Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1280
Gene name Gene Name - the full gene name approved by the HGNC.	Collagen type II alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COL2A1
Synonyms (NCBI Gene) Gene synonyms aliases	ACG2, ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.11
Summary Summary of gene provided in NCBI Entrez Gene.	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 cong

Show/Hide all(178)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912864	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912868	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912869	G>A	Pathogenic	Coding sequence variant, stop gained
rs121912870	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912871	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912872	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912873	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs121912874	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912876	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912877	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912878	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912880	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912881	C>A	Pathogenic	Coding sequence variant, missense variant
rs121912883	C>G	Pathogenic	Coding sequence variant, missense variant
rs121912884	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121912885	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912886	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121912887	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121912888	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912889	T>C	Pathogenic	Coding sequence variant, missense variant
rs121912890	G>T	Pathogenic	Coding sequence variant, stop gained
rs121912891	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912893	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs121912894	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912895	T>C	Pathogenic	Coding sequence variant, missense variant
rs121912896	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, stop gained
rs121912897	G>A,T	Pathogenic	Synonymous variant, stop gained, 5 prime UTR variant, intron variant, coding sequence variant
rs121912898	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, missense variant
rs121912899	C>A	Pathogenic	Coding sequence variant, missense variant
rs138498898	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139114389	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant
rs147202936	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150237416	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201575114	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201823490	G>A	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202002349	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs202210896	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, 5 prime UTR variant, coding sequence variant
rs398123628	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776847	C>-	Pathogenic	Splice donor variant
rs672601354	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs672601355	->ACCCAGGAG	Pathogenic	Coding sequence variant, inframe insertion
rs727503882	C>G,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs748459670	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs751205887	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs753342774	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs760093841	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs764210489	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, 5 prime UTR variant
rs765795867	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs786205477	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794727026	C>T	Pathogenic	Splice donor variant
rs794727185	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727202	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794727225	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727261	G>T	Pathogenic	Intron variant, 5 prime UTR variant, stop gained, coding sequence variant
rs794727339	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794727377	T>G	Pathogenic	Splice acceptor variant
rs794727438	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794727462	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794727472	C>A,T	Pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs794727533	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs794727546	C>G	Pathogenic	Missense variant, coding sequence variant
rs794727684	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794727748	GTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727761	GGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs864621973	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs868417981	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs869312907	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041843	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs886041895	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041935	C>T	Pathogenic	Splice acceptor variant
rs886041945	C>G	Pathogenic	Coding sequence variant, missense variant
rs886042612	C>G	Pathogenic	Coding sequence variant, missense variant
rs886042651	G>A	Pathogenic	Coding sequence variant, stop gained
rs886042741	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs886043356	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886043561	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886043712	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886043794	C>T	Pathogenic	Splice donor variant
rs886043797	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043934	->G	Pathogenic	Coding sequence variant, frameshift variant
rs886044245	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs886044555	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1025202963	C>T	Pathogenic	Missense variant, coding sequence variant
