LAMB2 (laminin subunit beta 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3913
Gene name Gene Name - the full gene name approved by the HGNC.
Laminin subunit beta 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LAMB2
Synonyms (NCBI Gene) Gene synonyms aliases
LAMS, NPHS5, PIERS
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez 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, n
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
SNP ID Visualize variation Clinical significance Consequence
rs121912488 G>A Pathogenic Missense variant, coding sequence variant
rs121912489 G>C Pathogenic Stop gained, coding sequence variant
rs121912490 A>T Pathogenic Stop gained, coding sequence variant
rs121912491 C>T Pathogenic Missense variant, coding sequence variant
rs121912492 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT042683 hsa-miR-196b-5p CLASH 23622248
MIRT042388 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0005178 Function Integrin binding IEA
GO:0005198 Function Structural molecule activity NAS 7698745
GO:0005201 Function Extracellular matrix structural constituent ISS
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 25037231, 27068509, 27559042, 28675934
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
150325 6487 ENSG00000172037
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P55268
Protein name Laminin subunit beta-2 (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) (S-LAM be
Protein function Binding 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00055 Laminin_N 47 → 281 Laminin N-terminal (Domain VI) Family
PF00053 Laminin_EGF 283 → 344 Laminin EGF domain Domain
PF00053 Laminin_EGF 347 → 407 Laminin EGF domain Domain
PF00053 Laminin_EGF 410 → 467 Laminin EGF domain Domain
PF00053 Laminin_EGF 470 → 519 Laminin EGF domain Domain
PF00053 Laminin_EGF 522 → 565 Laminin EGF domain Domain
PF00053 Laminin_EGF 783 → 828 Laminin EGF domain Domain
PF00053 Laminin_EGF 831 → 876 Laminin EGF domain Domain
PF00053 Laminin_EGF 877 → 924 Laminin EGF domain Domain
PF00053 Laminin_EGF 927 → 983 Laminin EGF domain Domain
PF00053 Laminin_EGF 986 → 1035 Laminin EGF domain Domain
PF00053 Laminin_EGF 1038 → 1092 Laminin EGF domain Domain
PF00053 Laminin_EGF 1095 → 1141 Laminin EGF domain Domain
PF00053 Laminin_EGF 1143 → 1193 Laminin EGF domain Domain
Sequence 
MELTSRERGRGQPLPWELRLGLLLSVLAATLAQAPAPDVPGCSRGSCYPATGDLLVGRAD
RLTASSTCGLNGPQPYCIVSHLQDEKKCFLCDSRRPFSARDNPHSHRIQNVVTSFAPQRR
AAWWQSENGIPAVTIQLDLEAEFHFTHLIMTFKTFRPAAMLVERSADFGRTWHVYRYFSY
DCGADFPGVPLAPPRHWDDVVCESRYSEIEPSTEGEVIYRVLDPAIPIPDPYSSRIQNLL
KITNLRVNLTRLHTLGDNLLDPRREIREKYYYALYELVVRGNCFCYGHASECAPAPGAPA
HAEGMVHGACICKHNTRGLNCEQCQDFYRDLPWRPAEDGHSHACRKCECHGHTHSCHFDM
AVYLASGNVSGGVCDGCQHNTAGRHCELCRPFFYRDPTKDLRDPAVCRSCDCDPMGSQDG
GRCDSHDDPALGLVSGQCRCKEHVVGTRCQQCRDGFFGLSISDRLGCRRCQCNARGTVPG
STPCDPNSGSCYCKRLVTGRGCDRCLPGHWGLSHDLLGCRPCDCDVGGALDPQCDEGTGQ
CHCRQHMVGRRCEQVQPGYFRPFLDHLIWEAEDTRGQVLDVVERLVTPGETPSWTGSGFV
RLQEGQTLEFLVASVPKAMDYDLLLRLEPQVPEQWAELELIVQRPGPVPAHSLCGHLVPK
DDRIQGTLQPHARYLIFPNPVCLEPGISYKLHLKLVRTGGSAQPETPYSGPGLLIDSLVL
LPRVLVLEMFSGGDAAALERQATFERYQCHEEGLVPSKTSPSEACAPLLISLSTLIYNGA
LPCQCNPQGSLSSECNPHGGQCLCKPGVVGRRCDLCAPGYYGFGPTGCQACQCSHEGALS
SLCEKTSGQCLCRTGAFGLRCDRCQRGQWGFPSCRPCVCNGHADECNTHTGACLGCRDHT
GGEHCERCIAGFHGDPRLPYGGQCRPCPCPEGPGSQRHFATSCHQDEYSQQIVCHCRAGY
TGLRCEACAPGHFGDPSRPGGRCQLCECSGNIDPMDPDACDPHTGQCLRCLHHTEGPHCA
HCKPGFHGQAARQSCHRCTCNLLGTNPQQCPSPDQCHCDPSSGQCPCLPNVQGPSCDRCA
PNFWNLTSGHGCQPCACHPSRARGPTCNEFTGQCHCRAGFGGRTCSECQELHWGDPGLQC
HACDCDSRGIDTPQCHRFTGHCSCRPGVSGVRCDQCARGFSGIFPACHPCHACFGDWDRV
VQDLAARTQRLEQRAQELQQTGVLGAFESSFWHMQEKLGIVQGIVGARNTSAASTAQLVE
ATEELRREIGEATEHLTQLEADLTDVQDENFNANHALSGLERDRLALNLTLRQLDQHLDL
LKHSNFLGAYDSIRHAHSQSAEAERRANTSALAVPSPVSNSASARHRTEALMDAQKEDFN
SKHMANQRALGKLSAHTHTLSLTDINELVCGAPGDAPCATSPCGGAGCRDEDGQPRCGGL
SCNGAAATADLALGRARHTQAELQRALAEGGSILSRVAETRRQASEAQQRAQAALDKANA
SRGQVEQANQELQELIQSVKDFLNQEGADPDSIEMVATRVLELSIPASAEQIQHLAGAIA
ERVRSLADVDAILARTVGDVRRAEQLLQDARRARSWAEDEKQKAETVQAALEEAQRAQGI
AQGAIRGAVADTRDTEQTLYQVQERMAGAERALSSAGERARQLDALLEALKLKRAGNSLA
ASTAEETAGSAQGRAQEAEQLLRGPLGDQYQTVKALAERKAQGVLAAQARAEQLRDEARD
LLQAAQDKLQRLQELEGTYEENERALESKAAQLDGLEARMRSVLQAINLQVQIYNTCQ
Sequence length 1798
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer 		  Laminin interactions
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MET activates PTK2 signaling
Post-translational protein phosphorylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nephrotic Syndrome nephrotic syndrome rs121912488 N/A
Pierson Syndrome pierson syndrome rs1560072794, rs121912488, rs1560063136, rs121912489, rs121912490, rs730880125, rs888830612 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
focal segmental glomerulosclerosis Focal segmental glomerulosclerosis N/A N/A ClinVar
Hemolytic Uremic Syndrome Atypical hemolytic-uremic syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (65)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acquired ichthyosis Associate 36303457
Agnathia microstomia synotia Associate 33476040
Albuminuria Associate 31769495
Arthritis Rheumatoid Associate 17124250, 19279017
Breast Neoplasms Associate 15987446
Carcinoma Non Small Cell Lung Associate 29062084
Chemke Oliver Mallek syndrome Associate 38038886
Colorectal Neoplasms Associate 36303457
Diabetes Mellitus Type 1 Associate 36303457
Distal myopathy Nonaka type Associate 32295525