UniProtKB - P55268 (LAMB2_HUMAN)
Laminin subunit beta-2
LAMB2
Functioni
GO - Molecular functioni
- extracellular matrix structural constituent Source: BHF-UCL
- integrin binding Source: GO_Central
- structural molecule activity Source: ProtInc
GO - Biological processi
- animal organ morphogenesis Source: GO_Central
- astrocyte development Source: Ensembl
- axon extension involved in regeneration Source: Ensembl
- axon guidance Source: Ensembl
- basement membrane assembly Source: GO_Central
- cell migration Source: GO_Central
- cellular protein metabolic process Source: Reactome
- extracellular matrix organization Source: Reactome
- metanephric glomerular basement membrane development Source: Ensembl
- metanephric glomerular visceral epithelial cell development Source: Ensembl
- neuromuscular junction development Source: Ensembl
- post-translational protein modification Source: Reactome
- retina development in camera-type eye Source: Ensembl
- Schwann cell development Source: Ensembl
- substrate adhesion-dependent cell spreading Source: GO_Central
- tissue development Source: GO_Central
- visual perception Source: Ensembl
Keywordsi
Biological process | Cell adhesion |
Enzyme and pathway databases
PathwayCommonsi | P55268 |
Reactomei | R-HSA-3000157, Laminin interactions R-HSA-3000171, Non-integrin membrane-ECM interactions R-HSA-3000178, ECM proteoglycans R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-8874081, MET activates PTK2 signaling R-HSA-8957275, Post-translational protein phosphorylation |
SIGNORi | P55268 |
Names & Taxonomyi
Protein namesi | Recommended name: Laminin subunit beta-2Alternative name(s): Laminin B1s chain Laminin-11 subunit beta Laminin-14 subunit beta Laminin-15 subunit beta Laminin-3 subunit beta Laminin-4 subunit beta Laminin-7 subunit beta Laminin-9 subunit beta S-laminin subunit beta Short name: S-LAM beta |
Gene namesi | Name:LAMB2 Synonyms:LAMS |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000172037.13 |
HGNCi | HGNC:6487, LAMB2 |
MIMi | 150325, gene |
neXtProti | NX_P55268 |
Subcellular locationi
Extracellular region or secreted
Note: S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Extracellular region or secreted
- basement membrane Source: UniProtKB
- collagen-containing extracellular matrix Source: BHF-UCL
- extracellular exosome Source: UniProtKB
- extracellular region Source: Reactome
- laminin complex Source: GO_Central
- laminin-11 complex Source: BHF-UCL
- laminin-3 complex Source: UniProtKB
- synaptic cleft Source: Ensembl
Other locations
- neuromuscular junction Source: Ensembl
Keywords - Cellular componenti
Basement membrane, Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Pierson syndrome (PIERSS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031968 | 246 | R → Q in PIERSS; without ocular abnormalities. 1 PublicationCorresponds to variant dbSNP:rs121912491EnsemblClinVar. | 1 | |
Natural variantiVAR_031969 | 246 | R → W in PIERSS. 1 PublicationCorresponds to variant dbSNP:rs121912488EnsemblClinVar. | 1 | |
Natural variantiVAR_031970 | 321 | C → R in PIERSS and NPHS5; with mild ocular abnormalities. 2 PublicationsCorresponds to variant dbSNP:rs121912492EnsemblClinVar. | 1 | |