rs1045330263	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1057518157	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1057518908	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518911	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521852	T>C,G	Likely-pathogenic	Intron variant
rs1057524602	C>A	Pathogenic	Missense variant, coding sequence variant
rs1057524696	C>G,T	Pathogenic	Splice donor variant
rs1064793352	A>G	Likely-pathogenic	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1064794264	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794958	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1064796170	ATG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1064796332	C>T	Pathogenic	Missense variant, coding sequence variant
rs1064797167	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307608	G>A	Pathogenic	Stop gained, coding sequence variant
rs1085307657	C>G	Pathogenic	Missense variant, coding sequence variant
rs1131691546	GT>TA	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1131691822	C>T	Pathogenic	Missense variant, coding sequence variant
rs1131692022	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1246771678	G>A,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, stop gained, synonymous variant
rs1269619781	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1408154129	C>T	Pathogenic	Intron variant
rs1481453913	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1555164217	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555164232	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555164385	TCGTCCAGATA>GGCAATGCT	Pathogenic	Frameshift variant, coding sequence variant
rs1555164672	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555164735	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555164789	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555164874	C>T	Likely-pathogenic	Splice donor variant
rs1555165110	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555165183	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555165195	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555165204	C>T	Pathogenic	Splice acceptor variant
rs1555165237	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555165242	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555165245	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555165335	CACGGGGCCAGGAGGACC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555165336	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555166658	C>T	Likely-pathogenic	Splice donor variant
rs1555166729	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555166808	C>T	Likely-pathogenic	Splice donor variant
rs1555166826	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555167058	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555167067	->C	Pathogenic	Coding sequence variant, splice acceptor variant
rs1555167139	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555167140	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555167156	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555167157	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555167368	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555167372	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555167439	GGGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555167449	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555167770	ACAACAGGGCACGTACCTTG>GCAACAGGGT	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1555167783	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555167847	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555168309	C>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1555168505	G>A	Pathogenic	Missense variant, coding sequence variant
rs1555168542	A>C	Likely-pathogenic	Intron variant
rs1555168840	C>G	Likely-pathogenic	Splice acceptor variant
rs1555168965	T>-	Likely-pathogenic	Intron variant
rs1565664095	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1565664375	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565666048	C>T	Pathogenic	Stop gained, coding sequence variant
rs1565666318	C>G	Pathogenic	Splice acceptor variant
rs1565679039	T>A	Pathogenic	Stop gained, coding sequence variant
rs1565679062	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565681966	A>C	Likely-pathogenic	Splice donor variant
rs1565683138	GGGCCCTGAGGACCAGCA>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1565683713	G>A	Pathogenic	Stop gained, coding sequence variant
rs1565684864	C>T	Pathogenic	Splice acceptor variant
rs1565686170	C>G	Likely-pathogenic	Splice donor variant
rs1565686896	G>A	Pathogenic	Stop gained, coding sequence variant
rs1592192920	CTCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592196064	A>G	Pathogenic	Splice donor variant
rs1592196744	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592196867	C>T	Pathogenic	Splice acceptor variant
rs1592197682	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592197752	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1592198747	C>G	Pathogenic	Missense variant, coding sequence variant
rs1592198803	T>C	Likely-pathogenic	Splice acceptor variant
rs1592199296	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592202517	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1592214400	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592217071	CT>-	Likely-pathogenic	Splice acceptor variant
rs1592218346	C>T	Pathogenic	Intron variant
rs1592218614	TCT>GGTCACA	Pathogenic	Frameshift variant, coding sequence variant
rs1592221192	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1592230091	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1592232040	C>T	Pathogenic	Missense variant, coding sequence variant
rs1592232116	T>C	Pathogenic	Splice acceptor variant
rs1592233968	GC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592235124	A>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1592235212	GG>T	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1592235241	G>-,GG	Likely-pathogenic, pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1592238899	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT048314	hsa-miR-106a-5p	CLASH	23622248
MIRT053741	hsa-miR-29b-3p	Microarray	22942087

