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COL1A2 Gene

protein-coding GIFtS: 68

GC07P093861

collagen, type I, alpha 2
(Previous name: osteogenesis imperfecta type IV )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: OI4)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
OI4 ^²

Descriptions
Alpha-2 type I collagen ^³
alpha 2 type I collagen ^²
alpha 2(I)-collagen ^²
collagen I, alpha-2 polypeptide ^²
collagen of skin, tendon and bone, alpha-2 chain ^²
collagen, type I, alpha 2 ^²
osteogenesis imperfecta type IV ^¹
type I procollagen ^²

External Ids
HGNC: 2198¹
Entrez Gene: 1278²
UniProtKB: P08123³
Ensembl: ENSG00000164692⁷

Search outside databases for aliases for COL1A2 gene

Previous GC identifers: GC07P092559 GC07P093622 GC07P093636 GC07P093668

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

EntrezGene summary for COL1A2:

This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1

chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues

and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with

osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos

syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms

associated with mutations in this gene, however, tend to be less severe than mutations in the gene

for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in

matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals,

have been identified for this gene. [provided by R. Dalgleish]

UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123

Function: Type I collagen is a member of group I collagen (fibrillar forming collagen)

Gene Wiki entry for COL1A2

(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 COL1A2 gene

Entrez Gene cytogenetic band: 7q22.1 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q21.3

COL1A2 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 7 GeneLoc Exon Structure

GeneLoc location for GC07P093861: (about GC identifiers)

Start:	93,861,809 bp from pter
End:	93,898,480 bp from pter
Size:	36,672 bases
Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 93,353,052-93,389,700

RefSeq DNA sequence:

NC_000007.12 NT_007933.14 NT_079595.2

(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: CO1A2_HUMAN, P08123 (See protein sequence)

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

Size: 1366 amino acids; 129288 Da

Subunit: Trimers of one alpha 2(I) and two alpha 1(I) chains

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

Secondary accessions: P02464 Q13897 Q13997 Q13998 Q14038 Q14057 Q15177 Q15947 Q16480 Q16511 Q7Z5S6

Q9UEB6 Q9UEF9 Q9UM83 Q9UMI1 Q9UML5 Q9UMM6 Q9UPH0

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

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000080.2

ENSEMBL proteins:

ENSP00000377927 ENSP00000297268

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	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 1, Collagen I + Collagen III, Collagen I, Collagen I + II + III, COL1A2)
	Human Recombinant Proteins from Abnova (COL1A2)

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

5 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:0005584	collagen type I	TAS	6267597
GO:0005615	extracellular space	IDA	18375391
GO:0005886	plasma membrane	EXP	1715582 1939645 9028946 9280292 9295288 10778855

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Antibodies for COL1A2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Procollagen Type 1, Collagen I + Collagen III, Collagen I, Collagen I + II + III, COL1A2), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for COL1A2

Assays for COL1A2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	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 P08123

ProtoNet protein and cluster: P08123

3 Blocks protein families:

IPB000885 Fibrillar collagen

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123

Similarity: Belongs to the fibrillar collagen family

(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.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (COL1A2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000089

Applied Biosystems Silencer® siRNAs for COL1A2

Sigma-Aldrich siRNA and siRNA Panels for COL1A2

Sigma-Aldrich shRNA Panels and shRNA for COL1A2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000089
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000089
untagged cDNA clone in CMV expression vector: NM_000089

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_000089

UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123

Function: Type I collagen is a member of group I collagen (fibrillar forming collagen)

Genatlas biochemistry entry for COL1A2:

collagen type I,alpha 2,fibril forming,putative down-regulated c-Myc target gene,

8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Col1a2):

	behavior/neurological	growth/size	lethality-postnatal	limbs/digits/tail
muscle	skeleton	skin/coat/nails

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	NAS	8982144
GO:0030674	protein binding, bridging	IMP	18375391
GO:0042802	identical protein binding	IDA	17211858
GO:0046332	SMAD binding	IEA	--

About this table

(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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2 Sigma-Aldrich "Your Favorite Gene" Pathways for COL1A2 (Your Favorite Gene powered by Ingenuity)

