Details for: COL9A3
Associated with
Other Information
Genular Protein ID: 3013790283
Symbol: CO9A3_HUMAN
Name: Collagen alpha-3(IX) chain
UniProtKB Accession Codes:
Database IDs:
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
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
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
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
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.