Transcription factors

Show/Hide all(9)

Transcription factor	Regulation	Reference
NFKB1	Repression	19022820
RELA	Repression	19022820
SOX9	Activation	18636947;20529846
SOX9	Repression	12713737
SOX9	Unknown	15623506;18759300;20039424
SP1	Activation	12888570;18065760
SP1	Repression	12888570
SP3	Activation	12888570
SP3	Repression	18065760

Show/Hide all(65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	1429602
GO:0001502	Process	Cartilage condensation	IEA
GO:0001503	Process	Ossification	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005583	Component	Fibrillar collagen trimer	IEA
GO:0005585	Component	Collagen type II trimer	IBA
GO:0005585	Component	Collagen type II trimer	IDA	8660302, 24113490
GO:0005585	Component	Collagen type II trimer	IEA
GO:0005592	Component	Collagen type XI trimer	IDA	7642541
GO:0005592	Component	Collagen type XI trimer	NAS	17876790
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IMP	20603131
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006029	Process	Proteoglycan metabolic process	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007601	Process	Visual perception	IMP	10486316, 16752401
GO:0007605	Process	Sensory perception of sound	IMP	16752401
GO:0010468	Process	Regulation of gene expression	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IC	8660302
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	27559042, 28327460, 28675934
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IMP	1429602
GO:0030903	Process	Notochord development	IEA
GO:0031012	Component	Extracellular matrix	HDA	23658023, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0042289	Function	MHC class II protein binding	IPI	9354468
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	8660302
GO:0043394	Function	Proteoglycan binding	IDA	29030641
GO:0046872	Function	Metal ion binding	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0048513	Process	Animal organ development	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048731	Process	System development	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	TAS	7550321
GO:0060021	Process	Roof of mouth development	IEA
GO:0060174	Process	Limb bud formation	IEA
GO:0060272	Process	Embryonic skeletal joint morphogenesis	IMP	16752401
GO:0060348	Process	Bone development	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0071599	Process	Otic vesicle development	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:0097065	Process	Anterior head development	IEA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

MIM	HGNC	e!Ensembl
120140	2200	ENSG00000139219

Protein

UniProt ID

P02458

Protein name

Collagen alpha-1(II) chain (Alpha-1 type II collagen) [Cleaved into: Collagen alpha-1(II) chain; Chondrocalcin]

Protein 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.

PDB

1U5M , 2FSE , 2SEB , 5NIR , 5OCX , 5OCY , 6BIN , 6HG7 , 6NIX , 7NZE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00093	VWC	34 → 89	von Willebrand factor type C domain	Family
PF01391	Collagen	116 → 182	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	199 → 260	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	237 → 317	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	429 → 498	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	792 → 860	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1158 → 1217	Collagen triple helix repeat (20 copies)	Repeat
PF01410	COLFI	1251 → 1486	Fibrillar collagen C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte. {ECO:0000269|PubMed:2355003}.

Sequence

MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTG
TVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKG
PPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFA
AQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAPGPQGFQGNPGEPGEPGVSGPMG
PRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKG
EAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQPGPAGPPGPVG
PAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKG
SAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQG
APGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAG
PKGANGDPGRPGEPGLPGARGLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPG
VMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPG
PSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRG
LPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPG
KDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPG
ADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPG
AAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPG
DDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPG
PVGPPGLTGPAGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAG
PTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQG
LPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAG
PPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLK
SLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETG
ETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRL
LSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTK
HTGKWGKTVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL

Sequence length

1487

Interactions

View interactions

	KEGG		Reactome
	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction Protein digestion and absorption Human papillomavirus infection		Collagen degradation Extracellular matrix organization Collagen biosynthesis and modifying enzymes Signaling by PDGF Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Non-integrin membrane-ECM interactions ECM proteoglycans NCAM1 interactions MET activates PTK2 signaling Collagen chain trimerization

