Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3913
Gene name	Laminin subunit beta 2
Gene symbol	LAMB2
Synonyms (NCBI Gene)	LAMSNPHS5PIERS
Chromosome	3
Chromosome location	3p21.31
Summary	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

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
rs142402808	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144133177	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144765752	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs267607207	G>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs267607208	G>A	Pathogenic	Coding sequence variant, missense variant
rs387906644	T>C	Pathogenic	Missense variant, coding sequence variant
rs730880125	G>A	Pathogenic	Stop gained, coding sequence variant
rs745926869	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs746230397	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs779317615	C>G,T	Likely-pathogenic	Splice donor variant
rs786205643	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs888830612	C>A,T	Likely-pathogenic	Splice donor variant
rs1131690793	C>G	Pathogenic	Splice acceptor variant
rs1131690794	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1330915067	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1374167547	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1560072794	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560075787	C>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042683	hsa-miR-196b-5p	CLASH	23622248
MIRT042388	hsa-miR-484	CLASH	23622248

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
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	2099832, 10964500, 14557481
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	1678389
GO:0005604	Component	Basement membrane	TAS	7698745
GO:0005608	Component	Laminin-3 complex	IEA
GO:0005608	Component	Laminin-3 complex	IPI	10964500
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007601	Process	Visual perception	IEA
GO:0014002	Process	Astrocyte development	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27068509, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031175	Process	Neuron projection development	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0043083	Component	Synaptic cleft	IEA
GO:0043256	Component	Laminin complex	IEA
GO:0043260	Component	Laminin-11 complex	TAS	16236823
GO:0045202	Component	Synapse	IEA
GO:0045785	Process	Positive regulation of cell adhesion	NAS	3794389
GO:0048677	Process	Axon extension involved in regeneration	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	NAS	26555376
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0072249	Process	Metanephric podocyte development	IEA
GO:0072274	Process	Metanephric glomerular basement membrane development	IEA
GO:0098637	Component	Protein complex involved in cell-matrix adhesion	NAS	3109910
GO:0110011	Process	Regulation of basement membrane organization	NAS	2119632
GO:0150043	Function	Structural constituent of synapse-associated extracellular matrix	IEA
GO:2001046	Process	Positive regulation of integrin-mediated signaling pathway	NAS	23948589

MIM	HGNC	e!Ensembl
150325	6487	ENSG00000172037

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

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital myasthenic syndrome	Pathogenic	rs1218889239	RCV005863397	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney disorder	Likely pathogenic; Pathogenic	rs2472543506	RCV002294679	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LAMB2-related disorder	Pathogenic; Likely pathogenic	rs754597019, rs760355583, rs2472510703, rs969481454	RCV003407804 RCV003417049 RCV003420884 RCV003413855	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LAMB2-related infantile-onset nephrotic syndrome	Pathogenic; Likely pathogenic	rs376983109, rs140068188, rs888830612, rs1377725272, rs2107643346, rs1170845795, rs754597019, rs2107638673, rs2107628870, rs750538204, rs1357326383, rs2045374891, rs754137583, rs1560075930, rs1367444910 View all (40 more)	RCV006256927 RCV001335012 RCV006256404 RCV006256895 RCV006256899 View all (50 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome	Pathogenic; Likely pathogenic	rs376983109, rs2045374191, rs776905329, rs755787013, rs2107636063, rs121912488, rs974891221, rs2045394381	RCV001849740 RCV001580293 RCV001849710 RCV001849725 RCV001849734 RCV001849266 RCV001328152 RCV001328155 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1575527152	RCV005930674	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pierson syndrome	Pathogenic; Likely pathogenic	rs376983109, rs140068188, rs888830612, rs1377725272, rs2107643346, rs2045374191, rs1170845795, rs754597019, rs2107639217, rs2107645768, rs2107643014, rs750538204, rs1357326383, rs2045374891, rs754137583 View all (43 more)	RCV006256927 RCV006256376 RCV003446734 RCV006256895 RCV006256899 View all (54 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (39)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign; drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign; Likely benign; drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosteroids response	Uncertain significance; drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse mesangial sclerosis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Conflicting classifications of pathogenicity; drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
focal and segmental glomerulosclerosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance; drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY OPEN ANGLE GLAUCOMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

LAMB2 (laminin subunit beta 2)