full name
collagen type I alpha 2 chain

synonyms
OI4, COL1A2, ENSG00000164692

HGNC
HGNC:2198

Entrez Gene
Gene:1278

ENSEMBL
ENSG00000164692

location
chr: 7
start: 94023873
stop: 94060544
strand: +

OMIM
OMIM:120160: COL1A2
OMIM:617821: Ehlers-Danlos syndrome, arthrochalasia type, 2
OMIM:225320: Ehlers-Danlos syndrome, cardiac valvular type
OMIM:166210: Osteogenesis imperfecta, type II
OMIM:259420: Osteogenesis imperfecta, type III
OMIM:166220: Osteogenesis imperfecta, type IV
OMIM:166710: {Osteoporosis, postmenopausal}

transcripts
NM_000089.3

pathways
AGE-RAGE signaling pathway in diabetic complications [NCBI:1319988] [KEGG:hsa04933] [PUBMED:23776698] [PUBMED:15569303] [PUBMED:16894049] [PUBMED:18323529] [PUBMED:11375353] [PUBMED:21111800] [PUBMED:19404313] [PUBMED:20470857] [PUBMED:17005604] [PUBMED:23961320] [PUBMED:21261520] [PUBMED:11180401] [PUBMED:18922799] [PUBMED:21680901] [PUBMED:11684565] [PUBMED:21590515] [PUBMED:12709399] [PUBMED:20300563] [PUBMED:21440603] [PUBMED:22558488]
Amoebiasis [NCBI:167324] [KEGG:hsa05146] [PUBMED:9832261] [PUBMED:16380324] [PUBMED:14700586] [PUBMED:18725798] [PUBMED:12142490] [PUBMED:10637584] [PUBMED:20145703] [PUBMED:11378035] [PUBMED:12160867] [PUBMED:15813717] [PUBMED:19207103] [PUBMED:12660071] [PUBMED:20303955] [PUBMED:11352795] [PUBMED:14502002] [PUBMED:10756002] [PUBMED:17702556] [PUBMED:17576362]
Assembly of collagen fibrils and other multimeric structures [NCBI:1270247] [REACTOME:R-HSA-2022090] [PUBMED:8645190] [PUBMED:21182410]
Binding and Uptake of Ligands by Scavenger Receptors [NCBI:1269897] [REACTOME:R-HSA-2173782] [PUBMED:16511968] [PUBMED:15904923] [PUBMED:218198] [PUBMED:19388903] [PUBMED:19659436]
C-MYB transcription factor network [NCBI:138073] [Pathway Interaction Database:cmyb_pathway] [PUBMED:17152050] [PUBMED:1944282] [PUBMED:7964503] [PUBMED:8598284] [PUBMED:15608679] [PUBMED:10619021] [PUBMED:2233716] [PUBMED:9244354] [PUBMED:8654374] [PUBMED:10590070] [PUBMED:17587615] [PUBMED:12424255] [PUBMED:1679531] [PUBMED:17077080] [PUBMED:8946914] [PUBMED:16055116] [PUBMED:11259163] [PUBMED:9659917] [PUBMED:9135152] [PUBMED:7721782] [PUBMED:11290610] [PUBMED:12244173] [PUBMED:11792321] [PUBMED:17242210] [PUBMED:10722757] [PUBMED:8264615] [PUBMED:15687240] [PUBMED:14761981] [PUBMED:10542314] [PUBMED:12673198] [PUBMED:11779867] [PUBMED:8756344] [PUBMED:11427482] [PUBMED:9809063] [PUBMED:10523863] [PUBMED:11094072] [PUBMED:15356292] [PUBMED:11781241] [PUBMED:15778089] [PUBMED:9096387] [PUBMED:17931383] [PUBMED:14576818] [PUBMED:11259170] [PUBMED:8491193] [PUBMED:11581319] [PUBMED:10644988] [PUBMED:7565722] [PUBMED:9490676] [PUBMED:9244356] [PUBMED:17641686] [PUBMED:16407849] [PUBMED:1594249] [PUBMED:17822556] [PUBMED:15867358] [PUBMED:17959653] [PUBMED:7509358] [PUBMED:11287612] [PUBMED:15082531] [PUBMED:10766162] [PUBMED:8756629] [PUBMED:11115410] [PUBMED:7684005] [PUBMED:9566892]
