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COL2A1 Gene

protein-coding GIFtS: 66

GC12M046653

collagen, type II, alpha 1
(Previous names: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SEDC)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
ANFH ^²
AOM ^²
COL11A3 ^²
MGC131516 ^²
OTTHUMP00000195063 ^²
SEDC ^²
chondrocalcin ^²

Descriptions
Alpha-1 type II collagen ^³
cartilage collagen ^²
collagen II, alpha-1 polypeptide ^²
collagen, type II, alpha 1 ^²
collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ^¹

External Ids
HGNC: 2200¹
Entrez Gene: 1280²
UniProtKB: P02458³
Ensembl: ENSG00000139219⁷

Search outside databases for aliases for COL2A1 gene

Previous GC identifers: GC12M048379 GC12M048266 GC12M048083

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for COL2A1:

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage

and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis,

chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino

achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia

Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that

is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There

are two transcripts identified for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: CO2A1_HUMAN, P02458

Function: Type II collagen is specific for cartilaginous tissues. It is essential for the normal

embryonic development of the skeleton, for linear growth and for the ability of cartilage to

resist compressive forces

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the COL2A1 gene

Entrez Gene cytogenetic band: 12q13.11 Ensembl cytogenetic band: 12q13.11 HGNC cytogenetic band: 12q12-q13.2

COL2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M046653: (about GC identifiers)

Start:	46,653,015 bp from pter
End:	46,684,552 bp from pter
Size:	31,538 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000012.10 NT_029419.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: CO2A1_HUMAN, P02458 (See protein sequence)

Recommended Name: Collagen alpha-1(II) chain precursor

Size: 1487 amino acids; 141785 Da

Subunit: Homotrimers of alpha 1(II) chains

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

Sequence caution: Sequence=AAH07252.1; Type=Frameshift; Positions=1198;

PDB structures from and Proteopedia :

1U5M (3D)

2FSE (3D)

2SEB (3D)

Secondary accessions: A6NGA0 Q12985 Q14009 Q14044 Q14045 Q14046 Q14047 Q14056 Q14058 Q16672 Q1JQ82

Q2V4X7 Q6LBY1 Q6LBY2 Q6LBY3 Q96IT5 Q99227 Q9UE38 Q9UE39 Q9UE40 Q9UE41 Q9UE42 Q9UE43

Alternative splicing: 3 isoforms: P02458-2 P02458-1 P02458-3

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

The N-telopeptide is covalently linked to the helical COL2 region of alpha 1(IX), alpha 2(IX) and

alpha 3(IX) chain. The C-telopeptide is covalently linked to an another site in the helical region

of alpha 3(IX) COL2¹

REFSEQ proteins (2 alternative transcripts):

NP_001835.3 NP_149162.2

ENSEMBL proteins:

ENSP00000369889 ENSP00000378696 ENSP00000346511 ENSP00000353204 ENSP00000338213

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant COL2A1 Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (procollagen type IIA, Collagen I + II + III, Collagen II, Collagen I + II + III + IV + V)
	Human Recombinant Proteins from Abnova (COL2A1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005581	collagen	IEA	--
GO:0005585	collagen type II	IDA	8660302

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Antibodies for COL2A1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of COL2A1
	Sigma-Aldrich Antibodies for COL2A1
	R&D Systems Antibodies for COL2A1 (Collagen II)
	Antibodies from Abcam (procollagen type IIA, Collagen I + II + III, Collagen II, Collagen I + II + III + IV + V), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (COL2A1)
	Novus Biologicals Antibodies for COL2A1

Assays for COL2A1:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of COL2A1
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P02458

ProtoNet protein and cluster: P02458

3 Blocks protein families:

IPB000885 Fibrillar collagen

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO2A1_HUMAN, P02458

Similarity: Belongs to the fibrillar collagen family

Similarity: Contains 1 VWFC domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (COL2A1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (COL2A1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001844

