Human Gene COL6A3 (ENST00000472056.5) Description and Page Index
  Description: Homo sapiens collagen type VI alpha 3 chain (COL6A3), transcript variant 4, mRNA. (from RefSeq NM_057166)
RefSeq Summary (NM_057166): This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009].
Gencode Transcript: ENST00000472056.5
Gencode Gene: ENSG00000163359.15
Transcript (Including UTRs)
   Position: hg38 chr2:237,324,085-237,414,148 Size: 90,064 Total Exon Count: 41 Strand: -
Coding Region
   Position: hg38 chr2:237,324,774-237,396,817 Size: 72,044 Coding Exon Count: 40 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:237,324,085-237,414,148)mRNA (may differ from genome)Protein (2570 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGImyGene2neXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CO6A3_HUMAN
DESCRIPTION: RecName: Full=Collagen alpha-3(VI) chain; Flags: Precursor;
FUNCTION: Collagen VI acts as a cell-binding protein.
SUBUNIT: Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
PTM: The N-terminus is blocked.
DISEASE: Defects in COL6A3 are a cause of Bethlem myopathy (BM) [MIM:158810]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.
DISEASE: Defects in COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.
SIMILARITY: Belongs to the type VI collagen family.
SIMILARITY: Contains 1 BPTI/Kunitz inhibitor domain.
SIMILARITY: Contains 5 collagen-like domains.
SIMILARITY: Contains 1 fibronectin type-III domain.
SIMILARITY: Contains 12 VWFA domains.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL6A3";

-  MalaCards Disease Associations
  MalaCards Gene Search: COL6A3
Diseases sorted by gene-association score: dystonia 27* (1579), bethlem myopathy 1* (1132), ullrich congenital muscular dystrophy 1* (924), myopathy* (267), collagen type vi-related disorders* (200), congenital myopathy (10), muscular dystrophy (9), tenosynovial giant cell tumor (8), pancreatic cystadenoma (7), dystonia (6), muscle disorders (5), waardenburg's syndrome (5), muscular dystrophy, congenital (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D001564 Benzo(a)pyrene
  • D003907 Dexamethasone
  • D004317 Doxorubicin
  • D013629 Tamoxifen
  • C070379 1,2-bis(2-aminophenoxy)ethane N,N,N',N'-tetraacetic acid acetoxymethyl ester
  • D015056 1-Methyl-3-isobutylxanthine
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • D015124 8-Bromo Cyclic Adenosine Monophosphate
  • C547126 AZM551248
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 331.41 RPKM in Cells - Transformed fibroblasts
Total median expression: 1574.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -70.00226-0.310 Picture PostScript Text
3' UTR -167.20689-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008160 - Collagen
IPR003961 - Fibronectin_type3
IPR013783 - Ig-like_fold
IPR002223 - Prot_inh_Kunz-m
IPR020901 - Prtase_inh_Kunz-CS
IPR002035 - VWF_A

Pfam Domains:
PF01391 - Collagen triple helix repeat (20 copies)
PF00014 - Kunitz/Bovine pancreatic trypsin inhibitor domain
PF00092 - von Willebrand factor type A domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1KNT
- X-ray

1KTH
- X-ray

1KUN
- NMR
To conserve bandwidth, only the images from the first 3 structures are shown.
2KNT - X-ray


ModBase Predicted Comparative 3D Structure on P12111
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0030414 peptidase inhibitor activity

Biological Process:
GO:0007155 cell adhesion
GO:0007517 muscle organ development
GO:0010466 negative regulation of peptidase activity
GO:0010951 negative regulation of endopeptidase activity
GO:0030198 extracellular matrix organization

Cellular Component:
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005589 collagen type VI trimer
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix
GO:0042383 sarcolemma
GO:0070062 extracellular exosome
GO:1903561 extracellular vesicle


