Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3918
Gene name Gene Name - the full gene name approved by the HGNC.
Laminin subunit gamma 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LAMC2
Synonyms (NCBI Gene) Gene synonyms aliases
B2T, BM600, CSF, EBR2, EBR2A, JEB3A, JEB3B, LAMB2T, LAMNB2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.3
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.
SNP ID Visualize variation Clinical significance Consequence
rs80356683 C>T Pathogenic Coding sequence variant, stop gained
rs118203899 C>G,T Likely-pathogenic Stop gained, synonymous variant, coding sequence variant
rs118203900 C>A Pathogenic Stop gained, coding sequence variant
rs118203901 C>T Likely-pathogenic, pathogenic Stop gained, coding sequence variant
rs141812464 G>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002944 hsa-miR-199b-5p Luciferase reporter assay 15131085
MIRT019261 hsa-miR-148b-3p Microarray 17612493
MIRT025668 hsa-miR-7-5p Microarray 19073608
MIRT437368 hsa-miR-29a-3p Luciferase reporter assay, qRT-PCR, Western blot 24091622
MIRT437368 hsa-miR-29a-3p Luciferase reporter assay, qRT-PCR, Western blot 24091622
Transcription factors
Transcription factor Regulation Reference
ZEB1 Unknown 20729552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent RCA 25037231, 28675934
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005604 Component Basement membrane IEA
GO:0005607 Component Laminin-2 complex IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
150292 6493 ENSG00000058085
Protein
UniProt ID Q13753
Protein name Laminin subunit gamma-2 (Cell-scattering factor 140 kDa subunit) (CSF 140 kDa subunit) (Epiligrin subunit gamma) (Kalinin subunit gamma) (Kalinin/nicein/epiligrin 100 kDa subunit) (Ladsin 140 kDa subunit) (Laminin B2t chain) (Laminin-5 subunit gamma) (Lar
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. Ladsin exerts c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00053 Laminin_EGF 28 81 Laminin EGF domain Domain
PF00053 Laminin_EGF 84 130 Laminin EGF domain Domain
PF00053 Laminin_EGF 139 184 Laminin EGF domain Domain
PF00052 Laminin_B 250 380 Laminin B (Domain IV) Family
PF00053 Laminin_EGF 376 413 Laminin EGF domain Domain
PF00053 Laminin_EGF 462 514 Laminin EGF domain Domain
PF00053 Laminin_EGF 517 570 Laminin EGF domain Domain
PF00053 Laminin_EGF 573 617 Laminin EGF domain Domain
Tissue specificity TISSUE SPECIFICITY: The large variant is expressed only in specific epithelial cells of embryonic and neonatal tissues. In 17-week old embryo the small variant is found in cerebral cortex, lung, and distal tubes of kidney, but not in epithelia except for
Sequence
MPALWLGCCLCFSLLLPAARATSRREVCDCNGKSRQCIFDRELHRQTGNGFRCLNCNDNT
DGIHCEKCKNGFYRHRERDRC
LPCNCNSKGSLSARCDNSGRCSCKPGVTGARCDRCLPGF
HMLTDAGCTQ
DQRLLDSKCDCDPAGIAGPCDAGRCVCKPAVTGERCDRCRSGYYNLDGGN
PEGC
TQCFCYGHSASCRSSAEYSVHKITSTFHQDVDGWKAVQRNGSPAKLQWSQRHQDVF
SSAQRLDPVYFVAPAKFLGNQQVSYGQSLSFDYRVDRGGRHPSAHDVILEGAGLRITAPL
MPLGKTLPCGLTKTYTFRLNEHPSNNWSPQLSYFEYRRLLRNLTALRIRATYGEYSTGYI
DNVTLISARPVSGAP
APWVEQCICPVGYKGQFCQDCASGYKRDSARLGPFGTCIPCNCQG
GGACDPDTGDCYSGDENPDIECADCPIGFYNDPHDPRSCKPCPCHNGFSCSVMPETEEVV
CNNCPPGVTGARCELCADGYFGDPFGEHGPVRPC
QPCQCNNNVDPSASGNCDRLTGRCLK
CIHNTAGIYCDQCKAGYFGDPLAPNPADKC
RACNCNPMGSEPVGCRSDGTCVCKPGFGGP
NCEHGAFSCPACYNQVK
IQMDQFMQQLQRMEALISKAQGGDGVVPDTELEGRMQQAEQAL
QDILRDAQISEGASRSLGLQLAKVRSQENSYQSRLDDLKMTVERVRALGSQYQNRVRDTH
RLITQMQLSLAESEASLGNTNIPASDHYVGPNGFKSLAQEATRLAESHVESASNMEQLTR
ETEDYSKQALSLVRKALHEGVGSGSGSPDGAVVQGLVEKLEKTKSLAQQLTREATQAEIE
ADRSYQHSLRLLDSVSRLQGVSDQSFQVEEAKRIKQKADSLSSLVTRHMDEFKRTQKNLG
NWKEEAQQLLQNGKSGREKSDQLLSRANLAKSRAQEALSMGNATFYEVESILKNLREFDL
QVDNRKAEAEEAMKRLSYISQKVSDASDKTQQAERALGSAAADAQRAKNGAGEALEISSE
IEQEIGSLNLEANVTADGALAMEKGLASLKSEMREVEGELERKELEFDTNMDAVQMVITE
AQKVDTRAKNAGVTIQDTLNTLDGLLHLMDQPLSVDEEGLVLLEQKLSRAKTQINSQLRP
MMSELEERARQQRGHLHLLETSIDGILADVKNLENIRDNLPPGCYNTQALEQQ
Sequence length 1193
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer
  Degradation of the extracellular matrix
Assembly of collagen fibrils and other multimeric structures
Anchoring fibril formation
Laminin interactions
Type I hemidesmosome assembly
MET activates PTK2 signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Epidermolysis Bullosa Epidermolysis bullosa, junctional 3B, severe, Epidermolysis bullosa, junctional 3A, intermediate, Junctional epidermolysis bullosa, non-Herlitz type rs118203900, rs1558095794, rs761388039, rs118203901, rs1558088792, rs1558092501, rs201307156, rs80356683, rs118203899 N/A
Junctional Epidermolysis Bullosa junctional epidermolysis bullosa rs1558092158, rs118203901, rs774734592, rs1553266871, rs201307156, rs778012079 N/A
junctional epidermolysis bullosa gravis of herlitz Junctional epidermolysis bullosa gravis of Herlitz rs1553266052, rs1553267638, rs1057516410, rs1057516383, rs1553267870, rs1553266671, rs1553265794, rs745512079, rs1057516727, rs1553267345, rs1553267882, rs1057516444, rs1057516935, rs1553267554, rs1043996591
View all (33 more)
N/A
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
Acne acne vulgaris N/A N/A GWAS
Amelogenesis imperfecta Amelogenesis imperfecta type 1 N/A N/A ClinVar
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anodontia Associate 15373767
Biliary Atresia Associate 40366121
Biliary Fistula Associate 15105812
Blister Associate 11564184, 8618020
Carcinogenesis Associate 18559558
Carcinogenesis Inhibit 35699794
Carcinoma Hepatocellular Associate 28418226, 32280695
Carcinoma Pancreatic Ductal Associate 11920553, 31182680, 31731384, 32005189, 33607476, 33624791, 34007003, 35180880, 35699794
Carcinoma Pancreatic Ductal Stimulate 23798558
Carcinoma Squamous Cell Associate 22546478, 24205356