COL5A3 (collagen type V alpha 3 chain)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 50509
• Gene name: Collagen type V alpha 3 chain
• Gene symbol: COL5A3
• Synonyms (NCBI Gene): -
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: 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 appea

miRNA Show/Hide all (82)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005822	hsa-miR-204-5p	Microarray	21282569
MIRT000098	hsa-miR-29b-3p	Luciferase reporter assay	23478036
MIRT724417	hsa-miR-9500	HITS-CLIP	19536157
MIRT724416	hsa-miR-2114-5p	HITS-CLIP	19536157
MIRT724415	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT724414	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT724413	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT724412	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT724411	hsa-miR-3137	HITS-CLIP	19536157
MIRT724410	hsa-miR-20b-3p	HITS-CLIP	19536157
MIRT724409	hsa-miR-6723-5p	HITS-CLIP	19536157
MIRT724408	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT440915	hsa-miR-323a-5p	HITS-CLIP	24374217
MIRT440915	hsa-miR-323a-5p	HITS-CLIP	24374217
MIRT724417	hsa-miR-9500	HITS-CLIP	19536157
MIRT724416	hsa-miR-2114-5p	HITS-CLIP	19536157
MIRT724415	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT724414	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT724413	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT724412	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT724411	hsa-miR-3137	HITS-CLIP	19536157
MIRT724410	hsa-miR-20b-3p	HITS-CLIP	19536157
MIRT724409	hsa-miR-6723-5p	HITS-CLIP	19536157
MIRT724408	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT903100	hsa-miR-1256	CLIP-seq
MIRT903101	hsa-miR-1273f	CLIP-seq
MIRT903102	hsa-miR-1275	CLIP-seq
MIRT903103	hsa-miR-1283	CLIP-seq
MIRT903104	hsa-miR-143	CLIP-seq
MIRT903105	hsa-miR-204	CLIP-seq
MIRT903106	hsa-miR-211	CLIP-seq
MIRT903107	hsa-miR-3119	CLIP-seq
MIRT903108	hsa-miR-3140-3p	CLIP-seq
MIRT903109	hsa-miR-4328	CLIP-seq
MIRT903110	hsa-miR-4330	CLIP-seq
MIRT903111	hsa-miR-4446-5p	CLIP-seq
MIRT903112	hsa-miR-4447	CLIP-seq
MIRT903113	hsa-miR-4472	CLIP-seq
MIRT903114	hsa-miR-4651	CLIP-seq
