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Col3a1
Gene Detail
Symbol

Name
ID
Col3a1
collagen, type III, alpha 1
MGI:88453
Synonyms
Col3a-1, Tsk2, Tsk-2
Feature Type
protein coding gene
Genetic Map
Chromosome 1
23.67 cM
Detailed Genetic Map ± 1 cM


Mapping data(22)
Sequence Map
Chr1:45311538-45349706 bp, + strand
From VEGA annotation of GRCm38

  38169 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55433  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 chicken; 1 western clawed frog

HCOP human homology predictions: COL3A1
Gene Tree: Col3a1

Human
homologs
COL3A1, collagen, type III, alpha 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1281
neXtProt AC: NX_P02461

Human Synonyms: EDS4A

Human Chr (Location): 2q31; chr2:188974373-189012746 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human COL3A1

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Chemically induced (ENU)(1) Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin.
 
Human Diseases Modeled in Mice Using Col3a1 (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(3)
Interactions
Col3a1 interacts with 233 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (59 records)
Data Summary: Results (431)    Tissues (186)    Images (65)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 16
RNA in situ 405
RT-PCR 10
cDNA source data(1136)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase col3a1    NEW 
Molecular
reagents
All nucleic(1148) Genomic(6) cDNA(1138) Primer pair(3) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000021335 (Evidence)
Ensembl Gene Model ENSMUSG00000026043 (Evidence)
Entrez Gene 12825 (Evidence)
UniGene 249555
DFCI TC1573630, TC1617397, TC1664840, TC1727621
DoTS DT.101184276, DT.101242375, DT.101406451, DT.87042571, DT.94332183, DT.94354293, DT.99867153
NIA Mouse Gene Index U000236
Consensus CDS Project CCDS35554.1
International Mouse Phenotyping Consortium Status Col3a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021335 VEGA Gene Model | MGI Sequence Detail 38169 C57BL/6J ±  kb
transcript OTTMUST00000050577 VEGA | MGI Sequence Detail 5564 Not Applicable 
polypeptide OTTMUSP00000023637 VEGA | MGI Sequence Detail 1464 Not Applicable 

For the selected sequences
All sequences(87) RefSeq(2) UniProt(14)
Polymorphisms
RFLP(4) : SNPs within 2kb(263 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR000885 Fibrillar collagen, C-terminal
InterPro IPR001007 VWFC domain
Protein Ontology PR:000003328 collagen alpha-1(III) chain
References
(Earliest) J:20241 Liau G, et al., Coordinate regulation of the levels of type III and type I collagen mRNA in most but not all mouse fibroblasts. J Biol Chem. 1985 Jan 10;260(1):531-6
(Latest) J:222294 Walker KA, et al., Fgfr2 is integral for bladder mesenchyme patterning and function. Am J Physiol Renal Physiol. 2015 Apr 15;308(8):F888-98
All references(129)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-15277, MGD-MRK-15278, MGD-MRK-2064, MGD-MRK-2065, MGI:2138608, MGI:98851

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory