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

2069

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital myasthenic syndrome	Pathogenic	rs1218889239	RCV005863397
Kidney disorder	Likely pathogenic; Pathogenic	rs2472543506	RCV002294679
LAMB2-related disorder	Pathogenic; Likely pathogenic	rs754597019, rs760355583, rs2472510703, rs969481454	RCV003407804 RCV003417049 RCV003420884 RCV003413855
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 RCV006256918 RCV006256919 RCV001824179 RCV001808199 RCV006257020 RCV006257016 RCV006256957 RCV006256948 RCV006257019 RCV006257021 RCV006255383 RCV006255393 RCV006255602 RCV006255603 RCV006255443 RCV006255451 RCV006255457 RCV006255463 RCV006255541 RCV006255542 RCV006255539 RCV006255540 RCV003333413 RCV003337794 RCV006255894 RCV006255897 RCV006255899 RCV001335017 RCV000735771 RCV000015633 RCV000015635 RCV000015636 RCV000015637 RCV006255963 RCV006255974 RCV006255977 RCV006255969 RCV000022640 RCV006255691 RCV006255701 RCV006255705 RCV006255703 RCV006255730 RCV000786973 RCV006255868 RCV001029900 RCV001029801 RCV006256231 RCV006256239 RCV005863397
Nephrotic syndrome	Pathogenic; Likely pathogenic	rs376983109, rs2045374191, rs776905329, rs755787013, rs2107636063, rs121912488, rs974891221, rs2045394381	RCV001849740 RCV001580293 RCV001849710 RCV001849725 RCV001849734 RCV001849266 RCV001328152 RCV001328155
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1575527152	RCV005930674
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 RCV004017851 RCV006256918 RCV006256919 RCV004764381 RCV001808851 RCV001808932 RCV006257020 RCV006257016 RCV006256957 RCV006256948 RCV006257019 RCV006257021 RCV006255383 RCV006255393 RCV000157282 RCV006255602 RCV006255603 RCV006255443 RCV006255451 RCV006255457 RCV006255463 RCV006255541 RCV006255542 RCV006255539 RCV006255540 RCV003225698 RCV003338013 RCV003388360 RCV003445351 RCV004577607 RCV000015628 RCV000015629 RCV000015630 RCV000015631 RCV000015632 RCV006255317 RCV006255318 RCV006255963 RCV006255974 RCV006255977 RCV006255969 RCV006255320 RCV006255691 RCV006255701 RCV006255705 RCV006255703 RCV006255730 RCV000612771 RCV006255868 RCV006256231 RCV006256239 RCV004769974 RCV005863397 RCV001251186

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs267607208, rs1131690794	-
Acute myeloid leukemia	Benign; Likely benign; drug response	rs35713889, rs143974640, rs138285969	RCV005892566 RCV005897703 RCV005909274
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs61729458	RCV005892575
Atypical hemolytic-uremic syndrome	Conflicting classifications of pathogenicity	rs151251039	RCV002294303
Cervical cancer	Uncertain significance; Benign; Likely benign; drug response	rs757452525, rs61729458, rs144092322, rs143974640, rs146643686, rs138285969	RCV005911065 RCV005892576 RCV005892556 RCV005897705 RCV005909164 RCV005909276
Clear cell carcinoma of kidney	Benign; Likely benign	rs61729458, rs144092322	RCV005892577 RCV005892557
Colon adenocarcinoma	Benign; Likely benign	rs144092322	RCV005892553
Colorectal cancer	Benign	rs35713889	RCV005892569
Corticosteroids response	Uncertain significance; drug response	rs766282298, rs138285969, rs756338774	RCV001261431 RCV001261430 RCV001261432
Diffuse mesangial sclerosis	Uncertain significance	rs376294474	RCV002284210
Familial cancer of breast	Conflicting classifications of pathogenicity; drug response	rs150213016, rs138285969	RCV005896911 RCV005909273
focal and segmental glomerulosclerosis	Uncertain significance	rs150013302, rs376660822	RCV005235603 RCV004820906
Focal segmental glomerulosclerosis	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs138230622, rs749283058, rs2045475783, rs760451762, rs866448113, rs74951356, rs61729458, rs144092322, rs147076626, rs149856537, rs13082063, rs150064487	RCV002294510 RCV002294635 RCV002294636 RCV002294641 RCV000208452 RCV002294130 RCV002294129 RCV002294126 RCV002294125 RCV002294348 RCV002294362 RCV001580281
Gastric cancer	Benign; Likely benign	rs144092322	RCV005892559
Glomerulonephritis	Uncertain significance	rs377526198	RCV001195701
Hepatocellular carcinoma	Uncertain significance; Benign; Likely benign	rs1271143265, rs61729458, rs144092322	RCV005911121 RCV005892574 RCV005892554
Lung cancer	Benign; Likely benign; drug response	rs61729458, rs144092322, rs143974640, rs200141829, rs138285969	RCV005892581 RCV005892564 RCV005897708 RCV005907181 RCV005909278
Lymphoma	Uncertain significance	rs148069401	RCV005896913
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance; drug response	rs144092322, rs143974640, rs148069401, rs138285969	RCV005892555 RCV005897704 RCV005896912 RCV005909275
Melanoma	Benign; Likely benign	rs144092322	RCV005892563
Nonpapillary renal cell carcinoma	Benign	rs35713889	RCV005892567
Sarcoma	Benign; Likely benign	rs61729458, rs35713889, rs144092322	RCV005892578 RCV005892570 RCV005892558
Thymoma	Benign; Likely benign	rs61729458, rs35713889, rs144092322	RCV005892579 RCV005892572 RCV005892561
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs61729458, rs144092322, rs143974640	RCV005892580 RCV005892562 RCV005897707
Uterine carcinosarcoma	Benign; Likely benign	rs35713889, rs143974640	RCV005892571 RCV005897706
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs61729458, rs35713889, rs144092322, rs143974640	RCV005892582 RCV005892573 RCV005892565 RCV005897709
Uveal melanoma	Benign	rs35713889	RCV005892568

