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Aliases for COL11A2 Gene

Aliases for COL11A2 Gene

  • Collagen, Type XI, Alpha 2 2 3
  • DFNA13 3 6
  • DFNB53 3 6
  • FBCG2 3 6
  • STL3 3 6
  • Pro-A2 Chain Of Collagen Type XI 3
  • Collagen Alpha-2(XI) Chain 3
  • HKE5 3
  • PARP 3

External Ids for COL11A2 Gene

Previous HGNC Symbols for COL11A2 Gene

  • DFNA13
  • DFNB53

Previous GeneCards Identifiers for COL11A2 Gene

  • GC06M033133
  • GC06M033177
  • GC06M033238
  • GC06M032872

Summaries for COL11A2 Gene

Entrez Gene Summary for COL11A2 Gene

  • This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]

GeneCards Summary for COL11A2 Gene

COL11A2 (Collagen, Type XI, Alpha 2) is a Protein Coding gene. Diseases associated with COL11A2 include stickler syndrome, type iii and otospondylomegaepiphyseal dysplasia. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include protein binding, bridging and extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL11A2 Gene

  • May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils

Gene Wiki entry for COL11A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL11A2 Gene

Genomics for COL11A2 Gene

Regulatory Elements for COL11A2 Gene

Transcription factor binding sites by QIAGEN in the COL11A2 gene promoter:

Genomic Location for COL11A2 Gene

Start:
33,162,681 bp from pter
End:
33,192,499 bp from pter
Size:
29,819 bases
Orientation:
Minus strand

Genomic View for COL11A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL11A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for COL11A2 Gene

  • Protein details for COL11A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13942-COBA2_HUMAN
    Recommended name:
    Collagen alpha-2(XI) chain
    Protein Accession:
    P13942
    Secondary Accessions:
    • A6NLX2
    • E7ER90
    • Q07751
    • Q13271
    • Q13272
    • Q13273
    • Q5JP94
    • Q5SUI8
    • Q7Z6C3
    • Q99866
    • Q9UIP9

    Protein attributes for COL11A2 Gene

    Size:
    1736 amino acids
    Molecular mass:
    171791 Da
    Quaternary structure:
    • Trimers composed of three different chains: alpha 1(XI), alpha 2(XI), and alpha 3(XI). Alpha 3(XI) is a post-translational modification of alpha 1(II). Alpha 1(V) can also be found instead of alpha 3(XI)=1(II)

    Alternative splice isoforms for COL11A2 Gene

neXtProt entry for COL11A2 Gene

Proteomics data for COL11A2 Gene at MOPED

Post-translational modifications for COL11A2 Gene

  • A disulfide-bonded peptide called proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing and is subsequently retained in the cartilage matrix from which it can be isolated in significant amounts
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
  • Glycosylation at Asn1604
  • Modification sites at PhosphoSitePlus

Other Protein References for COL11A2 Gene

Antibody Products

No data available for DME Specific Peptides for COL11A2 Gene

Domains for COL11A2 Gene

Gene Families for COL11A2 Gene

HGNC:

Graphical View of Domain Structure for InterPro Entry

P13942

UniProtKB/Swiss-Prot:

COBA2_HUMAN :
  • P13942
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).
  • Contains 8 collagen-like domains.
  • Contains 1 fibrillar collagen NC1 domain.
  • Contains 1 laminin G-like domain.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL11A2: view

Function for COL11A2 Gene

Molecular function for COL11A2 Gene

GENATLAS Biochemistry: collagen,type XI,alpha 2,fibril forming,with chondrocyte specific enhancer (see also KE@), expressed in hyaline cartilage,in the ocular vitreous, in the nucleus pulposus of the intervertebral disc and in the inner ear,playing an essential role in maintaining the interfibrillar spacing and fibril diameter of type II collagen
UniProtKB/Swiss-Prot Function: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils

Gene Ontology (GO) - Molecular Function for COL11A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent --
GO:0005515 protein binding IPI 17703188
GO:0030020 extracellular matrix structural constituent conferring tensile strength NAS 7859284
GO:0030674 protein binding, bridging NAS 10677296
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL11A2: view
genes like me logo Genes that share phenotypes with COL11A2: view

Animal Models for COL11A2 Gene

MGI Knock Outs for COL11A2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL11A2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for COL11A2 Gene

Localization for COL11A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL11A2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL11A2 Gene COMPARTMENTS Subcellular localization image for COL11A2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
golgi apparatus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for COL11A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer --
GO:0005592 collagen type XI trimer NAS 7859284
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005840 ribosome --
genes like me logo Genes that share ontologies with COL11A2: view

Pathways for COL11A2 Gene

genes like me logo Genes that share pathways with COL11A2: view

Gene Ontology (GO) - Biological Process for COL11A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development NAS 7859284
GO:0001503 ossification --
GO:0001894 tissue homeostasis --
GO:0002062 chondrocyte differentiation --
GO:0007605 sensory perception of sound IMP 10581026
genes like me logo Genes that share ontologies with COL11A2: view

Compounds for COL11A2 Gene

(2) Novoseek inferred chemical compound relationships for COL11A2 Gene

Compound -log(P) Hits PubMed IDs
proline 22.7 3
arginine 0 3
genes like me logo Genes that share compounds with COL11A2: view