Collagen biosynthesis and modifying enzymes [NCBI:1270246] [REACTOME:R-HSA-1650814] [PUBMED:14698617] [PUBMED:17550969]
Collagen chain trimerization [NCBI:1470926] [REACTOME:R-HSA-8948216] [PUBMED:710450] [PUBMED:171650]
Collagen formation [NCBI:1270245] [REACTOME:R-HSA-1474290] [PUBMED:7574488] [PUBMED:19693541]
Cytokine Signaling in Immune system [NCBI:1269310] [REACTOME:R-HSA-1280215] [PUBMED:12613569]
ECM-receptor interaction [NCBI:83068] [KEGG:hsa04512] [PUBMED:7698997] [PUBMED:15381249] [PUBMED:12796473] [PUBMED:11331578] [PUBMED:15036264] [PUBMED:12125070] [PUBMED:12736199] [PUBMED:15229478] [PUBMED:11572082] [PUBMED:10617638] [PUBMED:12845610] [PUBMED:12921709]
Endothelins [NCBI:137958] [Pathway Interaction Database:endothelinpathway] [PUBMED:1319997] [PUBMED:12719447] [PUBMED:15047866] [PUBMED:1905483] [PUBMED:3144974] [PUBMED:12922939] [PUBMED:9595433] [PUBMED:2558572] [PUBMED:10364236] [PUBMED:11231316] [PUBMED:17569879] [PUBMED:11078350] [PUBMED:17535295] [PUBMED:17533154] [PUBMED:8764613] [PUBMED:8617878] [PUBMED:17526654] [PUBMED:8843717] [PUBMED:12606754] [PUBMED:15200122] [PUBMED:8319594] [PUBMED:17627891] [PUBMED:8940174] [PUBMED:12397581] [PUBMED:2545198]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Focal adhesion [NCBI:83067] [KEGG:hsa04510] [PUBMED:10698680] [PUBMED:15459662] [PUBMED:14756624] [PUBMED:11573199] [PUBMED:12640026] [PUBMED:15179030] [PUBMED:15108811] [PUBMED:15053919] [PUBMED:11082269] [PUBMED:15034601] [PUBMED:12235283] [PUBMED:14519391] [PUBMED:11146675] [PUBMED:11229600] [PUBMED:15688067] [PUBMED:14744429] [PUBMED:11882383]
IL4-mediated signaling events [NCBI:137933] [Pathway Interaction Database:il4_2pathway] [PUBMED:8602263] [PUBMED:15199062] [PUBMED:7705411] [PUBMED:11160325] [PUBMED:8557643] [PUBMED:8134361] [PUBMED:1948049] [PUBMED:10843732] [PUBMED:11034397] [PUBMED:8624802] [PUBMED:14557412] [PUBMED:1997653] [PUBMED:10586089] [PUBMED:14634100] [PUBMED:17541284] [PUBMED:8124718] [PUBMED:16210622] [PUBMED:7822337] [PUBMED:11572871] [PUBMED:2147202] [PUBMED:10228008] [PUBMED:7675087] [PUBMED:12574343] [PUBMED:14603527] [PUBMED:15659391] [PUBMED:11160269] [PUBMED:7760829] [PUBMED:7973658] [PUBMED:10072514] [PUBMED:9013879] [PUBMED:8624803] [PUBMED:10490661] [PUBMED:14978013] [PUBMED:10364072] [PUBMED:12459556] [PUBMED:11714803] [PUBMED:8602264] [PUBMED:9811885] [PUBMED:12776189] [PUBMED:15728454] [PUBMED:10601358] [PUBMED:11739727] [PUBMED:11160275] [PUBMED:9852037] [PUBMED:9670964] [PUBMED:15004182] [PUBMED:8266078] [PUBMED:3144043] [PUBMED:8992992] [PUBMED:8089482] [PUBMED:9651359] [PUBMED:16810739] [PUBMED:7499365] [PUBMED:7721786] [PUBMED:9065461] [PUBMED:11241672] [PUBMED:10950967] [PUBMED:8810328] [PUBMED:8624821] [PUBMED:9110977] [PUBMED:8609418] [PUBMED:15187136] [PUBMED:9414268] [PUBMED:8916957] [PUBMED:10201892] [PUBMED:17200144] [PUBMED:8458387] [PUBMED:11544308] [PUBMED:10657944] [PUBMED:15153491] [PUBMED:7544011] [PUBMED:8266076] [PUBMED:11801631] [PUBMED:12044779] [PUBMED:8621475] [PUBMED:9697832] [PUBMED:12242343] [PUBMED:7694370] [PUBMED:9380721] [PUBMED:9541585] [PUBMED:7807002] [PUBMED:16537510] [PUBMED:8258319] [PUBMED:9799097] [PUBMED:12023955] [PUBMED:8085155]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Interleukin-4 and 13 signaling [NCBI:1470923] [REACTOME:R-HSA-6785807] [PUBMED:12704343] [PUBMED:10358772]
PI3K-Akt signaling pathway [NCBI:692234] [KEGG:hsa04151] [PUBMED:12048182] [PUBMED:11357143] [PUBMED:21440011] [PUBMED:15209374] [PUBMED:12669022] [PUBMED:18842113] [PUBMED:16847462] [PUBMED:12660731] [PUBMED:17360849] [PUBMED:9838078] [PUBMED:15505410] [PUBMED:16248975] [PUBMED:12531180] [PUBMED:21779440] [PUBMED:16187290] [PUBMED:15784165] [PUBMED:21620960]
Platelet activation [NCBI:952858] [KEGG:hsa04611] [PUBMED:20002545] [PUBMED:18363565] [PUBMED:18544684] [PUBMED:18174460] [PUBMED:23106920] [PUBMED:18550847] [PUBMED:22119499] [PUBMED:19630797] [PUBMED:19286885] [PUBMED:17158345] [PUBMED:20089227] [PUBMED:22701130] [PUBMED:21071698] [PUBMED:23805129] [PUBMED:16149014] [PUBMED:18641368]
Protein digestion and absorption [NCBI:172847] [KEGG:hsa04974] [PUBMED:15772300] [PUBMED:18195088] [PUBMED:9687539] [PUBMED:18400692] [PUBMED:12583961] [PUBMED:18626068] [PUBMED:20522896] [PUBMED:14977407] [PUBMED:7937532] [PUBMED:11546643] [PUBMED:20093818] [PUBMED:16887608] [PUBMED:12237156]
Regulation of nuclear SMAD2/3 signaling [NCBI:137963] [Pathway Interaction Database:smad2_3nuclearpathway] [PUBMED:15009097] [PUBMED:11790301] [PUBMED:11836524] [PUBMED:10995736] [PUBMED:11114293] [PUBMED:10973944] [PUBMED:10022869] [PUBMED:11058129] [PUBMED:9722503] [PUBMED:12904571] [PUBMED:14993291] [PUBMED:11013220] [PUBMED:15363409] [PUBMED:9702197] [PUBMED:12718878] [PUBMED:11331591] [PUBMED:12167862] [PUBMED:14729983] [PUBMED:9707553] [PUBMED:10878024] [PUBMED:9679060] [PUBMED:10887155] [PUBMED:10199400] [PUBMED:12631740] [PUBMED:11555647] [PUBMED:15688032] [PUBMED:12150994] [PUBMED:12374795] [PUBMED:9606191] [PUBMED:9702198] [PUBMED:10518526] [PUBMED:10575014] [PUBMED:10485843] [PUBMED:11283614] [PUBMED:10722728] [PUBMED:10037600] [PUBMED:15241418] [PUBMED:14691252] [PUBMED:10748032] [PUBMED:12551947] [PUBMED:14671321] [PUBMED:11427533] [PUBMED:11711431] [PUBMED:10531362] [PUBMED:11571228] [PUBMED:10085140] [PUBMED:17478422] [PUBMED:15044954] [PUBMED:10964912] [PUBMED:11707452] [PUBMED:11801598] [PUBMED:17074756] [PUBMED:12226080] [PUBMED:10557285] [PUBMED:10843994] [PUBMED:15084259] [PUBMED:10531062] [PUBMED:16959612] [PUBMED:9679056] [PUBMED:10652350] [PUBMED:9618481] [PUBMED:11927558] [PUBMED:9732876]
