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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL9A2 Gene

protein-coding GIFtS: 62
GCID: GC01M040766

collagen, type IX, alpha 2

(Previous symbol: EDM2)

Explore 28 diseases affiliated with
COL9A2 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 IX, Alpha 2¹ ²		STL5²
EDM2¹ ² ⁵		Alpha 2 Type IX Collagen²
MED¹ ²		Collagen Alpha-2(IX) Chain²
DJ39G22.4²		Collagen IX, Alpha-2 Polypeptide²

External Ids:	HGNC: 2218¹	Entrez Gene: 1298²	Ensembl: ENSG00000049089⁷	OMIM: 120260⁵	UniProtKB: Q14055³

Export aliases for COL9A2 gene to outside databases

Previous GC identifers: GC01M040801 GC01M039769 GC01M040228 GC01M040179 GC01M040435 GC01M040538 GC01M038884

(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 COL9A2:

This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage.

Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar

collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached

glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CO9A2_HUMAN, Q14055

Function: Structural component of hyaline cartilage and vitreous of the eye

Gene Wiki entry for COL9A2

(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_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL9A2 gene promoter:
Elk-1 Sp1 AML1a Olf-1 LUN-1 GATA-1 AREB6 HEN1 NRF-2 Ik-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL9A2 promoter sequence

Search SABiosciences Chromatin IP Primers for COL9A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL9A2

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

Entrez Gene cytogenetic band: 1p33-p32 Ensembl cytogenetic band: 1p34.2 HGNC cytogenetic band: 1p33-p32

COL9A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL9A2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M040766: view genomic region (about GC identifiers)

Start:	40,766,159 bp from pter	End:	40,783,488 bp from pter
Size:	17,330 bases	Orientation:	minus strand

(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: CO9A2_HUMAN, Q14055 (See protein sequence)

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

Size: 689 amino acids; 65131 Da

Subunit: Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain

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

Secondary accessions: B2RMP9

Explore the universe of human proteins at neXtProt for COL9A2: NX_Q14055

Post-translational modifications:

Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links¹

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14055

COL9A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001843.1

ENSEMBL proteins:

ENSP00000361834 ENSP00000407377 ENSP00000388493 ENSP00000361821

Reactome Protein details: Q14055
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

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:0005594	collagen type IX	IDA	8660302
GO:0005788	endoplasmic reticulum lumen	TAS	--

COL9A2 for ontologies About GeneDecksing

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Assay Products for COL9A2:

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	Browse ELISAs and CLIAs at Uscn

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

COL9A2 for domains About GeneDecksing

1 InterPro domain/family:

IPR008160 Collagen

Graphical View of Domain Structure for InterPro Entry Q14055

ProtoNet protein and cluster: Q14055

2 Blocks protein families:

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO9A2_HUMAN, Q14055

Similarity: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family

(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: CO9A2_HUMAN, Q14055

Function: Structural component of hyaline cartilage and vitreous of the eye

Genatlas biochemistry entry for COL9A2:

collagen,type IX,alpha 2,fibril associated collagen with interrupted triple helices (FACIT),expressed in cartilage

miRNA Products:		OriGene 3'-UTR Clone: COL9A2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL9A2
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate COL9A2:
		hsa-miR-4264 hsa-miR-3679-3p hsa-miR-873 hsa-miR-525-5p hsa-miR-520a-5p
		SwitchGear 3'UTR luciferase reporter plasmid: COL9A2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL9A2 (see all 7) OriGene shRNA RFP: COL9A2 OriGene siRNA: COL9A2
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Gene Editing
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		LifeMap BioReagents: cell lines associated with COL9A2: Chondrogenic Package 4D20.8, Chondrogenic Package 7PEND24, Chondrogenic Package 7SMOO32, Chondrogenic Package E15, Chondrogenic Package MEL2, Chondrogenic Package SK11, Chondrogenic Package SM30, PureStem 7PEND24, NCr-fac & Meso-prx Progenitor, PureStem 7SMOO32, NCr-fac & Meso Progenitor

