COL1A2 (collagen type I alpha 2 chain)

基因基本信息

基因基本信息

symbol:
COL1A2
locus group:
protein-coding gene
location:
7q21.3
gene_family:
Collagens
alias symbol:
None
alias name:
alpha 2(I)-collagen|alpha-2 coll...
entrez id:
1278
ensembl gene id:
ENSG00000164692
ucsc gene id:
uc003ung.1
refseq accession:
NM_000089
hgnc_id:
HGNC:2198
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

7q21.3

基因简述

基因简述

COL1A2基因编码胶原蛋白α2(I)链，是I型胶原的主要组成部分之一。I型胶原是人体最丰富的胶原类型，广泛存在于骨骼、皮肤、肌腱、韧带和血管等结缔组织中，提供结构支持和机械强度。COL1A2属于胶原蛋白基因家族，该家族成员共同特点是编码三螺旋结构的胶原蛋白，由重复的Gly-X-Y氨基酸序列组成，其中X和Y常为脯氨酸和羟脯氨酸。COL1A2与COL1A1基因共同形成异源三聚体（两个α1链和一个α2链），构成I型胶原的基本单位。COL1A2突变可导致多种疾病，最常见的是成骨不全症（脆骨病），表现为骨骼脆弱、易骨折、关节松弛和听力丧失。突变类型包括错义突变、缺失或剪接位点突变，影响胶原三螺旋结构的稳定性或分泌。Ehlers-Danlos综合征（血管型）也与COL1A2突变相关，特征是血管和器官脆弱易破裂。COL1A2过表达可能导致纤维化疾病，如肝纤维化或肺纤维化，因为过量I型胶原沉积会破坏组织正常结构。表达降低则可能引起骨质疏松或伤口愈合障碍，因为胶原合成不足影响组织修复。COL1A2表达受TGF-β等生长因子调控，并与MMP（基质金属蛋白酶）活性相关，后者负责降解胶原。该基因还与某些癌症转移相关，因为肿瘤微环境中I型胶原的改变可影响癌细胞侵袭。COL1A2突变小鼠模型显示骨骼发育异常和皮肤脆弱，验证了其在结缔组织中的关键作用。

中文English

该基因编码I型胶原类型的亲的α2链的三螺旋结构包括两个ALPHA1链和一个α2链。 I型在大多数结缔组织发现原纤维形成的胶原蛋白，并在骨，角膜，真皮和肌腱丰富。在这个基因的突变与成骨不全症类型I-IV，埃勒斯 - 当洛综合征型VIIB，隐性埃勒斯 - 当洛综合征古典型，特发性骨质疏松症和非典型马凡氏综合征。与此基因的突变相关的症状，但是，往往比在基因为I型胶原蛋白（COL1A1）的α1链突变较不严重反射的α2链的基质完整性的不同的作用。三转录，从使用备用聚腺苷酸化信号的产生，已经确定了该基因。 [由R.达格利什，2008年2月提供]

OMIM数据库中对COL1A2基因的介绍     Wikipedia数据库中对COL1A2基因的介绍

基因序列

基因序列

COL1A2基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MLSFVDTRTL LLLAVTLCLA TCQSLQEETV RKGPAGDRGP
41RGERGPPGPP GRDGEDGPTG PPGPPGPPGP PGLGGNFAAQ
81 YDGKGVGLG PGPMGLMGPR GPPGAAGAPG PQGFQGPAGE
121PGEPGQTGPA GARGPAGPPG KAGEDGHPGK PGRPGERGVV
161G PQGARGFP GTPGLPGFKG IRGHNGLDGL KGQPGAPGVK
201GEPGAPGENG TPGQTGARGL PGERGRVGAP GPAGARGSDG
241SV GPVGPAG PIGSAGPPGF PGAPGPKGEI GAVGNAGPAG
281PAGPRGEVGL PGLSGPVGPP GNPGANGLTG AKGAAGLPGV
321AGA PGLPGP RGIPGPVGAA GATGARGLVG EPGPAGSKGE
361SGNKGEPGSA GPQGPPGPSG EEGKRGPNGE AGSAGPPGPP
401GLRG SPGSR GLPGADGRAG VMGPPGSRGA SGPAGVRGPN
441GDAGRPGEPG LMGPRGLPGS PGNIGPAGKE GPVGLPGIDG
481RPGPI GPAG ARGEPGNIGF PGPKGPTGDP GKNGDKGHAG
521LAGARGAPGP DGNNGAQGPP GPQGVQGGKG EQGPPGPPGF
561QGLPGP SGP AGEVGKPGER GLHGEFGLPG PAGPRGERGP
601PGESGAAGPT GPIGSRGPSG PPGPDGNKGE PGVVGAVGTA
641GPSGPSG LP GERGAAGIPG GKGEKGEPGL RGEIGNPGRD
681GARGAPGAVG APGPAGATGD RGEAGAAGPA GPAGPRGSPG
721ERGEVGPA G PNGFAGPAGA AGQPGAKGER GAKGPKGENG
761VVGPTGPVGA AGPAGPNGPP GPAGSRGDGG PPGMTGFPGA
801AGRTGPPGP SGISGPPGPP GPAGKEGLRG PRGDQGPVGR
841TGEVGAVGPP GFAGEKGPSG EAGTAGPPGT PGPQGLLGAP
881GILGLPGSRG ERGLPGVAG AVGEPGPLGI AGPPGARGPP
921GAVGSPGVNG APGEAGRDGN PGNDGPPGRD GQPGHKGERG
961YPGNIGPVGA A GAPGPHGP VGPAGKHGNR GETGPSGPVG
1001PAGAVGPRGP SGPQGIRGDK GEPGEKGPRG LPGLKGHNGL
1041QGLPGIAGHH GD QGAPGSV GPAGPRGPAG PSGPAGKDGR
1081TGHPGTVGPA GIRGPQGHQG PAGPPGPPGP PGPPGVSGGG
1121YDFGYDGDFY RAD QPRSAP SLRPKDYEVD ATLKSLNNQI
1161ETLLTPEGSR KNPARTCRDL RLSHPEWSSG YYWIDPNQGC
1201TMDAIKVYCD FSTG ETCIR AQPENIPAKN WYRSSKDKKH
1241VWLGETINAG SQFEYNVEGV TSKEMATQLA FMRLLANYAS
1281QNITYHCKNS IAYMD EETG NLKKAVILQG SNDVELVAEG
1321NSRFTYTVLV DGCSKKTNEW GKTIIEYKTN KPSRLPFLDI
1361APLDIGGADQ EFFVDI GPV CFK
结构预测来自 AlphaFold DB（UniProt: P08123），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