-  Descriptions from all associated GenBank mRNAs
  LF205302 - JP 2014500723-A/12805: Polycomb-Associated Non-Coding RNAs.
MA440879 - JP 2018138019-A/12805: Polycomb-Associated Non-Coding RNAs.
GQ891485 - Homo sapiens clone HEL-S-206 epididymis secretory sperm binding protein mRNA, complete cds.
X52022 - H.sapiens RNA for type VI collagen alpha3 chain.
BC144595 - Homo sapiens collagen, type VI, alpha 3, mRNA (cDNA clone MGC:178142 IMAGE:9053125), complete cds.
BC150625 - Homo sapiens collagen, type VI, alpha 3, mRNA (cDNA clone MGC:183535 IMAGE:9056995), complete cds.
BC171790 - Homo sapiens collagen, type VI, alpha 3, mRNA (cDNA clone MGC:198505 IMAGE:9054444), complete cds.
BC172233 - Synthetic construct Homo sapiens clone IMAGE:9036760; MGC:198938 collagen, type VI, alpha 3 (COL6A3) gene, encodes complete protein.
AK303290 - Homo sapiens cDNA FLJ57023 complete cds, highly similar to Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 3, mRNA.
BX647361 - Homo sapiens mRNA; cDNA DKFZp686N0262 (from clone DKFZp686N0262).
BC033174 - Homo sapiens, Similar to collagen, type VI, alpha 3, clone IMAGE:4560529, mRNA, partial cds.
AB209636 - Homo sapiens mRNA for alpha 3 type VI collagen isoform 5 precursor variant protein.
BX641155 - Homo sapiens mRNA; cDNA DKFZp686D23123 (from clone DKFZp686D23123).
LF318958 - JP 2014500723-A/126461: Polycomb-Associated Non-Coding RNAs.
MA554535 - JP 2018138019-A/126461: Polycomb-Associated Non-Coding RNAs.
DM110839 - Novel Cancer Marker and Use Thereof.
LF318959 - JP 2014500723-A/126462: Polycomb-Associated Non-Coding RNAs.
MA554536 - JP 2018138019-A/126462: Polycomb-Associated Non-Coding RNAs.
JD145180 - Sequence 126204 from Patent EP1572962.
LF318960 - JP 2014500723-A/126463: Polycomb-Associated Non-Coding RNAs.
MA554537 - JP 2018138019-A/126463: Polycomb-Associated Non-Coding RNAs.
JD235391 - Sequence 216415 from Patent EP1572962.
JD526085 - Sequence 507109 from Patent EP1572962.
JD399277 - Sequence 380301 from Patent EP1572962.
LF318962 - JP 2014500723-A/126465: Polycomb-Associated Non-Coding RNAs.
MA554539 - JP 2018138019-A/126465: Polycomb-Associated Non-Coding RNAs.
JD200080 - Sequence 181104 from Patent EP1572962.
LF318963 - JP 2014500723-A/126466: Polycomb-Associated Non-Coding RNAs.
MA554540 - JP 2018138019-A/126466: Polycomb-Associated Non-Coding RNAs.
LF318965 - JP 2014500723-A/126468: Polycomb-Associated Non-Coding RNAs.
MA554542 - JP 2018138019-A/126468: Polycomb-Associated Non-Coding RNAs.
LF318968 - JP 2014500723-A/126471: Polycomb-Associated Non-Coding RNAs.
MA554545 - JP 2018138019-A/126471: Polycomb-Associated Non-Coding RNAs.
LF318971 - JP 2014500723-A/126474: Polycomb-Associated Non-Coding RNAs.
MA554548 - JP 2018138019-A/126474: Polycomb-Associated Non-Coding RNAs.
LF318974 - JP 2014500723-A/126477: Polycomb-Associated Non-Coding RNAs.
MA554551 - JP 2018138019-A/126477: Polycomb-Associated Non-Coding RNAs.
LF318976 - JP 2014500723-A/126479: Polycomb-Associated Non-Coding RNAs.
MA554553 - JP 2018138019-A/126479: Polycomb-Associated Non-Coding RNAs.
LF318978 - JP 2014500723-A/126481: Polycomb-Associated Non-Coding RNAs.
MA554555 - JP 2018138019-A/126481: Polycomb-Associated Non-Coding RNAs.
LF318979 - JP 2014500723-A/126482: Polycomb-Associated Non-Coding RNAs.
MA554556 - JP 2018138019-A/126482: Polycomb-Associated Non-Coding RNAs.
LF318980 - JP 2014500723-A/126483: Polycomb-Associated Non-Coding RNAs.
MA554557 - JP 2018138019-A/126483: Polycomb-Associated Non-Coding RNAs.
LF318981 - JP 2014500723-A/126484: Polycomb-Associated Non-Coding RNAs.
MA554558 - JP 2018138019-A/126484: Polycomb-Associated Non-Coding RNAs.
