COL11A2 Gene (Protein Coding)

Collagen Type XI Alpha 2 Chain

GC06M033162
GIFtS:
45
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 pro... See more...

Aliases for COL11A2 Gene

Aliases for COL11A2 Gene

  • Collagen Type XI Alpha 2 Chain 2 3 5
  • Collagen, Type XI, Alpha 2 2 3
  • Collagen Alpha-2(XI) Chain 3 4
  • HKE5 2 3
  • Pro-A2 Chain Of Collagen Type XI 3
  • COL11A2 5
  • DFNA13 3
  • DFNB53 3
  • OSMEDA 3
  • OSMEDB 3
  • FBCG2 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 Collagen chain trimerization and Integrin Pathway. 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 Summary 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 , Rfam classification and piRNA Summary for COL11A2 Gene

Genomics for COL11A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for COL11A2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL11A2

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

Genomic Locations for COL11A2 Gene

Latest Assembly
chr6:33,162,681-33,193,009
(GRCh38/hg38)
Size:
30,329 bases
Orientation:
Minus strand

Previous Assembly
chr6:33,130,471-33,160,244
(GRCh37/hg19 by Entrez Gene)
Size:
29,774 bases
Orientation:
Minus strand

chr6:33,130,458-33,160,276
(GRCh37/hg19 by Ensembl)
Size:
29,819 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_2):4,574,202-4,603,974 (-)
  • chr6(ALT_REF_LOCI_3):4,406,193-4,435,966 (-)
  • chr6(ALT_REF_LOCI_4):4,582,167-4,611,939 (-)
  • chr6(ALT_REF_LOCI_5):4,598,652-4,628,423 (-)
  • chr6(ALT_REF_LOCI_6):4,357,098-4,386,870 (-)
  • chr6(ALT_REF_LOCI_7):4,611,340-4,638,116 (-)

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 Structure • Gene Density

Proteins for COL11A2 Gene

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  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for COL11A2 Gene

Protein Expression for COL11A2 Gene

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

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 Asn1604
  • Modification sites at PhosphoSitePlus

Other Protein References for COL11A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Thrombospondin, N-terminal
  • Laminin G
  • Fibrillar collagen, C-terminal

Suggested Antigen Peptide Sequences for COL11A2 Gene

GenScript: Design optimal peptide antigens:
  • Collagen, type XI, alpha 2 (A2ABA7_HUMAN)
  • Collagen, type XI, alpha 2 (A2BF21_HUMAN)
  • Collagen, type XI, alpha 2 (A2BF22_HUMAN)
  • Collagen, type XI, alpha 2 (A2BF23_HUMAN)
  • Collagen alpha-2(XI) chain (COBA2_HUMAN)

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

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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,IBA 21873635
GO:0005515 protein binding IPI 17703188
GO:0030020 extracellular matrix structural constituent conferring tensile strength NAS,RCA 28675934
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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 5
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1
lysosome 0

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,IBA 21873635
GO:0005592 collagen type XI trimer NAS 7859284
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
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

PathCards logo

SuperPathways for COL11A2 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
Collagen biosynthesis and modifying enzymes
.75
Collagen formation
.75
Collagen chain trimerization
.67
Assembly of collagen fibrils and other multimeric structures
.65
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
Protein digestion and absorption
.42
2 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
3 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
4 Phospholipase-C Pathway
Phospholipase-C Pathway
.56
PTEN Pathway
.56
5 Degradation of the extracellular matrix
Extracellular matrix organization
.38
genes like me logo Genes that share pathways with COL11A2: view

Pathways by source for COL11A2 Gene

2 BioSystems pathways for COL11A2 Gene
1 KEGG pathway for COL11A2 Gene
15 Qiagen pathways for COL11A2 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

SIGNOR curated interactions for COL11A2 Gene

Is activated by:

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 IBA,IMP 9188673
genes like me logo Genes that share ontologies with COL11A2: view

Drugs & Compounds for COL11A2 Gene

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(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

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mRNA/cDNA for COL11A2 Gene

4 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL11A2

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

No ASD Table

Relevant External Links for COL11A2 Gene

GeneLoc Exon Structure for
COL11A2

Expression for COL11A2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL11A2 Gene

mRNA expression in normal human tissues for COL11A2 Gene
mRNA expression by BioGPS for COL11A2 GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL11A2

SOURCE GeneReport for Unigene cluster for COL11A2 Gene:

Hs.390171

Evidence on tissue expression from TISSUES for COL11A2 Gene

  • Skin(4.3)

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

Primer products for research

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 30
  • 94 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia COL11A2 29 30
  • 91.65 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia COL11A2 30
  • 91 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia COL11A2 29 30
  • 89.06 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Col11a2 29 16 30
  • 85.51 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Col11a2 29
  • 85.46 (n)
Lizard
(Anolis carolinensis)
 Reptilia COL11A2 30
  • 68 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii col11a2 29 30
  • 71.72 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 61 (a)
 OneToMany
Species where no ortholog for COL11A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for COL11A2

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

Variants for COL11A2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL11A2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1004012 Uncertain Significance: not provided 33,171,753(-) G/A
NM_080680.3(COL11A2):c.3110C>T (p.Pro1037Leu) 		MISSENSE
1005250 Uncertain Significance: not provided 33,165,741(-) G/A
NM_080680.3(COL11A2):c.4558C>T (p.Arg1520Cys) 		MISSENSE
1010356 Uncertain Significance: not provided 33,164,310(-) G/A
NM_080680.3(COL11A2):c.5027C>T (p.Pro1676Leu) 		MISSENSE
1012047 Uncertain Significance: not provided 33,172,611(-) C/G
NM_080680.3(COL11A2):c.2817G>C (p.Met939Ile) 		MISSENSE
1014342 Uncertain Significance: not provided 33,166,766(-) C/T
NM_080680.3(COL11A2):c.4292G>A (p.Arg1431Gln) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COL11A2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
COL11A2

SNP Genotyping and Copy Number Assays for research

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

Disorders for COL11A2 Gene

MalaCards: The human disease database

(64) MalaCards diseases for COL11A2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

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 variants 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 variants 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 variants 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for COL11A2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with COL11A2: view

No data available for Genatlas for COL11A2 Gene

Publications for COL11A2 Gene

  1. 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 72
  2. 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 72
  3. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. (PMID: 10677296) Melkoniemi M … Ala-Kokko L (American journal of human genetics 2000) 3 4 22 72
  4. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). (PMID: 10581026) McGuirt WT … Smith RJ (Nature genetics 1999) 2 3 4 72
  5. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. (PMID: 7859284) Vikkula M … Ropers HH (Cell 1995) 3 4 22 40

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