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL9A2

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030020	extracellular matrix structural constituent conferring tensile strength	IC	8660302

COL9A2 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for COL9A2:

Decreased DCP1a protein expres

Increased gamma-H2AX phosphory

(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 - 5/12 super-pathways (see all 12) 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

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

Collagen formation

	Collagen formation	1.00			Extracellular matrix organization	0.54
	Collagen biosynthesis and modifying enzymes	0.74			Secretion of collagens	0.49

NCAM signaling for neurite out-growth

NCAM signaling for neurite out-growth

1.00

NCAM1 interactions

0.62

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

1 EMD Millipore Pathway for COL9A2

Selected targets of ESR1

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL9A2 (see all 15)

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

5/12 Reactome Pathways for COL9A2 (see all 12)

	Developmental Biology
	Secretion of collagens
	NCAM1 interactions
	NCAM signaling for neurite out-growth
	Collagen formation

1 Kegg Pathway (Kegg details for COL9A2):

Protein digestion and absorption

COL9A2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for COL9A2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/45 Interacting proteins for COL9A2 (Q14055³ ENSP00000361834⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 45)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COL9A1	P20849³, ENSP00000349790⁴	I2D: score=1 STRING: ENSP00000349790
COL2A1	P02458³, ENSP00000369889⁴	I2D: score=2 STRING: ENSP00000369889
NOA1	Q8NC60³, ENSP00000264230⁴	I2D: score=4 STRING: ENSP00000264230
FEZ1	Q99689³	I2D: score=4
HAP1	P54257³	I2D: score=3

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	TAS	10364514
GO:0007411	axon guidance	TAS	--
GO:0030198	extracellular matrix organization	TAS	--

COL9A2 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

COL9A2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL9A2
2 Novoseek chemical compound relationships for COL9A2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
col 3	86.5	1	10090888 (1)
glutamine	7.77	1	11805640 (1)

Search CenterWatch for drugs/clinical trials and news about COL9A2 / CO9A2

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 COL9A2 gene:

NM_001852.3

Unigene Cluster for COL9A2:

Collagen, type IX, alpha 2

Hs.418012 [show with all ESTs]

Unigene Representative Sequence: BC041479

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

ENST00000372748(uc001cfh.1) ENST00000482722(uc001cfi.1) ENST00000466267

ENST00000427563 ENST00000488463 ENST00000417105 ENST00000496215 ENST00000372736

ENST00000461118 ENST00000490132 ENST00000495948

miRNA Products:		OriGene 3'-UTR Clone: COL9A2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL9A2
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate COL9A2:
		hsa-miR-4264 hsa-miR-3679-3p hsa-miR-873 hsa-miR-525-5p hsa-miR-520a-5p
		SwitchGear 3'UTR luciferase reporter plasmid: COL9A2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL9A2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL9A2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL9A2 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: COL9A2 (NM_001852)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL9A2
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL9A2

Additional cDNA sequence:

AK021682.1 BC041479.1 BC065715.1 BC136326.1 BC136327.1 M95610.1

8 DOTS entries:

DT.453284 DT.100781754 DT.91988516 DT.102828128 DT.92423205 DT.100650897 DT.99988192 DT.121348861

24/122 AceView cDNA sequences (see all 122):

AI802108 AW163711 AI292185 CD672813 AI733465 AI003467 NM_001852 BQ181321

BX119530 CD675253 CD672313 BM676391 BM670695 AA605000 AI277434 AI291668

CD722372 CD722241 AI815378 BQ774324 AA488854 BC041479 AW021755 AW292156

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for COL9A2 (see all 10) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5a	·	5b	·	5c	·	5d	^	6	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^
SP1:
SP2:
SP3:							-				-		-		-		-
SP4:							-
SP5:

ExUns:	22	^	23	^	24	^	25	^	26	^	27a	·	27b	^	28	^	29	^	30	^	31
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for COL9A2

(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

COL9A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCACCTCGG

About this image

COL9A2 expression in embryonic tissues and stem cells

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

10/25 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 25)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Autopod Epiphyseal End

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Stylopod Epiphyseal End

Bone, Cartilage

Bone, Cartilage

Bone, Cartilage

Zeugopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Limb

Autopod Synovial Joint

Central Intermediate Lamina Cells

Cartilage

Limb

Stylopod Synovial Joint

Central Intermediate Lamina Cells

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/29 LifeMap Cells (see all 29)

Name

Category

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Endoderm progenitor-like cells (Generation and expan...)