Show/Hide Causal Diseases (17)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Achondrogenesis	Achondrogenesis type II	rs1555165335, rs121912876, rs886044555, rs1555165245, rs121912888, rs1057518911, rs1592235241, rs765795867, rs121912878, rs868417981, rs121912879, rs121912884, rs1565681966, rs1555166729, rs121912899, rs1555165242, rs1555165494 View all (2 more)	N/A
Aseptic necrosis	avascular necrosis of femoral head, primary, 1	rs121912891, rs387906558	N/A
Connective Tissue Disease	Connective tissue disorder	rs121912870, rs1555167139, rs1085307608, rs527236145, rs1939205327	N/A
Kniest Dysplasia	kniest dysplasia	rs794727377, rs1565686170, rs2136609285, rs121912877, rs587776847	N/A
Otospondylomegaepiphyseal Dysplasia	Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive	rs1481453913, rs1045330263, rs1565683138	N/A
Platyspondylic Dysplasia	platyspondylic dysplasia, torrance type	rs121912889, rs1592192920	N/A
retinal dystrophy	Retinal dystrophy	rs1939312423, rs121912884, rs1399741348	N/A
Spondyloenchondrodysplasia	Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepimetaphyseal dysplasia, Strudwick type	rs886039542, rs121912871, rs1555168505, rs121912875, rs121912880, rs121912870, rs121912881	N/A
Spondyloepiphyseal dysplasia congenita	spondyloepiphyseal dysplasia congenita	rs1555164872, rs864621973, rs121912883, rs1565679062, rs1555168505, rs1025202963, rs886042651, rs1085307657, rs121912874, rs1555167783, rs886042849, rs121912870, rs1939205327	N/A
spondyloperipheral dysplasia	Spondyloperipheral dysplasia	rs2136504869, rs121912870, rs121912889, rs1592198803, rs121912890, rs121912874, rs886043356, rs121912880	N/A
Stickler Syndrome	stickler syndrome type 1, stickler syndrome, type i, nonsyndromic ocular	rs1399676515, rs1592232116, rs121912882, rs1555166218, rs1565679039, rs748459670, rs1592196064, rs1555166295, rs1592233968, rs121912896, rs794727377, rs1555166658, rs753342774, rs1592235241, rs1555166555 View all (37 more)	N/A
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	vitreoretinopathy with phalangeal epiphyseal dysplasia	rs121912887	N/A
Hypochondrogenesis	hypochondrogenesis	rs121912864, rs121912867, rs121912868	N/A
Retinal Detachment	retinal detachment	rs1592230091	N/A
Spondyloepiphyseal dysplasia	spondyloepiphyseal dysplasia, stanescu type	rs760093841, rs869312907, rs1592197682, rs886041895, rs1592198747	N/A
Stargardt Disease	stargardt disease	rs1592218346	N/A
stickler syndrome	Stickler syndrome	rs672601354, rs1592217071, rs672601355, rs121912893	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
mass syndrome	MASS syndrome	N/A	N/A	ClinVar
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Orofacial Cleft	orofacial cleft 1	N/A	N/A	ClinVar
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS
Spondylometaphyseal dysplasia	spondylometaphyseal dysplasia	N/A	N/A	GenCC
spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (154)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Achondrogenesis type 2	Associate	3195588, 34573377, 36939200, 7741714, 7829510
Achondroplasia	Associate	3005580, 9258750
Albinism	Associate	39596324
Alzheimer Disease	Associate	32854783
Arrhythmogenic Right Ventricular Dysplasia	Associate	35791160
Arthritis	Associate	20131279
Arthritis Rheumatoid	Inhibit	35955467
Arthropathy progressive pseudorheumatoid of childhood	Associate	26183434
Ascending aortic aneurysm hypertelorism bifid uvula cleft palate and arterial tortuosity	Associate	30170566
Astrocytoma	Associate	25521223
Atherosclerosis	Associate	35534923
Autistic Disorder	Associate	37107605
Bone Diseases	Associate	35617338
Brachydactyly	Associate	12205109, 16155195
Bursitis	Associate	36008780
Campomelic Dysplasia	Associate	31389106
Cartilage Diseases	Inhibit	27428952
Cartilage Diseases	Associate	28237856, 34616553, 9258750