Applied Biosystems Silencer® siRNAs for COL2A1

Sigma-Aldrich siRNA for COL2A1

Sigma-Aldrich shRNA Panels and shRNA for COL2A1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for COL2A1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001844
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001844
untagged cDNA clones in CMV expression vector (see all 3): BC007252

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001844

UniProtKB/Swiss-Prot: CO2A1_HUMAN, P02458

Function: Type II collagen is specific for cartilaginous tissues. It is essential for the normal

embryonic development of the skeleton, for linear growth and for the ability of cartilage to

resist compressive forces

Genatlas biochemistry entry for COL2A1:

collagen type II,alpha 1,fibril forming,chondrocalcin included,expressed in hyaline cartilage,in

the ocular vitreous, in the nucleus pulposus of the intervertebral disc and in the inner ear

15/17 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Col2a1) (see all 17 ):

	behavior/neurological	craniofacial	digestive/alimentary	embryogenesis
growth/size	hearing/vestibular/ear	immune system	lethality-postnatal	lethality-prenatal/perinatal
limbs/digits/tail	liver/biliary system	nervous system	renal/urinary system	respiratory system

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030020	extracellular matrix structural constituent conferring tensile strength	IC	8660302
GO:0042802	identical protein binding	NAS	2587267

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for COL2A1 (Your Favorite Gene powered by Ingenuity)

Dendritic Cell Maturation

GeneDecks COL2A1 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for COL2A1

5/142 Interacting proteins for COL2A1 (ENSP00000346511³ P02458²) via UniProtKB, MINT, and/or STRING (see all 142 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COCH	O43405²	STRING (score=.897) MINT-6796062
COMP	ENSP00000222271³	STRING (score=.991)
FN1	ENSP00000323534³	STRING (score=.987)
BMP2	ENSP00000368104³	STRING (score=.986)
TGFB1	ENSP00000221930³	STRING (score=.986)

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5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007601	visual perception	IMP	10486316
GO:0007605	sensory perception of sound	IEA	--
GO:0030199	collagen fibril organization	IMP	1429602
GO:0051216	cartilage development	TAS	7550321
GO:0060272	embryonic skeletal joint morphogenesis	IMP	16752401

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for COL2A1
10/20 Novoseek chemical compound relationships for COL2A1 gene (see all 20 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
procollagen	71.57	7	15593085 (2), 1637314 (2), 1860834 (1), 8244341 (1) (see all 5)
calcium pyrophosphate	57.74	1	11333354 (1)
hydroxylysine	51.43	1	10947951 (1)
pentosidine	48.56	3	10947951 (2), 11691581 (1)
n(epsilon)-(carboxymethyl)lysine	47.62	1	10947951 (1)
pyridinoline	42.49	5	7633791 (1), 1887826 (1), 18369645 (1), 7951150 (1)
glycosaminoglycan	39.68	5	17318897 (1), 15639641 (1), 18985688 (1), 16457813 (1)
hydroxyproline	32.68	1	1887826 (1)
hind iii	22.20	3	1675622 (1), 8019561 (1), 10735581 (1)
agarose	18.88	1	11465712 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (COL2A1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (COL2A1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001844

Sigma-Aldrich siRNA for COL2A1

Sigma-Aldrich shRNA Panels and shRNA for COL2A1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001844 NM_033150

REFSEQ mRNAs for COL2A1 gene (2 alternative transcripts):

NM_001844.4 NM_033150.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001844 NM_033150

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001844
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001844
                                 untagged cDNA clones in CMV expression vector (see all 3): BC007252

Additional cDNA sequence:

BC007252.1 BC116449.1 BT007205.1 CR603203.1 X06268.1 X13783.1 X16468.1 X16711.1

18 DOTS entries:

DT.95179525 DT.100782871 DT.95263999 DT.100038174 DT.100038169 DT.40132444 DT.102833021 DT.102833022

DT.102833024 DT.91785734 DT.92423549 DT.100038168 DT.100038175 DT.102833019 DT.121158231 DT.95263995

DT.95263998 DT.121630198

24/326 AceView cDNA sequences (see all 326 ):

