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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
  • Alpha-1 Type III Collagen 3
  • Alpha1 (III) Collagen 3
  • Collagen, Fetal 3
  • 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, Type Iv and Ehlers-Danlos Syndrome, Type Iii. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. GO annotations related to this gene include integrin binding and SMAD binding. An important paralog of this gene is COL1A1.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL3A1 Gene

Genomics for COL3A1 Gene

Regulatory Elements for COL3A1 Gene

Enhancers for COL3A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G189573 1.6 Ensembl ENCODE dbSUPER 11 +605.4 605405 11.5 HDGF HNRNPUL1 PKNOX1 FOXA2 ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 HNRNPCP2 ORMDL1 COL3A1 NEMP2 SLC40A1 ASNSD1 LOC100420666
GH02G189175 1.4 FANTOM5 ENCODE dbSUPER 5.7 +204.0 204009 5.4 CTCF PKNOX1 TAL1 MAX SIN3A RAD21 YY1 TCF12 NCOR1 POLR2A WDR75 LOC100420666 COL5A2 COL3A1 DIRC1 GC02M189180 GC02M189179 MIR3129
GH02G188785 1.2 Ensembl ENCODE dbSUPER 4.6 -187.2 -187151 4.2 STAT1 JUN NFYC CEBPB CEBPG NFIC JUND RAD51 MYNN ZBTB33 DIRC1 COL3A1 LOC105373790
GH02G189090 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.1 +120.6 120649 8.3 CTCF JUN ZSCAN4 RAD21 RFX5 ZNF316 GATA2 ZNF143 SMC3 RCOR1 COL5A2 WDR75 COL3A1 ENSG00000228073 MIR3606
GH02G188285 0.7 ENCODE 4.8 -688.7 -688731 0.9 PKNOX1 DPF2 CEBPG GABPA FOXA1 JUND GATA3 ZNF366 NR2C1 FOS DIRC1 COL3A1 RNA5SP114 GULP1 GC02M188277
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL3A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL3A1 Gene

Chromosome:
2
Start:
188,974,320 bp from pter
End:
189,012,746 bp from pter
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 StructureGene Density

RefSeq DNA sequence for COL3A1 Gene

Proteins for COL3A1 Gene

  • 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.

    Three dimensional structures from OCA and Proteopedia for COL3A1 Gene

    Alternative splice isoforms for COL3A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL3A1 Gene

Post-translational modifications for COL3A1 Gene

  • O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
  • Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at posLast=263263 and Ser1145
  • Modification sites at PhosphoSitePlus

Other Protein References for COL3A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COL3A1 Gene

Domains & Families for COL3A1 Gene

Gene Families for COL3A1 Gene

Suggested Antigen Peptide Sequences for COL3A1 Gene

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

Molecular function for COL3A1 Gene

GENATLAS Biochemistry:
collagen type III,alpha 1,fibril forming,putative down-regulated c-Myc target 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.

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:0046332 SMAD binding IEA --
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 Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 1
cytoskeleton 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for COL3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005586 collagen type III trimer NAS 1672129
GO:0005615 extracellular space NAS 9036918
genes like me logo Genes that share ontologies with COL3A1: view

Pathways & Interactions for COL3A1 Gene

genes like me logo Genes that share pathways with COL3A1: view

Gene Ontology (GO) - Biological Process for COL3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001568 blood vessel 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
genes like me logo Genes that share ontologies with COL3A1: view

No data available for SIGNOR curated interactions for COL3A1 Gene

Drugs & Compounds for COL3A1 Gene

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

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

Unigene Clusters for COL3A1 Gene

Collagen, type III, alpha 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
COL3A1

Expression for COL3A1 Gene

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



Protein tissue co-expression partners for COL3A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL3A1 Gene:

COL3A1

SOURCE GeneReport for Unigene cluster for COL3A1 Gene:

Hs.443625

Evidence on tissue expression from TISSUES for COL3A1 Gene

  • Skin(4.7)
  • Pancreas(4.6)
  • Bone(4.5)
  • Liver(4.4)
  • Lung(4.4)
  • Eye(4.3)
  • Intestine(4.3)
  • Heart(4.2)
  • Nervous system(3.9)
  • Stomach(3.8)
  • Muscle(3.1)
  • Gall bladder(3)
  • Kidney(2.9)
  • Thyroid gland(2.1)
  • Spleen(2)

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
Organs:
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

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 34 35
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia COL3A1 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL3A1 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col3a1 34 16 35
  • 87.63 (n)
rat
(Rattus norvegicus)
Mammalia Col3a1 34
  • 87.32 (n)
oppossum
(Monodelphis domestica)
Mammalia COL3A1 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL3A1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL3A1 34
  • 71.24 (n)
-- 35
  • 19 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia COL3A1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col3a1 34
  • 71.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 35
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 35
  • 49 (a)
OneToMany
Species where no ortholog for COL3A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for COL3A1 Gene

Variants for COL3A1 Gene

Sequence variations from dbSNP and Humsavar for COL3A1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs111505097 Pathogenic, Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] 189,008,943(+) CCCAG(A/G/T)GCAAC reference, missense
rs112456072 Pathogenic, Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] 189,008,961(+) TCCTG(A/G)ACCTC reference, missense
rs112978464 Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] 189,004,136(+) CCAGG(A/G)CCCAC reference, missense
rs113485686 Pathogenic, Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] 189,001,554(+) CCCCC(A/G)GACTT reference, missense
rs121912913 Pathogenic, Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] 189,004,302(+) CACGG(A/G/T)GTCTT reference, missense

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)

Relevant External Links for COL3A1 Gene

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

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

Disorders for COL3A1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for COL3A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, type iv
  • ehlers-danlos syndrome, type iv, autosomal dominant
ehlers-danlos syndrome, type iii
  • ehlers-danlos syndrome, hypermobility type
acrogeria, gottron type
  • acrogeria
thoracic aortic aneurysms and aortic dissections
  • taad
ehlers-danlos syndrome
  • cutis hyperelastica
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO3A1_HUMAN
  • Ehlers-Danlos syndrome 3 (EDS3) [MIM:130020]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. It is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity. {ECO:0000269 PubMed:7833919}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]: The most severe form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Characterized by the joint and dermal manifestations as in other forms of the syndrome, characteristic facial features (acrogeria) in most patients, 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: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.46, ECO:0000269 Ref.51}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COL3A1

Genetic Association Database (GAD)
COL3A1
Human Genome Epidemiology (HuGE) Navigator
COL3A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL3A1
genes like me logo Genes that share disorders with COL3A1: view

No data available for Genatlas for COL3A1 Gene

Publications for COL3A1 Gene

  1. The relationship between COL3A1 exon 31 polymorphism and pelvic organ prolapse. (PMID: 19152942) Jeon M.J. … Bai S.W. (J. Urol. 2009) 3 22 46 64
  2. Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia. (PMID: 19398442) Asling B. … LagerstrAPm-Fermer M. (Gut 2009) 3 22 46 64
  3. Genetic association between functional haplotype of collagen type III alpha 1 and chronic hepatitis B and cirrhosis in Koreans. (PMID: 19000145) Lee S.K. … Kwack K. (Tissue Antigens 2008) 3 22 46 64
  4. [Correlation of COL3A1 gene with type III collagen stability in intracranial aneurysm]. (PMID: 18642782) Hua T. … Zhao J.Z. (Zhonghua Yi Xue Za Zhi 2008) 3 22 46 64
  5. Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse. (PMID: 18722615) Chen H.Y. … Tsai C.H. (Int J Gynaecol Obstet 2008) 3 22 46 64

Products for COL3A1 Gene

Sources for COL3A1 Gene

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