Show/Hide Text Mining Associations (65)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Elejalde Disease	Associate	32295525
Epidermolysis Bullosa	Associate	32470267
Eye Abnormalities	Associate	16912710, 28188379, 31769495
Eye Infections	Associate	19251977
Eye Manifestations	Associate	21236492
Galloway Mowat syndrome	Associate	33980730
Gastrointestinal Diseases	Associate	32295525
Genetic Diseases Inborn	Associate	31769495
Glaucoma Neovascular	Associate	36829142
Glaucoma Open Angle	Associate	34143713
Glioblastoma	Associate	15987446, 33694259
Glioma of Brain Familial	Associate	15274074
Glomerulosclerosis Focal Segmental	Associate	29138824
Glycosuria Renal	Associate	27004562
Growth Disorders	Associate	31769495
Hearing Disorders	Associate	28683731
Hematuria	Associate	33476040
Hemorrhoids	Associate	20118558
Hypersensitivity Delayed	Associate	31769495
Hypertensive Retinopathy	Associate	37711606
Hyphema	Associate	36829142
Hypopituitarism	Associate	31769495
Idiopathic Pulmonary Fibrosis	Associate	31426504, 37858084
Immunologic Deficiency Syndromes	Associate	28683731
Infertility	Associate	36303457
Inflammation	Associate	19279017
Iris Diseases	Associate	36829142
Joint Diseases	Associate	32322000
Kashin Beck Disease	Associate	32322000
Kidney Diseases	Associate	27004562, 33476040
Kidney Neoplasms	Associate	38038886
Kidney Tubular Necrosis Acute	Associate	28683731
Melanoma	Associate	36303457
Microcoria congenital	Associate	16912710, 27004562, 28188379, 33476040
Myasthenic Syndromes Congenital	Associate	19251977
Myopia	Associate	28188379
Neoplasm Metastasis	Associate	15987446, 21276136, 22187159
Neoplasms	Associate	21276136, 36303457
Neoplasms	Stimulate	33955587
Nephritis	Associate	33476040
Nephronophthisis familial juvenile	Associate	27004562
Nephrosis congenital	Associate	16912710, 19251977, 27004562, 28188379, 28683731, 31769495, 33476040, 33980730, 37845138, 38146730
Nephrotic Syndrome	Associate	20798252, 21236492, 24742477, 24856380, 26108971, 28188379, 31769495, 33982833, 35920919
Neurologic Manifestations	Associate	28188379, 33476040
Optic Nerve Hypoplasia	Associate	31769495
Ovarian Neoplasms	Associate	20969748
Pierson syndrome	Associate	16912710, 21236492, 27004562, 27130041, 28188379, 31769495, 32295525, 32470267, 33476040, 33982833, 36829142, 38038886
Proteinuria	Associate	31937884, 33476040, 38038886
Renal Insufficiency	Associate	27004562, 28188379
Retinal Diseases	Associate	21236492, 28188379
Thyroid Cancer Papillary	Associate	40157360
Van der Woude syndrome	Associate	2309700
Varicose Veins	Associate	27068509
Vitreous Hemorrhage	Associate	36829142
Vomiting	Associate	32295525

LAMB2 (laminin subunit beta 2)