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COL2A1 Gene(Protein Coding)

Collagen Type II Alpha 1 Chain

GCID:
GC12M047972
GIFtS:
68
Genes Participants
UDN Logo

Aliases for COL2A1 Gene

Aliases for COL2A1 Gene

  • Collagen Type II Alpha 1 Chain 2 3 5
  • Arthroophthalmopathy, Progressive (Stickler Syndrome) 2 3
  • Collagen, Type II, Alpha 1 2 3
  • Alpha-1 Type II Collagen 3 4
  • Collagen, Type II, Alpha 1 (Primary Osteoarthritis, Spondyloepiphyseal Dysplasia, Congenital) 2
  • Collagen II, Alpha-1 Polypeptide 3
  • Collagen Alpha-1(II) Chain 3
  • Collagen Type II Alpha 1 2
  • Cartilage Collagen 3
  • Chondrocalcin 3
  • COL11A3 3
  • ANFH 3
  • STL1 3
  • SEDC 3
  • AOM 3

External Ids for COL2A1 Gene

Previous HGNC Symbols for COL2A1 Gene

  • SEDC
  • AOM

Previous GeneCards Identifiers for COL2A1 Gene

  • GC12M048379
  • GC12M048266
  • GC12M048083
  • GC12M046653
  • GC12M045398
  • GC12M048366

Summaries for COL2A1 Gene

Entrez Gene Summary for COL2A1 Gene

  • 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]

GeneCards Summary for COL2A1 Gene

COL2A1 (Collagen Type II Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL2A1 include Kniest Dysplasia and Sed Congenita. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. GO annotations related to this gene include identical protein binding and platelet-derived growth factor binding. An important paralog of this gene is COL1A1.

UniProtKB/Swiss-Prot for COL2A1 Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL2A1 Gene

Genomics for COL2A1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for COL2A1 Gene

Enhancers for COL2A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G047962 1.3 ENCODE dbSUPER 11.1 +60.7 60659 3.3 HDGF PKNOX1 MLX AGO1 ARID4B SIN3A ZNF2 SLC30A9 ZNF207 ZNF143 TMEM106C RPL37P19 COL2A1 ENSG00000205537 RAPGEF3 SLC48A1 CCDC184 ASB8 ZNF641 LOC105369752
GH12G047953 0.8 ENCODE dbSUPER 11 +71.0 70984 0.7 ZNF274 SCRT2 ZIC2 ZKSCAN1 COL2A1 ENSG00000205537 CCDC184 ASB8 ZNF641 ENSG00000279840 VDR
GH12G047954 0.6 ENCODE dbSUPER 11 +70.4 70394 0.2 ZIC2 COL2A1 ENSG00000205537 ASB8 CCDC184 ENSG00000279840 VDR
GH12G047959 0.4 ENCODE 11 +65.1 65119 0.7 ZNF146 TMEM106C COL2A1 ENSG00000205537 CCDC184 ASB8 ENSG00000279840 VDR
GH12G048000 1.5 FANTOM5 Ensembl ENCODE 2.7 +23.3 23254 2.9 PKNOX1 SIN3A ZNF2 GLIS2 KLF7 SP3 WT1 PRDM4 SP7 CTCF RPL37P19 ZNF641 OR5BK1P TMEM106C COL2A1 ENSG00000258203 LOC105369752
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL2A1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the COL2A1 gene promoter:

Genomic Location for COL2A1 Gene

Chromosome:
12
Start:
47,972,965 bp from pter
End:
48,025,286 bp from pter
Size:
52,322 bases
Orientation:
Minus strand

Genomic View for COL2A1 Gene

Genes around COL2A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL2A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL2A1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for COL2A1 Gene

Proteins for COL2A1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for COL2A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02458-CO2A1_HUMAN
    Recommended name:
    Collagen alpha-1(II) chain
    Protein Accession:
    P02458
    Secondary Accessions:
    • A6NGA0
    • Q12985
    • Q14009
    • Q14044
    • Q14045
    • Q14046
    • Q14047
    • Q14056
    • Q14058
    • Q16672
    • Q1JQ82
    • Q2V4X7
    • Q6LBY1
    • Q6LBY2
    • Q6LBY3
    • Q96IT5
    • Q99227
    • Q9UE38
    • Q9UE39
    • Q9UE40
    • Q9UE41
    • Q9UE42
    • Q9UE43