Hepatic Fibrosis / Hepatic Stellate Cell Activation
Dendritic Cell Maturation

GeneDecks COL1A2 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for COL1A2

5/119 Interacting proteins for COL1A2 (P08123^{1, 2} ENSP00000297268³) via UniProtKB, MINT, and/or STRING (see all 119 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ITGA2	P17301², ENSP00000296585³	MINT-4792053 STRING (score=.99)
- - (xeno)	Q5YB85¹	EBI-983038, EBI-982988
SMAD3	ENSP00000332973³	STRING (score=.996)
FN1	ENSP00000323534³	STRING (score=.982)
TGFB1	ENSP00000221930³	STRING (score=.979)

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5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	IMP	8841196 17955022 18375391
GO:0001568	blood vessel development	IMP	17211858
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	NAS	15609325
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	17217948
GO:0007266	Rho protein signal transduction	IDA	17217948

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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 COL1A2
10/15 Novoseek chemical compound relationships for COL1A2 gene (see all 15 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
mspi	69.48	17	15777651 (3), 15599596 (2), 7835877 (2), 1675622 (1) (see all 10)
procollagen	65.37	3	7916744 (1), 18266309 (1), 10073586 (1)
rsai	64.44	7	7835877 (2), 16114820 (1), 18284430 (1), 11208313 (1) (see all 5)
nppa	61.48	2	14993121 (1), 15582321 (1)
ecori	41.02	7	7835877 (2), 1675622 (1), 16114820 (1), 11208313 (1) (see all 5)
cyanogen bromide	39.93	1	9721184 (1)
xbai	22.29	5	15777651 (3)
carbodiimide	19.48	1	2052622 (1)
oligonucleotide	18.37	2	7556374 (1), 10797313 (1)
hind iii	15.14	2	1675622 (1), 15917161 (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 (COL1A2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000089

Sigma-Aldrich siRNA and siRNA Panels for COL1A2

Sigma-Aldrich shRNA Panels and shRNA for COL1A2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000089

REFSEQ mRNAs for COL1A2 gene:

NM_000089.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000089

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000089
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000089
                                 untagged cDNA clone in CMV expression vector: NM_000089

Additional cDNA sequence:

AK223175.1 AK226074.1 AK297786.1 AK300194.1 AK309504.1 BC042586.1 BC054498.1 J00114.1

J03464.1 L47668.1 S96821.1 V00503.1 X55525.1 Y00724.1 Z74616.1

24/68 DOTS entries (see all 68 ):

DT.95171357 DT.100884035 DT.100884020 DT.95171333 DT.100884018 DT.95171203 DT.97866912 DT.100884016

DT.100884027 DT.100032421 DT.100884013 DT.100045973 DT.95171339 DT.121064706 DT.100662598 DT.121064821

DT.95171156 DT.121064715 DT.121064776 DT.121064787 DT.121642682 DT.453710 DT.121064721 DT.121064802

24/892 AceView cDNA sequences (see all 892 ):

BG057935 AW603342 AA334500 N66884 BM678518 CN481555 BQ180907 CN481291

BQ019403 CN484471 CN484779 AA339920 CD517399 BF436444 BQ004179 BG938659

AA347616 AW043675 AI754910 BF055450 AA056542 BF059275 AA346689 CA445321

highest scoring ESTs for COL1A2:

AW007256 V00503 AA112896 AA169251 AA178981 AA329543 AA446324 AA476933 AA490172 AA506630

Unigene Cluster for COL1A2:

Collagen, type I, alpha 2

Hs.489142 [show with all ESTs]

Unigene Representative Sequence: J03464

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for COL1A2 (see all 13 )

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^
SP1:
SP2:																	-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-
SP3:
SP4:
SP5:																													-		-		-		-		-		-		-		-		-		-		-		-

ExUns:	27	^	28	^	29a	·	29b	^	30	^	31a	·	31b	^	32	^	33	^	34a	·	34b	^	35	^	36a	·	36b	^	37a	·	37b	^	38a	·	38b	^	39	^	40a	·	40b	^	41a	·	41b	·	41c	^	42	^	43a	·
SP1:					-						-										-						-		-				-						-
SP2:	-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-
SP3:					-						-										-
SP4:											-
SP5:	-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-