BQ181037 CA447475 CA414770 BU626288 BQ004675 CA448359 AA332273 CA428335

BE672454 BQ044938 BQ182581 BQ181996 BQ181566 CN479811 BX095530 CA446123

BQ007886 BQ183800 BQ182279 CA448680 BQ182175 BQ183023 BQ182793 CA411736

highest scoring ESTs for COL2A1:

AA102672 AA327682 AA332092 AA332273 AA332322 AA332398 AA332659 AA333341 AA334901 AA587678

Unigene Cluster for COL2A1:

Collagen, type II, alpha 1

Hs.408182 [show with all ESTs]

Unigene Representative Sequence: NM_001844

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for COL2A1

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23a	·	23b	^	24	^
SP1:
SP2:																																																	-
SP3:
SP4:
SP5:					-

ExUns:	25	^	26	^	27a	·	27b	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40	^	41	^	42	^	43	^	44	^	45	^	46	^	47	^	48	^	49	^
SP1:					-
SP2:
SP3:
SP4:
SP5:

ExUns:	50	^	51
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for COL2A1

5 Ensembl transcripts including schematic representations:

ENST00000380518 ENST00000395281 ENST00000354516 ENST00000360091 ENST00000337299

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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COL2A1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for COL2A1

¹ / ² / ³

7 probe-sets matching COL2A1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
598_at²^{, 3}	U95-A	1	1.00	1.00	0.17	0.93	M60299	0.20	1.00	0.72	1
37605_at²^{, 3}	U95-A	1	1.00	1.00	0.68	0.30	L10347	0.20	1.00	0.72	1
85915_at²^{, 3}	U95-D	1	0.75	1.00	0.89	1.07	AI038847	0.60	1.00	0.82	1
217404_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	X16468	0.60	1.00	0.82	1
213492_at²^{, 3}	U133-A	1	1.00	1.00	--	--	X06268	0.60	1.00	0.82	1
217404_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
213492_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks COL2A1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GACATAGGAG

SOURCE GeneReport for Unigene cluster: Hs.408182
Expression variation in blood from EXPOLDB for COL2A1
UniProtKB/Swiss-Prot: CO2A1_HUMAN, P02458
Tissue specificity: High expression of isoform 2 in juvenile chondrocyte and low in fetal
chondrocyte

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for COL2A1 gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	COL2A1¹	--	collagen, type II, alpha 1	92.58(n) 98.32(a)	403826 NM_001006951.1 NP_001006952.1
chimpanzee (Pan troglodytes)	COL2A1¹	--	collagen, type II, alpha 1	99.62(n) 99.93(a)	451860 XM_509026.2 XP_509026.2
rat (Rattus norvegicus)	Col2a1¹	--	collagen, type II, alpha 1	89.62(n) 96.47(a)	25412 NM_012929.1 NP_037061.1
mouse (Mus musculus)	Col2a1^{1, 5}	15 (54.50 cM)⁵	collagen, type II, alpha 1^{1, 5}	89.08(n)¹ 95.21(a)¹	12824¹ NM_031163.2¹ NP_112440.1¹ AK028295⁵ AK053784⁵ (see all 20)
chicken (Gallus gallus)	COL2A1¹	--	collagen, type II, alpha 1	79.82(n) 92.58(a)	395069 NM_204426.1 NP_989757.1

About this table Species with no ortholog for COL2A1

ENSEMBL Gene Tree for COL2A1

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

Paralogs for COL2A1 gene

COL1A1² COL5A2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/375 NCBI SNPs in COL2A1 are shown (see all 375 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 214)

