MGP Database

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MGP001790

UniProt Annotations

Entry Information
Gene Namelaminin, alpha 2
Protein EntryLAMA2_HUMAN
UniProt IDP24043
SpeciesHuman
Comments
Comment typeDescription
DiseaseMerosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]: Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI. {ECO:0000269|PubMed:11591858, ECO:0000269|PubMed:12552556}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainDomains VI, IV and G are globular.
DomainThe alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
FunctionBinding 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.
Sequence CautionSequence=AAA63215.1; Type=Frameshift; Positions=3098; Evidence={ECO:0000305}; Sequence=AAB18388.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA81394.1; Type=Frameshift; Positions=3098; Evidence={ECO:0000305};
SimilarityContains 17 laminin EGF-like domains. {ECO:0000255|PROSITE-ProRule:PRU00460}.
SimilarityContains 1 laminin N-terminal domain. {ECO:0000255|PROSITE-ProRule:PRU00466}.
SimilarityContains 2 laminin IV type A domains. {ECO:0000255|PROSITE-ProRule:PRU00458}.
SimilarityContains 5 laminin G-like domains. {ECO:0000255|PROSITE-ProRule:PRU00122}.
Subcellular LocationSecreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.
SubunitLaminin 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. Alpha-2 is a subunit of laminin-2 (laminin-211 or merosin), laminin-4 (laminin-221 or S-merosin) and laminin-12 (laminin-213). Interacts with FBLN1, FBLN2 and NID2.
Tissue SpecificityPlacenta, striated muscle, peripheral nerve, cardiac muscle, pancreas, lung, spleen, kidney, adrenal gland, skin, testis, meninges, choroid plexus, and some other regions of the brain; not in liver, thymus and bone.
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