Human Gene LAMC3 (ENST00000361069.9_4) from GENCODE V47lift37
  Description: laminin subunit gamma 3 (from RefSeq NM_006059.4)
Gencode Transcript: ENST00000361069.9_4
Gencode Gene: ENSG00000050555.19_10
Transcript (Including UTRs)
   Position: hg19 chr9:133,884,561-133,969,860 Size: 85,300 Total Exon Count: 28 Strand: +
Coding Region
   Position: hg19 chr9:133,884,602-133,967,174 Size: 82,573 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:133,884,561-133,969,860)mRNA (may differ from genome)Protein (1575 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LAMC3_HUMAN
DESCRIPTION: RecName: Full=Laminin subunit gamma-3; AltName: Full=Laminin-12 subunit gamma; AltName: Full=Laminin-14 subunit gamma; AltName: Full=Laminin-15 subunit gamma; Flags: Precursor;
FUNCTION: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
SUBUNIT: Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Gamma-3 is a subunit of laminin-12 (laminin-213), laminin-14 (laminin-423) and laminin-15 (laminin-523).
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
TISSUE SPECIFICITY: Broadly expressed in: skin, heart, lung, and the reproductive tracts.
DOMAIN: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
DOMAIN: Domain IV is globular.
DISEASE: Defects in LAMC3 are the cause of cortical malformations occipital (OCCM) [MIM:614115]. OCCM is a disease in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes.
SIMILARITY: Contains 11 laminin EGF-like domains.
SIMILARITY: Contains 1 laminin IV type A domain.
SIMILARITY: Contains 1 laminin N-terminal domain.
SEQUENCE CAUTION: Sequence=AAD36991.1; Type=Frameshift; Positions=598, 609;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LAMC3
Diseases sorted by gene-association score: cortical malformations, occipital* (1679), tooth resorption (9), pachygyria (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.82 RPKM in Cervix - Endocervix
Total median expression: 169.64 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 -16.9041-0.412 Picture PostScript Text
3' UTR -1104.202686-0.411 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
IPR002049 - EGF_laminin
IPR000034 - Laminin_B_type_IV
IPR008211 - Laminin_N

Pfam Domains:
PF00052 - Laminin B (Domain IV)
PF00053 - Laminin EGF domain
PF00055 - Laminin N-terminal (Domain VI)

SCOP Domains:
49785 - Galactose-binding domain-like
57196 - EGF/Laminin

ModBase Predicted Comparative 3D Structure on Q9Y6N6
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity

Biological Process:
GO:0000904 cell morphogenesis involved in differentiation
GO:0007155 cell adhesion
GO:0007601 visual perception
GO:0014002 astrocyte development
GO:0030198 extracellular matrix organization
GO:0060041 retina development in camera-type eye

Cellular Component:
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0016020 membrane
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  AF041835 - Homo sapiens laminin gamma 3 chain precursor (LAMC3) mRNA, complete cds.
AK075536 - Homo sapiens cDNA PSEC0236 fis, clone HEMBA1007104, highly similar to Laminin gamma-3 chain precursor.
BC156274 - Synthetic construct Homo sapiens clone IMAGE:100061660, MGC:190067 laminin, gamma 3 (LAMC3) mRNA, encodes complete protein.
AB208887 - Homo sapiens mRNA for laminin, gamma 3 precursor variant protein.
AL133595 - Homo sapiens mRNA; cDNA DKFZp434E202 (from clone DKFZp434E202).
JD390843 - Sequence 371867 from Patent EP1572962.
JD506232 - Sequence 487256 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y6N6 (Reactome details) participates in the following event(s):

R-HSA-2327803 Laminins bind Nidogens 1, 2
R-HSA-2426355 NTN4 binds laminins with gamma-1, gamma-3
R-HSA-4084505 Laminins bind HSPG2
R-HSA-2328129 Dystroglycan binds Laminins and Dystrophin
R-HSA-2396083 Laminins bind galactosyl sulfatide and related sulfated glycolipids
R-HSA-2426450 Laminins:Nidogens binds collagen type IV networks
R-HSA-2426530 Laminins:Nidogens binds HSPG2
R-HSA-3000157 Laminin interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: B1APX9, B1APY0, ENST00000361069.1, ENST00000361069.2, ENST00000361069.3, ENST00000361069.4, ENST00000361069.5, ENST00000361069.6, ENST00000361069.7, ENST00000361069.8, LAMC3_HUMAN, NM_006059, Q59H72, Q9Y6N6, uc318bvy.1, uc318bvy.2
UCSC ID: ENST00000361069.9_4
RefSeq Accession: NM_006059.4
Protein: Q9Y6N6 (aka LAMC3_HUMAN or LMG3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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