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.	3911
Gene name Gene Name - the full gene name approved by the HGNC.	Laminin subunit alpha 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LAMA5
Synonyms (NCBI Gene) Gene synonyms aliases	BBDS2, NPHS26
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q13.33
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes one of the vertebrate laminin alpha chains. 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 inc

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200093098	G>A	Likely-pathogenic, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs370433088	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs756101090	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs773956500	T>C,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all(25)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018825	hsa-miR-335-5p	Microarray	18185580
MIRT044619	hsa-miR-320a	CLASH	23622248
MIRT491184	hsa-miR-1205	PAR-CLIP	23592263
MIRT491182	hsa-miR-1827	PAR-CLIP	23592263
MIRT491181	hsa-miR-6132	PAR-CLIP	23592263
MIRT491180	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT491179	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT491178	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT491177	hsa-miR-2861	PAR-CLIP	23592263
MIRT491176	hsa-miR-4316	PAR-CLIP	23592263
MIRT491175	hsa-miR-1294	PAR-CLIP	23592263
MIRT491184	hsa-miR-1205	PAR-CLIP	23592263
MIRT491182	hsa-miR-1827	PAR-CLIP	23592263
MIRT491181	hsa-miR-6132	PAR-CLIP	23592263
MIRT491180	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT491179	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT491178	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT491177	hsa-miR-2861	PAR-CLIP	23592263
MIRT491176	hsa-miR-4316	PAR-CLIP	23592263
MIRT491175	hsa-miR-1294	PAR-CLIP	23592263
MIRT1103269	hsa-miR-3180	CLIP-seq
MIRT1103270	hsa-miR-3180-3p	CLIP-seq
MIRT1103271	hsa-miR-3196	CLIP-seq
MIRT1103272	hsa-miR-3197	CLIP-seq
MIRT1103273	hsa-miR-4457	CLIP-seq

Show/Hide all(57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001738	Process	Morphogenesis of a polarized epithelium	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005178	Function	Integrin binding	IDA	11821406
GO:0005178	Function	Integrin binding	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 27068509, 27559042, 28675934
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	14557481
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	11821406
GO:0005610	Component	Laminin-5 complex	IEA
GO:0005615	Component	Extracellular space	IDA	10964500
GO:0005634	Component	Nucleus	HDA	21630459
GO:0007155	Process	Cell adhesion	IDA	15975931
GO:0007155	Process	Cell adhesion	IDA	15975931
GO:0007155	Process	Cell adhesion	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	11821406
GO:0007517	Process	Muscle organ development	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0016477	Process	Cell migration	IDA	11821406
GO:0016477	Process	Cell migration	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030324	Process	Lung development	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27068509, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IDA	16236823
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IEA
GO:0036484	Process	Trunk neural crest cell migration	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0043083	Component	Synaptic cleft	IEA
GO:0043259	Component	Laminin-10 complex	IDA	10964500
GO:0043259	Component	Laminin-10 complex	IEA
GO:0043259	Component	Laminin-10 complex	TAS	16236823
GO:0043260	Component	Laminin-11 complex	TAS	16236823
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0048018	Function	Receptor ligand activity	IDA	15975931
GO:0048705	Process	Skeletal system morphogenesis	IMP	33242826
GO:0048731	Process	System development	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0098631	Function	Cell adhesion mediator activity	IDA	15975931
GO:0098965	Component	Extracellular matrix of synaptic cleft	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099173	Process	Postsynapse organization	IEA

MIM	HGNC	e!Ensembl
601033	6485	ENSG00000130702

Protein

UniProt ID

O15230

Protein name

Laminin subunit alpha-5 (Laminin-10 subunit alpha) (Laminin-11 subunit alpha) (Laminin-15 subunit alpha)