AB	SNP ID	Valid	Chr 12 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2070739^1,2	A,C,F,H,O	46654243(-)	`CAGCTA/GGCAAC`	2	G/S	mis¹ ese³		19		MN NS NA EU EA WA	2108
	rs2071357^1,2	A,C,F,H,O	46652814(-)	`ACCCAT/CTGTTG`	2	--	ng5¹		1		WA	118
	rs3803183^1,2	A,C,F,H	46684347(-)	`CCCAGT/ACGCTG`	2	S/T	mis¹ ese³		5		EA WA NA MN	496
	rs2071358^1,2	C,F,H	46652716(-)	`GACACC/ATTAGT`	2	--	ng5¹		14		EU EA WA	1434
	rs3803182^1,2	A,C,F	46684490(-)	`CTTCCT/CCCTCC`	2	--	ut5¹ trp³		1		MN	192
	rs12721427^1,2	C,F,H	46654808(-)	`CAAACG/ATTCCC`	2	I/V	mis¹ ese³		12		EU EA WA NA MN	1174
--	rs10783226^1,2	A,C,F	46684617(+)	`CCCCCA/CGCTGG`	2	--	ng3¹		1		MN	192
	rs34392760^1,2	C,F	46677924(+)	`ACTTTT/ATCACC`	2	D/E	mis¹		6		NA MN EU EA WA	678
	rs11168349^1,2	C,H	46684311(+)	`CCGAAG/AGACAG`	2	F/L	mis¹ ese³		4		EU EA WA	418
	rs2071356^1,2	A,C	46652817(-)	`GGAACC/TCACTG`	2	--	ng5¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for COL2A1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 120140

UniProtKB/Swiss-Prot: CO2A1_HUMAN, P02458

Defects in COL2A1 are the cause of a variety of chondrodysplasia including

hypochondrogenesis and osteoarthritis

Defects in COL2A1 are the cause of spondyloepiphyseal dysplasia congenital type (SEDC)

[MIM:183900]. This disorder is characterized by disproportionate short stature and pleiotropic

involvement of the skeletal and ocular systems

Defects in COL2A1 are the cause of Strudwick type spondyloepimetaphyseal dysplasia (SEMD)

[MIM:184250]. SEMD is characterized by disproportionate short stature, pectus carinatum, and

scoliosis, as well as dappled metaphyses (which is not seen in SEDC)

Defects in COL2A1 are the cause of achondrogenesis hypochondrogenesis type 2 (ACG2)

[MIM:200610]. ACG2 is a disease characterized by the absence of ossification in the vertebral

column, sacrum and pubic bones

Defects in COL2A1 are the cause of Legg-Calve-Perthes disease (LCPD) [MIM:150600]; also

known as Legg-Perthes disease or Perthes disease. LCPD is characterized by loss of circulation to

the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the

disease vary, depending on the phase of disease progression through ischemia, revascularization,

fracture and collapse, and repair and remodeling of the bone

Defects in COL2A1 are the cause of Kniest syndrome (KS) [MIM:156550]; also known as Kniest

dysplasia or metatropic dwarfism type II. KS is a moderately severe chondrodysplasia phenotype

that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short

trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing

loss

Defects in COL2A1 are a cause of primary avascular necrosis of femoral head (ANFH)

[MIM:608805]; also called ischemic necrosis of the femoral head or osteonecrosis of the femoral

head. ANFH causes disability that often requires surgical intervention. Most cases are sporadic,

but families in which there is an autosomal dominant inheritance of the disease have been

identified. It has been estimated that 300,000 to 600,000 people in the United States have ANFH.

Approximately 15,000 new cases of this common and disabling disorder are reported annually. The

age at the onset is earlier than that for osteoarthritis. The diagnosis is typically made when

patients are between the ages of 30 and 60 years. The clinical manifestations, such as pain on

exertion, a limping gait, and a discrepancy in leg length, cause considerable disability.

Moreover, nearly 10 percent of the 500,000 total-hip arthroplasties performed each year in the

United States involve patients with ANFH. As a result, this disease creates a substantial

socioeconomic cost as well as a burden for patients and their families

Defects in COL2A1 are the cause of osteoarthritis with mild chondrodysplasia [MIM:604864].

Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic

evidence of progressive degeneration of joint cartilage. Some forms of osteoarthritis are

secondary to events such as trauma, infections, metabolic disorders, or congenital or heritable

conditions that deform the epiphyses or related structures. In most patients, however, there is no

readily identifiable cause of osteoarthritis. Inheritance in a Mendelian dominant manner has been

demonstrated in some families with primary generalized osteoarthritis. Reports demonstrate

coinheritance of primary generalized osteoarthritis with specific alleles of the gene COL2A1, the

precursor of the major protein of cartilage

Defects in COL2A1 are the cause of platyspondylic lethal skeletal dysplasia Torrance type

(PLSD-T) [MIM:151210]. Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group

of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is

characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower

ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and

cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with

slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar

formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally

lethal disease, but a few long-term survivors have been reported

Defects in COL2A1 are the cause of multiple epiphyseal dysplasia with myopia and

conductive deafness (EDMMD) [MIM:132450]. Multiple epiphyseal dysplasia 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. EDMMD is an autosomal dominant disorder

characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning,

crenated cataracts, conductive deafness

Defects in COL2A1 are the cause of spondyloperipheral dysplasia (SPD) [MIM:271700]. SPD

patients manifest short stature, midface hypoplasia, sensorineural hearing loss,

spondyloepiphyseal dysplasia, platyspondyly and brachydactyly

Defects in COL2A1 are the cause of Wagner syndrome type II (WS-II); a disease

characterized by early-onset cataracts, lattice degeneration of the retina, and retinal detachment

without involvement of monocular tissues

Defects in COL2A1 are the cause of Stickler syndrome type 1 (STL1) [MIM:108300]; also

known as vitreous type 1, or membranous vitreous type. STL1 is 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. 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 COL2A1 are the cause of Stickler syndrome type 1 non-syndromic ocular (STL1O)

[MIM:609508]. STL1O is an autosomal dominant form of Stickler syndrome characterized by the ocular

signs typically seen in STL1 such as cataract, myopia, retinal detachment. STL1 systemic features

of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are

either absent or very mild in STL1O patients

Defects in COL2A1 are a cause of rhegmatogenous retinal detachment autosomal dominant

(DRRD) [MIM:609508]. Rhegmatogenous retinal detachment most frequently results from a break or

tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath

the retina. It is often associated with pathologic myopia and in most cases leads to visual

impairment or blindness if untreated

Of special interest are three different variants that replace arginine codons at positions

275, 719 and 989 in the triple-helical domain with codons for cysteine, an amino acid not normally

found in the triple-helical domain of type II collagen from any species. They are of special

interest, because they are the only amino acid substitutions in the triple-helical domain that

replaces a Y-position amino acid and cause a disease phenotype. Also, they are recurrent in that

they have been found in more than one unrelated individual

10/51 Novoseek disease relationships for COL2A1 gene (see all 51 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
kniest dysplasia	95.17	19	10406661 (3), 9269170 (2), 9675039 (2), 8863156 (2) (see all 13)
spondyloepiphyseal dysplasia	95.12	32	8893763 (2), 8325895 (2), 12968670 (2), 8244341 (2) (see all 25)
achondrogenesis, type ii	90.59	8	10797431 (3), 7829510 (2), 17994563 (2), 15054848 (1)
stickler syndrome, type i	89.55	4	16152640 (2), 18309337 (1), 16021188 (1)
sed congenita	83.48	2	12968670 (1), 1978986 (1)
collagen fibril	78.73	25	1946380 (3), 12440941 (2), 12917109 (2), 15480053 (1) (see all 18)
osteoarthritis	78.73	43	8244341 (2), 11708863 (2), 10735581 (2), 9811048 (2) (see all 35)
osmed	78.73	1	16189708 (1)
weissenbacher-zweymuller syndrome	78.26	1	9805126 (1)
skeletal dysplasia	76.47	3	15054848 (1), 14729840 (1), 15643621 (1)

