COL5A2 (collagen type V alpha 2 chain)

Gene Basic Information

Gene Basic Information

symbol:
COL5A2
locus group:
protein-coding gene
location:
2q32.2
gene_family:
Collagens
alias symbol:
None
alias name:
AB collagen
entrez id:
1290
ensembl gene id:
ENSG00000204262
ucsc gene id:
uc002uqk.4
refseq accession:
NM_000393
hgnc_id:
HGNC:2210
approved reserved:
2001-06-22

Chromosome Location

Chromosome Location

2q32.2

Gene Summary

Gene Summary

COL5A2基因编码胶原蛋白V型α2链，属于胶原蛋白基因家族。胶原蛋白家族是细胞外基质的主要成分，为组织提供结构支持和机械强度。COL5A2与COL5A1共同形成V型胶原蛋白，这种胶原蛋白在调节I型胶原纤维的直径和排列中起关键作用，尤其在皮肤、肌腱、角膜和骨骼等组织中含量丰富。V型胶原蛋白的异常会影响I型胶原纤维的形成，导致组织脆弱。COL5A2基因突变与埃勒斯-当洛斯综合征（EDS）经典型和关节过度活动型相关，这些疾病表现为皮肤过度伸展、关节活动过度和组织脆弱。突变可能导致胶原蛋白合成减少或结构异常，削弱组织的机械强度。COL5A2过表达可能干扰胶原纤维的正常组装，导致纤维直径不均和组织功能异常；而表达降低会减少V型胶原蛋白的可用性，影响I型胶原纤维的形成，可能导致组织脆弱和EDS样症状。COL5A2在伤口愈合、组织发育和修复中也发挥作用，其表达水平变化可能影响这些过程。该基因与COL5A1、COL5A3同属V型胶原蛋白基因家族，家族成员共同参与形成异源三聚体胶原蛋白分子，在维持组织结构和功能中起协同作用。

ChineseEnglish

该基因编码的低丰度纤维胶原蛋白之一的α链。纤维状胶原分子是可以由一种或多种类型的α链组成的三聚体。 V型胶原蛋白含I型胶原组织中发现，似乎调控I型和V型胶原组成的异型纤维集合体。该基因产物是密切相关的XI型胶原蛋白和它是可能的类型V和XI的胶原链构成单一型胶原与组织特异性链的组合。在这种基因突变与埃 - 当洛综合征，I型和II有关。 [由RefSeq的，2008年7月提供]

OMIM entry for COL5A2     Wikipedia entry for COL5A2

Gene Sequence

Gene Sequence

Nucleotide sequence of COL5A2:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MMANWAEARP LLILIVLLGQ FVSIKAQEED EDEGYGEEIA
41CTQNGQMYLN RDIWKPAPCQ ICVCDNGAIL CDKIECQDVL
81 DCADPVTPP GECCPVCSQT PGGGNTNFGR GRKGQKGEPG
121LVPVVTGIRG RPGPAGPPGS QGPRGERGPK GRPGPRGPQG
161I DGEPGVPG QPGAPGPPGH PSHPGPDGLS RPFSAQMAGL
201DEKSGLGSQV GLMPGSVGPV GPRGPQGLQG QQGGAGPTGP
241PG EPGDPGP MGPIGSRGPE GPPGKPGEDG EPGRNGNPGE
281VGFAGSPGAR GFPGAPGLPG LKGHRGHKGL EGPKGEVGAP
321GSK GEAGPT GPMGAMGPLG PRGMPGERGR LGPQGAPGQR
361GAHGMPGKPG PMGPLGIPGS SGFPGNPGMK GEAGPTGARG
401PEGP QGQRG ETGPPGPVGS PGLPGAIGTD GTPGAKGPTG
441SPGTSGPPGS AGPPGSPGPQ GSTGPQGIRG QPGDPGVPGF
481KGEAG PKGE PGPHGIQGPI GPPGEEGKRG PRGDPGTVGP
521PGPVGERGAP GNRGFPGSDG LPGPKGAQGE RGPVGSSGPK
561GSQGDP GRP GEPGLPGARG LTGNPGVQGP EGKLGPLGAP
601GEDGRPGPPG SIGIRGQPGS MGLPGPKGSS GDPGKPGEAG
641NAGVPGQ RG APGKDGEVGP SGPVGPPGLA GERGEQGPPG
681PTGFQGLPGP PGPPGEGGKP GDQGVPGDPG AVGPLGPRGE
721RGNPGERG E PGITGLPGEK GMAGGHGPDG PKGSPGPSGT
761PGDTGPPGLQ GMPGERGIAG TPGPKGDRGG IGEKGAEGTA
801GNDGARGLP GPLGPPGPAG PTGEKGEPGP RGLVGPPGSR
841GNPGSRGENG PTGAVGFAGP QGPDGQPGVK GEPGEPGQKG
881DAGSPGPQGL AGSPGPHGP NGVPGLKGGR GTQGPPGATG
921FPGSAGRVGP PGPAGAPGPA GPLGEPGKEG PPGLRGDPGS
961HGRVGDRGPA G PPGGPGDK GDPGEDGQPG PDGPPGPAGT
1001TGQRGIVGMP GQRGERGMPG LPGPAGTPGK VGPTGATGDK
1041GPPGPVGPPG SN GPVGEPG PEGPAGNDGT PGRDGAVGER
1081GDRGDPGPAG LPGSQGAPGT PGPVGAPGDA GQRGDPGSRG
1121PIGPPGRAGK RGL PGPQGP RGDKGDHGDR GDRGQKGHRG
1161FTGLQGLPGP PGPNGEQGSA GIPGPFGPRG PPGPVGPSGK
1201EGNPGPLGPI GPPG VRGSV GEAGPEGPPG EPGPPGPPGP
1241PGHLTAALGD IMGHYDESMP DPLPEFTEDQ AAPDDKNKTD
1281PGVHATLKSL SSQIE TMRS PDGSKKHPAR TCDDLKLCHS
1321AKQSGEYWID PNQGSVEDAI KVYCNMETGE TCISANPSSV
1361PRKTWWASKS PDNKPV WYG LDMNRGSQFA YGDHQSPNTA
1401ITQMTFLRLL SKEASQNITY ICKNSVGYMD DQAKNLKKAV
1441VLKGANDLDI KAEGNIR FR YIVLQDTCSK RNGNVGKTVF
1481EYRTQNVARL PIIDLAPVDV GGTDQEFGVE IGPVCFV
结构预测来自 AlphaFold DB（UniProt: P05997），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of COL5A2:           Showing partial SNPs
rs7586       rs11186       rs12886       rs13914       rs15930       rs939160       rs1016622       rs1131429       rs1131518       rs1356160       rs1356161       rs1356162       rs1356163       rs1356164       rs1356165       rs1356166       rs1356167      