Natural variantiVAR_031972 | 1380 | N → K in PIERSS and NPHS5; with mild ocular abnormalities; associated with F-1393. 2 PublicationsCorresponds to variant dbSNP:rs267607207EnsemblClinVar. | 1 | |
Natural variantiVAR_031973 | 1393 | L → F in PIERSS and NPHS5; with mild ocular abnormalities; associated with K-1380. 2 PublicationsCorresponds to variant dbSNP:rs267607208EnsemblClinVar. | 1 |
Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066492 | 147 | H → R in NPHS5. 1 PublicationCorresponds to variant dbSNP:rs387906644EnsemblClinVar. | 1 | |
Natural variantiVAR_031970 | 321 | C → R in PIERSS and NPHS5; with mild ocular abnormalities. 2 PublicationsCorresponds to variant dbSNP:rs121912492EnsemblClinVar. | 1 | |
Natural variantiVAR_031972 | 1380 | N → K in PIERSS and NPHS5; with mild ocular abnormalities; associated with F-1393. 2 PublicationsCorresponds to variant dbSNP:rs267607207EnsemblClinVar. | 1 | |
Natural variantiVAR_031973 | 1393 | L → F in PIERSS and NPHS5; with mild ocular abnormalities; associated with K-1380. 2 PublicationsCorresponds to variant dbSNP:rs267607208EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 3913 |
GeneReviewsi | LAMB2 |
MalaCardsi | LAMB2 |
MIMi | 609049, phenotype 614199, phenotype |
OpenTargetsi | ENSG00000172037 |
Orphaneti | 2670, Pierson syndrome 98915, Synaptic congenital myasthenic syndromes |
PharmGKBi | PA164741827 |
Miscellaneous databases
Pharosi | P55268, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2364187 |
Polymorphism and mutation databases
BioMutai | LAMB2 |
DMDMi | 156630892 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 32 | Sequence analysisAdd BLAST | 32 | |
ChainiPRO_0000017068 | 33 – 1798 | Laminin subunit beta-2Add BLAST | 1766 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 248 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 283 ↔ 292 | PROSITE-ProRule annotation | ||
Disulfide bondi | 285 ↔ 310 | PROSITE-ProRule annotation | ||
Disulfide bondi | 312 ↔ 321 | PROSITE-ProRule annotation | ||
Disulfide bondi | 324 ↔ 344 | PROSITE-ProRule annotation | ||
Disulfide bondi | 347 ↔ 356 | PROSITE-ProRule annotation | ||
Disulfide bondi | 349 ↔ 374 | PROSITE-ProRule annotation | ||
Glycosylationi | 368 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 377 ↔ 386 | PROSITE-ProRule annotation | ||
Disulfide bondi | 389 ↔ 407 | PROSITE-ProRule annotation | ||
Disulfide bondi | 410 ↔ 423 | PROSITE-ProRule annotation | ||
Disulfide bondi | 412 ↔ 438 | PROSITE-ProRule annotation | ||
Disulfide bondi | 440 ↔ 449 | PROSITE-ProRule annotation | ||
Disulfide bondi | 452 ↔ 467 | PROSITE-ProRule annotation | ||
Disulfide bondi | 470 ↔ 484 | PROSITE-ProRule annotation | ||
Disulfide bondi | 472 ↔ 491 | PROSITE-ProRule annotation | ||
Disulfide bondi | 493 ↔ 502 | PROSITE-ProRule annotation | ||
Disulfide bondi | 505 ↔ 519 | PROSITE-ProRule annotation | ||
Disulfide bondi | 522 ↔ 534 | PROSITE-ProRule annotation | ||
Disulfide bondi | 524 ↔ 541 | PROSITE-ProRule annotation | ||
Disulfide bondi | 543 ↔ 552 | PROSITE-ProRule annotation | ||
