GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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COL1A2 (collagen type I alpha 2 chain)

Gene

Collagen type I alpha 2 chain

COL1A2

EDSARTH2, EDSCV, OI4

7

7q21.3

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, Feb 2008]

Show/Hide all(207)

SNP ID	Visualize variation	Clinical significance	Consequence
rs66612022	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs66619856	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs66773001	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs66820119	G>A,C,T	Pathogenic	Splice acceptor variant
rs66883877	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs67162110	G>A,C	Pathogenic	Splice donor variant
rs67398234	G>A,T	Pathogenic	Splice donor variant
rs67525025	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs67543427	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs67609234	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs67707918	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs67729041	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs67768540	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs67865220	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs68132885	G>A,C	Pathogenic	Intron variant
rs72656354	A>G	Pathogenic	Intron variant
rs72656355	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs72656356	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656357	T>C	Pathogenic	Splice donor variant
rs72656359	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656360	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs72656363	AGTA>-	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs72656367	G>A	Pathogenic	Intron variant
rs72656369	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs72656370	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656375	A>G	Likely-pathogenic	Splice acceptor variant
rs72656386	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656387	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656389	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs72656390	G>A	Pathogenic	Missense variant, coding sequence variant
rs72656392	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs72656394	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs72656396	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs72656402	G>T	Pathogenic	Missense variant, coding sequence variant
rs72658103	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs72658104	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs72658108	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658117	G>T	Pathogenic	Missense variant, coding sequence variant
rs72658118	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658119	G>C	Pathogenic	Missense variant, coding sequence variant
rs72658121	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658127	A>G	Pathogenic	Intron variant
rs72658129	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs72658137	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658143	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658150	G>T	Pathogenic	Missense variant, coding sequence variant
rs72658151	G>A	Pathogenic	Splice donor variant
rs72658152	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658154	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72658157	G>A	Pathogenic	Intron variant
rs72658160	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs72658161	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658164	T>A	Likely-pathogenic	Intron variant
rs72658176	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658177	G>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72658182	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658185	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658186	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658189	G>C	Pathogenic	Missense variant, coding sequence variant
rs72658193	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658194	G>A	Pathogenic	Missense variant, coding sequence variant
rs72658198	G>A	Pathogenic	Splice donor variant
rs72658200	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659305	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659310	G>A	Pathogenic	Splice donor variant
rs72659312	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659319	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72659322	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659323	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659324	T>C	Pathogenic	Splice donor variant
rs72659325	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72659335	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs72659338	G>A	Pathogenic	Missense variant, coding sequence variant
rs72659340	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs72659343	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs72659345	ATAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs74315103	TCCCCCTGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs121912900	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912901	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912902	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912903	G>T	Pathogenic	Missense variant, coding sequence variant
rs121912904	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912905	G>T	Pathogenic	Missense variant, coding sequence variant
rs121912906	G>T	Pathogenic	Missense variant, coding sequence variant
rs121912907	G>T	Pathogenic	Missense variant, coding sequence variant
rs121912908	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121912909	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912910	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912911	G>C	Pathogenic	Missense variant, coding sequence variant
rs121912912	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs139851311	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142352627	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs144797861	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145355907	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs150124840	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs189557655	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs193922159	C>A,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922162	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs193922165	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922166	A>-	Likely-pathogenic	Intron variant, splice acceptor variant
rs193922167	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922168	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922173	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs193922175	GTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs200744314	A>G,T	Not-provided, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant
rs267606741	G>A	Pathogenic	Missense variant, coding sequence variant
rs267606742	G>A	Pathogenic	Missense variant, coding sequence variant
rs370234887	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs765470622	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs768171831	C>T	Likely-benign, likely-pathogenic	Coding sequence variant, missense variant
rs769600024	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786205587	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794727470	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs794727669	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs797044459	->C	Pathogenic	Coding sequence variant, frameshift variant
rs797044949	G>T	Pathogenic	Coding sequence variant, missense variant
rs886039689	G>A	Pathogenic	Missense variant, coding sequence variant