ExUns:	43b	^	44a	·	44b	^	45a	·	45b	·	45c	^	46a	·	46b	·	46c	·	46d	^	47a	·	47b	^	48a	·	48b	·	48c	^	49	^	50
SP1:	-		-								-		-
SP2:	-		-		-		-				-		-
SP3:
SP4:
SP5:	-		-		-		-		-		-		-		-

About this scheme

ECgene alternative splicing isoforms for COL1A2

2 Ensembl transcripts including schematic representations:

ENST00000394405 ENST00000297268

(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 )
About This Section

COL1A2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for COL1A2

¹ / ² / ³

14 probe-sets matching COL1A2 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
64347_s_at²^{, 3}	U95-C	1	1.00	1.00	0.97	1.01	AW007256	1.00	1.00	1.00	1
32306_g_at²^{, 3}	U95-A	1	1.00	1.00	0.97	0.91	K01079	0.20	1.00	0.72	1
32307_s_at²^{, 3}	U95-A	1	1.00	1.00	0.98	0.85	V00503	1.00	1.00	1.00	1
63596_f_at²^{, 3}	U95-C	1	1.00	1.00	0.98	1.11	AI983633	0.20	1.00	0.72	1
49162_f_at²^{, 3}	U95-B	1	1.00	1.00	0.98	1.01	AI610692	0.80	1.00	0.91	1
60071_s_at²^{, 3}	U95-C	1	1.00	1.00	0.98	1.11	AI961907	0.80	1.00	0.91	1
75214_f_at²^{, 3}	U95-D	1	1.00	1.00	0.95	1.51	H89371	0.40	1.00	0.76	1
32305_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.70	K01079	0.20	1.00	0.72	1
32308_r_at²^{, 3}	U95-A	2	1.00	0.94	-0.29	0.18	V00503	1.00	1.00	1.00	1
87802_at*²^{, 3}	U95-E	1	--	--	0.89	0.80	AA613291	0.40	1.00	0.76	1
202404_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000089	0.60	1.00	0.82	1
202403_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AA788711	0.60	1.00	0.82	1
202404_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202403_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks COL1A2 for binary patterns associated with the probe-sets selected above

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Data from

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

CGAP SAGE TAG: GATGAGGAGA

SOURCE GeneReport for Unigene cluster: Hs.489142
Expression variation in blood from EXPOLDB for COL1A2
UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123
Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are
mineralized with calcium hydroxyapatite

(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 COL1A2 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	COL1A2¹	--	collagen, type I, alpha 2	91.63(n) 94.36(a)	403824 NM_001003187.1 NP_001003187.1
chimpanzee (Pan troglodytes)	COL1A2¹	--	collagen, type I, alpha 2	99.71(n) 99.78(a)	463542 XM_519207.2 XP_519207.2
cow (Bos taurus)	COL1A2¹	--	collagen, type I, alpha 2	90.32(n) 93.04(a)	282188 NM_174520.2 NP_776945.1
rat (Rattus norvegicus)	Col1a2¹	--	collagen, type I, alpha 2	88.53(n) 91.14(a)	84352 NM_053356.1 NP_445808.1
mouse (Mus musculus)	Col1a2^{1, 5}	6 (0.68 cM)⁵	collagen, type I, alpha 2^{1, 5}	87.65(n)¹ 90.04(a)¹	12843¹ NM_007743.2¹ NP_031769.2¹ AA960264⁵ AF345994⁵ (see all 39)

About this table Species with no ortholog for COL1A2

ENSEMBL Gene Tree for COL1A2

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

Paralogs for COL1A2 gene

COL3A1²

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

10/582 NCBI SNPs in COL1A2 are shown (see all 582 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 185)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs1062394^1,2	A,C,F,H	93898445(+)	`AAAATG/TAAATA`	1	--	ut3¹		8		MN EU EA WA NA	740
	rs3763467^1,2	C,F,H	93860054(-)	`TGGAAA/GTCATT`	1	--	ng5¹		11		NA EU EA WA	982
	rs42524^1,2	C,F,H	93881175(+)	`GTCCCG/CCTGGT`	1	A/P	mis¹		14		NA EA MN EU WA	1509
	rs390201^1,2	C,F,H	93861582(+)	`CTGGAC/AGGGGC`	1	--	ng5¹		2		EU WA	218
	rs418570^1,2	C,F,H	93897602(+)	`GACCAG/TGAATT`	1	Q/H	mis¹ ese³		8		MN EU EA WA NA	854
	rs1060399^1,2	A,F	93897835(+)	`TTCCCC/TCGCTC`	1	--	ut3¹ ese³ trp³		1		MN	184
	rs409108^1,2	C,H	93886753(+)	`TGCTCC/ATGGTG`	1	H/P	mis¹ ese³		8		NA EA MN EU WA	854
--	rs6955879^1,2	A,C	93897846(+)	`CCCCAA/GAAATT`	1	--	ut3¹		0	--	--	--	--
	rs408535^1,2	C,H	93887829(+)	`AGGAGC/GCAAAG`	1	A/G	mis¹ ese³		8		EA NA MN EU WA	662
	rs6962524^1,2	A,C	93860351(+)	`AAGAGG/TTTATT`	1	--	ng5¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for COL1A2 (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: 120160

UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123

Defects in COL1A2 are the cause of Ehlers-Danlos syndrome type 7B (EDS7B) [MIM:130060].

EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous

scars due to tissue fragility and joint hyperlaxity. EDS7B is marked by bilateral congenital hip

dislocation, hyperlaxity of the joints, and recurrent partial dislocations

Defects in COL1A2 are a cause of osteogenesis imperfecta type I (OI-I) [MIM:166200]. OI-I

is a dominantly inherited serious newborn disease characterized by bone fragility, normal stature,

little or no deformity, blue sclerae and hearing loss in 50% of families. Dentinogenesis

imperfecta is rare and may distinguish a subset of OI type I (formation of dentine)

Defects in COL1A2 are a cause of osteogenesis imperfecta type II (OI-II) [MIM:166210];

also known as osteogenesis imperfecta congenita (OIC) or lethal perinatal. OI-II is a serious

newborn disease that diffusely affects bone. Infants are born with multiple fractures, which lead

to shortening of the extremities. The skull is soft, and resembles a "bag of bones" when palpated,

the sclera are abnormally thin and may appear blue, and some infants also have a hearing loss.

Infants born alive often die suddenly during the first few days or weeks of life, but a few

survive as deformed dwarfs. Mental development is normal unless head trauma with CNS injury

occurs. There is no effective treatment

Defects in COL1A2 are the cause of cardiac valvular form of autosomal recessive

Ehlers-Danlos syndrome (cardiac valvular EDS) [MIM:225320]; also known as arthrochalasis type

Ehlers-Danlos syndrome. In addition to joint laxity, skin hyperextensibility and friability, and

abnormal scar formation, individuals with this form of EDS appear to be at increased risk for

cardiac valvular dysfunction

Defects in COL1A2 are a cause of osteogenesis imperfecta type III (OI-III) [MIM:259420].

OI-III usually presents with moderate deformity at birth, progressively deforming bones, and

sclerae variable in color. Dentinogenesis imperfecta and hearing loss are common. Stature is very

short

Defects in COL1A2 are a cause of osteogenesis imperfecta type IV (OI-IV) [MIM:166220];

also known as osteogenesis imperfecta with normal sclerae. OI-IV presents with moderate to mild

deformity and variable short stature. Dentinogenesis imperfecta is common and hearing loss occurs

in some

A chromosomal rearrangement involving COL1A2 may be a cause of lipoblastomas, which are

benign tumors resulting from transformation of adipocytes, usually diagnosed in children.

Translocation t(7;8)(p22;q13) with PLAG1

10/27 Novoseek disease relationships for COL1A2 gene (see all 27 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
osteogenesis imperfecta	94.37	61	1967900 (2), 1990009 (2), 15241796 (2), 10982177 (2) (see all 52)
oi, type i	90.27	6	1967900 (1), 8456806 (1), 8096115 (1), 9443882 (1) (see all 6)
oi, type iv	89.86	8	1967900 (1), 11836364 (1), 8096115 (1), 18375391 (1) (see all 8)
oi, type iii	89.11	6	8100856 (2), 19208385 (1), 9240878 (1), 11359465 (1)
osteogenesis imperfecta, type ii	88.38	5	17431984 (2), 18996919 (1), 17508636 (1)
ehlers-danlos syndrome, type i	79.11	1	1684560 (1)
ehlers-danlos syndrome	78.50	15	1990839 (2), 15077201 (2), 10982177 (2), 8071956 (2) (see all 11)
otosclerosis	54.88	3	17568407 (1), 16168495 (1), 15211650 (1)
sclerosis systemic	53.78	1	10872800 (1)
osteopenia	53.54	1	2052622 (1)

