Aliases for COL11A2 Gene
Aliases for COL11A2 Gene
External Ids for COL11A2 Gene
- HGNC: 2187
- Entrez Gene: 1302
- Ensembl: ENSG00000204248
- OMIM: 120290
- UniProtKB: P13942
Previous HGNC Symbols for COL11A2 Gene
- DFNA13
- DFNB53
Previous GeneCards Identifiers for COL11A2 Gene
- GC06M033133
- GC06M033177
- GC06M033238
- GC06M033130
- GC06M032872
Summaries 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 Chain) is a Protein Coding gene. Diseases associated with COL11A2 include Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant and Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL5A1.
UniProtKB/Swiss-Prot for COL11A2 Gene
-
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
Additional gene information for COL11A2 Gene
- Monarch Initiative
- Search for COL11A2 at DataMed
- Search for COL11A2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL11A2 Gene
Genomics for COL11A2 Gene
GeneHancer (GH) Regulatory Elements for COL11A2 Gene
Promoters and enhancers for COL11A2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around COL11A2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the COL11A2 gene promoter:
Regulatory Element Products
Genomic Locations for COL11A2 Gene
Genomic Locations for COL11A2 Gene
- chr6:33,162,681-33,193,152
- (GRCh38/hg38)
- Size:
- 30,472 bases
- Orientation:
- Minus strand
- chr6:33,130,458-33,160,276
- (GRCh37/hg19)
Genomic View for COL11A2 Gene
Genes around COL11A2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p21.32 by Entrez Gene
- 6p21.32 by HGNC
- 6p21.32 by Ensembl
COL11A2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COL11A2 Gene
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
- 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).
Protein Expression for COL11A2 Gene
Post-translational modifications for COL11A2 Gene
- Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
- 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.
- Glycosylation at posLast=16041604
- Modification sites at PhosphoSitePlus
Other Protein References for COL11A2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for COL11A2
- Invitrogen Antibodies for COL11A2
- GeneTex COL11A2 Antibody for COL11A2
Protein Products
-
OriGene Purified Proteins for COL11A2
- Search Origene for MassSpec and Protein Over-expression Lysates for COL11A2
- Origene Custom Protein Services for COL11A2
- Search GeneTex for Proteins for COL11A2
Assay Products
No data available for DME Specific Peptides for COL11A2 Gene
Domains & Families for COL11A2 Gene
Gene Families for COL11A2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted secreted proteins
Protein Domains for COL11A2 Gene
Suggested Antigen Peptide Sequences for COL11A2 Gene
Graphical View of Domain Structure for InterPro Entry
P13942UniProtKB/Swiss-Prot:
COBA2_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.
Function for COL11A2 Gene
Molecular function for COL11A2 Gene
- UniProtKB/Swiss-Prot Function:
- May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
- 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
Phenotypes From GWAS Catalog for COL11A2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | IEA | -- |
| 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 | -- |
Phenotypes for COL11A2 Gene
- MGI mutant phenotypes for COL11A2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for COL11A2:
Animal Models for COL11A2 Gene
- MGI Knock Outs for COL11A2:
-
- Col11a2 Col11a2<tm1Mne>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL11A2
-
CRISPR Products
-
OriGene CRISPR knockouts for COL11A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL11A2
- genomics-online: gRNA clones - Search results for 86 available COL11A2 gene related products
- Overview of 86 available COL11A2 gene related products
- Applied Biological Materials CRISPR for COL11A2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL11A2
- GenScript: Design CRISPR guide RNA sequences for COL11A2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL11A2
- Browse OriGene Inhibitory RNA Products For COL11A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL11A2