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. Plays a role in

PDB

5XAU , 7CEC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00055	Laminin_N	45 → 298	Laminin N-terminal (Domain VI)	Family
PF00053	Laminin_EGF	300 → 356	Laminin EGF domain	Domain
PF00053	Laminin_EGF	359 → 426	Laminin EGF domain	Domain
PF00053	Laminin_EGF	429 → 478	Laminin EGF domain	Domain
PF00053	Laminin_EGF	494 → 539	Laminin EGF domain	Domain
PF00053	Laminin_EGF	541 → 585	Laminin EGF domain	Domain
PF00053	Laminin_EGF	587 → 631	Laminin EGF domain	Domain
PF00053	Laminin_EGF	632 → 676	Laminin EGF domain	Domain
PF00053	Laminin_EGF	677 → 725	Laminin EGF domain	Domain
PF00053	Laminin_EGF	720 → 773	Laminin EGF domain	Domain
PF00053	Laminin_EGF	776 → 826	Laminin EGF domain	Domain
PF00053	Laminin_EGF	829 → 872	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1438 → 1486	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1528 → 1576	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1577 → 1625	Laminin EGF domain	Domain
PF00052	Laminin_B	1693 → 1829	Laminin B (Domain IV)	Family
PF00053	Laminin_EGF	1825 → 1859	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1864 → 1910	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1913 → 1966	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1969 → 2020	Laminin EGF domain	Domain
PF00053	Laminin_EGF	2023 → 2067	Laminin EGF domain	Domain
PF00053	Laminin_EGF	2070 → 2119	Laminin EGF domain	Domain
PF00053	Laminin_EGF	2114 → 2153	Laminin EGF domain	Domain
PF06008	Laminin_I	2192 → 2451	Laminin Domain I	Coiled-coil
PF06009	Laminin_II	2632 → 2762	Laminin Domain II	Coiled-coil
PF02210	Laminin_G_2	2777 → 2908	Laminin G domain	Domain
PF02210	Laminin_G_2	2970 → 3099	Laminin G domain	Domain
PF02210	Laminin_G_2	3370 → 3499	Laminin G domain	Domain
PF02210	Laminin_G_2	3549 → 3673	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart, lung, kidney, skeletal muscle, pancreas, retina and placenta. Little or no expression in brain and liver. Expressed in muscle, ligaments, periosteum, trabecular bone and throughout the cartilage, particularly in the

Sequence

MAKRLCAGSALCVRGPRGPAPLLLVGLALLGAARAREEAGGGFSLHPPYFNLAEGARIAA
SATCGEEAPARGSPRPTEDLYCKLVGGPVAGGDPNQTIRGQYCDICTAANSNKAHPASNA
IDGTERWWQSPPLSRGLEYNEVNVTLDLGQVFHVAYVLIKFANSPRPDLWVLERSMDFGR
TYQPWQFFASSKRDCLERFGPQTLERITRDDAAICTTEYSRIVPLENGEIVVSLVNGRPG
AMNFSYSPLLREFTKATNVRLRFLRTNTLLGHLMGKALRDPTVTRRYYYSIKDISIGGRC
VCHGHADACDAKDPTDPFRLQCTCQHNTCGGTCDRCCPGFNQQPWKPATANSANECQSCN
CYGHATDCYYDPEVDRRRASQSLDGTYQGGGVCIDCQHHTTGVNCERCLPGFYRSPNHPL
DSPHVCRRCNCESDFTDGTCEDLTGRCYCRPNFSGERCDVCAEGFTGFPSCYPTPSSSND
TREQVLPAGQIVNCDCSAAGTQGNACRKDPRVGRCLCKPNFQGTHCELCAPGFYGPGCQP
CQCSSPGVADDRCDPDTGQCRCRVGFEGATCDRCAPGYFHFPLCQLCGCSPAGTLPEGCD
EAGRCLCQPEFAGPHCDRCRPGYHGFPNCQACTCDPRGALDQLCGAGGLCRCRPGYTGTA
CQECSPGFHGFPSCVPCHCSAEGSLHAACDPRSGQCSCRPRVTGLRCDTCVPGAYNFPYC
EAGSCHPAGLAPVDPALPEAQVPCMCRAHVEGPSCDRCKPGFWGLSPSNPEGCTRCSCDL
RGTLGGVAECQPGTGQCFCKPHVCGQACASCKDGFFGLDQADYFGCRSCRCDIGGALGQS
CEPRTGVCRCRPNTQGPTCSEPARDHYLPDLHHLRLELEEAATPEGHAVRFGFNPLEFEN
FSWRGYAQMAPVQPRIVARLNLTSPDLFWLVFRYVNRGAMSVSGRVSVREEGRSATCANC
TAQSQPVAFPPSTEPAFITVPQRGFGEPFVLNPGTWALRVEAEGVLLDYVVLLPSAYYEA
ALLQLRVTEACTYRPSAQQSGDNCLLYTHLPLDGFPSAAGLEALCRQDNSLPRPCPTEQL
SPSHPPLITCTGSDVDVQLQVAVPQPGRYALVVEYANEDARQEVGVAVHTPQRAPQQGLL
SLHPCLYSTLCRGTARDTQDHLAVFHLDSEASVRLTAEQARFFLHGVTLVPIEEFSPEFV
EPRVSCISSHGAFGPNSAACLPSRFPKPPQPIILRDCQVIPLPPGLPLTHAQDLTPAMSP
AGPRPRPPTAVDPDAEPTLLREPQATVVFTTHVPTLGRYAFLLHGYQPAHPTFPVEVLIN
AGRVWQGHANASFCPHGYGCRTLVVCEGQALLDVTHSELTVTVRVPKGRWLWLDYVLVVP
ENVYSFGYLREEPLDKSYDFISHCAAQGYHISPSSSSLFCRNAAASLSLFYNNGARPCGC
HEVGATGPTCEPFGGQCPCHAHVIGRDCSRCATGYWGFPNCRPCDCGARLCDELTGQCIC
PPRTIPPDCLLCQPQTFGCHPLVGCEECNCSGPGIQELTDPTCDTDSGQCKCRPNVTGRR
CDTCSPGFHGYPRCRPCDCHEAGTAPGVCDPLTGQCYCKENVQGPKCDQCSLGTFSLDAA
NPKGCTRCFCFGATERCRSSSYTRQEFVDMEGWVLLSTDRQVVPHERQPGTEMLRADLRH
VPEAVPEAFPELYWQAPPSYLGDRVSSYGGTLRYELHSETQRGDVFVPMESRPDVVLQGN
QMSITFLEPAYPTPGHVHRGQLQLVEGNFRHTETRNTVSREELMMVLASLEQLQIRALFS
QISSAVFLRRVALEVASPAGQGALASNVELCLCPASYRGDSCQECAPGFYRDVKGLFLGR
CVPCQCHGHSDRCLPGSGVCVDCQHNTEGAHCERCQAGFVSSRDDPSAPCVSCPCPLSVP
SNNFAEGCVLRGGRTQCLCKPGYAGASCERCAPGFFGNPLVLGSSCQPCDCSGNGDPNLL
FSDCDPLTGACRGCLRHTTGPRCEICAPGFYGNALLPGNCTRCDCTPCGTEACDPHSGHC
LCKAGVTGRRCDRCQEGHFGFDGCGGCRPCACGPAAEGSECHPQSGQCHCRPGTMGPQCR
ECAPGYWGLPEQGCRRCQCPGGRCDPHTGRCNCPPGLSGERCDTCSQQHQVPVPGGPVGH
SIHCEVCDHCVVLLLDDLERAGALLPAIHEQLRGINASSMAWARLHRLNASIADLQSQLR
SPLGPRHETAQQLEVLEQQSTSLGQDARRLGGQAVGTRDQASQLLAGTEATLGHAKTLLA
AIRAVDRTLSELMSQTGHLGLANASAPSGEQLLRTLAEVERLLWEMRARDLGAPQAAAEA
ELAAAQRLLARVQEQLSSLWEENQALATQTRDRLAQHEAGLMDLREALNRAVDATREAQE
LNSRNQERLEEALQRKQELSRDNATLQATLHAARDTLASVFRLLHSLDQAKEELERLAAS
LDGARTPLLQRMQTFSPAGSKLRLVEAAEAHAQQLGQLALNLSSIILDVNQDRLTQRAIE
ASNAYSRILQAVQAAEDAAGQALQQADHTWATVVRQGLVDRAQQLLANSTALEEAMLQEQ
QRLGLVWAALQGARTQLRDVRAKKDQLEAHIQAAQAMLAMDTDETSKKIAHAKAVAAEAQ
DTATRVQSQLQAMQENVERWQGQYEGLRGQDLGQAVLDAGHSVSTLEKTLPQLLAKLSIL
ENRGVHNASLALSASIGRVRELIAQARGAASKVKVPMKFNGRSGVQLRTPRDLADLAAYT
ALKFYLQGPEPEPGQGTEDRFVMYMGSRQATGDYMGVSLRDKKVHWVYQLGEAGPAVLSI
DEDIGEQFAAVSLDRTLQFGHMSVTVERQMIQETKGDTVAPGAEGLLNLRPDDFVFYVGG
YPSTFTPPPLLRFPGYRGCIEMDTLNEEVVSLYNFERTFQLDTAVDRPCARSKSTGDPWL
TDGSYLDGTGFARISFDSQISTTKRFEQELRLVSYSGVLFFLKQQSQFLCLAVQEGSLVL
LYDFGAGLKKAVPLQPPPPLTSASKAIQVFLLGGSRKRVLVRVERATVYSVEQDNDLELA
DAYYLGGVPPDQLPPSLRRLFPTGGSVRGCVKGIKALGKYVDLKRLNTTGVSAGCTADLL
VGRAMTFHGHGFLRLALSNVAPLTGNVYSGFGFHSAQDSALLYYRASPDGLCQVSLQQGR
VSLQLLRTEVKTQAGFADGAPHYVAFYSNATGVWLYVDDQLQQMKPHRGPPPELQPQPEG
PPRLLLGGLPESGTIYNFSGCISNVFVQRLLGPQRVFDLQQNLGSVNVSTGCAPALQAQT
PGLGPRGLQATARKASRRSRQPARHPACMLPPHLRTTRDSYQFGGSLSSHLEFVGILARH
RNWPSLSMHVLPRSSRGLLLFTARLRPGSPSLALFLSNGHFVAQMEGLGTRLRAQSRQRS
RPGRWHKVSVRWEKNRILLVTDGARAWSQEGPHRQHQGAEHPQPHTLFVGGLPASSHSSK
LPVTVGFSGCVKRLRLHGRPLGAPTRMAGVTPCILGPLEAGLFFPGSGGVITLDLPGATL
PDVGLELEVRPLAVTGLIFHLGQARTPPYLQLQVTEKQVLLRADDGAGEFSTSVTRPSVL
CDGQWHRLAVMKSGNVLRLEVDAQSNHTVGPLLAAAAGAPAPLYLGGLPEPMAVQPWPPA
YCGCMRRLAVNRSPVAMTRSVEVHGAVGASGCPAA

Sequence length

3695

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 Interleukin-4 and Interleukin-13 signaling MET activates PTK2 signaling

Show/Hide Unknown Diseases (8)

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.
Colorectal Cancer	Colorectal cancer, ICD10 C18, C19, C20: colorectal cancer, Early onset colorectal cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Hematuria	familial hematuria	N/A	N/A	ClinVar
Insomnia	Insomnia	N/A	N/A	GWAS
Myasthenic Syndrome	Presynaptic congenital myasthenic syndrome	N/A	N/A	ClinVar
Nephrotic Syndrome	Nephrotic syndrome, IIa 26, nephrotic syndrome, nephrotic syndrome, IIa 26	N/A	N/A	ClinVar, GenCC
Pelvic Organ Prolapse	Pelvic organ prolapse	N/A	N/A	GWAS
Polymicrogyria	polymicrogyria	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	32170005
Andersen Syndrome	Associate	30808327
Anemia Sickle Cell	Associate	24655501
Bone Diseases Developmental	Associate	33242826
Breast Neoplasms	Associate	23981902
Carcinoma Pancreatic Ductal	Stimulate	35241737
Carcinoma Renal Cell	Associate	33425212
Cholangiocarcinoma	Stimulate	38114514
Colorectal Neoplasms	Associate	20972440, 22999960, 29119627, 29504916, 32170005, 33058866, 38581999
Cysts	Associate	29764427
Dupuytren Contracture	Stimulate	26018562
Endometriosis	Associate	30044155
Esophageal Squamous Cell Carcinoma	Associate	31345182
Glomerulonephritis Membranous	Associate	38115247
Glomerulosclerosis Focal Segmental	Associate	29764427
Growth Disorders	Associate	30809043
Hematuria	Associate	29534211, 29764427
Hematuria Benign Familial	Associate	29764427
Inflammatory Bowel Diseases	Associate	32764209
Kidney Diseases	Associate	29764427
Kidney Failure Chronic	Associate	29764427
Kidney Neoplasms	Associate	29764427
Malignant hyperthermia susceptibility type 1	Associate	29764427
Multiple Myeloma	Associate	29459023
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	33242826
Neoplasms	Associate	35241737
Nephritis Hereditary	Associate	29764427, 30808327
Nephrosis congenital	Associate	35419533
Nephrotic Syndrome	Associate	29534211, 35419533
Neuroblastoma	Associate	32599975
Ovarian Neoplasms	Associate	34512203
Plaque Atherosclerotic	Inhibit	36996622
Proteinuria	Associate	29534211, 29764427, 35419533
Rectal Neoplasms	Associate	29119627

LAMA5 (laminin subunit alpha 5)