Endometriosis Knowledgebase

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Gene id

1290

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

COL5A2 Gene UCSC Ensembl

Aliases

EDSC

Gene name

collagen type V alpha 2 chain

Alternate names

collagen alpha-2(V) chain, AB collagen, collagen, fetal membrane, A polypeptide, type V preprocollagen alpha 2 chain,

Gene location

2q32.2 (189225300: 189031914) Exons: 55 NC_000002.12

Gene summary(Entrez)

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]

OMIM

120190

Protein Summary

Protein general information

P05997

Name: Collagen alpha 2(V) chain

Length: 1499 Mass: 144,910

Sequence

MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNGQMYLNRDIWKPAPCQICVCDNGAILCDKIE
CQDVLDCADPVTPPGECCPVCSQTPGGGNTNFGRGRKGQKGEPGLVPVVTGIRGRPGPAGPPGSQGPRGERGPKG
RPGPRGPQGIDGEPGVPGQPGAPGPPGHPSHPGPDGLSRPFSAQMAGLDEKSGLGSQVGLMPGSVGPVGPRGPQG
LQGQQGGAGPTGPPGEPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPGEVGFAGSPGARGFPGAPGLPGLKG
HRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGPLGPRGMPGERGRLGPQGAPGQRGAHGMPGKPGPMGPLGIPG
SSGFPGNPGMKGEAGPTGARGPEGPQGQRGETGPPGPVGSPGLPGAIGTDGTPGAKGPTGSPGTSGPPGSAGPPG
SPGPQGSTGPQGIRGQPGDPGVPGFKGEAGPKGEPGPHGIQGPIGPPGEEGKRGPRGDPGTVGPPGPVGERGAPG
NRGFPGSDGLPGPKGAQGERGPVGSSGPKGSQGDPGRPGEPGLPGARGLTGNPGVQGPEGKLGPLGAPGEDGRPG
PPGSIGIRGQPGSMGLPGPKGSSGDPGKPGEAGNAGVPGQRGAPGKDGEVGPSGPVGPPGLAGERGEQGPPGPTG
FQGLPGPPGPPGEGGKPGDQGVPGDPGAVGPLGPRGERGNPGERGEPGITGLPGEKGMAGGHGPDGPKGSPGPSG
TPGDTGPPGLQGMPGERGIAGTPGPKGDRGGIGEKGAEGTAGNDGARGLPGPLGPPGPAGPTGEKGEPGPRGLVG
PPGSRGNPGSRGENGPTGAVGFAGPQGPDGQPGVKGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRG
TQGPPGATGFPGSAGRVGPPGPAGAPGPAGPLGEPGKEGPPGLRGDPGSHGRVGDRGPAGPPGGPGDKGDPGEDG
QPGPDGPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVGPTGATGDKGPPGPVGPPGSNGPVGEPGPEG
PAGNDGTPGRDGAVGERGDRGDPGPAGLPGSQGAPGTPGPVGAPGDAGQRGDPGSRGPIGPPGRAGKRGLPGPQG
PRGDKGDHGDRGDRGQKGHRGFTGLQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVGPSGKEGNPGPLGPIGPPG
VRGSVGEAGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDDKNKTDPGVHATLKSL
SSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSVEDAIKVYCNMETGETCISANPSSVPRKTWW
ASKSPDNKPVWYGLDMNRGSQFAYGDHQSPNTAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVL
KGANDLDIKAEGNIRFRYIVLQDTCSKRNGNVGKTVFEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVCFV

Structural information

Protein Domains	VWFC. (39-97) Fibrillar (1266-1499)
Motifs	Cell attachment(506-508) Cell attachment(944-946) Cell attachment(1067-1069) Cell attachment(1070-1072) Cell attachment(1100-1102)
Interpro:	IPR008160 IPR000885 IPR014716 IPR001007
Prosite:	PS51461 PS01208 PS50184
Pfam:	PF01410 PF01391 PF00093
PDB:	1A9A
PDBsum:	1A9A
STRING:	ENSP00000364000;

Other Databases

GeneCards: COL5A2; Malacards: COL5A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system developme nt	IEA	biological_process
GO:0001503	ossification	IEA	biological_process
GO:0003674	molecular_function	ND	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	IEA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005588	collagen type V trimer	IMP	cellular_component
GO:0005588	collagen type V trimer	IMP	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030199	collagen fibril organizat ion	ISS	biological_process
GO:0030199	collagen fibril organizat ion	IMP	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0031012	extracellular matrix	NAS	cellular_component
GO:0043588	skin development	ISS	biological_process
GO:0043588	skin development	IMP	biological_process
GO:0046332	SMAD binding	IEA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048592	eye morphogenesis	IMP	biological_process
GO:0071230	cellular response to amin o acid stimulus	IEA	biological_process
GO:1903225	negative regulation of en dodermal cell differentia tion	IDA	biological_process
GO:0001501	skeletal system developme nt	IEA	biological_process
GO:0001503	ossification	IEA	biological_process
GO:0003674	molecular_function	ND	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	IEA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005581	collagen trimer	IEA	cellular_component
GO:0005581	collagen trimer	IEA	cellular_component
GO:0005581	collagen trimer	IEA	cellular_component
GO:0005588	collagen type V trimer	IMP	cellular_component
GO:0005588	collagen type V trimer	IMP	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030199	collagen fibril organizat ion	IEA	biological_process
GO:0030199	collagen fibril organizat ion	ISS	biological_process
GO:0030199	collagen fibril organizat ion	IMP	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0031012	extracellular matrix	IEA	cellular_component
GO:0031012	extracellular matrix	NAS	cellular_component
GO:0043588	skin development	IEA	biological_process
GO:0043588	skin development	ISS	biological_process
GO:0043588	skin development	IMP	biological_process
GO:0046332	SMAD binding	IEA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048592	eye morphogenesis	IMP	biological_process
GO:0071230	cellular response to amin o acid stimulus	IEA	biological_process
GO:1903225	negative regulation of en dodermal cell differentia tion	IDA	biological_process
GO:0003674	molecular_function	ND	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005588	collagen type V trimer	IMP	cellular_component
GO:0005588	collagen type V trimer	IMP	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030199	collagen fibril organizat ion	ISS	biological_process
GO:0030199	collagen fibril organizat ion	IMP	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0031012	extracellular matrix	NAS	cellular_component
GO:0043588	skin development	ISS	biological_process
GO:0043588	skin development	IMP	biological_process
GO:0048592	eye morphogenesis	IMP	biological_process
GO:1903225	negative regulation of en dodermal cell differentia tion	IDA	biological_process

KEGG pathways

hsa04974 Protein digestion and absorption

Diseases

Associated diseases	References
Endometriosis (ovarian)	PMID: 15005245
Connective tissue diseases	PMID: 19527514
Ehlers-Danlos syndrome	OMIM: 120190,KEGG: H00802
Metabolism disorders	PMID: 14557872
Ovarian endometriosis	PMID: 15005245
Ovarian endometriosis	PMID: 15005245
Ovarian endometriosis	INFBASE15005245

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
15005245	Endometrio sis (ovari an)					FCER1G PGDS IL-8 GRO1 GRO2 CXCR4 MCP1 MMP COL4A2 and COL5A2	Show abstract