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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3909
Gene name	Laminin subunit alpha 3
Gene symbol	LAMA3
Synonyms (NCBI Gene)	BM600E170JEB2AJEB2BJEB2CLAMNALOCS
Chromosome	18
Chromosome location	18q11.2
Summary	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation an

Show/Hide all (92)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34754160	->C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs35737354	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs80356678	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs80356679	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs137852757	C>G,T	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs137852758	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs141472847	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs141789403	G>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs147208526	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs199684626	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs571009750	C>A,G,T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs747547191	A>T	Likely-pathogenic	Intron variant, missense variant, genic downstream transcript variant, initiator codon variant
rs752030611	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs754323928	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs754558574	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs765104557	A>G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained, missense variant
rs765943112	T>C,G	Pathogenic	Genic upstream transcript variant, splice donor variant, genic downstream transcript variant
rs768415785	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs772038362	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs774133746	C>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs786204732	T>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs886039412	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs900100444	G>A,C	Likely-pathogenic	Missense variant, stop gained, intron variant, coding sequence variant, genic downstream transcript variant
rs1057516279	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516280	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516475	A>C,G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057516476	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057516512	C>T	Likely-pathogenic	Stop gained, intron variant, genic downstream transcript variant, coding sequence variant
rs1057516584	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516605	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057516688	GC>-	Likely-pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1057516764	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517023	G>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517196	GCTA>CCT	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517211	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517235	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517272	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057517314	->T	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517367	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1057517440	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1085308017	A>T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1131691680	G>C,T	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1158945258	AG>-	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1169182678	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1181742615	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1231716161	A>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1234435123	G>A,C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1296034886	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1303193834	AG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs1356353167	GG>-,G	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1401574168	T>C,G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, stop gained
rs1555720521	T>C	Likely-pathogenic	Intron variant, initiator codon variant, genic downstream transcript variant, missense variant
rs1555721815	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555724066	->G	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555724108	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1555728297	AG>GA	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555728319	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555728701	CCCA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555730209	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555731178	A>-	Pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555732032	C>G	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555732431	TAAG>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555732528	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555732939	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555734356	A>G	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1555734513	A>G	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1555735252	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555736532	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555736608	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555737473	ACAT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555737509	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555737629	GGATCGGGTGAAATTTCAGAGGTACAAGTCTGATTGAC>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, splice donor variant, coding sequence variant, intron variant
rs1555737779	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555740717	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555740945	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555740963	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555743454	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555743457	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555744805	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555744812	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555745207	->C	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555745215	C>-	Pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555745263	->CGGGAGCAAT	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555745317	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555746079	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555751423	T>G	Likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555751482	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555751529	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555754450	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555754655	G>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1599082889	G>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1599181806	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030215	hsa-miR-26b-5p	Microarray	19088304
MIRT047318	hsa-miR-181a-5p	CLASH	23622248
MIRT1103237	hsa-miR-1225-5p	CLIP-seq
MIRT1103238	hsa-miR-1321	CLIP-seq
MIRT1103239	hsa-miR-148a	CLIP-seq
MIRT1103240	hsa-miR-148b	CLIP-seq
MIRT1103241	hsa-miR-152	CLIP-seq
MIRT1103242	hsa-miR-33a	CLIP-seq
MIRT1103243	hsa-miR-33b	CLIP-seq
MIRT1103244	hsa-miR-3689d	CLIP-seq
MIRT1103245	hsa-miR-4419a	CLIP-seq
MIRT1103246	hsa-miR-4510	CLIP-seq
MIRT1103247	hsa-miR-4739	CLIP-seq
MIRT1103248	hsa-miR-4756-5p	CLIP-seq
MIRT1103249	hsa-miR-555	CLIP-seq
MIRT2028224	hsa-miR-4775	CLIP-seq
MIRT2028225	hsa-miR-590-3p	CLIP-seq
MIRT2259382	hsa-miR-520f	CLIP-seq

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Transcription factor	Regulation	Reference
EP300	Repression	10713141
KLF4	Activation	11551969

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005198	Function	Structural molecule activity	NAS	8586427
GO:0005201	Function	Extracellular matrix structural constituent	RCA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	TAS	8586427
GO:0005608	Component	Laminin-3 complex	IEA
GO:0005610	Component	Laminin-5 complex	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005912	Component	Adherens junction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0008544	Process	Epidermis development	TAS	8586427
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0030056	Component	Hemidesmosome	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031012	Component	Extracellular matrix	HDA	27068509
GO:0031581	Process	Hemidesmosome assembly	IEA
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098609	Process	Cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
600805	6483	ENSG00000053747

