COL3A1 Gene (Protein Coding)

Collagen Type III Alpha 1 Chain

GC02P188974
GIFtS:
47
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, result... See more...

Aliases for COL3A1 Gene

Aliases for COL3A1 Gene

  • Collagen Type III Alpha 1 Chain 2 3 5
  • Ehlers-Danlos Syndrome Type IV, Autosomal Dominant 2 3
  • Collagen, Type III, Alpha 1 2 3
  • Collagen Alpha-1(III) Chain 3 4
  • Alpha-1 Type III Collagen 3
  • Alpha1 (III) Collagen 3
  • Collagen, Fetal 3
  • EDSVASC 3
  • PMGEDSV 3
  • COL3A1 5
  • EDS4A 3

External Ids for COL3A1 Gene

Previous HGNC Symbols for COL3A1 Gene

  • EDS4A

Previous GeneCards Identifiers for COL3A1 Gene

  • GC02P187975
  • GC02P188522
  • GC02P189803
  • GC02P190041
  • GC02P189664
  • GC02P189547
  • GC02P181698

Summaries for COL3A1 Gene

Entrez Gene Summary for COL3A1 Gene

  • This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

GeneCards Summary for COL3A1 Gene

COL3A1 (Collagen Type III Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL3A1 include Ehlers-Danlos Syndrome, Vascular Type and Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome. Among its related pathways are Collagen chain trimerization and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include integrin binding and SMAD binding. An important paralog of this gene is COL2A1.

UniProtKB/Swiss-Prot Summary for COL3A1 Gene

  • Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.

Gene Wiki entry for COL3A1 Gene

Additional gene information for COL3A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL3A1 Gene

Genomics for COL3A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for COL3A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL3A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL3A1

Top Transcription factor binding sites by QIAGEN in the COL3A1 gene promoter:
  • Bach2
  • FOXD1
  • Hlf
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5
  • Pbx1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for COL3A1 Gene

Latest Assembly
chr2:188,974,373-189,012,746
(GRCh38/hg38)
Size:
38,374 bases
Orientation:
Plus strand

Previous Assembly
chr2:189,839,099-189,877,472
(GRCh37/hg19 by Entrez Gene)
Size:
38,374 bases
Orientation:
Plus strand

chr2:189,839,046-189,877,472
(GRCh37/hg19 by Ensembl)
Size:
38,427 bases
Orientation:
Plus strand

Genomic View for COL3A1 Gene

Genes around COL3A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL3A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL3A1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for COL3A1 Gene

Proteins for COL3A1 Gene

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  • Protein details for COL3A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02461-CO3A1_HUMAN
    Recommended name:
    Collagen alpha-1(III) chain
    Protein Accession:
    P02461
    Secondary Accessions:
    • D2JYH5
    • D3DPH4
    • P78429
    • Q15112
    • Q16403
    • Q53S91
    • Q541P8
    • Q6LDB3
    • Q6LDJ2
    • Q6LDJ3
    • Q7KZ56
    • Q8N6U4
    • Q9UC88
    • Q9UC89
    • Q9UC90
    • Q9UC91
    • R4N3C5
    • V9GZI1

    Protein attributes for COL3A1 Gene

    Size:
    1466 amino acids
    Molecular mass:
    138564 Da
    Quaternary structure:
    • Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines. Interacts with ADGRG1 (PubMed:28258187).

    Three dimensional structures from OCA and Proteopedia for COL3A1 Gene

    Alternative splice isoforms for COL3A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL3A1 Gene

Protein Expression for COL3A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for COL3A1 Gene

  • Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
  • Glycosylation at Lys263, Asn1367, and Ser1145
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CO3A1_HUMAN (1127)

Other Protein References for COL3A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for COL3A1 Gene

Domains & Families for COL3A1 Gene

Gene Families for COL3A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COL3A1 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • von Willebrand factor, type C
  • Fibrillar collagen, C-terminal

Suggested Antigen Peptide Sequences for COL3A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen alpha-1(III) chain (CO3A1_HUMAN)
  • Collagen, type III, alpha 1 (D2JYH5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02461

UniProtKB/Swiss-Prot:

CO3A1_HUMAN :
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function.
  • Belongs to the fibrillar collagen family.
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL3A1: view

Function for COL3A1 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for COL3A1 Gene

UniProtKB/Swiss-Prot Function:
Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.
GENATLAS Biochemistry:
collagen type III,alpha 1,fibril forming,putative down-regulated c-Myc target gene,

Phenotypes From GWAS Catalog for COL3A1 Gene

Gene Ontology (GO) - Molecular Function for COL3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 19932771
GO:0005178 integrin binding NAS 14970208
GO:0005201 extracellular matrix structural constituent IMP 7487954
GO:0005515 protein binding IPI 2839553
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 25037231
genes like me logo Genes that share ontologies with COL3A1: view
genes like me logo Genes that share phenotypes with COL3A1: view