rs886041426	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041749	G>A	Pathogenic	Missense variant, coding sequence variant
rs886042129	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886043796	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs886044109	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs906553840	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs928361235	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057516036	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057516053	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057517953	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1057518136	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518967	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057524847	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057524873	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1064793527	T>-	Not-provided, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064794058	G>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs1064796419	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064796593	G>A	Pathogenic	Missense variant, coding sequence variant
rs1085307477	G>A	Pathogenic	Splice donor variant
rs1085307707	G>A	Pathogenic	Missense variant, coding sequence variant
rs1114167364	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1114167412	G>C	Pathogenic	Missense variant, coding sequence variant
rs1114167414	G>A	Pathogenic	Missense variant, coding sequence variant
rs1114167415	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1114167416	G>A	Pathogenic	Missense variant, coding sequence variant
rs1114167417	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1114167418	G>A	Pathogenic	Missense variant, coding sequence variant
rs1131691888	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131692167	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1200377228	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1410254723	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs1554395411	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554395431	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1554395470	T>G	Likely-pathogenic	Intron variant
rs1554395471	A>C,G	Likely-pathogenic	Splice acceptor variant
rs1554395833	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554395903	A>C	Pathogenic	Splice acceptor variant
rs1554395970	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554396083	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554396162	GGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554396271	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1554396283	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554396355	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554396361	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554396612	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554396615	G>C	Likely-pathogenic	Splice donor variant
rs1554396679	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554396680	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554396832	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs1554396983	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554397133	G>T	Pathogenic	Coding sequence variant, missense variant
rs1554397369	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554397621	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554397975	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554398126	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554398251	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554398261	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554398361	GT>-	Pathogenic	Coding sequence variant, splice donor variant
rs1554398396	->CCTGCTGGT	Pathogenic	Coding sequence variant, inframe insertion
rs1562899031	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562900123	CAGTAAGT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1562900513	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562905224	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562905246	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1562906013	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1562906570	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562907190	G>C	Likely-pathogenic	Splice donor variant
rs1562907287	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1584315950	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584316181	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1584318303	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584318648	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584318953	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584318956	TTGGTAACGCTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1584319045	GTCTTCCAGGCCTCTCCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584319418	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584319922	G>A	Pathogenic	Missense variant, coding sequence variant
rs1584320553	G>T	Pathogenic	Missense variant, coding sequence variant
rs1584320605	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1584321194	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584322737	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584324507	G>T	Pathogenic	Missense variant, coding sequence variant
rs1584325552	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584326393	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584328014	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584328061	AAGT>-	Pathogenic	Intron variant, splice donor variant
rs1584329740	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584330396	G>A	Pathogenic	Missense variant, coding sequence variant
rs1584330959	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584332692	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000472	hsa-let-7g-5p	qRT-PCR, Luciferase reporter assay, Western blot	20338660
MIRT001928	hsa-miR-29c-3p	Luciferase reporter assay, Reporter assay;Other	18390668
MIRT001928	hsa-miR-29c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT001928	hsa-miR-29c-3p	Microarray, qRT-PCR	24590289
MIRT569997	hsa-miR-6803-5p	PAR-CLIP	20371350
MIRT569998	hsa-miR-6751-5p	PAR-CLIP	20371350
MIRT569999	hsa-miR-7109-5p	PAR-CLIP	20371350
MIRT570000	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT570001	hsa-miR-1275	PAR-CLIP	20371350
MIRT570002	hsa-miR-569	PAR-CLIP	20371350
MIRT570003	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT570004	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT570005	hsa-miR-4525	PAR-CLIP	20371350
MIRT570006	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT570007	hsa-miR-5698	PAR-CLIP	20371350
MIRT570008	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT570009	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT570010	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT570011	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT570012	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT570013	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT570014	hsa-miR-4271	PAR-CLIP	20371350
MIRT570015	hsa-miR-6090	PAR-CLIP	20371350
MIRT570016	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT570017	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT570018	hsa-miR-4653-3p	PAR-CLIP	20371350
MIRT570019	hsa-miR-4533	PAR-CLIP	20371350
MIRT570020	hsa-miR-4424	PAR-CLIP	20371350
MIRT570021	hsa-miR-4781-5p	PAR-CLIP	20371350
MIRT731943	hsa-miR-26b-5p	Luciferase reporter assay, qRT-PCR, Western blot	28079129
MIRT733741	hsa-miR-25-3p	Immunofluorescence, Microarray, qRT-PCR	28059478
MIRT734292	hsa-miR-29a-3p	Luciferase reporter assay, Western blot	26794609