Q16787

Protein name

Laminin subunit alpha-3 (Epiligrin 170 kDa subunit) (E170) (Epiligrin subunit alpha) (Kalinin subunit alpha) (Laminin-5 subunit alpha) (Laminin-6 subunit alpha) (Laminin-7 subunit alpha) (Nicein 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.; Lami

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00055	Laminin_N	47 → 297	Laminin N-terminal (Domain VI)	Family
PF00053	Laminin_EGF	356 → 423	Laminin EGF domain	Domain
PF00053	Laminin_EGF	426 → 469	Laminin EGF domain	Domain
PF00053	Laminin_EGF	491 → 535	Laminin EGF domain	Domain
PF00053	Laminin_EGF	536 → 586	Laminin EGF domain	Domain
PF00053	Laminin_EGF	578 → 628	Laminin EGF domain	Domain
PF00053	Laminin_EGF	631 → 681	Laminin EGF domain	Domain
PF00053	Laminin_EGF	684 → 729	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1266 → 1314	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1356 → 1404	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1405 → 1453	Laminin EGF domain	Domain
PF00052	Laminin_B	1517 → 1652	Laminin B (Domain IV)	Family
PF00053	Laminin_EGF	1650 → 1684	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1687 → 1731	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1734 → 1784	Laminin EGF domain	Domain
PF06008	Laminin_I	1847 → 2105	Laminin Domain I	Coiled-coil
PF06009	Laminin_II	2288 → 2416	Laminin Domain II	Coiled-coil
PF00054	Laminin_G_1	2431 → 2573	Laminin G domain	Domain
PF02210	Laminin_G_2	2626 → 2745	Laminin G domain	Domain
PF02210	Laminin_G_2	2797 → 2903	Laminin G domain	Domain
PF02210	Laminin_G_2	3016 → 3136	Laminin G domain	Domain
PF02210	Laminin_G_2	3186 → 3311	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Skin; respiratory, urinary, and digestive epithelia and in other specialized tissues with prominent secretory or protective functions. Epithelial basement membrane, and epithelial cell tongue that migrates into a wound bed. A different