Cataract	Associate	39596655, 8317498
Chondrocalcinosis 1	Inhibit	33557199
Chondroma	Associate	25024164
Chondrosarcoma	Associate	23770606, 25024164, 30291346, 31604924, 32469486
Chondrosarcoma Mesenchymal	Associate	40301759
Ciliopathies	Associate	39596324
Cleft Palate	Associate	20179744, 36830605
Collagen Diseases	Associate	11007540, 1971141, 26030151, 2732992, 39953747
Collagenopathy type 2 alpha 1	Associate	12205109, 16155195, 20204389, 26183434, 26626311, 26985960, 27888646, 33951325, 34380476, 35052477, 35296718, 40596606
Congenital Abnormalities	Associate	37806643
Corneal Opacity	Associate	30181686
Coxa Magna	Associate	15930420, 18512791, 27183340
Craniofacial Dysostosis with Diaphyseal Hyperplasia	Associate	26183434
Czech dysplasia metatarsal type	Associate	32071555
Developmental Disabilities	Associate	21442341, 37107605
Developmental Dysplasia of the Hip	Associate	18288556
Diabetes Mellitus Type 1	Associate	19901218
Diastrophic dysplasia	Associate	2732992, 2902229
Dwarfism Pituitary	Associate	36714562
Dyskinesia Familial with Facial Myokymia	Associate	10729292
Elbow Injuries	Associate	34182999
Epiphyseal dysplasia multiple 2	Associate	9258750
Epiphyseal Dysplasia Multiple with Myopia and Conductive Deafness	Associate	32071555
Epiphyseal Dysplasia of Femoral Head Myopia and Deafness	Associate	27183340
Exostoses Multiple Hereditary	Associate	2902229
Exudative vitreoretinopathy 1	Associate	23592912
Eye Abnormalities	Associate	25124518, 32478486, 35296718
Eye Diseases	Associate	18523590, 19430638
Eye Infections	Associate	26709265
Factors VIII IX And XI Combined Deficiency of	Associate	33678343
Familial Hypophosphatemic Rickets	Associate	37278761
Femoracetabular Impingement	Stimulate	23965695
Femur Head Necrosis	Associate	15930420, 18512791, 20204389, 28393228, 29750297, 34088323
Femur Head Necrosis	Inhibit	29208853
Fetal Diseases	Associate	33678343
Fibrocartilaginous embolism	Associate	25561896, 32943704
Flatfoot	Associate	28738883
Gait Ataxia	Associate	34182999
Genetic Diseases Inborn	Associate	20204389, 25124518, 33951325, 34380476, 34543885, 40596606
Genu Varum	Associate	28738883
Glomerulonephritis Membranous	Associate	11007540
Growth Disorders	Associate	35250876, 39953747
Gyrate Atrophy	Associate	39596324
Hearing Disorders	Associate	34182999, 35296718
Hearing Loss	Associate	20131279, 30170566
Hearing Loss Sensorineural	Associate	34182999
Heart Failure	Associate	28059113
HEM dysplasia	Associate	26626311, 28738883, 32752906, 33726816, 34573377, 34789231, 35052477, 35296718, 37443051
Hip Dislocation	Associate	21442341, 30740902, 33590889
Hip Injuries	Associate	23965695
Holoprosencephaly	Associate	30508070
Hyaloideoretinal degeneration of Wagner	Associate	10729292, 2319589, 23592912, 8317498
Hypertension	Associate	39596655
Hypertrophy	Associate	33590889
Hypochondrogenesis	Associate	10745044, 1374906, 1429602, 2572591, 34543885, 7741714, 8175802
Hypochondroplasia	Associate	2902229
Hypospadias	Inhibit	39755652
Hypoxia	Associate	16877351
Hypoxia	Stimulate	23965235, 28623370, 37108698
Ichthyosis prematurity syndrome	Associate	12205109
Infections	Associate	18523590
Inflammation	Associate	36594090
Intervertebral Disc Degeneration	Inhibit	30130742
Intervertebral Disc Degeneration	Associate	35409356
Intervertebral Disc Displacement	Associate	33181847
Jacobs syndrome	Associate	34182999
Joint Diseases	Associate	25124518, 37107605
Joint Instability	Associate	30181686
Kashin Beck Disease	Associate	28059113
Kniest dysplasia	Associate	12205109, 25592122, 3195588, 32071555, 34573377, 38013291, 7977371, 8863156
Lattice Degeneration of Retina Leading to Retinal Detachment	Associate	31908402
Legg Calve Perthes Disease	Associate	18512791, 20204389, 21442341, 24014797, 38195509
Leiomyoma	Associate	32372565
Leiomyomatosis	Associate	32372565