Transcription factors

Show/Hide all(17)

Transcription factor	Regulation	Reference
CEBPZ	Unknown	8910550
CIITA	Repression	16439692
CIITA	Unknown	15247294
EP300	Unknown	24058639
FLI1	Repression	24058639
HDAC1	Activation	16464847
HDAC1	Unknown	24058639
HDAC2	Repression	16464847
KLF11	Unknown	24069400
MYB	Activation	9989795
NFKB1	Repression	10201951
RELA	Repression	10201951
RFX1	Activation	16464847
RFX5	Repression	16464847;23079621
SIRT1	Repression	23079621
STAT6	Activation	14603527
YY1	Unknown	8910550

Show/Hide all(45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	8841196, 17955022, 18375391
GO:0001568	Process	Blood vessel development	IMP	17211858
GO:0002020	Function	Protease binding	IPI	19932771
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005201	Function	Extracellular matrix structural constituent	NAS	8982144
GO:0005515	Function	Protein binding	IPI	18375391, 25416956, 26848503, 26871637, 32296183
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	TAS
GO:0005584	Component	Collagen type I trimer	IBA	21873635
GO:0005584	Component	Collagen type I trimer	IDA	18375391, 19932771
GO:0005584	Component	Collagen type I trimer	IMP	17955022
GO:0005584	Component	Collagen type I trimer	TAS	6267597
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	18375391
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	17217948
GO:0007266	Process	Rho protein signal transduction	IDA	17217948
GO:0007596	Process	Blood coagulation	TAS
GO:0008217	Process	Regulation of blood pressure	IMP	17334644
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030168	Process	Platelet activation	TAS
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030199	Process	Collagen fibril organization	IMP	17211858, 18375391
GO:0030282	Process	Bone mineralization	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	18375391
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0032963	Process	Collagen metabolic process	IEA
GO:0042476	Process	Odontogenesis	NAS	1740554
GO:0042802	Function	Identical protein binding	IDA	17211858
GO:0043589	Process	Skin morphogenesis	IMP	17211858
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0050776	Process	Regulation of immune response	TAS
GO:0050900	Process	Leukocyte migration	TAS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28344315, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0070062	Component	Extracellular exosome	HDA	21362503
GO:0070208	Process	Protein heterotrimerization	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0085029	Process	Extracellular matrix assembly	IEA

MIM	HGNC	e!Ensembl
120160	2198	ENSG00000164692

Protein

UniProt ID

Protein name

Collagen alpha-2(I) chain (Alpha-2 type I collagen)

Protein function

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

PDB

5CTD , 5CTI , 5CVA , 6JEC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	29 → 82	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	88 → 150	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	130 → 207	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	460 → 529	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	601 → 665	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1045 → 1114	Collagen triple helix repeat (20 copies)	Repeat
PF01410	COLFI	1131 → 1365	Fibrillar collagen C-terminal domain	Family

Sequence

MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTG
PPGPPGPPGPPGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEP
GEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIR
GHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRVGAPGPAGARGSDGSV
GPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNP
GANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNK
GEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPP
GSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPI
GPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQ
GGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAA
GPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSGLPGERGAAGIPGGKGEKGEP
GLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPA
GPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDG
GPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPP
GFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIA
GPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAA
GAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLP
GLKGHNGLQGLPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIR
GPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRADQPRSAPSLRPKDYEVDATLK
SLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTG
ETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLL
ANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKK
TNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK

Sequence length

1366

Interactions

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