MIRT903115	hsa-miR-4652-5p	CLIP-seq
MIRT903116	hsa-miR-4665-5p	CLIP-seq
MIRT903117	hsa-miR-4708-5p	CLIP-seq
MIRT903118	hsa-miR-4755-5p	CLIP-seq
MIRT903119	hsa-miR-4770	CLIP-seq
MIRT903120	hsa-miR-608	CLIP-seq
MIRT903121	hsa-miR-623	CLIP-seq
MIRT1547251	hsa-miR-4728-5p	CLIP-seq
MIRT2203623	hsa-miR-3065-3p	CLIP-seq
MIRT2203624	hsa-miR-361-3p	CLIP-seq
MIRT2203625	hsa-miR-3620	CLIP-seq
MIRT2203626	hsa-miR-3978	CLIP-seq
MIRT2203627	hsa-miR-4308	CLIP-seq
MIRT2203628	hsa-miR-4428	CLIP-seq
MIRT2203629	hsa-miR-4434	CLIP-seq
MIRT903112	hsa-miR-4447	CLIP-seq
MIRT903113	hsa-miR-4472	CLIP-seq
MIRT2203630	hsa-miR-4516	CLIP-seq
MIRT903114	hsa-miR-4651	CLIP-seq
MIRT903120	hsa-miR-608	CLIP-seq
MIRT2203631	hsa-miR-875-3p	CLIP-seq
MIRT2386347	hsa-miR-642a	CLIP-seq
MIRT2427785	hsa-miR-1206	CLIP-seq
MIRT2427786	hsa-miR-3921	CLIP-seq
MIRT2427787	hsa-miR-4424	CLIP-seq
MIRT2427788	hsa-miR-4653-5p	CLIP-seq
MIRT2427789	hsa-miR-4682	CLIP-seq
MIRT2506685	hsa-miR-1276	CLIP-seq
MIRT2506686	hsa-miR-1321	CLIP-seq
MIRT2506687	hsa-miR-3175	CLIP-seq
MIRT2506688	hsa-miR-4419a	CLIP-seq
MIRT2506689	hsa-miR-4510	CLIP-seq
MIRT1547251	hsa-miR-4728-5p	CLIP-seq
MIRT2506690	hsa-miR-4739	CLIP-seq
MIRT2506691	hsa-miR-4756-5p	CLIP-seq
MIRT2506685	hsa-miR-1276	CLIP-seq
MIRT2506686	hsa-miR-1321	CLIP-seq
MIRT2506687	hsa-miR-3175	CLIP-seq
MIRT2506688	hsa-miR-4419a	CLIP-seq
MIRT2506689	hsa-miR-4510	CLIP-seq
MIRT1547251	hsa-miR-4728-5p	CLIP-seq
MIRT2506690	hsa-miR-4739	CLIP-seq
MIRT2506691	hsa-miR-4756-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	NAS	10722718
GO:0005518	Function	Collagen binding	NAS	10722718
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005588	Component	Collagen type V trimer	IEA
GO:0005588	Component	Collagen type V trimer	NAS	1571108, 10722718, 37158802
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	27559042, 28675934
GO:0030199	Process	Collagen fibril organization	NAS	10722718, 37158802
GO:0031012	Component	Extracellular matrix	HDA	27559042, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0043394	Function	Proteoglycan binding	IEA
GO:0043588	Process	Skin development	NAS	10722718

