Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL5A3 Gene

protein-coding GIFtS: 54
GCID: GC19M010071

collagen, type V, alpha 3

Explore 3 diseases affiliated with
COL5A3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Collagen, Type V, Alpha 3¹ ²
Collagen Alpha-3(V) Chain²
Pro-(Alpha)3(V) Collagen²

External Ids:	HGNC: 14864¹	Entrez Gene: 50509²	Ensembl: ENSG00000080573⁷	OMIM: 120216⁵	UniProtKB: P25940³

Export aliases for COL5A3 gene to outside databases

Previous GC identifers: GC19M010191 GC19M010293 GC19M009916 GC19M009931 GC19M009650

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COL5A3:

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 thought to be

responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes

can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages.

(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CO5A3_HUMAN, P25940

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

Gene Wiki entry for COL5A3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL5A3 gene promoter:
Bach1 AML1a Sp1 Bach2 NRSF form 1 NRSF form 2 HEN1 ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL5A3 promoter sequence

Search SABiosciences Chromatin IP Primers for COL5A3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL5A3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13.2

COL5A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL5A3 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M010071: view genomic region (about GC identifiers)

Start:	10,070,237 bp from pter	End:	10,121,147 bp from pter
Size:	50,911 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CO5A3_HUMAN, P25940 (See protein sequence)

Recommended Name: Collagen alpha-3(V) chain precursor

Size: 1745 amino acids; 172121 Da

Subunit: Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha

2(V), and one alpha 3(V) chains in placenta

Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)

Secondary accessions: Q9NZQ6

Explore the universe of human proteins at neXtProt for COL5A3: NX_P25940

Post-translational modifications:

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P25940

COL5A3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_056534.2

ENSEMBL proteins:

ENSP00000264828

Reactome Protein details: P25940
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for COL5A3
	GenScript Custom Purified and Recombinant Proteins Services for COL5A3
	Novus Biologicals COL5A3 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005588	collagen type V	NAS	10722718
GO:0005788	endoplasmic reticulum lumen	TAS	--

COL5A3 for ontologies About GeneDecksing

COL5A3 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for COL5A3
	GenScript Custom Superior Antibodies Services for COL5A3
	Novus Biologicals COL5A3 Antibodies
	Search for Antibodies for COL5A3 at Abcam
	Browse Antibodies at Uscn
	Search ThermoFisher Antibodies for COL5A3

Assay Products for COL5A3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for COL5A3
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

COL5A3 for domains About GeneDecksing

5 InterPro domains/families:

IPR013320 ConA-like_subgrp

IPR001791 Laminin_G

IPR000885 Fib_collagen_C

IPR008160 Collagen

IPR008985 ConA-like_lec_gl_sf

Graphical View of Domain Structure for InterPro Entry P25940

ProtoNet protein and cluster: P25940

5 Blocks protein families:

IPB000885 Fibrillar collagen

IPB001791 Laminin G

IPB003129 Thrombospondin

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO5A3_HUMAN, P25940

Similarity: Belongs to the fibrillar collagen family

Similarity: Contains 6 collagen-like domains

Similarity: Contains 1 fibrillar collagen NC1 domain

Similarity: Contains 1 laminin G-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CO5A3_HUMAN, P25940

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

miRNA Products:		miRTarBase miRNAs that target COL5A3: hsa-mir-204 (MIRT005822)

		OriGene 3'-UTR Clone: COL5A3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL5A3
		8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate COL5A3 (see all 24):
		hsa-miR-642a hsa-miR-520f hsa-miR-767-5p hsa-miR-29c hsa-miR-29a hsa-miR-216b hsa-miR-3921 hsa-miR-20b*

		SwitchGear 3'UTR luciferase reporter plasmid: COL5A3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL5A3 (see all 7) OriGene shRNA RFP: COL5A3 OriGene siRNA: COL5A3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL5A3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for COL5A3

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL5A3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL5A3 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: COL5A3 (NM_015719)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL5A3
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL5A3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for COL5A3
		Search LifeMap BioReagents cell lines for COL5A3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL5A3

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	NAS	10722718
GO:0005518	collagen binding	NAS	10722718
GO:0008201	heparin binding	IEA	--
GO:0043394	proteoglycan binding	IEA	--

COL5A3 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for COL5A3:

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

Synthetic lethal with c-Myc af

Animal Models:
Mouse knock-out Col5a3^tm1Dgr for COL5A3
8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Col5a3):

adipose tissue	behavior/neurological	cellular	endocrine/exocrine gland	growth/size
homeostasis/metabolism	integument	muscle

