LAMB2

Protein identityUniProt · HPA

UniProt accession

P55268

Gene

LAMB2

Ensembl

ENSG00000172037

Chromosome

3

Canonical length

1798 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins

Subcellular location

Vesicles,Cytosol

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

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), 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 beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

1798 residues, UniProt reviewed canonical sequence.

>P55268|LAMB2
     1  MELTSRERGR GQPLPWELRL GLLLSVLAAT LAQAPAPDVP GCSRGSCYPA TGDLLVGRAD
    61  RLTASSTCGL NGPQPYCIVS HLQDEKKCFL CDSRRPFSAR DNPHSHRIQN VVTSFAPQRR
   121  AAWWQSENGI PAVTIQLDLE AEFHFTHLIM TFKTFRPAAM LVERSADFGR TWHVYRYFSY
   181  DCGADFPGVP LAPPRHWDDV VCESRYSEIE PSTEGEVIYR VLDPAIPIPD PYSSRIQNLL
   241  KITNLRVNLT RLHTLGDNLL DPRREIREKY YYALYELVVR GNCFCYGHAS ECAPAPGAPA
   301  HAEGMVHGAC ICKHNTRGLN CEQCQDFYRD LPWRPAEDGH SHACRKCECH GHTHSCHFDM
   361  AVYLASGNVS GGVCDGCQHN TAGRHCELCR PFFYRDPTKD LRDPAVCRSC DCDPMGSQDG
   421  GRCDSHDDPA LGLVSGQCRC KEHVVGTRCQ QCRDGFFGLS ISDRLGCRRC QCNARGTVPG
   481  STPCDPNSGS CYCKRLVTGR GCDRCLPGHW GLSHDLLGCR PCDCDVGGAL DPQCDEGTGQ
   541  CHCRQHMVGR RCEQVQPGYF RPFLDHLIWE AEDTRGQVLD VVERLVTPGE TPSWTGSGFV
   601  RLQEGQTLEF LVASVPKAMD YDLLLRLEPQ VPEQWAELEL IVQRPGPVPA HSLCGHLVPK
   661  DDRIQGTLQP HARYLIFPNP VCLEPGISYK LHLKLVRTGG SAQPETPYSG PGLLIDSLVL
   721  LPRVLVLEMF SGGDAAALER QATFERYQCH EEGLVPSKTS PSEACAPLLI SLSTLIYNGA
   781  LPCQCNPQGS LSSECNPHGG QCLCKPGVVG RRCDLCAPGY YGFGPTGCQA CQCSHEGALS
   841  SLCEKTSGQC LCRTGAFGLR CDRCQRGQWG FPSCRPCVCN GHADECNTHT GACLGCRDHT
   901  GGEHCERCIA GFHGDPRLPY GGQCRPCPCP EGPGSQRHFA TSCHQDEYSQ QIVCHCRAGY
   961  TGLRCEACAP GHFGDPSRPG GRCQLCECSG NIDPMDPDAC DPHTGQCLRC LHHTEGPHCA
  1021  HCKPGFHGQA ARQSCHRCTC NLLGTNPQQC PSPDQCHCDP SSGQCPCLPN VQGPSCDRCA
  1081  PNFWNLTSGH GCQPCACHPS RARGPTCNEF TGQCHCRAGF GGRTCSECQE LHWGDPGLQC
  1141  HACDCDSRGI DTPQCHRFTG HCSCRPGVSG VRCDQCARGF SGIFPACHPC HACFGDWDRV
  1201  VQDLAARTQR LEQRAQELQQ TGVLGAFESS FWHMQEKLGI VQGIVGARNT SAASTAQLVE
  1261  ATEELRREIG EATEHLTQLE ADLTDVQDEN FNANHALSGL ERDRLALNLT LRQLDQHLDL
  1321  LKHSNFLGAY DSIRHAHSQS AEAERRANTS ALAVPSPVSN SASARHRTEA LMDAQKEDFN
  1381  SKHMANQRAL GKLSAHTHTL SLTDINELVC GAPGDAPCAT SPCGGAGCRD EDGQPRCGGL
  1441  SCNGAAATAD LALGRARHTQ AELQRALAEG GSILSRVAET RRQASEAQQR AQAALDKANA
  1501  SRGQVEQANQ ELQELIQSVK DFLNQEGADP DSIEMVATRV LELSIPASAE QIQHLAGAIA
  1561  ERVRSLADVD AILARTVGDV RRAEQLLQDA RRARSWAEDE KQKAETVQAA LEEAQRAQGI
  1621  AQGAIRGAVA DTRDTEQTLY QVQERMAGAE RALSSAGERA RQLDALLEAL KLKRAGNSLA
  1681  ASTAEETAGS AQGRAQEAEQ LLRGPLGDQY QTVKALAERK AQGVLAAQAR AEQLRDEARD
  1741  LLQAAQDKLQ RLQELEGTYE ENERALESKA AQLDGLEARM RSVLQAINLQ VQIYNTCQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LAMB2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

158 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LAMB2.

Disease | AllUniProt

Conditions LAMB2 is implicated in, by any mechanism.

• Pierson syndrome (PIERS) MIM:609049
• Nephrotic syndrome 5, with or without ocular abnormalities (NPHS5) MIM:614199

Disease | GeneticClinVar

109 pathogenic / likely-pathogenic of 1,373 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pierson syndrome
• LAMB2-related infantile-onset nephrotic syndrome
• Nephrotic syndrome
• LAMB2-related disorder
• Congenital myasthenic syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.66

gnomAD pLI

0

gnomAD missense Z

0.77

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• astrocyte development
• axon extension involved in regeneration
• axon guidance
• cell adhesion
• metanephric podocyte development
• neuromuscular junction development
• positive regulation of cell adhesion
• positive regulation of integrin-mediated signaling pathway
• positive regulation of muscle cell differentiation
• radial glial cell differentiation
• regulation of basement membrane organization
• retina development in camera-type eye
• Schwann cell development
• visual perception
• metanephric glomerular basement membrane development

Molecular functions

• extracellular matrix structural constituent
• integrin binding
• structural constituent of synapse-associated extracellular matrix
• structural molecule activity

Cellular components

• basement membrane
• endoplasmic reticulum lumen
• extracellular exosome
• extracellular matrix
• extracellular region
• laminin-11 complex
• laminin-3 complex
• neuromuscular junction
• protein complex involved in cell-matrix adhesion
• synaptic cleft

Protein domainsUniProt · Pfam · InterPro

• EGF-like domain
• Laminin-type EGF domain
• Laminin, N-terminal
• Laminin IV type B
• Laminin/Netrin Extracellular Matrix
• LAMB1/2/3/4, helical domain
• Laminin/attractin/netrin-like, EGF domain
• Laminin EGF domain
• Laminin N-terminal (Domain VI)
• Laminin IV type B domain
• LAMB1-4 helical domain
• Laminin/attractin EGF domain

KeywordsUniProt

• Basement membrane
• Cell adhesion
• Coiled coil
• Disulfide bond
• Extracellular matrix
• Glycoprotein
• Laminin EGF-like domain
• Phosphoprotein
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of LAMB2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FBXO6