Disulfide bondi | 783 ↔ 795 | PROSITE-ProRule annotation | ||
Disulfide bondi | 785 ↔ 802 | PROSITE-ProRule annotation | ||
Disulfide bondi | 804 ↔ 813 | PROSITE-ProRule annotation | ||
Disulfide bondi | 816 ↔ 828 | PROSITE-ProRule annotation | ||
Disulfide bondi | 831 ↔ 843 | PROSITE-ProRule annotation | ||
Disulfide bondi | 833 ↔ 850 | PROSITE-ProRule annotation | ||
Disulfide bondi | 852 ↔ 861 | PROSITE-ProRule annotation | ||
Disulfide bondi | 864 ↔ 874 | PROSITE-ProRule annotation | ||
Disulfide bondi | 877 ↔ 886 | PROSITE-ProRule annotation | ||
Disulfide bondi | 879 ↔ 893 | PROSITE-ProRule annotation | ||
Disulfide bondi | 896 ↔ 905 | PROSITE-ProRule annotation | ||
Disulfide bondi | 908 ↔ 924 | PROSITE-ProRule annotation | ||
Disulfide bondi | 927 ↔ 943 | PROSITE-ProRule annotation | ||
Disulfide bondi | 929 ↔ 954 | PROSITE-ProRule annotation | ||
Disulfide bondi | 956 ↔ 965 | PROSITE-ProRule annotation | ||
Disulfide bondi | 968 ↔ 983 | PROSITE-ProRule annotation | ||
Disulfide bondi | 986 ↔ 1000 | PROSITE-ProRule annotation | ||
Disulfide bondi | 988 ↔ 1007 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1010 ↔ 1019 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1022 ↔ 1035 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1038 ↔ 1058 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1040 ↔ 1065 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1067 ↔ 1076 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1079 ↔ 1092 | PROSITE-ProRule annotation | ||
Glycosylationi | 1085 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1095 ↔ 1107 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1097 ↔ 1114 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1116 ↔ 1125 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1128 ↔ 1140 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1143 ↔ 1155 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1145 ↔ 1162 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1164 ↔ 1173 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1176 ↔ 1187 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1190 | InterchainCurated | ||
Disulfide bondi | 1193 | InterchainCurated | ||
Glycosylationi | 1249 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1308 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 1348 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 1499 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Modified residuei | 1532 | Phosphoserine; by FAM20C1 Publication | 1 | |
Disulfide bondi | 1797 | InterchainCurated |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | P55268 |
jPOSTi | P55268 |
MassIVEi | P55268 |
MaxQBi | P55268 |
PaxDbi | P55268 |
PeptideAtlasi | P55268 |
PRIDEi | P55268 |
ProteomicsDBi | 56831 |
PTM databases
GlyConnecti | 1443, 4 N-Linked glycans (4 sites) |
GlyGeni | P55268, 8 sites, 1 O-linked glycan (1 site) |
iPTMneti | P55268 |
PhosphoSitePlusi | P55268 |
SwissPalmi | P55268 |
Expressioni
Gene expression databases
Bgeei | ENSG00000172037, Expressed in apex of heart and 214 other tissues |
ExpressionAtlasi | P55268, baseline and differential |