COL5A3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Collagen formation

Collagen formation	1.00	Extracellular matrix organization	0.54
Collagen biosynthesis and modifying enzymes	0.74	Secretion of collagens	0.49
Assembly of collagen fibrils and other multimeric structures	0.65

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

NCAM signaling for neurite out-growth

NCAM signaling for neurite out-growth

1.00

NCAM1 interactions

0.62

Degradation of the extracellular matrix

Degradation of the extracellular matrix

1.00

Degradation of collagen

0.79

Pathway sources
See GeneCards unified pathways
Show all pathways

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL5A3 (see all 15)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	Transendothelial Migration of Leukocytes
	UPA-UPAR Pathway

1 BioSystems Pathway for COL5A3

Focal Adhesion

5/15 Reactome Pathways for COL5A3 (see all 15)

	Developmental Biology
	Formation of collagen fibrils
	Secretion of collagens
	NCAM1 interactions
	Assembly of collagen fibrils and other multimeric structures

4 Kegg Pathways (Kegg details for COL5A3):

	Focal adhesion
	ECM-receptor interaction
	Protein digestion and absorption
	Amoebiasis

COL5A3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for COL5A3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/66 Interacting proteins for COL5A3 (P25940³ ENSP00000264828⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 66)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COL5A1	P20908³, ENSP00000360882⁴	I2D: score=2 STRING: ENSP00000360882
COL1A2	P08123³, ENSP00000297268⁴	I2D: score=1 STRING: ENSP00000297268
COL10A1	ENSP00000243222⁴	STRING: ENSP00000243222
COL11A1	ENSP00000351163⁴	STRING: ENSP00000351163
COL12A1	ENSP00000325146⁴	STRING: ENSP00000325146

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007160	cell-matrix adhesion	IEA	--
GO:0030198	extracellular matrix organization	TAS	--
GO:0030199	collagen fibril organization	NAS	10722718
GO:0043588	skin development	NAS	10722718

COL5A3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL5A3
Search CenterWatch for drugs/clinical trials and news about COL5A3 / CO5A3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for COL5A3 gene:

NM_015719.3

Unigene Cluster for COL5A3:

Collagen, type V, alpha 3

Hs.235368 [show with all ESTs]

Unigene Representative Sequence: AF177941

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000264828(uc002mmq.1) ENST00000461214

miRNA Products:		OriGene 3'-UTR Clone: COL5A3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL5A3
		8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate COL5A3 (see all 24):
		hsa-miR-642a hsa-miR-520f hsa-miR-767-5p hsa-miR-29c hsa-miR-29a hsa-miR-216b hsa-miR-3921 hsa-miR-20b*

		SwitchGear 3'UTR luciferase reporter plasmid: COL5A3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL5A3 (see all 7) OriGene shRNA RFP: COL5A3 OriGene siRNA: COL5A3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL5A3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL5A3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL5A3 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: COL5A3 (NM_015719)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL5A3
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL5A3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL5A3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat COL5A3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL5A3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL5A3

Additional cDNA sequence:

AB209175.1 AF177941.1

4 DOTS entries:

DT.111540 DT.121444410 DT.99957391 DT.99938632

24/72 AceView cDNA sequences (see all 72):

AI906061 BQ575544 AA887620 CR623259 BE042923 CD627227 BE048302 BE327304

AW015044 BQ448429 BE219883 BF339095 BQ015205 CB054372 BQ006907 R49984

BQ878345 BI828870 BM704665 BM684992 AA359428 NM_015719 AW841530 BX104400

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for COL5A3 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^
SP1:
SP2:

ExUns:	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40	^	41	^	42	^	43	^	44	^	45	^	46	^	47	^	48	^	49	^	50	^	51	^	52	^
SP1:
SP2:

ExUns:	53	^	54	^	55	^	56	^	57	^	58a	·	58b	^	59	^	60	^	61a	·	61b	^	62	^	63	^	64	^	65	^	66	^	67
SP1:											-										-
SP2:

ECgene alternative splicing isoforms for COL5A3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

COL5A3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGGTGGTT

About this image

COL5A3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor F15 (Embryonic Progenitor Cell)

See COL5A3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL5A3

SOURCE GeneReport for Unigene cluster: Hs.235368

SABiosciences Expression via Pathway-Focused PCR Array including COL5A3:

Wound Healing in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL5A3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat COL5A3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL5A3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL5A3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL5A3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for COL5A3 gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	--	--	31(a)	possible ortholog	Un(29708498-29710167)
lizard (Anolis carolinensis)	Reptilia	COL5A3⁶	--	71(a)	1 ↔ 1	GL343198.1(5443524-5503809)
worm (Caenorhabditis elegans)	Secernentea	mec-5⁶	MEChanosensory abnormality family member (mec-5)	32(a)	1 → many	X(15943939-15948881)

ENSEMBL Gene Tree for COL5A3 (if available)
TreeFam Gene Tree for COL5A3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for COL5A3 gene

COL4A6² COL19A1² COL11A2² COL4A5² COL24A1² COL4A4² COL1A1² COL16A1²

COL4A2² COL5A2² COL5A1² COL4A3² COL22A1² COL7A1² COL1A2² COL27A1²

COL3A1² COL2A1² COL4A1² COL11A1²

15 SIMAP similar genes for COL5A3 using alignment to 1 protein entry: CO5A3_HUMAN:

COL11A1 COL5A1 COL11A2 COL2A1 SFTPD FCN2

COL5A2 COLQ DKFZp434L081 MARCO C1QTNF9 C1QTNF9B

COL1A2 COL3A1 COL28A1

COL5A3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141650534^1,2	C,	other	10079145(+)	`CCAATA/GAGACC`	2	L	syn¹		0	--	--	--	--
rs35751305^1,2	C,	--	9665575(+)	`AAGAG-/TTGGGT`	1	--	int¹		0	--	--	--	--
rs35938123^1,2	C	--	9697607(+)	`CTCTG-/TTTTTT`	1	--	int¹		1		NA	2
rs140010844^1,2		--	10069789(+)	`CACTCA/GAGTCC`	1	--	ds500¹		0	--	--	--	--
rs8108147^1,2	C,F,A,	--	10069821(+)	`GCCATT/GATCAT`	1	--	ds500¹		11		NA WA CSA EA	373
rs59843716^1,2		--	10069930(+)	`TTTGGA/GAGATC`	1	--	ds500¹		0	--	--	--	--
rs111978968^1,2	C,F,	--	10069934(+)	`GGAGAT/CCAAGG`	1	--	ds500¹		3		WA CSA EA	124
rs146328370^1,2		--	10069940(+)	`CAAGGC/TGGGCG`	1	--	ds500¹		0	--	--	--	--
rs117982501^1,2	F,	--	10069999(+)	`ATCCCA/GTCTCT`	1	--	ds500¹		1		NA	120
rs186310236^1,2		--	10070148(+)	`CTGGGC/TGACAG`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for COL5A3 (10070237 - 10121147 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 16 variations for COL5A3
8 CNVs: 78080 89082 89084 89081 78077 89086 5084 89083
8 Indels: 78078 45822 78081 78079 89087 26387 89085 26390

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL5A3

DNA2.0 Custom Variant and Variant Library Synthesis for COL5A3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

COL5A3 for disorders           About GeneDecksing

OMIM gene information: 120216    OMIM disorders: --

3 diseases for COL5A3:    About MalaCards

ehlers-danlos syndrome arterial tortuosity syndrome pulmonary valve stenosis

2 diseases from the University of Copenhagen DISEASES database for COL5A3:

Arterial tortuosity syndrome Ehlers-Danlos syndrome

Export disorders for COL5A3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for COL5A3 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with COL5A3)

Utopia: connect your pdf to the dynamic
world of online information

The pro-alpha3 (V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains. (PubMed id 10722718)^{1, 2, 3} Imamura Y.... Greenspan D.S. (2000)
Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing. (PubMed id 1571108)^{1, 2} Mann K. (1992)
Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)² Chen R.... Zou H. (2009)
Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome. (PubMed id 19012342)¹ Hoffman G.G....Greenspan D.S. (2008)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)² Grimwood J.... Lucas S.M. (2004)
The transcription factor CCAAT-binding factor CBF/NF-Y and two repressors regulate the core promoter of the human pro-alpha3(V) collagen gene (COL5A3). (PubMed id 15316020)¹ Nagato H....Yoshioka H. (2004)
Biosynthetic processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer. (PubMed id 15136578)¹ Gopalakrishnan B....Greenspan D.S. (2004)
Control of heterotypic fibril formation by collagen V is determined by chain stoichiometry. (PubMed id 11423559)¹ Chanut-Delalande H....Ruggiero F. (2001)
Basic fibroblast growth factor decreases type V/XI collagen expression in cultured bovine aortic smooth muscle cells. (PubMed id 9443080)¹ Kypreos K.E. and Sonenshein G.E. (1998)
Another look at collagen V and XI molecules. (PubMed id 8535602)¹ Fichard A....Ruggiero F. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 50509	HGNC: 14864	AceView: COL5A3	Ensembl:ENSG00000080573	euGenes: HUgn50509
ECgene: COL5A3	Kegg: 50509	H-InvDB: COL5A3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for COL5A3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for COL5A3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for COL5A3 gene:
Search GeneIP for patents involving COL5A3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for COL5A3
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL5A3		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL5A3
	Browse OriGene Protein Over-expression Lysates		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for COL5A3		OriGene 3'-UTR Clone for COL5A3
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL5A3		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL5A3
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for COL5A3		OriGene Custom Protein Services for COL5A3
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COL5A3
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL5A3
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL5A3
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL5A3
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL5A3
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL5A3