COL1A2基因的碱基突变：           仅显示部分snp
rs663       rs2472       rs3917       rs4266       rs17073       rs42517       rs42518       rs42519       rs42520       rs42521       rs42522       rs42523       rs42524       rs42525       rs42526       rs42527       rs42528      

基因表达

基因表达

COL1A2基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CAATATTGGTCCCGTTGGTG
59
AGAAGGACCAGTTTCACCA
59
TGAAGGCTCTAGAAAGAACCC
60
CAGTAGTAACCACTGCTCCA
59
CAATGGATTTGCTGGTCCTG
60
TCCTCTTTCTCCTTTAGCACC
60
TGAAGGCTCTAGAAAGAACCC
60
CAGTAGTAACCACTGCTCCA
59
CAATGGATTTGCTGGTCCTG
60
TCCTCTTTCTCCTTTAGCACC
60
CATGCCAATCTTTACAAGAGGA
59
ATCTTCACCATCTCTGCCT
58
ATGGTGATCAAGGTGCTCC
60
CTGTACCAGGATGTCCAGTG
60
GAGTTTGGTCTCCCTGGTC
60
CAATAGGACCAGTAGGACCG
59
TGAAGGCTCTAGAAAGAACCC
59
CAGTAGTAACCACTGCTCCA
59
ACTGTAAGAAAGGGCCCAG
59
ATCTTCACCATCTCTGCCTG
60

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
CEBPZ
COL1A2
Unknown
8910550
CIITA
COL1A2
Repression
16439692
CIITA
COL1A2
Unknown
15247294
EP300
COL1A2
Unknown
24058639
FLI1
COL1A2
Repression
24058639
HDAC1
COL1A2
Activation
16464847
HDAC1
COL1A2
Unknown
24058639
HDAC2
COL1A2
Repression
16464847
KLF11
COL1A2
Unknown
24069400
MYB
COL1A2
Activation
9989795