LF318982 - JP 2014500723-A/126485: Polycomb-Associated Non-Coding RNAs.
MA554559 - JP 2018138019-A/126485: Polycomb-Associated Non-Coding RNAs.
LF318983 - JP 2014500723-A/126486: Polycomb-Associated Non-Coding RNAs.
MA554560 - JP 2018138019-A/126486: Polycomb-Associated Non-Coding RNAs.
LF318985 - JP 2014500723-A/126488: Polycomb-Associated Non-Coding RNAs.
MA554562 - JP 2018138019-A/126488: Polycomb-Associated Non-Coding RNAs.
LF318987 - JP 2014500723-A/126490: Polycomb-Associated Non-Coding RNAs.
MA554564 - JP 2018138019-A/126490: Polycomb-Associated Non-Coding RNAs.
M20778 - Homo sapien, alpha-3 (VI) collagen.
LF318988 - JP 2014500723-A/126491: Polycomb-Associated Non-Coding RNAs.
MA554565 - JP 2018138019-A/126491: Polycomb-Associated Non-Coding RNAs.
LF318990 - JP 2014500723-A/126493: Polycomb-Associated Non-Coding RNAs.
MA554567 - JP 2018138019-A/126493: Polycomb-Associated Non-Coding RNAs.
LF318991 - JP 2014500723-A/126494: Polycomb-Associated Non-Coding RNAs.
MA554568 - JP 2018138019-A/126494: Polycomb-Associated Non-Coding RNAs.
LF318992 - JP 2014500723-A/126495: Polycomb-Associated Non-Coding RNAs.
MA554569 - JP 2018138019-A/126495: Polycomb-Associated Non-Coding RNAs.
LF318993 - JP 2014500723-A/126496: Polycomb-Associated Non-Coding RNAs.
MA554570 - JP 2018138019-A/126496: Polycomb-Associated Non-Coding RNAs.
LF318994 - JP 2014500723-A/126497: Polycomb-Associated Non-Coding RNAs.
MA554571 - JP 2018138019-A/126497: Polycomb-Associated Non-Coding RNAs.
LF318996 - JP 2014500723-A/126499: Polycomb-Associated Non-Coding RNAs.
MA554573 - JP 2018138019-A/126499: Polycomb-Associated Non-Coding RNAs.
X06196 - Human mRNA for collagen alpha 3 (VI) chain 5'region.
M27449 - Human alpha-3 type VI collagen (COL6A3) mRNA, partial cds.
LF318997 - JP 2014500723-A/126500: Polycomb-Associated Non-Coding RNAs.
MA554574 - JP 2018138019-A/126500: Polycomb-Associated Non-Coding RNAs.
LF318998 - JP 2014500723-A/126501: Polycomb-Associated Non-Coding RNAs.
MA554575 - JP 2018138019-A/126501: Polycomb-Associated Non-Coding RNAs.
LF319000 - JP 2014500723-A/126503: Polycomb-Associated Non-Coding RNAs.
MA554577 - JP 2018138019-A/126503: Polycomb-Associated Non-Coding RNAs.
LF319002 - JP 2014500723-A/126505: Polycomb-Associated Non-Coding RNAs.
MA554579 - JP 2018138019-A/126505: Polycomb-Associated Non-Coding RNAs.
LF319004 - JP 2014500723-A/126507: Polycomb-Associated Non-Coding RNAs.
MA554581 - JP 2018138019-A/126507: Polycomb-Associated Non-Coding RNAs.
LF319007 - JP 2014500723-A/126510: Polycomb-Associated Non-Coding RNAs.
MA554584 - JP 2018138019-A/126510: Polycomb-Associated Non-Coding RNAs.
LF319008 - JP 2014500723-A/126511: Polycomb-Associated Non-Coding RNAs.
MA554585 - JP 2018138019-A/126511: Polycomb-Associated Non-Coding RNAs.
LF319010 - JP 2014500723-A/126513: Polycomb-Associated Non-Coding RNAs.
MA554587 - JP 2018138019-A/126513: Polycomb-Associated Non-Coding RNAs.
LF319011 - JP 2014500723-A/126514: Polycomb-Associated Non-Coding RNAs.
MA554588 - JP 2018138019-A/126514: Polycomb-Associated Non-Coding RNAs.
LF319013 - JP 2014500723-A/126516: Polycomb-Associated Non-Coding RNAs.
MA554590 - JP 2018138019-A/126516: Polycomb-Associated Non-Coding RNAs.
LF319014 - JP 2014500723-A/126517: Polycomb-Associated Non-Coding RNAs.
MA554591 - JP 2018138019-A/126517: Polycomb-Associated Non-Coding RNAs.
LF319015 - JP 2014500723-A/126518: Polycomb-Associated Non-Coding RNAs.
MA554592 - JP 2018138019-A/126518: Polycomb-Associated Non-Coding RNAs.
LF319016 - JP 2014500723-A/126519: Polycomb-Associated Non-Coding RNAs.
MA554593 - JP 2018138019-A/126519: Polycomb-Associated Non-Coding RNAs.
LF319017 - JP 2014500723-A/126520: Polycomb-Associated Non-Coding RNAs.