Transcripts for COL11A2 Gene

Unigene Clusters for COL11A2 Gene

Collagen, type XI, alpha 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL11A2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for COL11A2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL11A2 Gene

No ASD Table

Relevant External Links for COL11A2 Gene

GeneLoc Exon Structure for
COL11A2
ECgene alternative splicing isoforms for
COL11A2

Expression for COL11A2 Gene

mRNA expression in normal human tissues for COL11A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL11A2 Gene

This gene is overexpressed in Pituitary (10.3), Brain - Cerebellum (4.8), and Brain - Cerebellar Hemisphere (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL11A2 Gene

SOURCE GeneReport for Unigene cluster for COL11A2 Gene Hs.390171

genes like me logo Genes that share expressions with COL11A2: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for COL11A2 Gene

Orthologs for COL11A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL11A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL11A2 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL11A2 35
  • 89.06 (n)
  • 95.33 (a)
COL11A2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL11A2 35
  • 91.65 (n)
  • 96.19 (a)
COL11A2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col11a2 35
  • 85.51 (n)
  • 91.09 (a)
Col11a2 16
Col11a2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL11A2 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col11a2 35
  • 85.46 (n)
  • 92.45 (a)
lizard
(Anolis carolinensis)
Reptilia COL11A2 36
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii col11a2 35
  • 71.72 (n)
  • 80.19 (a)
col11a2 36
  • 60 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToMany
Species with no ortholog for COL11A2:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL11A2 Gene

ENSEMBL:
Gene Tree for COL11A2 (if available)
TreeFam:
Gene Tree for COL11A2 (if available)

Paralogs for COL11A2 Gene

genes like me logo Genes that share paralogs with COL11A2: view

Variants for COL11A2 Gene

Sequence variations from dbSNP and Humsavar for COL11A2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs734181 -- 33,162,431(-) CTTCT(C/G)GGTGT downstream-variant-500B
rs915992 -- 33,172,884(-) TGGGG(C/G)GNATT intron-variant
rs970901 Benign 33,173,698(-) AGGGT(A/G)AGTGT intron-variant
rs970902 -- 33,173,612(-) GCTGA(A/G)TTCCC intron-variant
rs970903 -- 33,173,716(-) CATGG(C/G)CCCCC synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for COL11A2 Gene

Variant ID Type Subtype PubMed ID
nsv885767 CNV Loss 21882294
nsv528907 CNV Loss 19592680
nsv348539 CNV Loss 16902084
nsv885768 CNV Loss 21882294

Relevant External Links for COL11A2 Gene

HapMap Linkage Disequilibrium report
COL11A2
Human Gene Mutation Database (HGMD)
COL11A2
Locus Specific Mutation Databases (LSDB)
COL11A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL11A2 Gene

Disorders for COL11A2 Gene

(6) OMIM Diseases for COL11A2 Gene (120290)

UniProtKB/Swiss-Prot

COBA2_HUMAN
  • Stickler syndrome 3 (STL3) [MIM:184840]: An autosomal dominant non-ocular form of Stickler syndrome. Classical Stickler syndrome associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular symptoms are absent. 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:9506662}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150]: A skeletal dysplasia characterized by enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and sensorineural hearing loss. Patients have typical facial features, including mid-face hypoplasia with a short upturned nose and depressed nasal bridge. Cleft palate and a small mandible are also common findings. {ECO:0000269 PubMed:7859284}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]: An autosomal dominant disorder characterized by neonatal micrognathia and rhizomelic chondrodysplasia with dumbbell-shaped femora and humeri, and regression of bone changes and normal growth in later years. WZS is also referred to as heterozygous OSMED. {ECO:0000269 PubMed:9805126}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:10581026}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]: A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:16033917, ECO:0000269 PubMed:25633957}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Fibrochondrogenesis 2 (FBCG2) [MIM:614524]: A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia. {ECO:0000269 PubMed:22246659}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(10) Novoseek inferred disease relationships for COL11A2 Gene

Disease -log(P) Hits PubMed IDs
osmed 96.2 11
weissenbacher-zweymuller syndrome 90.4 4
osteochondrodysplasias 72.3 1
collagen fibril 48.2 1
osteoarthritis 45.2 2

Relevant External Links for COL11A2

GeneTests
COL11A2
GeneReviews
COL11A2
Genetic Association Database (GAD)
COL11A2
Human Genome Epidemiology (HuGE) Navigator
COL11A2
genes like me logo Genes that share disorders with COL11A2: view

Publications for COL11A2 Gene

  1. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. (PMID: 7859284) Vikkula M. … Brunner H.G. (Cell 1995) 3 4 23 48
  2. The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene. (PMID: 8838804) Lui V.C. … Cheah K.S. (Genomics 1996) 3 4 23
  3. Molecular cloning of PARP (proline/arginine-rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2-terminal domain of the collagen alpha 2(XI) chain. (PMID: 8325374) Zhidkova N.I. … Mayne R. (FEBS Lett. 1993) 3 4 23
  4. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen. (PMID: 9506662) Sirko-Osadsa D.A. … Robin N.H. (J. Pediatr. 1998) 3 4 23
  5. Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymueller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). (PMID: 9805126) Pihlajamaa T. … Ala-Kokko L. (Am. J. Med. Genet. 1998) 3 4 23

Products for COL11A2 Gene

Sources for COL11A2 Gene

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