LAMC2
laminin subunit gamma 2
Summary
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
Known Variants961 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs759217899 | 1:183,155,211 | G/A | — | uncertain significance |
| rs574261946 | 1:183,155,226 | T/C | — | uncertain significance |
| rs2276544 | 1:183,155,228 | C/A | — | benign |
| rs774026225 | 1:183,155,232 | G/C | — | uncertain significance |
| rs2276543 | 1:183,155,305 | A/G | — | benign |
| rs886045624 | 1:183,155,348 | T/G | — | uncertain significance |
| rs2276542 | 1:183,155,399 | G/A | — | benign |
| rs1224829874 | 1:183,155,409 | G/A | — | uncertain significance |
| rs567581742 | 1:183,155,449 | C/T | — | uncertain significance |
| rs77133472 | 1:183,155,450 | C/G | — | benign |
| rs762430522 | 1:183,155,473 | C/T | — | uncertain significance |
| rs684527 | 1:183,155,482 | A/C | — | benign |
| rs886045625 | 1:183,155,488 | A/G | — | conflicting classifications of pathogenicity |
| rs1553262199 | 1:183,155,489 | T/C | — | pathogenic |
| rs1479808203 | 1:183,155,490 | G/T | — | likely pathogenic |
| rs988966201 | 1:183,155,493 | T/C | — | likely benign |
| rs374431798 | 1:183,155,496 | G/T | — | likely benign |
| rs2525888488 | 1:183,155,501 | G/A | — | likely pathogenic |
| rs576076077 | 1:183,155,506 | G/A | — | likely benign |
| rs1414927760 | 1:183,155,508 | C/T | — | likely benign |
| rs772618887 | 1:183,155,517 | C/T | — | likely benign |
| rs1352517062 | 1:183,155,523 | C/T | — | likely benign |
| rs769384932 | 1:183,155,526 | G/C | — | likely benign |
| rs775148193 | 1:183,155,529 | C/G | — | likely benign |
| rs751052489 | 1:183,155,535 | G/T | — | conflicting classifications of pathogenicity |
| rs767456437 | 1:183,155,538 | C/T | — | likely benign |
| rs371296301 | 1:183,155,545 | C/T | — | uncertain significance |
| rs2102154731 | 1:183,155,547 | G/A | — | likely benign |
| rs2525889709 | 1:183,155,553 | C/T | — | likely benign |
| rs376512605 | 1:183,155,556 | C/T | — | conflicting classifications of pathogenicity |
| rs755192261 | 1:183,155,559 | G/A | — | likely benign |
| rs1658153097 | 1:183,155,561 | G/A | — | uncertain significance |
| rs2102154792 | 1:183,155,562 | G/A | — | likely benign |
| rs779191964 | 1:183,155,565 | A/G | — | uncertain significance |
| rs748257688 | 1:183,155,573 | C/T | — | likely benign |
| rs1658153781 | 1:183,155,574 | G/T | — | likely benign |
| rs2525889849 | 1:183,155,576 | C/T | — | likely benign |
| rs778324521 | 1:183,155,581 | A/G | — | likely benign |
| rs6678888 | 1:183,155,700 | C/A | — | benign |
| rs61418038 | 1:183,155,717 | C/A | — | benign |
| rs6703054 | 1:183,155,778 | A/C | — | benign |
| rs3768610 | 1:183,164,473 | G/A | regulatory region variant | — |
| rs1028771 | 1:183,170,948 | A/C | intron variant | — |
| rs7556064 | 1:183,173,372 | C/G | — | — |
| rs525410 | 1:183,176,430 | A/T | — | — |
| rs972300826 | 1:183,176,998 | T/C | — | likely benign |
| rs781600549 | 1:183,177,000 | T/C | — | likely benign |
| rs201331130 | 1:183,177,007 | C/T | — | likely benign |
| rs2102196200 | 1:183,177,008 | C/T | — | likely benign |
| rs2102196204 | 1:183,177,009 | T/C | — | likely benign |
| rs78056473 | 1:183,177,010 | C/T | — | conflicting classifications of pathogenicity |
| rs2525975387 | 1:183,177,011 | C/T | — | likely benign |
| rs2102196210 | 1:183,177,012 | C/T | — | likely benign |
| rs771613805 | 1:183,177,014 | A/C | — | pathogenic |
| rs772538256 | 1:183,177,016 | T/C | — | uncertain significance |
| rs760752677 | 1:183,177,017 | C/A | — | likely benign |
| rs1249729283 | 1:183,177,023 | T/C | — | likely benign |
| rs868277253 | 1:183,177,028 | A/G | — | uncertain significance |
| rs151060643 | 1:183,177,032 | G/A | — | likely benign |
| rs2525975765 | 1:183,177,050 | C/A | — | likely benign |
| rs2102196350 | 1:183,177,059 | G/A | — | likely benign |
| rs1658946280 | 1:183,177,062 | A/G | — | likely benign |
| rs1333876460 | 1:183,177,069 | A/G | — | uncertain significance |
| rs1465872714 | 1:183,177,071 | A/G | — | likely benign |
| rs2102196403 | 1:183,177,072 | C/T | — | pathogenic |
| rs569291602 | 1:183,177,083 | T/C | — | likely benign |
| rs2525976377 | 1:183,177,105 | A/G | — | uncertain significance |
| rs2102196531 | 1:183,177,107 | T/C | — | likely benign |
| rs1437265734 | 1:183,177,116 | T/C | — | likely benign |
| rs2525976672 | 1:183,177,131 | C/A | — | likely pathogenic |
| rs146325169 | 1:183,177,132 | G/A | — | conflicting classifications of pathogenicity |
| rs2525976860 | 1:183,177,137 | G/A | — | likely benign |
| rs1658950895 | 1:183,177,155 | C/A | — | likely pathogenic |
| rs2102196636 | 1:183,177,158 | G/T | — | likely benign |
| rs2525977048 | 1:183,177,168 | A/G | — | uncertain significance |
| rs2525977222 | 1:183,177,185 | C/T | — | likely benign |
| rs2525977235 | 1:183,177,188 | C/A | — | likely pathogenic |
| rs1045340514 | 1:183,177,190 | A/G | — | uncertain significance |
| rs147886228 | 1:183,177,191 | T/C | — | likely benign |
| rs2525977383 | 1:183,177,200 | C/A | — | likely benign |
| rs759509443 | 1:183,177,205 | G/A | splice region variant | pathogenic |
| rs775093893 | 1:183,177,213 | A/G | — | likely benign |
| rs2102196840 | 1:183,177,214 | A/G | — | likely benign |
| rs647347 | 1:183,177,218 | G/A | — | benign |
| rs751705672 | 1:183,177,220 | G/A | — | likely benign |
| rs61809149 | 1:183,177,243 | A/G | — | benign |
| rs113949287 | 1:183,177,257 | A/G | — | benign |
| rs635796 | 1:183,177,454 | T/C | — | benign |
| rs183708046 | 1:183,177,884 | G/A | regulatory region variant | — |
| rs16860537 | 1:183,180,260 | A/G | regulatory region variant | — |
| rs2274982 | 1:183,184,428 | C/T | — | benign |
| rs2274981 | 1:183,184,524 | C/T | — | benign |
| rs2526005986 | 1:183,184,568 | C/T | — | likely benign |
| rs368269117 | 1:183,184,571 | T/C | — | likely benign |
| rs12085883 | 1:183,184,573 | C/T | — | likely benign |
| rs774584289 | 1:183,184,577 | G/T | — | likely benign |
| rs2526006147 | 1:183,184,587 | G/T | — | likely pathogenic |
| rs761955522 | 1:183,184,592 | T/C | — | likely benign |
| rs80356683 | 1:183,184,602 | C/T | stop gained | pathogenic |
| rs1659222371 | 1:183,184,607 | T/A | — | likely pathogenic |
Showing 100 of 961 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.