Other IDs

• MIM: 120216
• HGNC: 14864
• e!Ensembl: ENSG00000080573

Protein

• UniProt ID: P25940
• Protein name: Collagen alpha-3(V) chain
• Protein function: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	476 → 539	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1430 → 1492	Collagen triple helix repeat (20 copies)	Repeat
  PF01410	COLFI	1512 → 1743	Fibrillar collagen C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in fibroblasts (at protein level) (PubMed:36213313). Detected in urine (at protein level) (PubMed:37453717). {ECO:0000269|PubMed:36213313, ECO:0000269|PubMed:37453717}.
• Sequence:

  MGNRRDLGQPRAGLCLLLAALQLLPGTQADPVDVLKALGVQGGQAGVPEGPGFCPQRTPE
  GDRAFRIGQASTLGIPTWELFPEGHFPENFSLLITLRGQPANQSVLLSIYDERGARQLGL
  ALGPALGLLGDPFRPLPQQVNLTDGRWHRVAVSIDGEMVTLVADCEAQPPVLGHGPRFIS
  IAGLTVLGTQDLGEKTFEGDIQELLISPDPQAAFQACERYLPDCDNLAPAATVAPQGEPE
  TPRPRRKGKGKGRKKGRGRKGKGRKKNKEIWTSSPPPDSAENQTSTDIPKTETPAPNLPP
  TPTPLVVTSTVTTGLNATILERSLDPDSGTELGTLETKAAREDEEGDDSTMGPDFRAAEY
  PSRTQFQIFPGAGEKGAKGEPAVIEKGQQFEGPPGAPGPQGVVGPSGPPGPPGFPGDPGP
  PGPAGLPGIPGIDGIRGPPGTVIMMPFQFAGGSFKGPPVSFQQAQAQAVLQQTQLSMKGP
  PGPVGLTGRPGPVGLPGHPGLKGEEGAEGPQGPRGLQGPHGPPGRVGKMGRPGADGARGL
  PGDTGPKGDRGFDGLPGLPGEKGQRGDFGHVGQPGPPGEDGERGAEGPPGPTGQAGEPGP
  RGLLGPRGSPGPTGRPGVTGIDGAPGAKGNVGPPGEPGPPGQQGNHGSQGLPGPQGLIGT
  PGEKGPPGNPGIPGLPGSDGPLGHPGHEGPTGEKGAQGPPGSAGPPGYPGPRGVKGTSGN
  RGLQGEKGEKGEDGFPGFKGDVGLKGDQGKPGAPGPRGEDGPEGPKGQAGQAGEEGPPGS
  AGEKGKLGVPGLPGYPGRPGPKGSIGFPGPLGPIGEKGKSGKTGQPGLEGERGPPGSRGE
  RGQPGATGQPGPKGDVGQDGAPGIPGEKGLPGLQGPPGFPGPKGPPGHQGKDGRPGHPGQ
  RGELGFQGQTGPPGPAGVLGPQGKTGEVGPLGERGPPGPPGPPGEQGLPGLEGREGAKGE
  LGPPGPLGKEGPAGLRGFPGPKGGPGDPGPTGLKGDKGPPGPVGANGSPGERGPLGPAGG
  IGLPGQSGSEGPVGPAGKKGSRGERGPPGPTGKDGIPGPLGPLGPPGAAGPSGEEGDKGD
  VGAPGHKGSKGDKGDAGPPGQPGIRGPAGHPGPPGADGAQGRRGPPGLFGQKGDDGVRGF
  VGVIGPPGLQGLPGPPGEKGEVGDVGSMGPHGAPGPRGPQGPTGSEGTPGLPGGVGQPGA
  VGEKGERGDAGDPGPPGAPGIPGPKGDIGEKGDSGPSGAAGPPGKKGPPGEDGAKGSVGP
  TGLPGDLGPPGDPGVSGIDGSPGEKGDPGDVGGPGPPGASGEPGAPGPPGKRGPSGHMGR
  EGREGEKGAKGEPGPDGPPGRTGPMGARGPPGRVGPEGLRGIPGPVGEPGLLGAPGQMGP
  PGPLGPSGLPGLKGDTGPKGEKGHIGLIGLIGPPGEAGEKGDQGLPGVQGPPGPKGDPGP
  PGPIGSLGHPGPPGVAGPLGQKGSKGSPGSMGPRGDTGPAGPPGPPGAPAELHGLRRRRR
  FVPVPLPVVEGGLEEVLASLTSLSLELEQLRRPPGTAERPGLVCHELHRNHPHLPDGEYW
  IDPNQGCARDSFRVFCNFTAGGETCLYPDKKFEIVKLASWSKEKPGGWYSTFRRGKKFSY
  VDADGSPVNVVQLNFLKLLSATARQNFTYSCQNAAAWLDEATGDYSHSARFLGTNGEELS
  FNQTTAATVSVPQDGCRLRKGQTKTLFEFSSSRAGFLPLWDVAATDFGQTNQKFGFELGP
  VCFSS

• Sequence length: 1745

Pathways

KEGG Pathway	Reactome Pathway
Cytoskeleton in muscle cells	Collagen degradation
Protein digestion and absorption	Extracellular matrix organization
	Collagen biosynthesis and modifying enzymes
	Signaling by PDGF
	Assembly of collagen fibrils and other multimeric structures
	Integrin cell surface interactions
	Non-integrin membrane-ECM interactions
	ECM proteoglycans
	NCAM1 interactions
	MET activates PTK2 signaling
	Collagen chain trimerization

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Keratoconus	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATIC NEOPLASMS	—	CTD	29610475	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (7)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	34541602	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29168291		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	10722718		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33450964	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35450397	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