Gene Expression

Gene Expression

Tissue expression of COL5A2:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
TTAGGACCTAGAGGAGAACGA
59
CATTCCCTTCTCACCAGGG
60
GTGGGCCAGTAAATCTCCT
59
TCTCCATAAGCGAACTGAGAC
60
GGAGAAGCAGGTCCTACAG
59
TATTGCACCAGGAAGACCT
58
TTAGGACCTAGAGGAGAACGA
59
CATTCCCTTCTCACCAGGG
60
GAGAAGCAGGTCCTACAGG
59
TATTGCACCAGGAAGACCTG
60
TGGTGGGCCAGTAAATCTC
59
TCCATAAGCGAACTGAGACC
60
TAGGACCTAGAGGAGAACGAG
60
CCATTCCCTTCTCACCAGG
60
TAGGACCTAGAGGAGAACGAG
60
CCATTCCCTTCTCACCAGG
60
GAGAAGCAGGTCCTACAGG
59
TATTGCACCAGGAAGACCT
58
GAAACGTGGATTACCTGGAC
59
CCCTTCTGACCTCTGTCAC
59

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of COL5A2 (and its protein):

[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

Gene Ontology (GO) terms for COL5A2:

GO ID
Protein
Source DB
GO:0005201
A0A087WYX9 (UniProtKB)
IEA
GO:0005578
A0A087WYX9 (UniProtKB)
IEA
GO:0005581
A0A087WYX9 (UniProtKB)
IEA
GO:0001501
P05997 (UniProtKB)
IEA
GO:0001503
P05997 (UniProtKB)
IEA
GO:0003674
P05997 (UniProtKB)
ND
GO:0005201
P05997 (UniProtKB)
IEA
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005576
P05997 (UniProtKB)
TAS
GO:0005588
P05997 (UniProtKB)
IMP
GO:0005588
P05997 (UniProtKB)
IMP
GO:0005788
P05997 (UniProtKB)
TAS
GO:0005788
P05997 (UniProtKB)
TAS
GO:0005788
P05997 (UniProtKB)
TAS
GO:0030198
P05997 (UniProtKB)
TAS
GO:0030199
P05997 (UniProtKB)
ISS
GO:0030199
P05997 (UniProtKB)
IMP
GO:0030574
P05997 (UniProtKB)
TAS
GO:0031012
P05997 (UniProtKB)
NAS
GO:0043588
P05997 (UniProtKB)
ISS
GO:0043588
P05997 (UniProtKB)
IMP
GO:0046332
P05997 (UniProtKB)
IEA
GO:0046872
P05997 (UniProtKB)
IEA
GO:0048592
P05997 (UniProtKB)
IMP
GO:0071230
P05997 (UniProtKB)
IEA
GO:1903225
P05997 (UniProtKB)
IDA

Related microRNA

Related microRNA

microRNAs potentially regulating COL5A2:     

Gene Interactions

Gene Interactions

String
IntAct
mentha
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Ehlers-Danlos syndrome type 1 0.480271442 2 4 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Ehlers-Danlos syndrome type 2 0.120271442 1 0 BeFree_ORPHANET
Spontaneous abortion 0.12 1 0 CTD_human
Premature Birth 0.009468128 4 0 GAD
Inflammation 0.004734064 2 0 GAD
Vertebral Artery Dissection 0.00272435 1 0 LHGDN
Ehlers-Danlos Syndrome 0.002714419 10 0 BeFree
Fetal Membranes, Premature Rupture 0.002367032 1 0 GAD
Dermatologic disorders 0.002367032 1 0 GAD
Premature Obstetric Labor 0.002367032 1 0 GAD

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