Human Phenotype Ontology for COL3A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL3A1 Gene

MGI Knock Outs for COL3A1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL3A1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL3A1 Gene

Localization for COL3A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL3A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL3A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005581 collagen trimer IEA --
GO:0005586 collagen type III trimer IDA,NAS 1672129
GO:0005615 extracellular space IBA,NAS 9036918
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL3A1: view

Pathways & Interactions for COL3A1 Gene

PathCards logo

SuperPathways for COL3A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
Collagen biosynthesis and modifying enzymes
.75
Collagen formation
.75
Collagen chain trimerization
.67
Assembly of collagen fibrils and other multimeric structures
.65
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
Protein digestion and absorption
.42
2 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
3 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
4 Phospholipase-C Pathway
Phospholipase-C Pathway
.56
PTEN Pathway
.56
5 Binding and Uptake of Ligands by Scavenger Receptors
Binding and Uptake of Ligands by Scavenger Receptors
.43
Scavenging by Class A Receptors
.43
genes like me logo Genes that share pathways with COL3A1: view

Pathways by source for COL3A1 Gene

1 GeneGo (Thomson Reuters) pathway for COL3A1 Gene
  • Cell adhesion_ECM remodeling
15 Qiagen pathways for COL3A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

SIGNOR curated interactions for COL3A1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for COL3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0007160 cell-matrix adhesion IDA 16912226
GO:0007179 transforming growth factor beta receptor signaling pathway IDA 16360482
GO:0007229 integrin-mediated signaling pathway IMP 14970208
GO:0007507 heart development IMP 7546986
genes like me logo Genes that share ontologies with COL3A1: view

Drugs & Compounds for COL3A1 Gene

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(4) Drugs for COL3A1 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Collagenase Approved, Investigational Pharma Target, binder 0

(5) Additional Compounds for COL3A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL3A1: view

Transcripts for COL3A1 Gene

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mRNA/cDNA for COL3A1 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL3A1

Alternative Splicing Database (ASD) splice patterns (SP) for COL3A1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1:
SP2:
SP3: - - - - - - - - - - - - - - - - - - -
SP4:
SP5: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - - - -
SP7:
SP8:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^
SP1: -
SP2: - - - - - - - -
SP3: - - - - - - - - - -
SP4:
SP5: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP7:
SP8:

ExUns: 45 ^ 46 ^ 47 ^ 48a · 48b · 48c ^ 49 ^ 50a · 50b ^ 51a · 51b ^ 52a · 52b · 52c · 52d
SP1: -
SP2: -
SP3:
SP4:
SP5: - - - - -
SP6: - - - - - -
SP7:
SP8:

Relevant External Links for COL3A1 Gene

GeneLoc Exon Structure for
COL3A1

Expression for COL3A1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL3A1 Gene

mRNA expression in normal human tissues for COL3A1 Gene
mRNA expression by BioGPS for COL3A1 GenemRNA expression by GTEx for COL3A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL3A1 Gene

This gene is overexpressed in Lung (12.7), Gallbladder (11.0), and Urinary Bladder (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL3A1 Gene



Protein tissue co-expression partners for COL3A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL3A1

SOURCE GeneReport for Unigene cluster for COL3A1 Gene:

Hs.443625

Evidence on tissue expression from TISSUES for COL3A1 Gene

  • Skin(4.8)
  • Pancreas(4.7)
  • Liver(4.6)
  • Bone(4.5)
  • Eye(4.5)
  • Lung(4.5)
  • Heart(4.4)
  • Intestine(4.3)
  • Nervous system(4.2)
  • Stomach(4.1)
  • Kidney(3.5)
  • Muscle(3.5)
  • Gall bladder(3)
  • Spleen(2.8)
  • Lymph node(2.7)
  • Thyroid gland(2.7)
  • Blood(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL3A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with COL3A1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COL3A1 Gene

Orthologs for COL3A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL3A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia COL3A1 29 30
  • 99.86 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia COL3A1 30
  • 92 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia COL3A1 30
  • 91 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Col3a1 29 16 30
  • 87.63 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Col3a1 29
  • 87.32 (n)
Oppossum
(Monodelphis domestica)
 Mammalia COL3A1 30
  • 81 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia COL3A1 30
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves COL3A1 29
  • 71.24 (n)
-- 30
  • 19 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia COL3A1 30
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia col3a1 29
  • 71.72 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Cg25C 30
  • 27 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7880 30
  • 49 (a)
 OneToMany
Species where no ortholog for COL3A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for COL3A1 Gene

ENSEMBL:
Gene Tree for COL3A1 (if available)
TreeFam:
Gene Tree for COL3A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL3A1: view image
Alliance of Genome Resources:
Additional Orthologs for COL3A1

Paralogs for COL3A1 Gene

Paralogs for COL3A1 Gene

(17) SIMAP similar genes for COL3A1 Gene using alignment to 10 proteins:

  • CO3A1_HUMAN
  • D2JYH5_HUMAN
  • E7ENY8_HUMAN
  • H7C435_HUMAN
  • R4N3C5_HUMAN
  • V9GZG2_HUMAN
  • V9GZI1_HUMAN
  • V9GZL2_HUMAN
  • V9GZM1_HUMAN
  • V9GZS3_HUMAN
genes like me logo Genes that share paralogs with COL3A1: view

Variants for COL3A1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL3A1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1001807 Uncertain Significance: Ehlers-Danlos syndrome, type 4 189,006,259(+) G/A
NM_000090.4(COL3A1):c.3093G>A (p.Lys1031=) 		SYNONYMOUS
1004599 Uncertain Significance: Ehlers-Danlos syndrome, type 4 189,011,679(+) G/C
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro) 		MISSENSE
1006782 Uncertain Significance: Ehlers-Danlos syndrome, type 4 189,010,368(+) A/G
NM_000090.4(COL3A1):c.4011+3A>G 		INTRON
101134 Pathogenic: Ehlers-Danlos syndrome, type 4 188,994,960(+) ATGACATAAAAATATT
NM_000090.3(COL3A1):c.1455+133_1978-178del (p.Gly486_Pro659del) 		SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
1011674 Uncertain Significance: Ehlers-Danlos syndrome, type 4 189,005,401(+) C/T
NM_000090.4(COL3A1):c.2983C>T (p.Pro995Ser) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COL3A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for COL3A1 Gene

Variant ID Type Subtype PubMed ID
dgv7233n54 CNV loss 21841781
dgv7234n54 CNV loss 21841781
esv1030122 CNV deletion 17803354
esv2203663 CNV deletion 18987734
esv2721255 CNV deletion 23290073
esv2721256 CNV deletion 23290073
esv2721257 CNV deletion 23290073
esv3360634 CNV insertion 20981092
esv3371950 CNV insertion 20981092
esv3893522 CNV loss 25118596
esv990670 CNV deletion 20482838
esv993048 CNV deletion 20482838
nsv1114155 CNV deletion 24896259
nsv459992 CNV loss 19166990
nsv834490 CNV gain 17160897

Variation tolerance for COL3A1 Gene

Residual Variation Intolerance Score: 7.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.78; 86.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL3A1 Gene

Human Gene Mutation Database (HGMD)
COL3A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL3A1
Leiden Open Variation Database (LOVD)
COL3A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL3A1 Gene

Disorders for COL3A1 Gene

MalaCards: The human disease database

(48) MalaCards diseases for COL3A1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO3A1_HUMAN
  • Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]: A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. {ECO:0000269 PubMed:10706896, ECO:0000269 PubMed:10923041, ECO:0000269 PubMed:11168790, ECO:0000269 PubMed:12694234, ECO:0000269 PubMed:12786757, ECO:0000269 PubMed:1352273, ECO:0000269 PubMed:1357232, ECO:0000269 PubMed:1370809, ECO:0000269 PubMed:1496983, ECO:0000269 PubMed:1895316, ECO:0000269 PubMed:2243125, ECO:0000269 PubMed:2349939, ECO:0000269 PubMed:2492273, ECO:0000269 PubMed:2808425, ECO:0000269 PubMed:7749417, ECO:0000269 PubMed:7833919, ECO:0000269 PubMed:7912131, ECO:0000269 PubMed:8019562, ECO:0000269 PubMed:8098182, ECO:0000269 PubMed:8411057, ECO:0000269 PubMed:8514866, ECO:0000269 PubMed:8664902, ECO:0000269 PubMed:8680408, ECO:0000269 PubMed:8884076, ECO:0000269 PubMed:8990011, ECO:0000269 PubMed:9036918, ECO:0000269 PubMed:9147870, ECO:0000269 PubMed:9452103, ECO:0000269 Ref.50, ECO:0000269 Ref.55}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) [MIM:618343]: An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur. {ECO:0000269 PubMed:19455184, ECO:0000269 PubMed:25205403, ECO:0000269 PubMed:28258187, ECO:0000269 PubMed:28742248}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for COL3A1

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Publications for COL3A1 Gene

  1. Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. (PMID: 12694234) Kroes HY … van Essen AJ (Clinical genetics 2003) 3 4 22 72
  2. COL3A1 mutation leading to acrogeria (Gottron Type) (PMID: 10819545) Jansen T … Plewig G (The British journal of dermatology 2000) 3 4 22 72
  3. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. (PMID: 28258187) Vandervore L … Jansen AC (Journal of medical genetics 2017) 3 4 72
  4. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. (PMID: 28742248) Horn D … Kornak U (American journal of medical genetics. Part A 2017) 3 4 72
  5. Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). (PMID: 19639654) Morisaki H … Morisaki T (Human mutation 2009) 3 22 40

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