Genevisiblei | P55268, HS |
Organism-specific databases
HPAi | ENSG00000172037, Low tissue specificity |
Interactioni
Subunit structurei
Laminin 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. Beta-2 is a subunit of laminin-3 (laminin-121 or S-laminin), laminin-4 (laminin-221 or S-merosin), laminin-7 (laminin-321 or KS-laminin), laminin-9 (laminin-421), laminin-11 (laminin-521), laminin-14 (laminin-423) and laminin-15 (laminin-523).
Binary interactionsi
P55268
With | #Exp. | IntAct |
---|---|---|
TSR2 [Q969E8] | 3 | EBI-2529769,EBI-746981 |
GO - Molecular functioni
- integrin binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 110107, 45 interactors |
ComplexPortali | CPX-1772, Laminin-121 complex CPX-1773, Laminin-221 complex CPX-1776, Laminin-321 complex CPX-1778, Laminin-421 complex CPX-1780, Laminin-521 complex CPX-1782, Laminin-423 complex CPX-1783, Laminin-522 complex CPX-1784, Laminin-523 complex |
CORUMi | P55268 |
DIPi | DIP-42106N |
IntActi | P55268, 38 interactors |
MINTi | P55268 |
STRINGi | 9606.ENSP00000388325 |
Miscellaneous databases
RNActi | P55268, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 43 – 282 | Laminin N-terminalPROSITE-ProRule annotationAdd BLAST | 240 | |
Domaini | 283 – 346 | Laminin EGF-like 1PROSITE-ProRule annotationAdd BLAST | 64 | |
Domaini | 347 – 409 | Laminin EGF-like 2PROSITE-ProRule annotationAdd BLAST | 63 | |
Domaini | 410 – 469 | Laminin EGF-like 3PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 470 – 521 | Laminin EGF-like 4PROSITE-ProRule annotationAdd BLAST | 52 | |
Domaini | 522 – 552 | Laminin EGF-like 5; truncatedPROSITE-ProRule annotationAdd BLAST | 31 | |
Domaini | 561 – 777 | Laminin IV type BPROSITE-ProRule annotationAdd BLAST | 217 | |
Domaini | 783 – 830 | Laminin EGF-like 6PROSITE-ProRule annotationAdd BLAST | 48 | |
Domaini | 831 – 876 | Laminin EGF-like 7PROSITE-ProRule annotationAdd BLAST | 46 | |
Domaini | 877 – 926 | Laminin EGF-like 8PROSITE-ProRule annotationAdd BLAST | 50 | |
Domaini | 927 – 985 | Laminin EGF-like 9PROSITE-ProRule annotationAdd BLAST | 59 | |
Domaini | 986 – 1037 | Laminin EGF-like 10PROSITE-ProRule annotationAdd BLAST | 52 | |
Domaini | 1038 – 1094 | Laminin EGF-like 11PROSITE-ProRule annotationAdd BLAST | 57 | |
Domaini | 1095 – 1142 | Laminin EGF-like 12PROSITE-ProRule annotationAdd BLAST | 48 | |
Domaini | 1143 – 1189 | Laminin EGF-like 13PROSITE-ProRule annotationAdd BLAST | 47 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1190 – 1409 | Domain IIAdd BLAST | 220 | |
Regioni | 1410 – 1442 | Domain alphaAdd BLAST | 33 | |
Regioni | 1443 – 1798 | Domain IAdd BLAST | 356 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1253 – 1319 | Sequence analysisAdd BLAST | 67 | |
Coiled coili | 1472 – 1526 | Sequence analysisAdd BLAST | 55 | |
Coiled coili | 1577 – 1790 | Sequence analysisAdd BLAST | 214 |
Domaini
Keywords - Domaini
Coiled coil, Laminin EGF-like domain, Repeat, SignalPhylogenomic databases
eggNOGi | KOG0994, Eukaryota |
GeneTreei | ENSGT00940000156060 |
HOGENOMi | CLU_001560_1_0_1 |
InParanoidi | P55268 |
OMAi | QCQPCEC |