	GenScript Custom Purified and Recombinant Proteins Services for COL5A3		GenScript cDNA clones with any tag delivered in your preferred vector for COL5A3
	GenScript Custom Assay Services for COL5A3		GenScript Custom Superior Antibodies Services for COL5A3
	GenScript Custom overexpressing Cell Line Services for COL5A3		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in COL5A3 promoter
	Search Chromatin IP Primers for COL5A3
	RT² qPCR Primer Assay in human, mouse, rat COL5A3
	Search GNC Networks for COL5A3
	SABiosciences PCR Arrays including human, mouse, rat COL5A3

Search Tocris compounds for COL5A3

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	COL5A3 antibodies
	COL5A3 proteins

	Search for Antibodies for COL5A3 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for COL5A3
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn

Search LifeMap BioReagents cell lines for COL5A3

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL5A3

	SwitchGear 3'UTR luciferase reporter plasmids for COL5A3
	SwitchGear Promoter luciferase reporter plasmids for COL5A3

Search ThermoFisher Antibodies for COL5A3

Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL5A3

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes COL5A3 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

COL5A3 Gene

collagen, type V, alpha 3

Aliases
for COL5A3 gene

Summaries
for COL5A3 gene

Genomic Views
for COL5A3 gene

Proteins
for COL5A3 gene

Protein Domains /
Families
for COL5A3 gene

Function
for COL5A3 gene

Pathways & Interactions
for COL5A3 gene

Drugs & Compounds
for COL5A3 gene

Transcripts
for COL5A3 gene

Expression
for COL5A3 gene

Orthologs
for COL5A3 gene

Paralogs
for COL5A3 gene

Genomic Variants
for COL5A3 gene

Disorders / Diseases
for COL5A3 gene

Publications
for COL5A3 gene

External Searches for COL5A3 gene

Genome Databases showing COL5A3 gene

Other Databases showing COL5A3 gene

Specialized Databases showing COL5A3 gene

Intellectual Property
for COL5A3 gene

Products
for COL5A3 gene

View Random Gene

Advanced Search

Export list of displayed genes

COL5A3 Gene

collagen, type V, alpha 3

Aliasesfor COL5A3 gene

Summariesfor COL5A3 gene

Genomic Viewsfor COL5A3 gene

Proteinsfor COL5A3 gene

Protein Domains /Familiesfor COL5A3 gene

Functionfor COL5A3 gene

Pathways & Interactionsfor COL5A3 gene

Drugs & Compoundsfor COL5A3 gene

Transcriptsfor COL5A3 gene

Expression for COL5A3 gene

Orthologsfor COL5A3 gene

Paralogsfor COL5A3 gene

Genomic Variantsfor COL5A3 gene

Disorders / Diseasesfor COL5A3 gene

Publicationsfor COL5A3 gene

External Searches for COL5A3 gene

Genome Databases showing COL5A3 gene

Other Databases showing COL5A3 gene

Specialized Databases showing COL5A3 gene

Intellectual Propertyfor COL5A3 gene

Productsfor COL5A3 gene

View Random Gene

Aliases
for COL5A3 gene

Summaries
for COL5A3 gene

Genomic Views
for COL5A3 gene

Proteins
for COL5A3 gene

Protein Domains /
Families
for COL5A3 gene

Function
for COL5A3 gene

Pathways & Interactions
for COL5A3 gene

Drugs & Compounds
for COL5A3 gene

Transcripts
for COL5A3 gene

Expression
for COL5A3 gene

Orthologs
for COL5A3 gene

Paralogs
for COL5A3 gene

Genomic Variants
for COL5A3 gene

Disorders / Diseases
for COL5A3 gene

Publications
for COL5A3 gene

Intellectual Property
for COL5A3 gene

Products
for COL5A3 gene