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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL11A2 Gene

protein-coding GIFtS: 63
GCID: GC06M033130

collagen, type XI, alpha 2

(Previous symbols: DFNA13, DFNB53)

Explore 33 diseases affiliated with
COL11A2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Collagen, Type XI, Alpha 2¹ ²		FBCG2²
DFNA13¹ ² ⁵		PARP²
DFNB53¹ ² ⁵		Collagen Alpha-2(XI) Chain²
HKE5¹ ²		Pro-A2 Chain Of Collagen Type XI²
STL3² ⁵

External Ids:	HGNC: 2187¹	Entrez Gene: 1302²	Ensembl: ENSG00000204248⁷	OMIM: 120290⁵	UniProtKB: P13942³

Export aliases for COL11A2 gene to outside databases

Previous GC identifers: GC06M033133 GC06M033177 GC06M033238 GC06M032872

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COL11A2:

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)

UniProtKB/Swiss-Prot: COBA2_HUMAN, P13942

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

Gene Wiki entry for COL11A2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167245.1 NT_167246.1 NT_167247.1 NT_167248.1

NT_167249.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL11A2 gene promoter:
Sp1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL11A2 promoter sequence

Search SABiosciences Chromatin IP Primers for COL11A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL11A2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.32 HGNC cytogenetic band: 6p21.3

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

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M033130: view genomic region (about GC identifiers)

Start:	33,130,458 bp from pter	End:	33,160,276 bp from pter
Size:	29,819 bases	Orientation:	minus strand

6 alternative locations:

Chr6-,ALT_REF_LOCI_4 33,207,444-33,237,219	Chr6-,ALT_REF_LOCI_5 33,215,658-33,245,432	Chr6-,ALT_REF_LOCI_3 33,108,368-33,149,193
Chr6-,ALT_REF_LOCI_6 33,059,284-33,124,651	Chr6-,ALT_REF_LOCI_2 33,052,091-33,121,065	Chr6-,ALT_REF_LOCI_7 33,200,101-33,226,880

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: COBA2_HUMAN, P13942 (See protein sequence)

Recommended Name: Collagen alpha-2(XI) chain precursor

Size: 1736 amino acids; 171791 Da

Subunit: 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)

Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)

Secondary accessions: A6NLX2 E7ER90 Q07751 Q13271 Q13272 Q13273 Q5JP94 Q5SUI8 Q7Z6C3 Q99866 Q9UIP9

Alternative splicing: 9 isoforms: P13942-1 P13942-2 P13942-3 P13942-4 P13942-5 P13942-6 P13942-7 P13942-8

P13942-9 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL11A2: NX_P13942

Post-translational modifications:

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains¹

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 amounts¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P13942

COL11A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001157243.1 NP_542410.2 NP_542411.2 NP_542412.2

ENSEMBL proteins:

ENSP00000363840 ENSP00000405520 ENSP00000378620 ENSP00000339915 ENSP00000350079

ENSP00000363846 ENSP00000363845 ENSP00000378623 ENSP00000363844 ENSP00000355123

Reactome Protein details: P13942
Human Recombinant Protein Products:

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	Uscn Proteins for COL11A2

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005581	collagen	--	--
GO:0005592	collagen type XI	NAS	8838804
GO:0005788	endoplasmic reticulum lumen	TAS	--

COL11A2 for ontologies About GeneDecksing

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	Uscn Antibodies for COL11A2
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	Uscn ELISAs and CLIAs for COL11A2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

COL11A2 for domains About GeneDecksing

5 InterPro domains/families:

IPR013320 ConA-like_subgrp

IPR001791 Laminin_G

IPR000885 Fib_collagen_C

IPR008160 Collagen

IPR008985 ConA-like_lec_gl_sf

Graphical View of Domain Structure for InterPro Entry P13942

ProtoNet protein and cluster: P13942

5 Blocks protein families:

IPB000885 Fibrillar collagen

IPB001791 Laminin G

IPB003129 Thrombospondin

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: COBA2_HUMAN, P13942

Domain: The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by

controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen

fibrils. It binds a calcium ion which is essential for its function (By similarity)

Similarity: Belongs to the fibrillar collagen family

Similarity: Contains 8 collagen-like domains

Similarity: Contains 1 fibrillar collagen NC1 domain

Similarity: Contains 1 laminin G-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: COBA2_HUMAN, P13942

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

Genatlas biochemistry entry for COL11A2:

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

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		hsa-miR-194* hsa-miR-125a-5p hsa-miR-513a-5p hsa-miR-765 hsa-miR-128 hsa-miR-3150b-3p hsa-miR-125b hsa-miR-654-5p

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL11A2

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	--	--
GO:0030020	extracellular matrix structural constituent conferring tensile strength	NAS	8838804
GO:0030674	protein binding, bridging	NAS	10677296
GO:0046872	metal ion binding	IEA	--

COL11A2 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for COL11A2:

Increased gamma-H2AX phosphory

Wnt reporter downregulated

Animal Models:
Mouse knock-out Col11a2^tm1Mne for COL11A2
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Col11a2):

craniofacial

growth/size

hearing/vestibular/ear

skeleton

COL11A2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Collagen formation

Collagen formation	1.00	Extracellular matrix organization	0.54
Collagen biosynthesis and modifying enzymes	0.74	Secretion of collagens	0.49
Assembly of collagen fibrils and other multimeric structures	0.65

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Formation of collagen fibres

	Formation of collagen fibrils	1.00			Type XII and XIV collagens associate with type I and type II fibrils.	0.45
	Formation of collagen fibres	1.00

Degradation of the extracellular matrix

Degradation of the extracellular matrix

1.00

Degradation of collagen

0.79

Pathway sources
See GeneCards unified pathways
Show all pathways

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL11A2 (see all 15)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	Transendothelial Migration of Leukocytes
	UPA-UPAR Pathway

2 BioSystems Pathways for COL11A2

	Focal Adhesion
	Neural Crest Differentiation

5/12 Reactome Pathways for COL11A2 (see all 12)

	Formation of collagen fibrils
	Secretion of collagens
	Assembly of collagen fibrils and other multimeric structures
	Type XII and XIV collagens associate with type I and type II fibrils.
	Collagen formation

4 Kegg Pathways (Kegg details for COL11A2):

	Focal adhesion
	ECM-receptor interaction
	Protein digestion and absorption
	Amoebiasis

COL11A2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for COL11A2

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

5/6 Interacting proteins for COL11A2 (P13942^{2, 3} ENSP00000363840⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DDR2	Q16832²^,³	MINT-5222456 MINT-6167968 I2D: score=1
ANXA7	P20073²^,³	MINT-8248142 I2D: score=2
PIN1	Q13526²^,³	MINT-8266425 I2D: score=2
TK1	P04183²^,³	MINT-8273136 I2D: score=2
WDR20	Q8TBZ3³, ENSP00000335434⁴	I2D: score=2 STRING: ENSP00000335434

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	NAS	7859284
GO:0001894	tissue homeostasis	--	--
GO:0002062	chondrocyte differentiation	--	--
GO:0007605	sensory perception of sound	IMP	10581026
GO:0030198	extracellular matrix organization	TAS	--

COL11A2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

COL11A2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL11A2
2 Novoseek chemical compound relationships for COL11A2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
proline	22.7	6	8325374 (2), 2243097 (1)
arginine	0	4	2243097 (2), 7859284 (1)

Search CenterWatch for drugs/clinical trials and news about COL11A2 / COBA2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for COL11A2 gene (4 alternative transcripts):

NM_001163771.1 NM_080679.2 NM_080680.2 NM_080681.2

Unigene Cluster for COL11A2:

Collagen, type XI, alpha 2

Hs.390171 [show with all ESTs]

Unigene Representative Sequence: NM_080680

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000374708(uc003ocy.1) ENST00000477772(uc010jul.1) ENST00000457788

ENST00000395194(uc003oda.3) ENST00000341947(uc003ocx.1) ENST00000357486

ENST00000374714 ENST00000374713 ENST00000395197 ENST00000374712 ENST00000361917(uc003ocz.1)

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		hsa-miR-194* hsa-miR-125a-5p hsa-miR-513a-5p hsa-miR-765 hsa-miR-128 hsa-miR-3150b-3p hsa-miR-125b hsa-miR-654-5p

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Additional cDNA sequence:

AK130938.1 BC053886.1 J04974.1 L18987.1

7 DOTS entries:

DT.100744968 DT.92414765 DT.410831 DT.100009850 DT.100661340 DT.91751147 DT.99955119

24/96 AceView cDNA sequences (see all 96):

BC053886 BE672406 AA350491 AI915174 AW243806 BU164080 AI954682 AU118676

AW273324 AI056670 AU118605 CB044233 AL046059 CA415316 BQ181816 CA414689

BQ448223 BQ181070 BQ044924 BQ181700 AI689068 AI741176 CA414513 CA412828

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

COL11A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGACTGATG

About this image

COL11A2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Autopod Epiphyseal End