OrthoDBi | 65841at2759 |
PhylomeDBi | P55268 |
TreeFami | TF312903 |
Family and domain databases
Gene3Di | 2.60.120.1490, 1 hit |
InterProi | View protein in InterPro IPR000742, EGF-like_dom IPR002049, Laminin_EGF IPR013015, Laminin_IV_B IPR008211, Laminin_N IPR038684, Laminin_N_sf |
Pfami | View protein in Pfam PF00053, Laminin_EGF, 13 hits PF00055, Laminin_N, 1 hit |
SMARTi | View protein in SMART SM00181, EGF, 9 hits SM00180, EGF_Lam, 13 hits SM00136, LamNT, 1 hit |
PROSITEi | View protein in PROSITE PS00022, EGF_1, 10 hits PS01186, EGF_2, 2 hits PS01248, EGF_LAM_1, 12 hits PS50027, EGF_LAM_2, 13 hits PS51116, LAMININ_IVB, 1 hit PS51117, LAMININ_NTER, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
10 20 30 40 50
MELTSRERGR GQPLPWELRL GLLLSVLAAT LAQAPAPDVP GCSRGSCYPA
60 70 80 90 100
TGDLLVGRAD RLTASSTCGL NGPQPYCIVS HLQDEKKCFL CDSRRPFSAR
110 120 130 140 150
DNPHSHRIQN VVTSFAPQRR AAWWQSENGI PAVTIQLDLE AEFHFTHLIM
160 170 180 190 200
TFKTFRPAAM LVERSADFGR TWHVYRYFSY DCGADFPGVP LAPPRHWDDV
210 220 230 240 250
VCESRYSEIE PSTEGEVIYR VLDPAIPIPD PYSSRIQNLL KITNLRVNLT
260 270 280 290 300
RLHTLGDNLL DPRREIREKY YYALYELVVR GNCFCYGHAS ECAPAPGAPA
310 320 330 340 350
HAEGMVHGAC ICKHNTRGLN CEQCQDFYRD LPWRPAEDGH SHACRKCECH
360 370 380 390 400
GHTHSCHFDM AVYLASGNVS GGVCDGCQHN TAGRHCELCR PFFYRDPTKD
410 420 430 440 450
LRDPAVCRSC DCDPMGSQDG GRCDSHDDPA LGLVSGQCRC KEHVVGTRCQ
460 470 480 490 500
QCRDGFFGLS ISDRLGCRRC QCNARGTVPG STPCDPNSGS CYCKRLVTGR
510 520 530 540 550
GCDRCLPGHW GLSHDLLGCR PCDCDVGGAL DPQCDEGTGQ CHCRQHMVGR
560 570 580 590 600
RCEQVQPGYF RPFLDHLIWE AEDTRGQVLD VVERLVTPGE TPSWTGSGFV
610 620 630 640 650
RLQEGQTLEF LVASVPKAMD YDLLLRLEPQ VPEQWAELEL IVQRPGPVPA
660 670 680 690 700
HSLCGHLVPK DDRIQGTLQP HARYLIFPNP VCLEPGISYK LHLKLVRTGG
710 720 730 740 750
SAQPETPYSG PGLLIDSLVL LPRVLVLEMF SGGDAAALER QATFERYQCH
760 770 780 790 800
EEGLVPSKTS PSEACAPLLI SLSTLIYNGA LPCQCNPQGS LSSECNPHGG
810 820 830 840 850
QCLCKPGVVG RRCDLCAPGY YGFGPTGCQA CQCSHEGALS SLCEKTSGQC
860 870 880 890 900
LCRTGAFGLR CDRCQRGQWG FPSCRPCVCN GHADECNTHT GACLGCRDHT
910 920 930 940 950
GGEHCERCIA GFHGDPRLPY GGQCRPCPCP EGPGSQRHFA TSCHQDEYSQ
960 970 980 990 1000
QIVCHCRAGY TGLRCEACAP GHFGDPSRPG GRCQLCECSG NIDPMDPDAC
1010 1020 1030 1040 1050
DPHTGQCLRC LHHTEGPHCA HCKPGFHGQA ARQSCHRCTC NLLGTNPQQC
1060 1070 1080 1090 1100
PSPDQCHCDP SSGQCPCLPN VQGPSCDRCA PNFWNLTSGH GCQPCACHPS
1110 1120 1130 1140 1150
RARGPTCNEF TGQCHCRAGF GGRTCSECQE LHWGDPGLQC HACDCDSRGI
1160 1170 1180 1190 1200
DTPQCHRFTG HCSCRPGVSG VRCDQCARGF SGIFPACHPC HACFGDWDRV
1210 1220 1230 1240 1250
VQDLAARTQR LEQRAQELQQ TGVLGAFESS FWHMQEKLGI VQGIVGARNT
1260 1270 1280 1290 1300
SAASTAQLVE ATEELRREIG EATEHLTQLE ADLTDVQDEN FNANHALSGL
1310 1320 1330 1340 1350
ERDRLALNLT LRQLDQHLDL LKHSNFLGAY DSIRHAHSQS AEAERRANTS
1360 1370 1380 1390 1400
ALAVPSPVSN SASARHRTEA LMDAQKEDFN SKHMANQRAL GKLSAHTHTL
1410 1420 1430 1440 1450
SLTDINELVC GAPGDAPCAT SPCGGAGCRD EDGQPRCGGL SCNGAAATAD
1460 1470 1480 1490 1500
LALGRARHTQ AELQRALAEG GSILSRVAET RRQASEAQQR AQAALDKANA
1510 1520 1530 1540 1550
SRGQVEQANQ ELQELIQSVK DFLNQEGADP DSIEMVATRV LELSIPASAE
1560 1570 1580 1590 1600