- genomics-online: shRNA clones - Search results for 86 available COL11A2 gene related products
- Overview of 86 available COL11A2 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL11A2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL11A2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for COL11A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL11A2
- Applied Biological Materials Clones for COL11A2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
- ESI BIO PureStem 7PEND24, NCr-fac & Meso-prx Progenitor for COL11A2
-
Horizon Cell Lines for COL11A2
No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for COL11A2 Gene
Localization for COL11A2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL11A2 Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 3 |
| plasma membrane | 2 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005592 | collagen type XI trimer | NAS | 7859284 |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0005840 | ribosome | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL11A2 Gene
Pathways & Interactions for COL11A2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | Phospholipase-C Pathway |
.56
|
|
| 5 | Degradation of the extracellular matrix | ||
Pathways by source for COL11A2 Gene
2 BioSystems pathways for COL11A2 Gene
1 KEGG pathway for COL11A2 Gene
15 Qiagen pathways for COL11A2 Gene
Interacting Proteins for COL11A2 Gene
Selected Interacting proteins:
P13942-COBA2_HUMAN
ENSP00000363840
for COL11A2 Gene via
IID
UniProtKB
MINT
STRING
GPS-Prot Interaction Network for COL11A2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | NAS | 7859284 |
| GO:0001649 | osteoblast differentiation | IEA | -- |
| GO:0001894 | tissue homeostasis | IEA | -- |
| GO:0002062 | chondrocyte differentiation | IEA | -- |
| GO:0007605 | sensory perception of sound | IMP | 9188673 |
No data available for SIGNOR curated interactions for COL11A2 Gene
Transcripts for COL11A2 Gene
mRNA/cDNA for COL11A2 Gene
- (96) Selected AceView cDNA sequences:
- (4) Additional mRNA sequences :
- (9) REFSEQ mRNAs :
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000341947 6425 bps (uc003ocx.1)
- ENST00000361917 6104 bps (uc003ocz.1)
- ENST00000374708 6209 bps (uc003ocy.2)
- ENST00000395194 1194 bps (uc003oda.4)
- ENST00000457788 2099 bps (uc063nui.1)
Unigene Clusters for COL11A2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COL11A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL11A2
- genomics-online: gRNA clones - Search results for 86 available COL11A2 gene related products
- Overview of 86 available COL11A2 gene related products
- Applied Biological Materials CRISPR for COL11A2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL11A2
- GenScript: Design CRISPR guide RNA sequences for COL11A2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL11A2
- Browse OriGene Inhibitory RNA Products For COL11A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL11A2
- genomics-online: shRNA clones - Search results for 86 available COL11A2 gene related products
- Overview of 86 available COL11A2 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL11A2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL11A2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for COL11A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL11A2
- Applied Biological Materials Clones for COL11A2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for COL11A2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Prechondrocytes Rib
- Chondrocytes Stylopod Epiphyseal End
- Chondrocytes Rib
- Chondrocytes Autopod Epiphyseal End
- Chondrocytes Branchial Arch 2
-
Cartilage (Muscoskeletal System)
- Prechondrocytes Autopod Epiphyseal End
- Prechondrocytes Rib
- Chondrocytes Stylopod Epiphyseal End
- Chondrocytes Rib
- Chondrocytes Autopod Epiphyseal End
-
Head Mesenchyme (Muscoskeletal System)
- Chondrocytes Branchial Arch 2
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for COL11A2 Gene
This gene is overexpressed in Pituitary (x10.3), Brain - Cerebellum (x4.8), and Brain - Cerebellar Hemisphere (x4.6).