Scavenging by Class A Receptors [NCBI:1269899] [REACTOME:R-HSA-3000480] [PUBMED:19120472] [PUBMED:11820786] [PUBMED:8429029] [PUBMED:2300208] [PUBMED:19388903]
Signaling by Interleukins [NCBI:1269318] [REACTOME:R-HSA-449147] [PUBMED:19302047] [PUBMED:12445398]
VEGFR3 signaling in lymphatic endothelium [NCBI:137996] [Pathway Interaction Database:lymphangiogenesis_pathway] [PUBMED:12881528] [PUBMED:8617204] [PUBMED:10449752] [PUBMED:9247316] [PUBMED:11335727] [PUBMED:9012504] [PUBMED:9435229] [PUBMED:16076871] [PUBMED:11532940] [PUBMED:9927207] [PUBMED:11553610] [PUBMED:7675451] [PUBMED:8662748] [PUBMED:16633338]
Validated targets of C-MYC transcriptional repression [NCBI:169353] [Pathway Interaction Database:myc_represspathway] [PUBMED:17082179] [PUBMED:11282029] [PUBMED:9869632] [PUBMED:15021909] [PUBMED:16167342] [PUBMED:18056446] [PUBMED:18045875] [PUBMED:1670896] [PUBMED:18393360] [PUBMED:7556187] [PUBMED:11313917] [PUBMED:17471507] [PUBMED:12418961] [PUBMED:9927431] [PUBMED:9924025] [PUBMED:18483244] [PUBMED:14716294] [PUBMED:15506972] [PUBMED:15616584] [PUBMED:12729735] [PUBMED:19219026] [PUBMED:12747840] [PUBMED:2182320] [PUBMED:12545156] [PUBMED:15367674] [PUBMED:11283613] [PUBMED:12384701] [PUBMED:18066065] [PUBMED:18455888] [PUBMED:10920185] [PUBMED:17881732] [PUBMED:20190815] [PUBMED:16352593] [PUBMED:17050536] [PUBMED:11283614] [PUBMED:16391002] [PUBMED:11804592] [PUBMED:7870572] [PUBMED:16940161] [PUBMED:12695333] [PUBMED:17159920] [PUBMED:8972190] [PUBMED:9312026] [PUBMED:17485441] [PUBMED:16288014]
Validated transcriptional targets of AP1 family members Fra1 and Fra2 [NCBI:169349] [Pathway Interaction Database:fra_pathway] [PUBMED:20386569] [PUBMED:1827665] [PUBMED:17510314] [PUBMED:17001307] [PUBMED:19419315] [PUBMED:12121977] [PUBMED:15790882] [PUBMED:18435914] [PUBMED:1406676] [PUBMED:20543861] [PUBMED:19687301] [PUBMED:9651314] [PUBMED:20392257] [PUBMED:20472895] [PUBMED:16554298] [PUBMED:17496887] [PUBMED:19995753] [PUBMED:8058317] [PUBMED:2497053] [PUBMED:8798756] [PUBMED:17347653] [PUBMED:18331200] [PUBMED:19966854] [PUBMED:17882273] [PUBMED:9858556] [PUBMED:3130660] [PUBMED:19289495] [PUBMED:11756554] [PUBMED:1945831] [PUBMED:15688012] [PUBMED:8441422] [PUBMED:17371847] [PUBMED:10421804] [PUBMED:2110368] [PUBMED:18548006] [PUBMED:20353950] [PUBMED:15229648] [PUBMED:11425864] [PUBMED:15601844] [PUBMED:10918580] [PUBMED:9858557] [PUBMED:19716794] [PUBMED:9819396] [PUBMED:17052890] [PUBMED:20398633] [PUBMED:20371606] [PUBMED:10359014] [PUBMED:15143165] [PUBMED:15618352] [PUBMED:9160889] [PUBMED:12052899] [PUBMED:9409785] [PUBMED:15291758] [PUBMED:1923525] [PUBMED:7759510] [PUBMED:15608675] [PUBMED:14519134] [PUBMED:20053986] [PUBMED:15256456] [PUBMED:19923172] [PUBMED:15558021] [PUBMED:12773579]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]