QIQHLAGAIA ERVRSLADVD AILARTVGDV RRAEQLLQDA RRARSWAEDE
1610 1620 1630 1640 1650
KQKAETVQAA LEEAQRAQGI AQGAIRGAVA DTRDTEQTLY QVQERMAGAE
1660 1670 1680 1690 1700
RALSSAGERA RQLDALLEAL KLKRAGNSLA ASTAEETAGS AQGRAQEAEQ
1710 1720 1730 1740 1750
LLRGPLGDQY QTVKALAERK AQGVLAAQAR AEQLRDEARD LLQAAQDKLQ
1760 1770 1780 1790
RLQELEGTYE ENERALESKA AQLDGLEARM RSVLQAINLQ VQIYNTCQ
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketF5H520 | F5H520_HUMAN | Laminin subunit beta-2 | LAMB2 | 151 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 914 | G → R in CAA92279 (PubMed:7698745).Curated | 1 | |
Sequence conflicti | 1179 | G → A in AAB34682 (PubMed:7795887).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066492 | 147 | H → R in NPHS5. 1 PublicationCorresponds to variant dbSNP:rs387906644EnsemblClinVar. | 1 | |
Natural variantiVAR_031968 | 246 | R → Q in PIERSS; without ocular abnormalities. 1 PublicationCorresponds to variant dbSNP:rs121912491EnsemblClinVar. | 1 | |
Natural variantiVAR_031969 | 246 | R → W in PIERSS. 1 PublicationCorresponds to variant dbSNP:rs121912488EnsemblClinVar. | 1 | |
Natural variantiVAR_031970 | 321 | C → R in PIERSS and NPHS5; with mild ocular abnormalities. 2 PublicationsCorresponds to variant dbSNP:rs121912492EnsemblClinVar. | 1 | |
Natural variantiVAR_031971 | 987 | E → K. Corresponds to variant dbSNP:rs34759087EnsemblClinVar. | 1 | |
Natural variantiVAR_031972 | 1380 | N → K in PIERSS and NPHS5; with mild ocular abnormalities; associated with F-1393. 2 PublicationsCorresponds to variant dbSNP:rs267607207EnsemblClinVar. | 1 | |
Natural variantiVAR_031973 | 1393 | L → F in PIERSS and NPHS5; with mild ocular abnormalities; associated with K-1380. 2 PublicationsCorresponds to variant dbSNP:rs267607208EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z68155, Z68156 Genomic DNA Translation: CAA92279.1 X79683 mRNA Translation: CAA56130.1 S77512 mRNA Translation: AAB34682.2 |
CCDSi | CCDS2789.1 |
PIRi | A55677 S53869 |
RefSeqi | NP_002283.3, NM_002292.3 XP_005265184.1, XM_005265127.3 |
Genome annotation databases
Ensembli | ENST00000305544; ENSP00000307156; ENSG00000172037 ENST00000418109; ENSP00000388325; ENSG00000172037 |
GeneIDi | 3913 |
KEGGi | hsa:3913 |
UCSCi | uc003cwe.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z68155, Z68156 Genomic DNA Translation: CAA92279.1 X79683 mRNA Translation: CAA56130.1 S77512 mRNA Translation: AAB34682.2 |
CCDSi | CCDS2789.1 |
PIRi | A55677 S53869 |
RefSeqi | NP_002283.3, NM_002292.3 XP_005265184.1, XM_005265127.3 |
3D structure databases
SMRi | P55268 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110107, 45 interactors |
ComplexPortali | CPX-1772, Laminin-121 complex CPX-1773, Laminin-221 complex CPX-1776, Laminin-321 complex CPX-1778, Laminin-421 complex CPX-1780, Laminin-521 complex CPX-1782, Laminin-423 complex CPX-1783, Laminin-522 complex CPX-1784, Laminin-523 complex |
CORUMi | P55268 |
DIPi | DIP-42106N |
IntActi | P55268, 38 interactors |
MINTi | P55268 |
STRINGi | 9606.ENSP00000388325 |
Chemistry databases
ChEMBLi | CHEMBL2364187 |
PTM databases
GlyConnecti | 1443, 4 N-Linked glycans (4 sites) |