About this table

GeneTests: COL1A2

Human Gene Mutation Database: COL1A2
Genetic Association Database: COL1A2
Human Genome Epidemiology Navigator: COL1A2 (23 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

10/392 PubMed articles for COL1A2 gene (see all 392 ):

Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. (PubMed id 2897363)^{2, 3, 4} Wenstrup R.J....Byers P.H. (1988)
Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms. (PubMed id 14739420)^{1, 3, 6} Yoneyama T....Inoue I. (2004)
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. (PubMed id 15241796)^{1, 3, 6} Hartikka H....Ala-Kokko L. (2004)
Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. (PubMed id 15211650)^{1, 3, 6} Rodriguez L....Zapata C. (2004)
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. (PubMed id 15077201)^{1, 3, 4} Schwarze U.... Byers P.H. (2004)
Tests of linkage and association of the COL1A2 gene with bone phenotypes' variation in Chinese nuclear families. (PubMed id 14555266)^{1, 3, 6} Deng F.Y....Deng H.W. (2003)
Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls. (PubMed id 12813128)^{1, 3, 6} Suuriniemi M....Cheng S. (2003)
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. (PubMed id 9443882)^{1, 3, 4} Korkko J.M....Prockop D.J. (1998)
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. (PubMed id 2052622)^{1, 3, 4} Spotila L.D....Prockop D.J. (1991)
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. (PubMed id 10627137)^{1, 3, 4} Mottes M.... Freising P. (1998)

(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, and/or H-InvDB)
About This Section

Entrez Gene: 1278	HGNC: 2198	AceView: COL1A2	Ensembl:ENSG00000164692	euGenes: HUgn1278
ECgene: COL1A2	H-InvDB: COL1A2

(According to HUGE)
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(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
ATLAS Chromosomes in Cancer entry for COL1A2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=COL1A2

Licensable Technologies for COL1A2
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for COL1A2:

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Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for COL1A2-related products

	Millipore Custom Antibody & Bulk Services
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COL1A2 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for COL1A2

Summaries
for COL1A2

Genomic Location
for COL1A2

Proteins
for COL1A2

Protein Domains/
Families
for COL1A2

Gene Function
for COL1A2

Pathways & Interactions
for COL1A2

Drugs & Compounds
for COL1A2

Transcripts
for COL1A2

Expression
for COL1A2

Orthologs
for COL1A2

Paralogs
for COL1A2

SNPs/Variants
for COL1A2

Disorders & Mutations
for COL1A2

Medical News
for COL1A2

Publications
for COL1A2

Search for COL1A2

Genome Databases showing COL1A2

Other Databases showing COL1A2

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Licensable Technologies
for COL1A2

Services
for COL1A2

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

COL1A2 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor COL1A2

Summariesfor COL1A2

Genomic Locationfor COL1A2

Proteinsfor COL1A2

Protein Domains/Familiesfor COL1A2

Gene Functionfor COL1A2

Pathways & Interactionsfor COL1A2

Drugs & Compoundsfor COL1A2

Transcriptsfor COL1A2

Expression for COL1A2

Orthologsfor COL1A2

Paralogsfor COL1A2

SNPs/Variantsfor COL1A2

Disorders & Mutationsfor COL1A2

Medical Newsfor COL1A2

Publicationsfor COL1A2

Search for COL1A2

Genome Databases showing COL1A2

Other Databases showing COL1A2

Specialized Databases showing COL1A2

Licensable Technologiesfor COL1A2

Servicesfor COL1A2

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 COL1A2

Summaries
for COL1A2

Genomic Location
for COL1A2

Proteins
for COL1A2

Protein Domains/
Families
for COL1A2

Gene Function
for COL1A2

Pathways & Interactions
for COL1A2

Drugs & Compounds
for COL1A2

Transcripts
for COL1A2

Expression
for COL1A2

Orthologs
for COL1A2

Paralogs
for COL1A2

SNPs/Variants
for COL1A2

Disorders & Mutations
for COL1A2

Medical News
for COL1A2

Publications
for COL1A2

Licensable Technologies
for COL1A2

Services
for COL1A2