MA554594 - JP 2018138019-A/126520: Polycomb-Associated Non-Coding RNAs.
LF319018 - JP 2014500723-A/126521: Polycomb-Associated Non-Coding RNAs.
MA554595 - JP 2018138019-A/126521: Polycomb-Associated Non-Coding RNAs.
LF319020 - JP 2014500723-A/126523: Polycomb-Associated Non-Coding RNAs.
MA554597 - JP 2018138019-A/126523: Polycomb-Associated Non-Coding RNAs.
LF319021 - JP 2014500723-A/126524: Polycomb-Associated Non-Coding RNAs.
MA554598 - JP 2018138019-A/126524: Polycomb-Associated Non-Coding RNAs.
BX647500 - Homo sapiens mRNA; cDNA DKFZp686K04147 (from clone DKFZp686K04147).
AK092021 - Homo sapiens cDNA FLJ34702 fis, clone MESAN2002790, highly similar to Collagen alpha-3(VI) chain precursor.
AX747317 - Sequence 842 from Patent EP1308459.
AK304870 - Homo sapiens cDNA FLJ61583 complete cds, highly similar to Collagen alpha-3(VI) chain precursor.
LF319023 - JP 2014500723-A/126526: Polycomb-Associated Non-Coding RNAs.
MA554600 - JP 2018138019-A/126526: Polycomb-Associated Non-Coding RNAs.
LF319025 - JP 2014500723-A/126528: Polycomb-Associated Non-Coding RNAs.
MA554602 - JP 2018138019-A/126528: Polycomb-Associated Non-Coding RNAs.
LF319026 - JP 2014500723-A/126529: Polycomb-Associated Non-Coding RNAs.
MA554603 - JP 2018138019-A/126529: Polycomb-Associated Non-Coding RNAs.
LF319027 - JP 2014500723-A/126530: Polycomb-Associated Non-Coding RNAs.
MA554604 - JP 2018138019-A/126530: Polycomb-Associated Non-Coding RNAs.
LF319029 - JP 2014500723-A/126532: Polycomb-Associated Non-Coding RNAs.
MA554606 - JP 2018138019-A/126532: Polycomb-Associated Non-Coding RNAs.
LF319030 - JP 2014500723-A/126533: Polycomb-Associated Non-Coding RNAs.
MA554607 - JP 2018138019-A/126533: Polycomb-Associated Non-Coding RNAs.
LF319031 - JP 2014500723-A/126534: Polycomb-Associated Non-Coding RNAs.
MA554608 - JP 2018138019-A/126534: Polycomb-Associated Non-Coding RNAs.
LF319032 - JP 2014500723-A/126535: Polycomb-Associated Non-Coding RNAs.
MA554609 - JP 2018138019-A/126535: Polycomb-Associated Non-Coding RNAs.
LF319033 - JP 2014500723-A/126536: Polycomb-Associated Non-Coding RNAs.
MA554610 - JP 2018138019-A/126536: Polycomb-Associated Non-Coding RNAs.
LF319035 - JP 2014500723-A/126538: Polycomb-Associated Non-Coding RNAs.
MA554612 - JP 2018138019-A/126538: Polycomb-Associated Non-Coding RNAs.
LF319036 - JP 2014500723-A/126539: Polycomb-Associated Non-Coding RNAs.
MA554613 - JP 2018138019-A/126539: Polycomb-Associated Non-Coding RNAs.
AK308451 - Homo sapiens cDNA, FLJ98399.
LF319038 - JP 2014500723-A/126541: Polycomb-Associated Non-Coding RNAs.
MA554615 - JP 2018138019-A/126541: Polycomb-Associated Non-Coding RNAs.
LF319042 - JP 2014500723-A/126545: Polycomb-Associated Non-Coding RNAs.
MA554619 - JP 2018138019-A/126545: Polycomb-Associated Non-Coding RNAs.
LF319044 - JP 2014500723-A/126547: Polycomb-Associated Non-Coding RNAs.
MA554621 - JP 2018138019-A/126547: Polycomb-Associated Non-Coding RNAs.
JD050387 - Sequence 31411 from Patent EP1572962.
JD214852 - Sequence 195876 from Patent EP1572962.
LF319057 - JP 2014500723-A/126560: Polycomb-Associated Non-Coding RNAs.
MA554634 - JP 2018138019-A/126560: Polycomb-Associated Non-Coding RNAs.
LF319059 - JP 2014500723-A/126562: Polycomb-Associated Non-Coding RNAs.
MA554636 - JP 2018138019-A/126562: Polycomb-Associated Non-Coding RNAs.
JD290180 - Sequence 271204 from Patent EP1572962.
JD348346 - Sequence 329370 from Patent EP1572962.
JD109563 - Sequence 90587 from Patent EP1572962.
JD379530 - Sequence 360554 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04512 - ECM-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P12111 (Reactome details) participates in the following event(s):