Chondrocytes

Selective marker (cell-identifying gene)

Bone, Cartilage

Bone

Autopod Epiphyseal End

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Stylopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Bone

Stylopod Epiphyseal End

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Zeugopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)

Bone, Cartilage

TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)

HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+BMP4-induced 4D20.8 cells (Chondrogenic inducti...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced E15 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See COL11A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL11A2

SOURCE GeneReport for Unigene cluster: Hs.390171

SABiosciences Custom PCR Arrays for COL11A2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL11A2 Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL11A2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for COL11A2 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	--	--	33(a)	possible ortholog	Un(29708498-29710167)
lizard (Anolis carolinensis)	Reptilia	COL11A2⁶	--	68(a)	1 ↔ 1	GL343857.1(59173-151064)
zebrafish (Danio rerio)	Actinopterygii	col11a2¹	collagen type XI alpha-2	71.72(n) 80.19(a)		561679 NM_001079992.1 NP_001073461.1
worm (Caenorhabditis elegans)	Secernentea	mec-5⁶	MEChanosensory abnormality family member (mec-5)	30(a)	1 → many	X(15943939-15948881)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for COL11A2 gene

COL4A6² COL19A1² COL4A5² COL24A1² COL4A4² COL5A3² COL1A1² COL16A1²

COL4A2² COL5A2² COL5A1² COL4A3² COL22A1² COL7A1² COL1A2² COL27A1²

COL2A1² COL3A1² COL4A1² COL11A1²

18 SIMAP similar genes for COL11A2 using alignment to 33 protein entries: COBA2_HUMAN (see all proteins):

COL11A1 COL5A1 COL5A3 COL17A1 COL6A2 COL14A1

C1QTNF9 C1QTNF9B SFTPD COL7A1 OTOL1 DKFZp434L081

MARCO COL10A1 COL23A1 COL1A1 COL2A1 COL5A2

COL11A2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121912949^1,2	C	pathogenic	33141825(-)	`CCTGTA/C/TGGGGA`	54	* S L	stg¹ mis¹		1		NA	4544
rs11970403^1,2	H	--	32904542(+)	`CATGAA/GGAAGG`	4	--	us2k¹		0	--	--	--	--
rs61669264^1,2	C,F,	--	32904585(+)	`AAAAAC/GAGATG`	4	--	us2k¹		3		WA NA EU	5983
rs734181^1,2	C,F,A,H,	--	33130208(-)	`CTTCTG/CGGTGT`	12	--	ds500¹		18		NA EA NS WA	1610
rs3130165^1,2	C,F,A,H,	--	33130226(+)	`ACACCC/GGTGTC`	15	--	ds500¹		17		NS EA NA WA CSA	1189
rs2235498^1,2	C,F,H,	--	33130430(-)	`CTCCCC/TCGACA`	12	--	ds500¹		23		EA NS WA NA	4412
rs117470046^1,2		--	33130530(+)	`GGGTCC/TTGGGA`	3	--	ut3¹		1		EA	120
rs180728897^1,2		--	33131071(+)	`TGTTGA/GCGTTT`	3	--	ut3¹		0	--	--	--	--
rs185123433^1,2		--	33131222(+)	`TCTAAC/TGGGTA`	3	--	ut3¹		0	--	--	--	--
rs191001118^1,2		--	33131328(+)	`TGAGGA/GCTCTC`	3	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for COL11A2 (33130458 - 33160276 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for COL11A2
1 CNV: 6487
Human Gene Mutation Database (HGMD): COL11A2

Locus Specific Mutation Databases (LSDB): COL11A2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL11A2

DNA2.0 Custom Variant and Variant Library Synthesis for COL11A2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

COL11A2 for disorders           About GeneDecksing

OMIM gene information: 120290
OMIM disorders: 184840  215150  277610  601868  609706
UniProtKB/Swiss-Prot: COBA2_HUMAN, P13942

Defects in COL11A2 are the cause of Stickler syndrome type 3 (STL3) [MIM:184840]. STL3 is an autosomal

dominant non-ocular form of Stickler syndrome. Classical Stickler syndrome associates ocular signs with more or less

complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular symptoms are absent in

STL3. 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

Defects in COL11A2 are the cause of autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED)

[MIM:215150]. OSMED is a skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of

autosomal dominant skeletal disorders (Stickler and Marshall syndromes) but can be distinguished by disproportionately

short limbs and lack of ocular involvement

Defects in COL11A2 are the cause of Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]. WZS is an autosomal

dominant disorder allelic with STL3 and OSMED. WZS is also referred to as heterozygous OSMED

Defects in COL11A2 are the cause of deafness autosomal dominant type 13 (DFNA13) [MIM:601868]. DFNA13 is a

form of 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

Defects in COL11A2 are the cause of deafness autosomal recessive type 53 (DFNB53) [MIM:609706]

Defects in COL11A2 are the cause of fibrochondrogenesis type 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

20/33 diseases for COL11A2 (see all 33): About MalaCards

weissenbacher-zweymuller syndrome stickler syndrome otospondylomegaepiphyseal dysplasia ossification of posterior longitudinal ligament of spine

deafness, autosomal recessive 53 deafness, autosomal dominant 13 pierre robin sequence spinal stenosis

stickler syndrome, type 3 stickler syndrome, type 2 epiphyseal dysplasia von willebrand's disease

hearing loss multiple epiphyseal dysplasia back pain cleft palate

osteochondrodysplasia wagner syndrome marshall syndrome macroglossia

5 diseases from the University of Copenhagen DISEASES database for COL11A2:

Stickler syndrome Osteochondrodysplasia Sensorineural hearing loss Nonsyndromic deafness

Myopia

10 Novoseek disease relationships for COL11A2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
osmed	96.2	15	10677296 (3), 9805126 (2), 15558753 (2), 9188673 (1) (see all 7)
weissenbacher-zweymuller syndrome	90.4	4	9805126 (3), 15558753 (1)
osteochondrodysplasias	72.3	1	7859284 (1)
collagen fibril	48.2	1	16752401 (1)
osteoarthritis	45.2	2	18381781 (1), 7859284 (1)
hearing loss sensorineural	43	1	7859284 (1)
chondrosarcoma	30.7	1	12024037 (1)
dysplasia	30.1	2	9188673 (1), 16637051 (1)
cleft palate	25.8	2	12673280 (2)
tumors	5.25	2	15986430 (1), 8658251 (1)

GeneTests: COL11A2

Stickler Syndrome

Genetic Association Database (GAD): COL11A2
Human Genome Epidemiology (HuGE) Navigator: COL11A2 (21 documents)

Export disorders for COL11A2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for COL11A2 gene, integrated from 9 sources (see all 110):
(articles sorted by number of sources associating them with COL11A2)

Utopia: connect your pdf to the dynamic
world of online information

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. (PubMed id 7859284)^{1, 2, 4, 9} Vikkula M.... Brunner H.G. (1995)
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). (PubMed id 10581026)^{1, 2, 3} McGuirt W.T.... Smith R.J.H. (1999)
The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens. (PubMed id 7559422)^{1, 2, 3} Vuoristo M.M....Ala-Kokko L. (1995)
The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene. (PubMed id 8838804)^{1, 2, 9} Lui V.C.... Cheah K.S. (1996)
Molecular cloning of PARP (proline/arginine-rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2-terminal domain of the collagen alpha 2(XI) chain. (PubMed id 8325374)^{1, 2, 9} Zhidkova N.I.... Mayne R. (1993)
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. (PubMed id 16033917)^{1, 2, 9} Chen W.... Smith R.J.H. (2005)
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. (PubMed id 10677296)^{1, 2, 9} Melkoniemi M.... Ala-Kokko L. (2000)
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen. (PubMed id 9506662)^{1, 2, 9} Sirko-Osadsa D.A....Robin N.H. (1998)
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymueller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). (PubMed id 9805126)^{1, 2, 9} Pihlajamaa T.... Ala-Kokko L. (1998)
Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. (PubMed id 11289713)^{1, 4, 9} Maeda S....Inoue I. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1302	HGNC: 2187	AceView: COL11A2	Ensembl:ENSG00000204248	euGenes: HUgn1302
ECgene: COL11A2	Kegg: 1302	H-InvDB: COL11A2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for COL11A2	Pharmacogenomics, SNPs, Pathways
Hereditary hearing loss homepage	http://webhost.ua.ac.be/hhh/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL11A2

Intellectual Property for COL11A2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for COL11A2 gene:
Search GeneIP for patents involving COL11A2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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COL11A2 Gene

collagen, type XI, alpha 2

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COL11A2 Gene

collagen, type XI, alpha 2

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