About this table

GeneTests: COL2A1

Stickler Syndrome

Human Gene Mutation Database: COL2A1
Genetic Association Database: COL2A1
Human Genome Epidemiology Navigator: COL2A1 (18 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/419 PubMed articles for COL2A1 gene (see all 419 ):

Insulin-like growth factor I gene promoter polymorphism, collagen type II alpha1 (COL2A1) gene, and the prevalence of radiographic osteoarthritis: the Rotterdam Study. (PubMed id 15082485)^{1, 3, 6} Zhai G....van Duijn C.M. (2004)
A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. (PubMed id 15671297)^{1, 3, 4} Richards A.J.... Snead M.P. (2005)
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. (PubMed id 12939326)^{1, 3, 6} Go S.L....Hoyng C.B. (2003)
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. (PubMed id 10797431)^{1, 3, 4} Koerkkoe J.... Prockop D.J. (2000)
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. (PubMed id 11007540)^{1, 3, 4} Richards A.J.... Snead M.P. (2000)
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia. (PubMed id 8019561)^{1, 3, 4} Ritvaniemi P.... Prockop D.J. (1994)
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. (PubMed id 16752401)^{1, 3, 4} Richards A.J....Snead M.P. (2006)
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. (PubMed id 15643621)^{1, 3, 4} Zankl A.... Superti-Furga A. (2005)
Type II collagen gene variants and inherited osteonecrosis of the femoral head. (PubMed id 15930420)^{1, 3, 4} Liu Y.-F.... Tsai S.-F. (2005)
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. (PubMed id 15316962)^{1, 3, 4} Zankl A.... Superti-Furga A. (2004)

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

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

Entrez Gene: 1280	HGNC: 2200	AceView: COL2A1	Ensembl:ENSG00000139219	euGenes: HUgn1280
ECgene: COL2A1	H-InvDB: COL2A1

(According to HUGE)
About This Section

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

Name	Description
GeneReviews	http://www.genetests.org/query?gene=COL2A1

Licensable Technologies for COL2A1
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for COL2A1:

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COL2A1 Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for COL2A1

Summaries
for COL2A1

Genomic Location
for COL2A1

Proteins
for COL2A1

Protein Domains/
Families
for COL2A1

Gene Function
for COL2A1

Pathways & Interactions
for COL2A1

Drugs & Compounds
for COL2A1

Transcripts
for COL2A1

Expression
for COL2A1

Orthologs
for COL2A1

Paralogs
for COL2A1

SNPs/Variants
for COL2A1

Disorders & Mutations
for COL2A1

Medical News
for COL2A1

Publications
for COL2A1

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Genome Databases showing COL2A1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

COL2A1 Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor COL2A1

Summariesfor COL2A1

Genomic Locationfor COL2A1

Proteinsfor COL2A1

Protein Domains/Familiesfor COL2A1

Gene Functionfor COL2A1

Pathways & Interactionsfor COL2A1

Drugs & Compoundsfor COL2A1

Transcriptsfor COL2A1

Expression for COL2A1

Orthologsfor COL2A1

Paralogsfor COL2A1

SNPs/Variantsfor COL2A1

Disorders & Mutationsfor COL2A1

Medical Newsfor COL2A1

Publicationsfor COL2A1

Search for COL2A1

Genome Databases showing COL2A1

Other Databases showing COL2A1

Specialized Databases showing COL2A1

Licensable Technologiesfor COL2A1

Servicesfor COL2A1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for COL2A1

Summaries
for COL2A1

Genomic Location
for COL2A1

Proteins
for COL2A1

Protein Domains/
Families
for COL2A1

Gene Function
for COL2A1

Pathways & Interactions
for COL2A1

Drugs & Compounds
for COL2A1

Transcripts
for COL2A1

Expression
for COL2A1

Orthologs
for COL2A1

Paralogs
for COL2A1

SNPs/Variants
for COL2A1

Disorders & Mutations
for COL2A1

Medical News
for COL2A1

Publications
for COL2A1

Licensable Technologies
for COL2A1

Services
for COL2A1