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Aliases for COL11A2 Gene

Aliases for COL11A2 Gene

  • Collagen Type XI Alpha 2 Chain 2 3 5
  • Collagen, Type XI, Alpha 2 2 3
  • Pro-A2 Chain Of Collagen Type XI 3
  • Collagen Alpha-2(XI) Chain 3
  • OSMEDA 3
  • OSMEDB 3
  • DFNA13 3
  • DFNB53 3
  • FBCG2 3
  • HKE5 3
  • PARP 3
  • STL3 3

External Ids for COL11A2 Gene

Previous HGNC Symbols for COL11A2 Gene

  • DFNA13
  • DFNB53

Previous GeneCards Identifiers for COL11A2 Gene

  • GC06M033133
  • GC06M033177
  • GC06M033238
  • GC06M033130
  • 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 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.

Gene Wiki entry for COL11A2 Gene

Additional gene information for COL11A2 Gene

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J033191 Promoter/Enhancer 1 EPDnew Ensembl 650.7 +0.2 169 2.1 PCBP2 KLF1 POLR2A SUZ12 ZNF341 SIN3A EZH2 COL11A2 HLA-DPB1 HSD17B8 BRD2 DAXX WDR46 LEMD2 RGL2 HLA-DPB2 RPS18
GH06J032965 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 12 +222.5 222483 10.4 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ZNF263 BRD2 HLA-DMA ENSG00000223837 LEMD2 ATF6B VPS52 RXRB DAXX WDR46 HCG25
GH06J033016 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +174.3 174285 5 MAX EBF1 CEBPG RAD21 RFX5 RELA YY1 EGR1 POLR2A EED HLA-DQA2 HLA-DPB1 HLA-DPA1 HLA-DQB2 HLA-DMA HLA-DMB HLA-DQB1 HLA-DOA HSD17B8 RPL32P1
GH06J033061 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 10.9 +131.0 130977 0.7 ATF1 FOXA2 CEBPG BATF KLF5 E4F1 IRF4 ZNF316 ELK1 ZNF143 HLA-DPA1 HLA-DQB1 TAP1 PSMB9 RNY4P10 SLC39A7 RXRB MIR219A1 HSD17B8 HLA-DPB1
GH06J033116 Enhancer 1 Ensembl ENCODE 11.6 +75.6 75592 2.5 HDGF ELF3 PKNOX1 RB1 SIN3A ZNF2 RAD21 RFX5 SCRT2 ZNF143 PIR46525 HLA-DPB1 HLA-DPA1 HLA-DPB2 HCG24 RPL32P1 COL11A2 HSD17B8 PIR47274 GC06M032900
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL11A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL11A2 gene promoter:
  • Sp1

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)
Size:
29,819 bases
Orientation:
Minus strand

Genomic View for COL11A2 Gene

Genes around COL11A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL11A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

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

Graphical View of Domain Structure for InterPro Entry

P13942

UniProtKB/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.
genes like me logo Genes that share domains with COL11A2: view

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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with COL11A2: view
genes like me logo Genes that share phenotypes with COL11A2: view

Human Phenotype Ontology for COL11A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL11A2 Gene

MGI Knock Outs for COL11A2:

Animal Model Products

Clone Products

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.

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 COL11A2 gene
Compartment Confidence
extracellular 3
plasma membrane 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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 IEA --
GO:0005592 collagen type XI trimer NAS 7859284
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with COL11A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL11A2 Gene

Pathways & Interactions 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:0001649 osteoblast differentiation IEA --
GO:0001894 tissue homeostasis IEA --
GO:0002062 chondrocyte differentiation IEA --
GO:0007605 sensory perception of sound IMP 9188673
genes like me logo Genes that share ontologies with COL11A2: view

No data available for SIGNOR curated interactions for COL11A2 Gene

Drugs & Compounds for COL11A2 Gene

(2) Drugs for COL11A2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with COL11A2: view

Transcripts for COL11A2 Gene

mRNA/cDNA for COL11A2 Gene

Unigene Clusters for COL11A2 Gene

Collagen, type XI, alpha 2:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x10.3), Brain - Cerebellum (x4.8), and Brain - Cerebellar Hemisphere (x4.6).

Protein differential expression in normal tissues from HIPED for COL11A2 Gene

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



Protein tissue co-expression partners for COL11A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL11A2 Gene:

COL11A2

SOURCE GeneReport for Unigene cluster for COL11A2 Gene:

Hs.390171

Phenotype-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
genes like me logo Genes that share expression patterns with COL11A2: view

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.

Orthologs for COL11A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL11A2 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL11A2 34 33
  • 91.65 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL11A2 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL11A2 34 33
  • 89.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Col11a2 16 34 33
  • 85.51 (n)
rat
(Rattus norvegicus)
Mammalia Col11a2 33
  • 85.46 (n)
lizard
(Anolis carolinensis)
Reptilia COL11A2 34
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii col11a2 34 33
  • 71.72 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
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

(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
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 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

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

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

Variation tolerance for COL11A2 Gene

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

Human Gene Mutation Database (HGMD)
COL11A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL11A2

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

Disorders for COL11A2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for COL11A2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

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

No data available for Genatlas for COL11A2 Gene

Publications for COL11A2 Gene

  1. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. (PMID: 7859284) Vikkula M … Ropers HH (Cell 1995) 3 4 22 44 58
  2. 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
  3. 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
  4. 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
  5. 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

Products for COL11A2 Gene

Sources for COL11A2 Gene

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