R-HSA-8948230 P3HB binds 4-Hyp-collagen propeptides
R-HSA-2002460 P4HB binds Collagen chains
R-HSA-8944247 Association of procollagen type VI
R-HSA-1650808 Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines
R-HSA-1980233 Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen
R-HSA-8948219 PLOD3 binds Lysyl hydroxylated collagen propeptides
R-HSA-8948228 COLGALT1,COLGALT2 bind Lysyl hydroxylated collagen propeptides
R-HSA-1614460 Dimerization of procollagen type VI
R-HSA-1981104 Procollagen lysyl hydroxylases convert collagen lysines to 5-hydroxylysines
R-HSA-1981120 Galactosylation of collagen propeptide hydroxylysines by procollagen galactosyltransferases 1, 2.
R-HSA-1981128 Galactosylation of collagen propeptide hydroxylysines by PLOD3
R-HSA-1981157 Glucosylation of collagen propeptide hydroxylysines
R-HSA-375151 Interaction of NCAM1 with collagens
R-HSA-2022073 Procollagen triple helix formation
R-HSA-1614461 Tetramerization of procollagen VI
R-HSA-382054 PDGF binds to extracellular matrix proteins
R-HSA-2213207 Formation of collagen networks
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-8948216 Collagen chain trimerization
R-HSA-1474290 Collagen formation
R-HSA-1474244 Extracellular matrix organization
R-HSA-419037 NCAM1 interactions
R-HSA-186797 Signaling by PDGF
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-422475 Axon guidance
R-HSA-162582 Signal Transduction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A8MT30, CO6A3_HUMAN, NM_057166, P12111, Q16501, Q53QF4, Q53QF6, uc010znj.1, uc010znj.2
UCSC ID: uc010znj.2
RefSeq Accession: NM_057166
Protein: P12111 (aka CO6A3_HUMAN or CA36_HUMAN)
CCDS: CCDS33410.2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COL6A3:
bethlem (Collagen Type VI-Related Disorders)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.