    Protein attributes for COL2A1 Gene

    Size:
    1487 amino acids
    Molecular mass:
    141785 Da
    Quaternary structure:
    • Homotrimers of alpha 1(II) chains.
    SequenceCaution:
    • Sequence=AAH07252.1; Type=Frameshift; Positions=1198; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COL2A1 Gene

    Alternative splice isoforms for COL2A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL2A1 Gene

Protein Expression for COL2A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for COL2A1 Gene

  • Probably 3-hydroxylated on prolines by LEPREL1 (By similarity). Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains.
  • The N-telopeptide is covalently linked to the helical COL2 region of alpha 1(IX), alpha 2(IX) and alpha 3(IX) chain. The C-telopeptide is covalently linked to an another site in the helical region of alpha 3(IX) COL2.
  • Glycosylation at Lys121, posLast=218218, posLast=230230, posLast=239239, posLast=305305, Lys539, Lys551, posLast=10611061, and posLast=13191319
  • Modification sites at PhosphoSitePlus

Other Protein References for COL2A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for COL2A1

No data available for DME Specific Peptides for COL2A1 Gene

Domains & Families for COL2A1 Gene

Gene Families for COL2A1 Gene

HGNC:

Protein Domains for COL2A1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COL2A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02458

UniProtKB/Swiss-Prot:

CO2A1_HUMAN :
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
  • Belongs to the fibrillar collagen family.
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL2A1: view

Function for COL2A1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line
  7. Flow Cytometry

Molecular function for COL2A1 Gene

GENATLAS Biochemistry:
collagen type II,alpha 1,fibril forming,chondrocalcin included,expressed in hyaline cartilage,in the ocular vitreous, in the nucleus pulposus of the intervertebral disc and in the inner ear
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for COL2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA --
GO:0030020 extracellular matrix structural constituent conferring tensile strength IC 8660302
GO:0042289 MHC class II protein binding IPI 9354468
GO:0042802 identical protein binding NAS 2587267
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL2A1: view
genes like me logo Genes that share phenotypes with COL2A1: view

Human Phenotype Ontology for COL2A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL2A1 Gene

MGI Knock Outs for COL2A1:

Animal Model Products

miRNA for COL2A1 Gene

miRTarBase miRNAs that target COL2A1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL2A1 Gene

Localization for COL2A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL2A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL2A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
nucleus 3
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for COL2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005585 collagen type II trimer IDA 8660302
GO:0005604 basement membrane IEA --
genes like me logo Genes that share ontologies with COL2A1: view

Pathways & Interactions for COL2A1 Gene

genes like me logo Genes that share pathways with COL2A1: view

SIGNOR curated interactions for COL2A1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for COL2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 1429602
GO:0001502 cartilage condensation IEA --
GO:0001503 ossification IEA --
GO:0001894 tissue homeostasis IEA --
GO:0001958 endochondral ossification IEA --
genes like me logo Genes that share ontologies with COL2A1: view

Drugs & Compounds for COL2A1 Gene

Products:

  1. Drug

(17) Drugs for COL2A1 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Collagenase clostridium histolyticum Approved, Investigational Pharma Target 0
Collagenase Pharma 0

(18) Additional Compounds for COL2A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL2A1: view

Transcripts for COL2A1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for COL2A1 Gene

(6) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(326) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COL2A1 Gene

Collagen, type II, alpha 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL2A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^
SP1:
SP2: -
SP3:
SP4:
SP5: -

ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^
SP1: -
SP2:
SP3:
SP4:
SP5:

ExUns: 50 ^ 51
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for COL2A1 Gene

GeneLoc Exon Structure for
COL2A1
ECgene alternative splicing isoforms for
COL2A1

Expression for COL2A1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COL2A1 Gene

mRNA expression in normal human tissues for COL2A1 Gene
mRNA expression by BioGPS for COL2A1 GenemRNA expression by GTEx for COL2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL2A1 Gene

This gene is overexpressed in Stomach (x20.7), Pituitary (x15.8), and Testis (x5.9).

Protein differential expression in normal tissues from HIPED for COL2A1 Gene

This gene is overexpressed in Vitreous humor (25.0), Breast (11.1), Plasma (9.5), and Fetal Liver (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL2A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of COL2A1 Gene:

COL2A1

SOURCE GeneReport for Unigene cluster for COL2A1 Gene:

Hs.408182

mRNA Expression by UniProt/SwissProt for COL2A1 Gene:

P02458-CO2A1_HUMAN
Tissue specificity: Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.

Evidence on tissue expression from TISSUES for COL2A1 Gene

  • Bone(4.8)
  • Blood(4.3)
  • Muscle(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL2A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with COL2A1: view

Primer Products

No data available for Protein tissue co-expression partners for COL2A1 Gene

Orthologs for COL2A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL2A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia COL2A1 34 35
  • 99.62 (n)
oppossum
(Monodelphis domestica)
 Mammalia COL2A1 35
  • 93 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia COL2A1 34 35
  • 92.58 (n)
cow
(Bos Taurus)
 Mammalia COL2A1 34 35
  • 92.31 (n)
rat
(Rattus norvegicus)
 Mammalia Col2a1 34
  • 89.55 (n)
mouse
(Mus musculus)
 Mammalia Col2a1 34 16 35
  • 89.08 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia COL2A1 35
  • 81 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves COL2A1 34 35
  • 79.82 (n)
lizard
(Anolis carolinensis)
 Reptilia COL2A1 35
  • 91 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia col2a1 34
  • 80.06 (n)
zebrafish
(Danio rerio)
 Actinopterygii col2a1b 35
  • 83 (a)
 OneToMany
col2a1a 34 35
  • 75.78 (n)
Dr.27172 34
fruit fly
(Drosophila melanogaster)
 Insecta Cg25C 35
  • 28 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7880 35
  • 57 (a)
 OneToMany
Species where no ortholog for COL2A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL2A1 Gene

ENSEMBL:
Gene Tree for COL2A1 (if available)
TreeFam:
Gene Tree for COL2A1 (if available)

Paralogs for COL2A1 Gene

Paralogs for COL2A1 Gene

(13) SIMAP similar genes for COL2A1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with COL2A1: view

Variants for COL2A1 Gene

Sequence variations from dbSNP and Humsavar for COL2A1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs121912865 Pathogenic, Osteoarthritis with mild chondrodysplasia (OSCDP) [MIM:604864] 47,982,886(-) GTCCC(C/T)GTGGC downstream-variant-500B, reference, missense
rs121912867 Pathogenic, Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] 47,982,142(-) AGAAA(A/G)GCCCT intron-variant, reference, missense
rs121912870 other, Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] 47,975,971(-) AAACC(A/G)GCCCT reference, missense
rs121912872 Pathogenic, Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508] 47,994,440(-) AAGGG(A/G)TCCGC reference, missense
rs121912874 Pathogenic, Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] 47,978,329(-) GGCAA(C/T)GTGGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL2A1 Gene

Variant ID Type Subtype PubMed ID
esv3580262 CNV loss 25503493
nsv519659 CNV loss 19592680
nsv525456 CNV gain 19592680
nsv558789 CNV loss 21841781
nsv832401 CNV loss 17160897

Variation tolerance for COL2A1 Gene

Residual Variation Intolerance Score: 2.21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.95; 87.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL2A1 Gene

Human Gene Mutation Database (HGMD)
COL2A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL2A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL2A1 Gene

