form of collagen type IX, which is a large extracellular matrix protein. * Expression: COL9A2 is highly expressed in various cell types, including non-pigmented ciliary epithelial cells, secondary lens fibers, pigmented epithelial cells, lens epithelial cells, kidney collecting duct principal cells, Mueller cells, oligodendrocytes, and anterior lens cells. * Functions: * Assembly of collagen fibrils and other multimeric structures. * Axon guidance. * Collagen biosynthesis and modifying enzymes. * Collagen chain trimerization. * Collagen degradation. * Collagen formation. * Degradation of the extracellular matrix. **Pathways and functions:** COL9A2 plays crucial roles in various pathways and functions, including: * Assembly of collagen fibrils and other multimeric structures: COL9A2 is a key component of collagen fibrils, which provide structural support and elasticity to tissues. * Axon guidance: COL9A2 is involved in axon guidance, where it helps to maintain the integrity of neural processes and their interactions with the surrounding environment. * Collagen biosynthesis and modifying enzymes: COL9A2 is a key enzyme in the biosynthesis of collagen, and its deficiency leads to the development of elastic disorders. * Signal transduction: COL9A2 is a signaling molecule that is involved in various cellular processes, including cell migration, proliferation, and differentiation. **Clinical significance:** Mutations in COL9A2 have been linked to several human diseases, including: * Dry eyes: Mutations in COL9A2 are a common cause of dry eyes, a condition characterized by a lack of tears and a dry, itchy feeling in the eyes. * Cataracts: Mutations in COL9A2 are also associated with cataracts, a clouding of the lens that can lead to vision loss. * Optic nerves diseases: Mutations in COL9A2 are a rare cause of optic nerve diseases, such as glaucoma and retinal detachment.

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 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 9 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 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 5 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 SAM 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 UCSC 1 UniProtKB 2 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. For the full schema, download it here.