LAMC2
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LAMC2 (HGNC:6493) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
laminin subunit gamma 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
EBR2, LAMB2T, LAMNB2, EBR2A
Alias symbols
nicein-100kDa, kalinin-105kDa, BM600-100kDa
%HI
41.89(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.8(Read more about gnomAD LOEUF score)
Cytoband
1q25.3
Genomic Coordinates
GRCh37/hg19: chr1:183155399-183214262 NCBI Ensembl UCSC
GRCh38/hg38: chr1:183186264-183258968 NCBI Ensembl UCSC
MANE Select Transcript
NM_005562.3 ENST00000264144.5 (Read more about MANE Select)
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. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells. {ECO:0000269|PubMed:8265624}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33145
ClinGen Curation ID:
CCID:007388
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Junctional epidermolysis bullosa Monarch
HI Evidence Comments:
Biallelic variants in the LAMC2 gene have been associated with the diseases Epidermolysis bullosa, junctional, Herlitz type and Epidermolysis bullosa, junctional, non-Herlitz type in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, Junctional epidermolysis bullosa (MONDO:0017612), has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)