COL9A2 | ENSG00000049089 | NCBI 1298

Details for: COL9A2

Gene ID: 1298

Symbol: COL9A2

Ensembl ID: ENSG00000049089

Description: collagen type IX alpha 2 chain

Associated with

Assembly of collagen fibrils and other multimeric structures
(R-HSA-2022090)
Axon guidance
(R-HSA-422475)
Collagen biosynthesis and modifying enzymes
(R-HSA-1650814)
Collagen chain trimerization
(R-HSA-8948216)
Collagen degradation
(R-HSA-1442490)
Collagen formation
(R-HSA-1474290)
Degradation of the extracellular matrix
(R-HSA-1474228)
Developmental biology
(R-HSA-1266738)
Ecm proteoglycans
(R-HSA-3000178)
Integrin cell surface interactions
(R-HSA-216083)
Ncam1 interactions
(R-HSA-419037)
Ncam signaling for neurite out-growth
(R-HSA-375165)
Nervous system development
(R-HSA-9675108)
Signaling by pdgf
(R-HSA-186797)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
Collagen-containing extracellular matrix
(GO:0062023)
Collagen type ix trimer
(GO:0005594)
Endoplasmic reticulum lumen
(GO:0005788)
Extracellular matrix organization
(GO:0030198)
Extracellular matrix structural constituent conferring tensile strength
(GO:0030020)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Skeletal system development
(GO:0001501)

Other Information

Proteins

CO9A2_HUMAN

Genular Protein ID: 3034337266

Symbol: CO9A2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q14055 B2RMP9

Database IDs:

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

The gene details are incomplete or unavailable at the moment.

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.

Details for: COL9A2

Associated with

Other Information

Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule. PubMed ID: 9707347

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1. PubMed ID: 8454052

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. PubMed ID: 10364514

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. PubMed ID: 21671392

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype. PubMed ID: 31090205

Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene. PubMed ID: 33356723

An allele of COL9A2 associated with intervertebral disc disease. PubMed ID: 10411504

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. PubMed ID: 11565064

Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. PubMed ID: 28887846