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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3914
Gene name Gene Name - the full gene name approved by the HGNC.	Laminin subunit beta 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LAMB3
Synonyms (NCBI Gene) Gene synonyms aliases	AI1A, BM600-125KDA, JEB1A, JEB1B, LAM5, LAMNB1
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q32.2
Summary Summary of gene provided in NCBI Entrez Gene.	The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bul

Show/Hide all(77)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356680	G>A	Pathogenic	Coding sequence variant, stop gained
rs80356681	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs80356682	G>A	Pathogenic	Coding sequence variant, stop gained
rs121912482	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912483	G>A,C	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs121912484	C>T	Pathogenic	Stop gained, coding sequence variant
rs121912485	G>A	Pathogenic	Stop gained, coding sequence variant
rs121912486	C>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121912487	T>G	Pathogenic	Missense variant, coding sequence variant
rs200672750	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs201551805	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs370148688	T>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs371267954	T>C	Likely-pathogenic	Splice acceptor variant
rs587776812	C>T	Likely-benign, pathogenic	Intron variant
rs587776813	A>G	Pathogenic	Intron variant
rs587776814	C>T	Pathogenic	Splice acceptor variant
rs747916314	G>A	Pathogenic	Stop gained, coding sequence variant
rs753711190	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs759518184	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs763559509	G>-	Likely-pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs769151482	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs769967565	TG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs770302956	C>T	Pathogenic, likely-pathogenic	Intron variant
rs772421306	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs774174881	A>C	Pathogenic	Coding sequence variant, stop gained
rs774472247	C>T	Likely-pathogenic	Splice acceptor variant
rs776537364	->A	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, intron variant
rs777292177	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs777672897	->G	Pathogenic	Coding sequence variant, frameshift variant
rs778372285	C>A	Likely-pathogenic	Splice acceptor variant
rs786201004	->C	Pathogenic	Coding sequence variant, frameshift variant
rs786205094	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205095	ACACG>-	Pathogenic	Coding sequence variant, frameshift variant
rs869320671	G>T	Pathogenic	Coding sequence variant, stop gained
rs886045870	TG>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516219	->C	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1057516241	CT>-	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516249	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516316	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516399	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1057516400	AC>-	Likely-pathogenic	Frameshift variant, stop lost, terminator codon variant
rs1057516539	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs1057516675	A>C	Likely-pathogenic	Splice donor variant
rs1057516693	C>A	Likely-pathogenic	Splice acceptor variant
rs1057516756	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516759	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516809	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516884	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516947	C>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057517096	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1057517258	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1057517290	->AC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517312	A>G	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1057517395	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064793896	G>A	Pathogenic	Stop gained, coding sequence variant
rs1085307994	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1186161867	C>A,T	Likely-pathogenic	Splice donor variant
rs1418276828	C>T	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1464038626	A>G,T	Likely-pathogenic	Splice donor variant
rs1553275034	CCAGTCCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553275070	C>T	Pathogenic	Splice acceptor variant
rs1553275195	C>A	Pathogenic	Coding sequence variant, stop gained
rs1553275219	TT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553276110	C>T	Likely-pathogenic	Splice donor variant
rs1553277072	C>A	Likely-pathogenic	Splice donor variant
rs1553277267	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553277432	CCTACTCACGGTGGCAGCCC>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1553277686	CA>-	Likely-pathogenic	Coding sequence variant, inframe indel, stop gained
rs1553277702	->TTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCC	Pathogenic	Frameshift variant, coding sequence variant
rs1553279044	C>G,T	Likely-pathogenic	Splice donor variant
rs1553279073	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553281291	A>C,G	Likely-pathogenic	Splice donor variant
rs1553281335	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1558148080	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1558163550	C>T	Pathogenic	Stop gained, coding sequence variant
rs1571796718	C>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1571803654	TTAGGAAGTCCCGGACCTG>-	Likely-pathogenic	Splice donor variant, coding sequence variant

Show/Hide all(13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001062	hsa-miR-218-5p	qRT-PCR, Western blot, Northern blot	17998940
MIRT001062	hsa-miR-218-5p	Luciferase reporter assay	17998940
MIRT023092	hsa-miR-124-3p	Microarray	18668037
MIRT031939	hsa-miR-16-5p	Proteomics	18668040
MIRT001062	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	23483249
MIRT001062	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	23159910
MIRT736577	hsa-miR-24-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	32039003
MIRT1103274	hsa-miR-2053	CLIP-seq
MIRT1103275	hsa-miR-499-3p	CLIP-seq
MIRT1103276	hsa-miR-499a-3p	CLIP-seq
MIRT1103277	hsa-miR-579	CLIP-seq
MIRT2028231	hsa-miR-24	CLIP-seq
MIRT2452856	hsa-miR-4484	CLIP-seq

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	NAS	7550320
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005515	Function	Protein binding	IPI	19275936
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005610	Component	Laminin-5 complex	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0008544	Process	Epidermis development	TAS	7774918
GO:0030154	Process	Cell differentiation	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0050873	Process	Brown fat cell differentiation	IEA

MIM	HGNC	e!Ensembl
150310	6490	ENSG00000196878

Protein

UniProt ID

Q13751

Protein name

Laminin subunit beta-3 (Epiligrin subunit bata) (Kalinin B1 chain) (Kalinin subunit beta) (Laminin B1k chain) (Laminin-5 subunit beta) (Nicein subunit beta)

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	26 → 248	Laminin N-terminal (Domain VI)	Family
PF00053	Laminin_EGF	250 → 313	Laminin EGF domain	Domain
PF00053	Laminin_EGF	316 → 376	Laminin EGF domain	Domain
PF00053	Laminin_EGF	379 → 428	Laminin EGF domain	Domain
PF00053	Laminin_EGF	431 → 478	Laminin EGF domain	Domain
PF00053	Laminin_EGF	481 → 531	Laminin EGF domain	Domain
PF00053	Laminin_EGF	534 → 588	Laminin EGF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Found in the basement membranes (major component).

Sequence

MRPFFLLCFALPGLLHAQQACSRGACYPPVGDLLVGRTRFLRASSTCGLTKPETYCTQYG
EWQMKCCKCDSRQPHNYYSHRVENVASSSGPMRWWQSQNDVNPVSLQLDLDRRFQLQEVM
MEFQGPMPAGMLIERSSDFGKTWRVYQYLAADCTSTFPRVRQGRPQSWQDVRCQSLPQRP
NARLNGGKVQLNLMDLVSGIPATQSQKIQEVGEITNLRVNFTRLAPVPQRGYHPPSAYYA
VSQLRLQGSCFCHGHADRCAPKPGASAGPSTAVQVHDVCVCQHNTAGPNCERCAPFYNNR
PWRPAEGQDAHECQRCDCNGHSETCHFDPAVFAASQGAYGGVCDNCRDHTEGKNCERCQL
HYFRNRRPGASIQETCISCECDPDGAVPGAPCDPVTGQCVCKEHVQGERCDLCKPGFTGL
TYANPQGCHRCDCNILGSRRDMPCDEESGRCLCLPNVVGPKCDQCAPYHWKLASGQGCEP
CACDPHNSLSPQCNQFTGQCPCREGFGGLMCSAAAIRQCPDRTYGDVATGCRACDCDFRG
TEGPGCDKASGRCLCRPGLTGPRCDQCQRGYCNRYPVCVACHPCFQTYDADLREQALRFG
RLRNATASLWSGPGLEDRGLASRILDAKSKIEQIRAVLSSPAVTEQEVAQVASAILSLRR
TLQGLQLDLPLEEETLSLPRDLESLDRSFNGLLTMYQRKREQFEKISSADPSGAFRMLST
AYEQSAQAAQQVSDSSRLLDQLRDSRREAERLVRQAGGGGGTGSPKLVALRLEMSSLPDL
TPTFNKLCGNSRQMACTPISCPGELCPQDNGTACGSRCRGVLPRAGGAFLMAGQVAEQLR
GFNAQLQRTRQMIRAAEESASQIQSSAQRLETQVSASRSQMEEDVRRTRLLIQQVRDFLT
DPDTDAATIQEVSEAVLALWLPTDSATVLQKMNEIQAIAARLPNVDLVLSQTKQDIARAR
RLQAEAEEARSRAHAVEGQVEDVVGNLRQGTVALQEAQDTMQGTSRSLRLIQDRVAEVQQ
VLRPAEKLVTSMTKQLGDFWTRMEELRHQARQQGAEAVQAQQLAEGASEQALSAQEGFER
IKQKYAELKDRLGQSSMLGEQGARIQSVKTEAEELFGETMEMMDRMKDMELELLRGSQAI
MLRSADLTGLEKRVEQIRDHINGRVLYYATCK

Sequence length

1172

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		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

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Amelogenesis imperfecta	Amelogenesis imperfecta type 1A	rs1553275070, rs1553275195, rs1553275034, rs869320671, rs786201004	N/A
Epidermolysis Bullosa	Junctional epidermolysis bullosa, non-Herlitz type	rs80356680, rs772421306, rs587776813, rs777672897, rs201551805, rs786205094, rs121912487, rs121912482, rs587776814, rs769967565, rs1057517096, rs786205095, rs80356682, rs1553281335, rs1553277702	N/A
Junctional Epidermolysis Bullosa	junctional epidermolysis bullosa	rs769151482, rs1057516539, rs1571803654, rs1057517096, rs121912482, rs1064793896, rs370148688, rs778026407, rs1057516759, rs747916314, rs80356681, rs1418276828, rs770302956, rs759518184, rs786205095, rs80356682 View all (1 more)	N/A
junctional epidermolysis bullosa gravis of herlitz	Junctional epidermolysis bullosa gravis of Herlitz	rs1178041263, rs1057516822, rs1553275219, rs777672897, rs201551805, rs886045870, rs1553279044, rs1057516219, rs753711190, rs1057516693, rs763559509, rs1553279073, rs1057517096, rs769967565, rs1553276110 View all (53 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
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.
autism	Autism	N/A	N/A	ClinVar
Neuroblastoma	Neuroblastoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	22898004
Adenocarcinoma in Situ	Associate	22898004
Amelogenesis Imperfecta	Associate	23632796, 23958762, 25769099, 30120606, 30905256
Amelogenesis imperfecta local hypoplastic form	Associate	23632796, 25769099, 30046887, 30120606
Anemia Aplastic	Associate	30905256
Anodontia	Associate	15373767, 30046887
Asthma	Associate	34456632
Blister	Associate	35178765
Breast Neoplasms	Associate	39300389, 39340434
Carcinoma Lobular	Associate	27078887
Carcinoma Pancreatic Ductal	Associate	32005189, 34007003
Carcinoma Squamous Cell	Associate	16358814
Central Serous Chorioretinopathy	Associate	31036833
Cholangiocarcinoma	Stimulate	38114514
Colorectal Neoplasms	Associate	37086961
Congenital thrombotic disease due to Protein C deficiency	Associate	35428170
Corneal Diseases	Associate	34064633
Cystic Fibrosis	Associate	30598261
Dental Enamel Hypoplasia	Associate	23958762
Dental Plaque	Stimulate	39201392
Developmental Defects of Enamel	Associate	23632796, 23958762, 25769099
Down Syndrome	Associate	21856934
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	30905256, 34064633
Endometriosis	Associate	39408909
Epidermolysis Bullosa	Associate	11023379, 17476356, 20574443, 30544381, 33921969, 36578049
Epidermolysis Bullosa Junctional	Associate	10469327, 10577906, 10951252, 11023379, 11296269, 11564184, 15311214, 15373767, 17476356, 23632796, 23958762, 25363238, 25769099, 27120332, 27375110 View all (18 more)
Epidermolysis Bullosa Junctional Non Herlitz Type	Associate	9242513
Epidermolysis Bullosa Pruriginosa	Associate	36578049
Epidermolysis Bullosa Simplex	Associate	33921969
Esophageal Squamous Cell Carcinoma	Associate	39256753
Genetic Predisposition to Disease	Associate	9242513
Glomerulosclerosis Focal Segmental	Associate	29138824
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35893033
Hyperplasia	Associate	22898004
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	34064633
Lung Diseases	Associate	35178765
Lung Injury	Associate	35178765
Lung Neoplasms	Associate	27698189, 36380607
Lymphatic Metastasis	Associate	23778407
Lymphoma	Associate	34166375
Nasopharyngeal Carcinoma	Associate	18570662
Nasopharyngeal Carcinoma	Stimulate	36947579
Neoplasm Invasiveness	Associate	22898004
Neoplasm Metastasis	Associate	32298965
Neoplasms	Associate	18570662, 22539223, 22898004, 23159910, 23829659, 27698189, 29426928, 32298965, 32364250, 36311789, 36947579
Osteogenesis Imperfecta	Associate	35052464
Ovarian Neoplasms	Associate	34512203
Pain	Associate	26566055, 34064633
Pancreatic Neoplasms	Associate	32005189, 32235821, 34007003, 36311789
Pancreatic Neoplasms	Stimulate	35428170
Pemphigoid Bullous	Associate	36430582
Pneumonia Ventilator Associated	Associate	32031163
Prostatic Neoplasms	Associate	23778407
Pulmonary Disease Chronic Obstructive	Associate	38286613
Stomach Neoplasms	Associate	8780383
Thyroid Cancer Papillary	Stimulate	29426928
Thyroid Cancer Papillary	Associate	39205691
Uniparental Disomy	Associate	9326326
Uniparental disomy of 13	Associate	9579554
Urinary Bladder Neoplasms	Associate	26800519, 37694778
Uterine Cervical Neoplasms	Associate	36305754
Uterine Cervicitis	Stimulate	23483249

LAMB3 (laminin subunit beta 3)