This gene is overexpressed in Brain (35.8), Heart (17.2), Adipocyte (8.4), and Pancreas (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL11A2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of COL11A2 Gene:
COL11A2SOURCE GeneReport for Unigene cluster for COL11A2 Gene:
Hs.390171Phenotype-based relationships between genes and organs from Gene ORGANizer for COL11A2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- 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
Thorax:
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
- kidney
- large intestine
- liver
- small intestine
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 vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for COL11A2
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for COL11A2 Gene
Orthologs for COL11A2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL11A2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COL11A2 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | COL11A2 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | COL11A2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Col11a2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Col11a2 33 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | COL11A2 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | col11a2 34 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for COL11A2 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)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for COL11A2: view image
Paralogs for COL11A2 Gene
Paralogs for COL11A2 Gene
(15) SIMAP similar genes for COL11A2 Gene using alignment to 11 proteins:
- COBA2_HUMAN
- A2AAS7_HUMAN
- H0Y3B3_HUMAN
- H0Y3B5_HUMAN
- H0Y3M9_HUMAN
- H0YHM5_HUMAN
- H0YHM9_HUMAN
- H0YIS1_HUMAN
- J3JS72_HUMAN
- Q4VXY6_HUMAN
- Q6LCP7_HUMAN
Variants for COL11A2 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1006870472 | uncertain-significance, Stickler Syndrome, Dominant, Nonsyndromic Hearing Loss, Dominant, Weissenbacher-Zweymuller syndrome, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis | 33,163,239(-) | G/A/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1046691722 | uncertain-significance, Weissenbacher-Zweymuller syndrome, Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Nonsyndromic Hearing Loss, Dominant | 33,192,466(-) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant | |
| rs114580597 | conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Nonsyndromic Hearing Loss, Dominant, Otospondylomegaepiphyseal dysplasia, Stickler Syndrome, Dominant, Fibrochondrogenesis, Weissenbacher-Zweymuller syndrome | 33,165,778(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant | |
| rs117237998 | benign, likely-benign, not specified, Fibrochondrogenesis, Weissenbacher-Zweymuller syndrome, Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, Nonsyndromic Hearing Loss, Dominant | 33,174,020(-) | C/A/T | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant | |
| rs117267045 | benign, likely-benign, not specified, Stickler Syndrome, Dominant, Fibrochondrogenesis, Weissenbacher-Zweymuller syndrome, Nonsyndromic Hearing Loss, Dominant, Otospondylomegaepiphyseal dysplasia | 33,166,501(-) | G/A | genic_downstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv10609n54 | CNV | loss | 21841781 |
| nsv1073969 | CNV | deletion | 25765185 |
| nsv1112900 | CNV | deletion | 24896259 |
| nsv1119076 | CNV | deletion | 24896259 |
| nsv348539 | CNV | deletion | 16902084 |
| nsv476496 | CNV | novel sequence insertion | 20440878 |
| nsv528907 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
30.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
13.48;
95.51% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for COL11A2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL11A2 Gene
Disorders for COL11A2 Gene
(27) MalaCards diseases for COL11A2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| otospondylomegaepiphyseal dysplasia, autosomal dominant |
|
|
| otospondylomegaepiphyseal dysplasia, autosomal recessive |
|
|
| deafness, autosomal dominant 13 |
|
|
| deafness, autosomal recessive 53 |
|
|
| fibrochondrogenesis 2 |
|
Search COL11A2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
COBA2_HUMAN- Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA) [MIM:184840]: An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. {ECO:0000269 PubMed:7859284, ECO:0000269 PubMed:9506662, ECO:0000269 PubMed:9805126}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB) [MIM:215150]: An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. {ECO:0000269 PubMed:10677296, ECO:0000269 PubMed:7859284}. 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.
Additional Disease Information for COL11A2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for COL11A2 Gene
Publications for COL11A2 Gene
- Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. (PMID: 7859284) Vikkula M … Ropers HH (Cell 1995) 3 4 22 44 58
- Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. (PMID: 22246659) Tompson SW … Cohn DH (American journal of medical genetics. Part A 2012) 2 3 4 58
- Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. (PMID: 16133074) Solovieva S … Riihimäki H (European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 2006) 3 22 44 58
- The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis. (PMID: 15922184) Jakkula E … Ala-Kokko L (Osteoarthritis and cartilage 2005) 3 22 44 58
- Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. (PMID: 16033917) Chen W … Smith RJ (Journal of medical genetics 2005) 3 4 22 58
Products for COL11A2 Gene
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- Mammalian expression: PiggyBac
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- antibodies-online: Search results for 116 available COL11A2 Antibodies ranked by validation data
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Sources for COL11A2 Gene
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