COL5A1 1 shared diseaseKeratoconus 13 shared pathwaysCytoskeleton in muscle cells, Protein digestion and absorption, MET activates PTK2 signaling, Collagen biosynthesis and modifying enzymes, Collagen degradation, Extracellular matrix organization, Assembly of collagen fibrils and other multimeric structures, Integrin cell surface interactions, Non-integrin membrane-ECM interactions, ECM proteoglycans, Collagen chain trimerization, Signaling by PDGF +1 more Related via 13 shared pathways including Cytoskeleton in muscle cells, Protein digestion and absorption. COL5A2 1 shared diseaseKeratoconus 13 shared pathwaysCytoskeleton in muscle cells, Protein digestion and absorption, MET activates PTK2 signaling, Collagen biosynthesis and modifying enzymes, Collagen degradation, Extracellular matrix organization, Assembly of collagen fibrils and other multimeric structures, Integrin cell surface interactions, Non-integrin membrane-ECM interactions, ECM proteoglycans, Collagen chain trimerization, Signaling by PDGF +1 more 1 shared evidence sourceDisgenet (Keratoconus) Related via 13 shared pathways including Cytoskeleton in muscle cells, Protein digestion and absorption — evidence mostly Disgenet. COL2A1 12 shared pathwaysProtein digestion and absorption, MET activates PTK2 signaling, Collagen biosynthesis and modifying enzymes, Collagen degradation, Extracellular matrix organization, Assembly of collagen fibrils and other multimeric structures, Integrin cell surface interactions, Non-integrin membrane-ECM interactions, ECM proteoglycans, Collagen chain trimerization, Signaling by PDGF, NCAM1 interactions Related via 12 shared pathways including Protein digestion and absorption, MET activates PTK2 signaling. COL3A1 13 shared pathwaysCytoskeleton in muscle cells, Protein digestion and absorption, MET activates PTK2 signaling, Collagen biosynthesis and modifying enzymes, Collagen degradation, Extracellular matrix organization, Assembly of collagen fibrils and other multimeric structures, Integrin cell surface interactions, Non-integrin membrane-ECM interactions, ECM proteoglycans, Collagen chain trimerization, Signaling by PDGF +1 more Related via 13 shared pathways including Cytoskeleton in muscle cells, Protein digestion and absorption. COL6A1 1 shared diseaseKeratoconus 10 shared pathwaysCytoskeleton in muscle cells, Protein digestion and absorption, Collagen biosynthesis and modifying enzymes, Collagen degradation, Assembly of collagen fibrils and other multimeric structures, Integrin cell surface interactions, ECM proteoglycans, Collagen chain trimerization, Signaling by PDGF, NCAM1 interactions Related via 10 shared pathways including Cytoskeleton in muscle cells, Protein digestion and absorption.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COL5A1	1	["Keratoconus"]	13	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Collagen degradation","Extracellular matrix organization","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","Non-integrin membrane-ECM interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF"]	0	[]
COL5A2	1	["Keratoconus"]	13	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Collagen degradation","Extracellular matrix organization","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","Non-integrin membrane-ECM interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF"]	1	["Disgenet (Keratoconus)"]
COL2A1	0	[]	12	["Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Collagen degradation","Extracellular matrix organization","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","Non-integrin membrane-ECM interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF","NCAM1 interactions"]	0	[]
COL3A1	0	[]	13	["Cytoskeleton in muscle cells","Protein digestion and absorption","MET activates PTK2 signaling","Collagen biosynthesis and modifying enzymes","Collagen degradation","Extracellular matrix organization","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","Non-integrin membrane-ECM interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF"]	0	[]
COL6A1	1	["Keratoconus"]	10	["Cytoskeleton in muscle cells","Protein digestion and absorption","Collagen biosynthesis and modifying enzymes","Collagen degradation","Assembly of collagen fibrils and other multimeric structures","Integrin cell surface interactions","ECM proteoglycans","Collagen chain trimerization","Signaling by PDGF","NCAM1 interactions"]	0	[]

Diseases Linked via Similar Genes

Connective tissue disease Linked via 4 of 5 related genesCOL5A1, COL5A2, COL2A1, COL3A1 Marfan syndrome Linked via 4 of 5 related genesCOL5A1, COL5A2, COL2A1, COL3A1 Ehlers-danlos syndrome Linked via 3 of 5 related genesCOL5A1, COL5A2, COL3A1 Thoracic aortic aneurysm and aortic dissection Linked via 3 of 5 related genesCOL5A1, COL5A2, COL3A1 Loeys-dietz syndrome Linked via 3 of 5 related genesCOL5A1, COL5A2, COL3A1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Connective tissue disease	4	["COL5A1","COL5A2","COL2A1","COL3A1"]
Marfan syndrome	4	["COL5A1","COL5A2","COL2A1","COL3A1"]
Ehlers-danlos syndrome	3	["COL5A1","COL5A2","COL3A1"]
Thoracic aortic aneurysm and aortic dissection	3	["COL5A1","COL5A2","COL3A1"]
Loeys-dietz syndrome	3	["COL5A1","COL5A2","COL3A1"]