GlyGeni | P55268, 8 sites, 1 O-linked glycan (1 site) |
iPTMneti | P55268 |
PhosphoSitePlusi | P55268 |
SwissPalmi | P55268 |
Polymorphism and mutation databases
BioMutai | LAMB2 |
DMDMi | 156630892 |
Proteomic databases
EPDi | P55268 |
jPOSTi | P55268 |
MassIVEi | P55268 |
MaxQBi | P55268 |
PaxDbi | P55268 |
PeptideAtlasi | P55268 |
PRIDEi | P55268 |
ProteomicsDBi | 56831 |
Protocols and materials databases
Antibodypediai | 995, 369 antibodies |
DNASUi | 3913 |
Genome annotation databases
Ensembli | ENST00000305544; ENSP00000307156; ENSG00000172037 ENST00000418109; ENSP00000388325; ENSG00000172037 |
GeneIDi | 3913 |
KEGGi | hsa:3913 |
UCSCi | uc003cwe.4, human |
Organism-specific databases
CTDi | 3913 |
DisGeNETi | 3913 |
EuPathDBi | HostDB:ENSG00000172037.13 |
GeneCardsi | LAMB2 |
GeneReviewsi | LAMB2 |
HGNCi | HGNC:6487, LAMB2 |
HPAi | ENSG00000172037, Low tissue specificity |
MalaCardsi | LAMB2 |
MIMi | 150325, gene 609049, phenotype 614199, phenotype |
neXtProti | NX_P55268 |
OpenTargetsi | ENSG00000172037 |
Orphaneti | 2670, Pierson syndrome 98915, Synaptic congenital myasthenic syndromes |
PharmGKBi | PA164741827 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0994, Eukaryota |
GeneTreei | ENSGT00940000156060 |
HOGENOMi | CLU_001560_1_0_1 |
InParanoidi | P55268 |
OMAi | QCQPCEC |
OrthoDBi | 65841at2759 |
PhylomeDBi | P55268 |
TreeFami | TF312903 |
Enzyme and pathway databases
PathwayCommonsi | P55268 |
Reactomei | R-HSA-3000157, Laminin interactions R-HSA-3000171, Non-integrin membrane-ECM interactions R-HSA-3000178, ECM proteoglycans R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-8874081, MET activates PTK2 signaling R-HSA-8957275, Post-translational protein phosphorylation |
SIGNORi | P55268 |
Miscellaneous databases
BioGRID-ORCSi | 3913, 5 hits in 844 CRISPR screens |
ChiTaRSi | LAMB2, human |
GeneWikii | Laminin,_beta_2 |
GenomeRNAii | 3913 |
Pharosi | P55268, Tbio |
PROi | PR:P55268 |
RNActi | P55268, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000172037, Expressed in apex of heart and 214 other tissues |
ExpressionAtlasi | P55268, baseline and differential |
Genevisiblei | P55268, HS |
Family and domain databases
Gene3Di | 2.60.120.1490, 1 hit |
InterProi | View protein in InterPro IPR000742, EGF-like_dom IPR002049, Laminin_EGF IPR013015, Laminin_IV_B IPR008211, Laminin_N IPR038684, Laminin_N_sf |
Pfami | View protein in Pfam PF00053, Laminin_EGF, 13 hits PF00055, Laminin_N, 1 hit |
SMARTi | View protein in SMART SM00181, EGF, 9 hits SM00180, EGF_Lam, 13 hits SM00136, LamNT, 1 hit |
PROSITEi | View protein in PROSITE PS00022, EGF_1, 10 hits PS01186, EGF_2, 2 hits PS01248, EGF_LAM_1, 12 hits PS50027, EGF_LAM_2, 13 hits PS51116, LAMININ_IVB, 1 hit PS51117, LAMININ_NTER, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LAMB2_HUMAN | |
Accessioni | P55268Primary (citable) accession number: P55268 Secondary accession number(s): Q16321 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | August 21, 2007 | |
Last modified: | December 2, 2020 | |
This is version 196 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations