LAMA4

laminin subunit alpha 4

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 are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form 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 alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]

Known Variants1,520 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1488119606:112,430,639G/A—conflicting classifications of pathogenicity
rs15543208726:112,430,643G/A—likely benign
rs25469569246:112,430,651G/A—uncertain significance
rs14865025586:112,430,652A/G—likely benign
rs7827065776:112,430,654A/G—uncertain significance
rs25469569436:112,430,656G/A—uncertain significance
rs1444824866:112,430,662A/G—likely benign
rs7825745926:112,430,664G/T—uncertain significance
rs37342926:112,430,669C/T—likely benign
rs2003001186:112,430,670G/A—likely benign
rs10485881706:112,430,672C/T—uncertain significance
rs1475798626:112,430,673G/A—likely benign
rs1420483296:112,430,675C/T—uncertain significance
rs25469571076:112,430,693T/C—uncertain significance
rs7823330126:112,430,700G/A—likely benign
rs8860390176:112,430,707G/T—uncertain significance
rs7821066226:112,430,712T/C—likely benign
rs7823859196:112,430,714C/T—uncertain significance
rs25469571586:112,430,716T/A—uncertain significance
rs3772047766:112,430,719A/G—conflicting classifications of pathogenicity
rs17775789536:112,430,728T/G—uncertain significance
rs7821535026:112,430,729G/A—uncertain significance
rs15543209516:112,430,730G/T—likely benign
rs7818027256:112,430,732G/A—uncertain significance
rs15543209606:112,430,737C/T—uncertain significance
rs7862054096:112,430,743G/A—uncertain significance
rs3705109606:112,430,748G/T—likely benign
rs7826383146:112,430,767C/T—uncertain significance
rs1458973906:112,430,768G/A—conflicting classifications of pathogenicity
rs21145289556:112,430,770G/A—uncertain significance
rs7821854786:112,430,771G/A—likely benign
rs1392418926:112,430,772T/C—likely benign
rs7826079626:112,430,777G/A—likely benign
rs25469573586:112,430,788G/A—uncertain significance
rs25469573766:112,430,794A/T—likely benign
rs25469573966:112,430,801A/G—likely benign
rs37342916:112,430,886T/C—benign
rs1149465366:112,430,963A/G—likely benign
rs787976146:112,431,086G/T—likely benign
rs37342906:112,435,264T/G—benign
rs37342896:112,435,273A/C—benign
rs15543223306:112,435,274C/A—uncertain significance
rs7818265256:112,435,287C/T—uncertain significance
rs25469643126:112,435,288C/T—uncertain significance
rs17778652156:112,435,294C/A—uncertain significance
rs7824981186:112,435,296A/G—uncertain significance
rs7824466646:112,435,307C/T—likely benign
rs7825578786:112,435,317A/G—conflicting classifications of pathogenicity
rs7822270586:112,435,321G/A—uncertain significance
rs14715136216:112,435,333G/T—uncertain significance
rs2001771346:112,435,335G/A—conflicting classifications of pathogenicity
rs7820010266:112,435,336G/A—uncertain significance
rs7822443086:112,435,338C/T—uncertain significance
rs7824265896:112,435,346A/G—likely benign
rs3713708576:112,435,351T/C—uncertain significance
rs3754472726:112,435,364C/T—likely benign
rs10605009826:112,435,368T/C—uncertain significance
rs9165808106:112,435,372A/G—likely benign
rs17778717786:112,435,373C/A—uncertain significance
rs15543224786:112,435,375G/A—uncertain significance
rs25469645756:112,435,381C/T—uncertain significance
rs15543224806:112,435,386G/A—uncertain significance
rs15543224886:112,435,390C/T—uncertain significance
rs17778730556:112,435,391T/G—uncertain significance
rs15836257026:112,435,394A/G—likely benign
rs25469646636:112,435,406G/T—likely benign
rs21145539366:112,435,411G/T—likely benign
rs1122655456:112,435,412C/G—likely benign
rs69169476:112,435,682A/G—benign
rs69171426:112,435,796G/C—benign
rs119699136:112,435,807G/T—benign
rs25469656526:112,435,850C/A—likely benign
rs3680354826:112,435,865C/T—uncertain significance
rs15543228466:112,435,870A/G—likely benign
rs21145566436:112,435,878G/A—uncertain significance
rs15543228596:112,435,885G/A—likely benign
rs7825317236:112,435,886C/T—uncertain significance
rs7825953826:112,435,888A/G—likely benign
rs21145568166:112,435,900C/A—uncertain significance
rs7824963246:112,435,906G/T—likely benign
rs14724962886:112,435,910G/A—uncertain significance
rs10503536:112,435,912A/T—benign
rs7822708336:112,435,913A/T—uncertain significance
rs7823845336:112,435,914C/T—uncertain significance
rs25469657906:112,435,917A/G—uncertain significance
rs25469658136:112,435,933G/A—likely benign
rs7826523066:112,435,934A/G—uncertain significance
rs17779115316:112,435,937C/G—uncertain significance
rs15543229296:112,435,939A/G—likely benign
rs12195570486:112,435,943T/C—uncertain significance
rs17779121906:112,435,946A/G—uncertain significance
rs25469658576:112,435,953C/T—uncertain significance
rs13189461326:112,435,955A/G—uncertain significance
rs25469658756:112,435,957G/A—likely benign
rs15543229466:112,435,961T/C—uncertain significance
rs25469659176:112,435,970T/C—likely benign
rs21145572346:112,435,972G/A—likely benign
rs15543229536:112,435,974A/G—likely benign
rs3716203566:112,435,975C/T—likely benign
rs1142875636:112,436,096G/A—likely benign

Showing 100 of 1,520 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.