Leukemia Myelomonocytic Chronic	Associate	26875896
Leukodystrophy Metachromatic	Associate	34737199
Mandibular Injuries	Associate	27390512
Marfan Syndrome	Associate	35296718
MASS syndrome	Associate	35296718
Megaepiphyseal dwarfism	Associate	26985960
Mouth Diseases	Associate	28738883
Mouth Neoplasms	Associate	36849997
Musculoskeletal Abnormalities	Associate	35250876, 39953747
Musculoskeletal Diseases	Associate	34182999
Myopia	Associate	17653045, 19387081, 27390512, 30181686, 31736238, 32756486, 35567543, 37107605, 38073514, 38243264
Necrosis	Associate	25124518
Neoplasms	Associate	2745153, 31604924, 33147331, 40301759
Neoplastic Syndromes Hereditary	Associate	35296718
Neurodegenerative Diseases	Associate	20131279
O'Donnell Pappas syndrome	Associate	30181686
Oculodigitoesophagoduodenal syndrome	Associate	34737199
Osteoarthritis	Associate	10902746, 12096843, 15082485, 19333945, 1975693, 1985108, 20204389, 21442341, 25430712, 25761416, 27555113, 28256567, 29863238, 30280762, 30563239 View all (5 more)
Osteoarthritis	Stimulate	23965235
Osteoarthritis	Inhibit	27428952, 31042308, 34440671, 35955467, 39342381
Osteoarthritis Hip	Associate	12096843, 18288556, 18512791, 20204389
Osteoarthritis Knee	Associate	10902746
Osteoarthritis Knee	Inhibit	17195216
Osteoarthritis with Mild Chondrodysplasia	Associate	32071555
Osteochondrodysplasias	Associate	12205109, 1429602, 1671807, 18272325, 1905723, 1975693, 23079993, 2339128, 25124518, 2572591, 26183434, 27183340, 2902229, 30740902, 33002832, 35052477, 37278761, 8317498, 8325895 View all (4 more)
Patella Fracture	Associate	30740902
Pectus Carinatum	Associate	28738883
Phimosis	Associate	39755652
Pierre Robin Syndrome	Associate	8863161
Pilomatrixoma	Associate	15102076
Prostatic Neoplasms	Associate	20687218
Pseudoachondroplasia	Associate	2902229, 9258750
Pyle disease	Associate	28738883, 9258750
Renal Insufficiency	Associate	1985108
Retinal Cone Dystrophy 1	Associate	39596324
Retinal Detachment	Associate	10729292, 20179744, 30015854, 31908402, 32756486, 34182999, 35052368, 38073514, 8317498
Retinal Dystrophies	Associate	39596324, 40384762
Rhegmatogenous Retinal Detachment Autosomal Dominant	Associate	12205109, 12939326, 35791160, 39596655
Sacral defect and anterior sacral meningocele	Associate	34182999
Salter Harris Fractures	Associate	36714562
Scoliosis	Associate	25436060, 33590889, 35250876
Scoliosis	Stimulate	31337422
Short limb dwarfism Al Gazali type	Associate	2572591
Spinal Curvatures	Inhibit	39755652
Spinal Diseases	Associate	34182999
Spondylarthropathies	Associate	16155195
Spondyloepimetaphyseal Dysplasia X Linked	Associate	9258750
Spondyloepiphyseal dysplasia congenita	Associate	10745044, 16155195, 1971141, 26030151, 26985960, 30608389, 31972903, 32071555, 32446218, 33590889, 34182999, 35052477, 36966641, 39953747, 7847372, 8325895, 8423604 View all (2 more)
Spondyloepiphyseal dysplasia Omani type	Associate	32071555
Spondyloepiphyseal Dysplasia Tarda Autosomal Recessive	Associate	2902229
Spondylometaphyseal dysplasia 'corner fracture' type	Associate	27888646, 28738883
Spondyloperipheral dysplasia short ulna	Associate	21356074
Stickler syndrome type 1	Associate	10486316, 10729292, 11007540, 12939326, 16155195, 1677770, 19430638, 20179744, 22522174, 23592912, 23935403, 2573273, 26626311, 26709265, 27390512 View all (24 more)
Stickler syndrome type 2	Associate	30650974
Stomach Neoplasms	Associate	33582701
Temporomandibular Joint Dysfunction Syndrome	Associate	33181847
Toxoplasmosis Congenital	Associate	18523590, 19430638
Trichorhinophalangeal Syndrome Type I	Associate	2902229
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia	Associate	12205109
Vitreous Detachment	Associate	30181686
Vitreous Hemorrhage	Associate	20179744
Wounds and Injuries	Associate	40170451

COL2A1 (collagen type II alpha 1 chain)