This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with... See more...

Aliases for COL11A1 Gene

Aliases for COL11A1 Gene

  • Collagen Type XI Alpha 1 Chain 2 3 5
  • Collagen XI, Alpha-1 Polypeptide 2 3
  • Deafness, Autosomal Dominant 37 2 3
  • Collagen Alpha-1(XI) Chain 3 4
  • Collagen, Type XI, Alpha 1 2 3
  • COLL6 3 4
  • CO11A1 3
  • DFNA37 3
  • STL2 3

External Ids for COL11A1 Gene

Previous HGNC Symbols for COL11A1 Gene

  • COLL6
  • DFNA37

Previous GeneCards Identifiers for COL11A1 Gene

  • GC01M104172
  • GC01M102524
  • GC01M102633
  • GC01M102805
  • GC01M103055
  • GC01M103342
  • GC01M101474

Summaries for COL11A1 Gene

Entrez Gene Summary for COL11A1 Gene

  • This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

GeneCards Summary for COL11A1 Gene

COL11A1 (Collagen Type XI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL11A1 include Stickler Syndrome, Type Ii and Marshall Syndrome. 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 binding. An important paralog of this gene is COL5A1.

UniProtKB/Swiss-Prot Summary for COL11A1 Gene

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

Gene Wiki entry for COL11A1 Gene

Additional gene information for COL11A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL11A1 Gene

Genomics for COL11A1 Gene

GeneHancer (GH) Regulatory Elements for COL11A1 Gene

Promoters and enhancers for COL11A1 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
GH01J103106 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 510.3 +0.4 385 5.4 CTCF REST SAP30 RAD21 POLR2A SMC3 ZBTB17 ZNF654 SIN3A TAF1 COL11A1 SOD2P1
GH01J103515 Enhancer 0.7 Ensembl ENCODE 10.7 -408.0 -408017 2.2 NFYB MEF2B BATF FOS JUND ATF2 JUNB ATF7 PKNOX1 AMY2B COL11A1 RF00100-006 LOC101928436 RN7SKP285 lnc-RNPC3-4 piR-50444-027
GH01J103514 Enhancer 0.5 Ensembl 10.7 -406.3 -406273 0.5 CTCF REST RAD21 TRIM22 SMC3 ZNF654 ZNF143 COL11A1 AMY2B RF00100-006 RN7SKP285 lnc-RNPC3-4 LOC101928436 piR-50444-027
GH01J103180 Enhancer 0.7 Ensembl ENCODE 7.7 -71.9 -71931 0.8 TCF12 FOSL2 MAFK TCF7L2 FOXA1 USF2 SP1 COL11A1 HSALNG0005617 piR-32539-002
GH01J103508 Enhancer 0.4 Ensembl 10.7 -400.5 -400529 1.2 ATF2 SPI1 FOS ATF7 COL11A1 AMY2B RF00100-006 lnc-RNPC3-4 RN7SKP285 piR-50444-027 LOC101928436
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL11A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL11A1

Top Transcription factor binding sites by QIAGEN in the COL11A1 gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • HSF2
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • Spz1

Genomic Locations for COL11A1 Gene

Genomic Locations for COL11A1 Gene
chr1:102,876,467-103,108,872
(GRCh38/hg38)
Size:
232,406 bases
Orientation:
Minus strand
chr1:103,342,023-103,574,052
(GRCh37/hg19)
Size:
232,030 bases
Orientation:
Minus strand

Genomic View for COL11A1 Gene

Genes around COL11A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL11A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL11A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL11A1 Gene

Proteins for COL11A1 Gene

  • Protein details for COL11A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12107-COBA1_HUMAN
    Recommended name:
    Collagen alpha-1(XI) chain
    Protein Accession:
    P12107
    Secondary Accessions:
    • B1ASK7
    • D3DT73
    • E9PCU0
    • Q14034
    • Q149N0
    • Q9UIT4
    • Q9UIT5
    • Q9UIT6

    Protein attributes for COL11A1 Gene

    Size:
    1806 amino acids
    Molecular mass:
    181065 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 COL11A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL11A1 Gene

Post-translational modifications for COL11A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • N-glycosylated.
  • Glycosylation at Asn1640
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • COBA1_HUMAN (1130)

No data available for DME Specific Peptides for COL11A1 Gene

Domains & Families for COL11A1 Gene

Gene Families for COL11A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COL11A1 Gene

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

Suggested Antigen Peptide Sequences for COL11A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen alpha-1(XI) chain (COBA1_HUMAN)
  • Collagen, type XI, alpha 1, isoform CRA_b (D3DT71_HUMAN)
  • Collagen, type XI, alpha 1, isoform CRA_c (D3DT72_HUMAN)
  • COL11A1 protein (Q149N0_HUMAN)
  • Collagen XI alpha 1 (Q4FAC4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12107

UniProtKB/Swiss-Prot:

COBA1_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 COL11A1: view

Function for COL11A1 Gene

Molecular function for COL11A1 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 1,fibril forming,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 skeletal morphogenesis and in maitaining the interfibrillar spacing and fibril diameter of type II collagen

Phenotypes From GWAS Catalog for COL11A1 Gene

Gene Ontology (GO) - Molecular Function for COL11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent NAS 10486316
GO:0008201 heparin binding IEA --
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 28327460
GO:0030674 protein binding, bridging NAS 10486316
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL11A1: view
genes like me logo Genes that share phenotypes with COL11A1: view

Human Phenotype Ontology for COL11A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for COL11A1 Gene

miRTarBase miRNAs that target COL11A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COL11A1 Gene

Localization for COL11A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL11A1 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 COL11A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
cytoskeleton 3
plasma membrane 2
mitochondrion 2
nucleus 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL11A1 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,IBA 10486316
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL11A1: view

Pathways & Interactions for COL11A1 Gene

PathCards logo

SuperPathways for COL11A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Integrin Pathway
.67
.67
.56
.56
.50
.38
3 ERK Signaling
.61
.61
.58
.51
.49
4 Phospholipase-C Pathway
.56
.56
5 Degradation of the extracellular matrix
genes like me logo Genes that share pathways with COL11A1: view

Pathways by source for COL11A1 Gene

1 KEGG pathway for COL11A1 Gene
15 Qiagen pathways for COL11A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

SIGNOR curated interactions for COL11A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for COL11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001502 cartilage condensation IEA --
GO:0001503 ossification IEA --
GO:0002063 chondrocyte development IEA --
GO:0003007 heart morphogenesis IEA --
GO:0006029 proteoglycan metabolic process IEA --
genes like me logo Genes that share ontologies with COL11A1: view

Drugs & Compounds for COL11A1 Gene

(1) Additional Compounds for COL11A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL11A1: view

Transcripts for COL11A1 Gene

mRNA/cDNA for COL11A1 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL11A1 Gene

No ASD Table

Relevant External Links for COL11A1 Gene

GeneLoc Exon Structure for
COL11A1

Expression for COL11A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL11A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL11A1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (37.9) and Bone marrow stromal cell (20.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL11A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL11A1

SOURCE GeneReport for Unigene cluster for COL11A1 Gene:

Hs.523446

mRNA Expression by UniProt/SwissProt for COL11A1 Gene:

P12107-COBA1_HUMAN
Tissue specificity: Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon.

Evidence on tissue expression from TISSUES for COL11A1 Gene

  • Blood(4.1)
  • Bone(3.4)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL11A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • sinus
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • 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
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with COL11A1: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for COL11A1 Gene

Orthologs for COL11A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL11A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL11A1 31 30
  • 99.39 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL11A1 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL11A1 31 30
  • 92.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COL11A1 31 30
  • 92.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Col11a1 17 31 30
  • 87.29 (n)
rat
(Rattus norvegicus)
Mammalia Col11a1 30
  • 86.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COL11A1 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL11A1 31 30
  • 81.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL11A1 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col5a3 30
  • 74.97 (n)
Str.13851 30
zebrafish
(Danio rerio)
Actinopterygii col11a1b 31
  • 75 (a)
OneToMany
col11a1a 31 30
  • 72.43 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 63 (a)
OneToMany
Species where no ortholog for COL11A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL11A1 Gene

ENSEMBL:
Gene Tree for COL11A1 (if available)
TreeFam:
Gene Tree for COL11A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL11A1: view image

Paralogs for COL11A1 Gene

(13) SIMAP similar genes for COL11A1 Gene using alignment to 10 proteins:

  • COBA1_HUMAN
  • C9JMN2_HUMAN
  • D3DT71_HUMAN
  • D3DT72_HUMAN
  • H7C381_HUMAN
  • Q4FAC4_HUMAN
  • Q5IKE6_HUMAN
  • Q5IKE9_HUMAN
  • Q5IKF0_HUMAN
  • Q5XNW2_HUMAN
genes like me logo Genes that share paralogs with COL11A1: view

Variants for COL11A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL11A1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
636548 Uncertain Significance: not provided 102,888,634(-) T/A INTRON_VARIANT
636583 Likely Pathogenic: not provided 103,026,245(-) CA/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
636598 Likely Pathogenic: not provided 102,923,343(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
637032 Uncertain Significance: Stickler syndrome, type 2 102,939,046(-) T/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
666252 Pathogenic: DEAFNESS, AUTOSOMAL DOMINANT 37 103,031,246(-) T/G SPLICE_ACCEPTOR_VARIANT

Additional dbSNP identifiers (rs#s) for COL11A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for COL11A1 Gene

Variant ID Type Subtype PubMed ID
dgv25n27 CNV loss 19166990
dgv386n54 CNV loss 21841781
dgv387n54 CNV loss 21841781
dgv388n54 CNV loss 21841781
dgv389n54 CNV loss 21841781
dgv66e212 CNV loss 25503493
esv2323749 CNV deletion 18987734
esv24564 CNV gain 19812545
esv2670279 CNV deletion 23128226
esv3336359 CNV duplication 20981092
esv3578030 CNV loss 25503493
esv3578031 CNV loss 25503493
esv3578032 CNV loss 25503493
esv3578033 CNV loss 25503493
esv3578034 CNV loss 25503493
esv3578037 CNV loss 25503493
esv3587002 CNV loss 21293372
nsv462739 CNV loss 19166990
nsv462750 CNV loss 19166990
nsv462772 CNV loss 19166990
nsv476094 CNV novel sequence insertion 20440878
nsv506951 OTHER sequence alteration 20534489
nsv522922 CNV loss 19592680
nsv546931 CNV loss 21841781
nsv546932 CNV loss 21841781
nsv546934 CNV loss 21841781
nsv830882 CNV loss 17160897
nsv830893 CNV loss 17160897

Variation tolerance for COL11A1 Gene

Residual Variation Intolerance Score: 5.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.07; 98.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL11A1 Gene

Human Gene Mutation Database (HGMD)
COL11A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL11A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL11A1 Gene

Disorders for COL11A1 Gene

MalaCards: The human disease database

(46) MalaCards diseases for COL11A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COBA1_HUMAN
  • Stickler syndrome 2 (STL2) [MIM:604841]: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. {ECO:0000269 PubMed:10486316, ECO:0000269 PubMed:20513134, ECO:0000269 PubMed:8872475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Marshall syndrome (MRSHS) [MIM:154780]: An autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures. {ECO:0000269 PubMed:10486316}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Fibrochondrogenesis 1 (FBCG1) [MIM:228520]: A severe short-limbed skeletal dysplasia characterized by broad long-bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. {ECO:0000269 PubMed:21035103}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COL11A1

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 COL11A1: view

No data available for Genatlas for COL11A1 Gene

Publications for COL11A1 Gene

  1. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. (PMID: 20513134) Richards AJ … Snead MP (Human mutation 2010) 3 4 23 54
  2. Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing. (PMID: 19180518) Videman T … Battié MC (Arthritis and rheumatism 2009) 3 23 41 54
  3. Introduction of cytogenetic tests in colorectal cancer screening. (PMID: 19337631) Suceveanu AI … Adam T (Journal of gastrointestinal and liver diseases : JGLD 2009) 3 23 41 54
  4. A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. (PMID: 17999364) Mio F … Ikegawa S (American journal of human genetics 2007) 3 23 41 54
  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 23 41 54

Products for COL11A1 Gene

  • Boster Bio Antibodies for COL11A1
  • Boster Bio ELISA Kits for COL11A1

Sources for COL11A1 Gene