基因本体信息

COL1A2基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

COL1A2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005201
A0A087WTA8 (UniProtKB)
IEA
GO:0005578
A0A087WTA8 (UniProtKB)
IEA
GO:0005581
A0A087WTA8 (UniProtKB)
IEA
GO:0001501
P08123 (UniProtKB)
IMP
GO:0001501
P08123 (UniProtKB)
IMP
GO:0001501
P08123 (UniProtKB)
IMP
GO:0001568
P08123 (UniProtKB)
IMP
GO:0005201
P08123 (UniProtKB)
NAS
GO:0005515
P08123 (UniProtKB)
IPI
GO:0005515
P08123 (UniProtKB)
IPI
GO:0005515
P08123 (UniProtKB)
IPI
GO:0005515
P08123 (UniProtKB)
IPI
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005576
P08123 (UniProtKB)
TAS
GO:0005584
P08123 (UniProtKB)
IMP
GO:0005584
P08123 (UniProtKB)
IDA
GO:0005584
P08123 (UniProtKB)
TAS
GO:0005615
P08123 (UniProtKB)
IDA
GO:0005788
P08123 (UniProtKB)
TAS
GO:0005788
P08123 (UniProtKB)
TAS
GO:0005788
P08123 (UniProtKB)
TAS
GO:0005788
P08123 (UniProtKB)
TAS
GO:0005788
P08123 (UniProtKB)
TAS
GO:0007179
P08123 (UniProtKB)
IDA
GO:0007266
P08123 (UniProtKB)
IDA
GO:0007596
P08123 (UniProtKB)
TAS
GO:0008217
P08123 (UniProtKB)
IMP
GO:0030168
P08123 (UniProtKB)
TAS
GO:0030198
P08123 (UniProtKB)
TAS
GO:0030199
P08123 (UniProtKB)
IMP
GO:0030199
P08123 (UniProtKB)
IMP
GO:0030574
P08123 (UniProtKB)
TAS
GO:0030674
P08123 (UniProtKB)
IMP
GO:0031012
P08123 (UniProtKB)
IDA
GO:0042476
P08123 (UniProtKB)
NAS
GO:0042802
P08123 (UniProtKB)
IDA
GO:0043589
P08123 (UniProtKB)
IMP
GO:0046332
P08123 (UniProtKB)
IEA
GO:0046872
P08123 (UniProtKB)
IEA
GO:0048407
P08123 (UniProtKB)
IDA
GO:0050776
P08123 (UniProtKB)
TAS
GO:0050900
P08123 (UniProtKB)
TAS
GO:0070062
P08123 (UniProtKB)
IDA
GO:0070208
P08123 (UniProtKB)
IEA
GO:0071230
P08123 (UniProtKB)
IEA
GO:0031012
P08123 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 COL1A2基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
Reactome
加载中…
关联基因 作用方式 资源库来源/分值

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Osteogenesis imperfecta type III (disorder) 0.561357209 18 14 BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
Osteogenesis imperfecta type IV (disorder) 0.483257302 20 9 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Ehlers-Danlos syndrome, cardiac valvular form 0.36 1 4 CLINVAR_CTD_human_ORPHANET
Osteogenesis imperfecta, dominant perinatal lethal 0.242985861 23 0 BeFree_CTD_human_UNIPROT
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 0.24 0 0 CTD_human_ORPHANET
Osteogenesis Imperfecta 0.184706362 156 14 BeFree_CLINVAR_GAD_LHGDN
Osteoporosis 0.123724241 6 0 BeFree_CTD_human_GAD
Lobstein's Disease 0.122985861 15 0 BeFree_UNIPROT
Oral Submucous Fibrosis 0.122638474 3 0 BeFree_CTD_human_GAD
Degenerative polyarthritis 0.120271442 2 0 BeFree_CTD_human

基因相关文献

基因相关文献

Comparative analysis of horsetail and lavender-derived nanovesicles in wound healing and antioxidant defense.
Aşık S, Okay A, Karaca B, Derkuş B, Eylem CC, Nemutlu E, Aras ES, Büyük İ BMC Biotechnol IF: 2.415 2026-03-28
Impaired bone matrix turnover with selective small bone fragility in a child with TENT5A-associated osteogenesis imperfecta.
Guo A, Tillotson C, Sena C, Muthukumar A, Pantrangi M, Ganapathi M, Gewartowska O, Krawczyk PS, Thaker VV, Semenova E JBMR Plus 2026-04-00
Severe osteogenesis imperfecta due to homozygous glycine substitutions in COL1A1 and COL1A2.
Blaschitz A, Montero-Lopez R, El-Sobky TA, Baraka MM, Abdulhady H, Dawoud H, Mobarak A, El-Sayed MMH, Hammad ME, Webersinke G, Malli T, Högler W Eur J Endocrinol IF: 6.7 2026-04-06
Establishing an experimental model approach to thermal-induced spinal cord injury in mice.
Mashima A, Yokota K, Kobayakawa K, Saiwai H, Kitade K, Kishikawa J, Sugano M, Sasaguri S, Tarukado K, Kawaguchi K, Ono G, Maeda T, Nakashima Y Front Cell Neurosci IF: 4.555 None
Molecular and clinical findings in Osteogenesis Imperfecta: A cohort study from a single tertiary center.
Ozer E, Kilic E, Turan HM, Altan M, Topcu V, Turhan B, Bitkay A, Kocaay P, Boyraz M, Gurbuz F North Clin Istanb None
Reversing ABCB1-Mediated Multidrug Resistance in Colorectal Cancer: electroacupuncture shows therapeutic potential in vivo.
Qiu Y, Fan Z, Qi X, Jiang H, Zhao W, Wan Y, Huang J J Pharmacopuncture IF: 1.5 2026-03-31
Reciprocal macrophage-MSC crosstalk drives immunomodulatory and regenerative phenotypes in a mineralized collagen scaffold.
Kolliopoulos V, Polanek M, Gamage HEV, Ling MWY, Tiffany A, Nelson ER, Spiller KL, Harley BAC bioRxiv 2026-03-12
THOC6 deficiency leads to cardiomyopathy by reducing myocardial contractile proteins in cardiomyocytes.
Yuan W, Jiang Z, Li F, Chen H, Zhang X, Fan X Exp Cell Res IF: 3.5 2026-06-15

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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