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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes FDA approved drug targets Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
q13.11
Chromosome location (bp)
47972967 - 48004554
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces....show less
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations COSMIC Translocations Disease related genes FDA approved drug targets Biotech drugs Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Musculoskeletal diseases Skeletal diseases Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001501[skeletal system development] GO:0005201[extracellular matrix structural constituent] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005581[collagen trimer] GO:0005585[collagen type II trimer] GO:0005592[collagen type XI trimer] GO:0005615[extracellular space] GO:0005788[endoplasmic reticulum lumen] GO:0007601[visual perception] GO:0007605[sensory perception of sound] GO:0030020[extracellular matrix structural constituent conferring tensile strength] GO:0030198[extracellular matrix organization] GO:0030199[collagen fibril organization] GO:0030903[notochord development] GO:0031012[extracellular matrix] GO:0042289[MHC class II protein binding] GO:0042802[identical protein binding] GO:0043394[proteoglycan binding] GO:0046872[metal ion binding] GO:0048407[platelet-derived growth factor binding] GO:0048856[anatomical structure development] GO:0051216[cartilage development] GO:0060272[embryonic skeletal joint morphogenesis] GO:0062023[collagen-containing extracellular matrix] GO:0110165[cellular anatomical entity]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations COSMIC Translocations Disease related genes FDA approved drug targets Biotech drugs Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Musculoskeletal diseases Skeletal diseases Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001501[skeletal system development] GO:0001502[cartilage condensation] GO:0001503[ossification] GO:0001894[tissue homeostasis] GO:0001958[endochondral ossification] GO:0002062[chondrocyte differentiation] GO:0003007[heart morphogenesis] GO:0005201[extracellular matrix structural constituent] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005581[collagen trimer] GO:0005585[collagen type II trimer] GO:0005592[collagen type XI trimer] GO:0005604[basement membrane] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0005788[endoplasmic reticulum lumen] GO:0006029[proteoglycan metabolic process] GO:0007417[central nervous system development] GO:0007601[visual perception] GO:0007605[sensory perception of sound] GO:0010468[regulation of gene expression] GO:0030020[extracellular matrix structural constituent conferring tensile strength] GO:0030198[extracellular matrix organization] GO:0030199[collagen fibril organization] GO:0030903[notochord development] GO:0031012[extracellular matrix] GO:0035108[limb morphogenesis] GO:0042289[MHC class II protein binding] GO:0042472[inner ear morphogenesis] GO:0042802[identical protein binding] GO:0043394[proteoglycan binding] GO:0046872[metal ion binding] GO:0048407[platelet-derived growth factor binding] GO:0048705[skeletal system morphogenesis] GO:0048839[inner ear development] GO:0048856[anatomical structure development] GO:0051216[cartilage development] GO:0060021[roof of mouth development] GO:0060174[limb bud formation] GO:0060272[embryonic skeletal joint morphogenesis] GO:0060348[bone development] GO:0060351[cartilage development involved in endochondral bone morphogenesis] GO:0062023[collagen-containing extracellular matrix] GO:0071599[otic vesicle development] GO:0071773[cellular response to BMP stimulus] GO:0097065[anterior head development] GO:0097192[extrinsic apoptotic signaling pathway in absence of ligand] GO:0110165[cellular anatomical entity] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
The Human Protein Atlas project is funded