Definitive endoderm-like cells (Generation and expan...)

HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)

Bone, Cartilage

Micromass-induced chondrocytes (Micromass chondrogen...)

Bone, Cartilage

See COL9A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL9A2

SOURCE GeneReport for Unigene cluster: Hs.418012

SABiosciences Custom PCR Arrays for COL9A2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL9A2 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL9A2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL9A2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL9A2

(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 chordates.

Orthologs for COL9A2 gene from 3/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COL9A2¹	collagen, type IX, alpha 2	71.78(n) 78.76(a)		396524 XM_001233986.2 XP_001233987.2
lizard (Anolis carolinensis)	Reptilia	COL9A2⁶	--	79(a)	1 ↔ 1	GL343498.1(319704-330160)
zebrafish (Danio rerio)	Actinopterygii	AY113700.1²	--	72.16(n)		AY113700.1

ENSEMBL Gene Tree for COL9A2 (if available)
TreeFam Gene Tree for COL9A2 (if available)

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

Paralogs for COL9A2 gene

VWA1² MATN4² COL14A1² COL9A1² MATN3² MATN2² COL12A1² VIT²

COL9A3² COCH² COL20A1² VWA2² MATN1² COL21A1²

11 SIMAP similar genes for COL9A2 using alignment to 5 protein entries: CO9A2_HUMAN (see all proteins):

COL9A1 COL9A3 FCN2 C1QTNF9 C1QTNF9B MARCO

COL7A1 COL28A1 COL6A3 COL21A1 COL22A1

COL9A2 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 1 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75254757^1,2	F,	--	38884184(+)	`TCTCCC/TGGACT`	1	--	ds500¹		1	WA	118
rs75291055^1,2	C,F,	--	38884805(+)	`CTGAGC/TTGGGA`	1	--	ut3¹		1	WA	118
rs41480445^1,2	C,F,	--	38885112(-)	`GAAGCG/ACTGAA`	1	--	ut3¹		7	NS EA NA CSA WA	547
rs2229827^1,2	C,F,H,	--	38885226(-)	`GGGACT/CCAGGA`	1	--	ut3¹ ese³		8	MN EA NS WA	1144
rs74541133^1,2		--	38885886(+)	`TGAGCG/ATGAGG`	1	--	int¹		2	CSA WA	121
rs75924208^1,2		--	38885920(+)	`TCCACA/GCGTCA`	1	--	int¹		2	CSA WA	121
rs79593152^1,2	C,	--	38886382(+)	`GTGTCC/TCNNNN`	1	--	int¹		3	WA NA	240
rs11803848^1,2	C,H	--	38887106(+)	`TCCGTG/AGGCTC`	1	--	int¹		1	NA	2
rs77215057^1,2	F,	--	38887221(+)	`GAACAC/TGTGGA`	1	--	int¹		1	WA	118
rs11550895^1,2	C	--	38887714(-)	`CAGCCA/C/TGGGAG`	3	P	syn¹		1	NA	3822

HapMap Linkage Disequilibrium report for COL9A2 (40766159 - 40783488 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for COL9A2: --
Human Gene Mutation Database (HGMD): COL9A2

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(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

COL9A2 for disorders           About GeneDecksing

OMIM gene information: 120260
OMIM disorders: 600204  603932
UniProtKB/Swiss-Prot: CO9A2_HUMAN, Q14055