Disorders for COL2A1 Gene

MalaCards: The human disease database

(79) MalaCards diseases for COL2A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
kniest dysplasia
  • kd
sed congenita
  • spondyloepiphyseal dysplasia congenita
avascular necrosis of the femoral head
  • avascular necrosis of femoral head, primary
czech dysplasia
  • czech dysplasia metatarsal type
achondrogenesis, type ii or hypochondrogenesis
  • achondrogenesis, type ii
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO2A1_HUMAN
  • Achondrogenesis 2 (ACG2) [MIM:200610]: A disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones. {ECO:0000269 PubMed:10745044, ECO:0000269 PubMed:10797431, ECO:0000269 PubMed:15054848, ECO:0000269 PubMed:17994563, ECO:0000269 PubMed:2572591, ECO:0000269 PubMed:7757081, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:7829510}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Avascular necrosis of the femoral head, primary (ANFH) [MIM:608805]: A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. {ECO:0000269 PubMed:15930420, ECO:0000269 PubMed:21671384}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Czech dysplasia (CZECHD) [MIM:609162]: A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes. {ECO:0000269 PubMed:18553548, ECO:0000269 PubMed:19764028, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:8244341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Kniest dysplasia (KD) [MIM:156550]: Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. {ECO:0000269 PubMed:7874117, ECO:0000269 PubMed:8863156}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Legg-Calve-Perthes disease (LCPD) [MIM:150600]: Characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. {ECO:0000269 PubMed:17394019}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness. {ECO:0000269 PubMed:9800905}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteoarthritis with mild chondrodysplasia (OSCDP) [MIM:604864]: Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage. {ECO:0000269 PubMed:1975693, ECO:0000269 PubMed:1985108, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:8507190}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]: Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported. {ECO:0000269 PubMed:10745044, ECO:0000269 PubMed:14729840, ECO:0000269 PubMed:15643621}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]: A eye disease that most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated. {ECO:0000269 PubMed:11007540, ECO:0000269 PubMed:15671297}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]: A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones. {ECO:0000269 PubMed:16088915, ECO:0000269 PubMed:7550321, ECO:0000269 Ref.39}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. {ECO:0000269 PubMed:10678662, ECO:0000269 PubMed:11746045, ECO:0000269 PubMed:2339128, ECO:0000269 PubMed:2543071, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:8019561, ECO:0000269 PubMed:8325895, ECO:0000269 PubMed:8423604}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepiphyseal dysplasia, Stanescu type (SEDSTN) [MIM:616583]: An autosomal dominant spondyloepiphyseal dysplasia characterized by glycoproteins accumulation in chondrocytes. Clinical features include progressive joint contractures, premature degenerative joint disease particularly in the knee, hip and finger joints, and osseous distention of the metaphyseal ends of the phalanges causing swolling of interphalangeal joints of the hands. Radiological features include generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. {ECO:0000269 PubMed:26183434}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloperipheral dysplasia (SPD) [MIM:271700]: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. {ECO:0000269 PubMed:15316962}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Stickler syndrome 1 (STL1) [MIM:108300]: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. {ECO:0000269 PubMed:11007540, ECO:0000269 PubMed:20513134, ECO:0000269 PubMed:7977371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508]: An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild. {ECO:0000269 PubMed:16752401, ECO:0000269 PubMed:17721977, ECO:0000269 PubMed:8317498}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COL2A1

Genetic Association Database (GAD)
COL2A1
Human Genome Epidemiology (HuGE) Navigator
COL2A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL2A1
genes like me logo Genes that share disorders with COL2A1: view

No data available for Genatlas for COL2A1 Gene

Publications for COL2A1 Gene

  1. A COL2A1 gene polymorphism is related with advanced stages of osteoarthritis of the knee in Mexican Mestizo population. (PMID: 19756630) GA!lvez-Rosas A. … Miranda-Duarte A. (Rheumatol. Int. 2010) 3 22 46 64
  2. COL2A1 gene polymorphisms and susceptibility to osteoarthritis of the hand in Finnish women. (PMID: 19019890) HAomAolAoinen S. … Leino-Arjas P. (Ann. Rheum. Dis. 2009) 3 22 46 64
  3. COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. (PMID: 19387081) Metlapally R. … Young T.L. (Invest. Ophthalmol. Vis. Sci. 2009) 3 22 46 64
  4. Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. (PMID: 18978274) Kenet G. … Hayek S. (J Bone Joint Surg Br 2008) 3 22 46 64
  5. Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis. (PMID: 18523590) Jamieson S.E. … Blackwell J.M. (PLoS ONE 2008) 3 22 46 64

Products for COL2A1 Gene

  • Cloud-Clone Corp. Antibodies for COL2A1
  • Cloud-Clone Corp. Proteins for COL2A1
  • Cloud-Clone Corp Assay Kits for COL2A1

Sources for COL2A1 Gene

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