Laminin, Gamma-2

Alternative Names

  • LAMC2
  • Laminin B2 Polypeptide, Truncated
  • LAMB2, Truncated
  • LAMB2T
  • Kalinin
  • Laminin, Nicein, Beta-2
  • LAMNB2
  • Laminin 5, Gamma-2 Subunit
  • LAM5, Gamma-2 Subunit
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OMIM Number

150292

NCBI Gene ID

3918

Uniprot ID

Q13753

Length

58,890 bases

No. of Exons

23

No. of isoforms

2

Protein Name

Laminin subunit gamma-2

Molecular Mass

130,976 Da

Amino Acid Count

1193

Genomic Location

chr1:183,186,238-183,245,127

Gene Map Locus
1q25.3

Description

LAMC2 gene encodes for gamma subunit laminin, which binds by disulfide bonds with an alpha and a gamma subunit to form laminin-332 (laminin-5). Laminin-5 is expressed in several fetal tissues, specifically localized to epithelial cells in skin, lung, and kidney. Laminin binds to cells via a high affinity receptor and mediates the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is also important for wound healing.

Mutations in LAMC2 gene are associated with junctional epidermolysis bullosa.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005562.3:c.136C>TSaudi ArabiaNC_000001.11:g.183207937C>TPathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateNG_007079.2:g.26674C>T; NM_005562.3:c.136C>T; NP_005553.2:p.Gln46Ter1074699
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