Defects in COL9A2 are the cause of multiple epiphyseal dysplasia type 2 (EDM2) [MIM:600204]. EDM is a

generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and

short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and

the milder Ribbing types. EDM2 inheritance is autosomal dominant

Defects in COL9A2 may be a cause of susceptibility to intervertebral disc disease (IDD) [MIM:603932]; also

known as lumbar disk herniation (LDH). IDD is one of the most common musculo-skeletal disorders and the predominant

cause of low-back pain and unilateral leg pain

Defects in COL9A2 are the cause of Stickler syndrome type 5 (STL5) [MIM:614284]. An autosomal recessive 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. STL5 is characterized by high myopia, vitreoretinal

degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence

of cleft palate and Pierre Robin sequence

20/28 diseases for COL9A2 (see all 28): About MalaCards

multiple epiphyseal dysplasia epiphyseal dysplasia intervertebral disc disease multiple epiphyseal dysplasia, dominant

pierre robin sequence lumbar disc degeneration osteochondritis dissecans spinal stenosis

lumbar disc disease back pain vitreoretinal degeneration campomelic dysplasia

diastrophic dysplasia stickler syndrome atelosteogenesis short stature

retinal detachment pseudoachondroplasia leiomyomatosis rheumatoid arthritis

6 diseases from the University of Copenhagen DISEASES database for COL9A2:

Multiple epiphyseal dysplasia Pseudoachondroplasia Osteoarthritis Diastrophic dysplasia

Osteochondritis dissecans Campomelic dysplasia

5 Novoseek disease relationships for COL9A2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
multiple epiphyseal dysplasia	97	7	8702162 (1), 16440132 (1), 9605591 (1), 8528240 (1) (see all 6)
intervertebral disc disease	87.9	7	15167667 (3), 10411504 (2), 11118298 (1)
psach	85.9	1	11968079 (1)
lumbar disc disease	81.3	3	16133074 (1), 14644861 (1), 17024315 (1)
rheumatoid arthritis	0	2	16249825 (1)

GeneTests: COL9A2

Multiple Epiphyseal Dysplasia, Dominant

Genetic Association Database (GAD): COL9A2
Human Genome Epidemiology (HuGE) Navigator: COL9A2 (20 documents)

Export disorders for COL9A2 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 COL9A2 gene, integrated from 9 sources (see all 77):
(articles sorted by number of sources associating them with COL9A2)

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

An allele of COL9A2 associated with intervertebral disc disease. (PubMed id 10411504)^{1, 2, 4, 9} Annunen S.... Ala-Kokko L. (1999)
Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1. (PubMed id 8454052)^{1, 2, 3, 9} Peraelae M.... Vuorio E. (1993)
The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population. (PubMed id 16249825)^{1, 4, 9} Takata Y....Yasui N. (2006)
The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients. (PubMed id 15167667)^{1, 4, 9} Kales S.N....Christiani D.C. (2004)
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. (PubMed id 10364514)^{1, 2, 9} Holden P.... Briggs M.D. (1999)
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. (PubMed id 11565064)^{1, 2, 9} Czarny-Ratajczak M.... Ala-Kokko L. (2001)
Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule. (PubMed id 9707347)^{1, 2, 9} Pihlajamaa T....Ala-Kokko L. (1998)
The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration. (PubMed id 16371896)^{1, 4, 9} Jim J.J....Chan D. (2005)
Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciatica. (PubMed id 11805640)^{1, 4, 9} Karppinen J....Vanharanta H. (2002)
Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. (PubMed id 16133074)^{1, 4, 9} Solovieva S....Riihimaki H. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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: 1298	HGNC: 2218	AceView: COL9A2	Ensembl:ENSG00000049089	euGenes: HUgn1298
ECgene: COL9A2	Kegg: 1298	H-InvDB: COL9A2

(According to HUGE)
About This Section

(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 COL9A2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for COL9A2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL9A2

Intellectual Property for COL9A2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for COL9A2 gene:
Search GeneIP for patents involving COL9A2

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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COL9A2 Gene

collagen, type IX, alpha 2

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COL9A2 Gene

collagen, type IX, alpha 2

Aliasesfor COL9A2 gene

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