Sequence

MAAAARPRGRALGPVLPPTPLLLLVLRVLPACGATARDPGAAAGLSLHPTYFNLAEAARI
WATATCGERGPGEGRPQPELYCKLVGGPTAPGSGHTIQGQFCDYCNSEDPRKAHPVTNAI
DGSERWWQSPPLSSGTQYNRVNLTLDLGQLFHVAYILIKFANSPRPDLWVLERSVDFGST
YSPWQYFAHSKVDCLKEFGREANMAVTRDDDVLCVTEYSRIVPLENGEVVVSLINGRPGA
KNFTFSHTLREFTKATNIRLRFLRTNTLLGHLISKAQRDPTVTRRYYYSIKDISIGGQCV
CNGHAEVCNINNPEKLFRCECQHHTCGETCDRCCTGYNQRRWRPAAWEQSHECEACNCHG
HASNCYYDPDVERQQASLNTQGIYAGGGVCINCQHNTAGVNCEQCAKGYYRPYGVPVDAP
DGCIPCSCDPEHADGCEQGSGRCHCKPNFHGDNCEKCAIGYYNFPFCLRIPIFPVSTPSS
EDPVAGDIKGCDCNLEGVLPEICDAHGRCLCRPGVEGPRCDTCRSGFYSFPICQACWCSA
LGSYQMPCSSVTGQCECRPGVTGQRCDRCLSGAYDFPHCQGSSSACDPAGTINSNLGYCQ
CKLHVEGPTCSRCKLLYWNLDKENPSGCSECKCHKAGTVSGTGECRQGDGDCHCKSHVGG
DSCDTCEDGYFALEKSNYFGCQGCQCDIGGALSSMCSGPSGVCQCREHVVGKVCQRPENN
YYFPDLHHMKYEIEDGSTPNGRDLRFGFDPLAFPEFSWRGYAQMTSVQNDVRITLNVGKS
SGSLFRVILRYVNPGTEAVSGHITIYPSWGAAQSKEIIFLPSKEPAFVTVPGNGFADPFS
ITPGIWVACIKAEGVLLDYLVLLPRDYYEASVLQLPVTEPCAYAGPPQENCLLYQHLPVT
RFPCTLACEARHFLLDGEPRPVAVRQPTPAHPVMVDLSGREVELHLRLRIPQVGHYVVVV
EYSTEAAQLFVVDVNVKSSGSVLAGQVNIYSCNYSVLCRSAVIDHMSRIAMYELLADADI
QLKGHMARFLLHQVCIIPIEEFSAEYVRPQVHCIASYGRFVNQSATCVSLAHETPPTALI
LDVLSGRPFPHLPQQSSPSVDVLPGVTLKAPQNQVTLRGRVPHLGRYVFVIHFYQAAHPT
FPAQVSVDGGWPRAGSFHASFCPHVLGCRDQVIAEGQIEFDISEPEVAATVKVPEGKSLV
LVRVLVVPAENYDYQILHKKSMDKSLEFITNCGKNSFYLDPQTASRFCKNSARSLVAFYH
KGALPCECHPTGATGPHCSPEGGQCPCQPNVIGRQCTRCATGHYGFPRCKPCSCGRRLCE
EMTGQCRCPPRTVRPQCEVCETHSFSFHPMAGCEGCNCSRRGTIEAAMPECDRDSGQCRC
KPRITGRQCDRCASGFYRFPECVPCNCNRDGTEPGVCDPGTGACLCKENVEGTECNVCRE
GSFHLDPANLKGCTSCFCFGVNNQCHSSHKRRTKFVDMLGWHLETADRVDIPVSFNPGSN
SMVADLQELPATIHSASWVAPTSYLGDKVSSYGGYLTYQAKSFGLPGDMVLLEKKPDVQL
TGQHMSIIYEETNTPRPDRLHHGRVHVVEGNFRHASSRAPVSREELMTVLSRLADVRIQG
LYFTETQRLTLSEVGLEEASDTGSGRIALAVEICACPPAYAGDSCQGCSPGYYRDHKGLY
TGRCVPCNCNGHSNQCQDGSGICVNCQHNTAGEHCERCQEGYYGNAVHGSCRACPCPHTN
SFATGCVVNGGDVRCSCKAGYTGTQCERCAPGYFGNPQKFGGSCQPCSCNSNGQLGSCHP
LTGDCINQEPKDSSPAEECDDCDSCVMTLLNDLATMGEQLRLVKSQLQGLSASAGLLEQM
RHMETQAKDLRNQLLNYRSAISNHGSKIEGLERELTDLNQEFETLQEKAQVNSRKAQTLN
NNVNRATQSAKELDVKIKNVIRNVHILLKQISGTDGEGNNVPSGDFSREWAEAQRMMREL
RNRNFGKHLREAEADKRESQLLLNRIRTWQKTHQGENNGLANSIRDSLNEYEAKLSDLRA
RLQEAAAQAKQANGLNQENERALGAIQRQVKEINSLQSDFTKYLTTADSSLLQTNIALQL
MEKSQKEYEKLAASLNEARQELSDKVRELSRSAGKTSLVEEAEKHARSLQELAKQLEEIK
RNASGDELVRCAVDAATAYENILNAIKAAEDAANRAASASESALQTVIKEDLPRKAKTLS
SNSDKLLNEAKMTQKKLKQEVSPALNNLQQTLNIVTVQKEVIDTNLTTLRDGLHGIQRGD
IDAMISSAKSMVRKANDITDEVLDGLNPIQTDVERIKDTYGRTQNEDFKKALTDADNSVN
KLTNKLPDLWRKIESINQQLLPLGNISDNMDRIRELIQQARDAASKVAVPMRFNGKSGVE
VRLPNDLEDLKGYTSLSLFLQRPNSRENGGTENMFVMYLGNKDASRDYIGMAVVDGQLTC
VYNLGDREAELQVDQILTKSETKEAVMDRVKFQRIYQFARLNYTKGATSSKPETPGVYDM
DGRNSNTLLNLDPENVVFYVGGYPPDFKLPSRLSFPPYKGCIELDDLNENVLSLYNFKKT
FNLNTTEVEPCRRRKEESDKNYFEGTGYARVPTQPHAPIPTFGQTIQTTVDRGLLFFAEN
GDRFISLNIEDGKLMVRYKLNSELPKERGVGDAINNGRDHSIQIKIGKLQKRMWINVDVQ
NTIIDGEVFDFSTYYLGGIPIAIRERFNISTPAFRGCMKNLKKTSGVVRLNDTVGVTKKC
SEDWKLVRSASFSRGGQLSFTDLGLPPTDHLQASFGFQTFQPSGILLDHQTWTRNLQVTL
EDGYIELSTSDSGSPIFKSPQTYMDGLLHYVSVISDNSGLRLLIDDQLLRNSKRLKHISS
SRQSLRLGGSNFEGCISNVFVQRLSLSPEVLDLTSNSLKRDVSLGGCSLNKPPFLMLLKG
STRFNKTKTFRINQLLQDTPVASPRSVKVWQDACSPLPKTQANHGALQFGDIPTSHLLFK
LPQELLKPRSQFAVDMQTTSSRGLVFHTGTKNSFMALYLSKGRLVFALGTDGKKLRIKSK
EKCNDGKWHTVVFGHDGEKGRLVVDGLRAREGSLPGNSTISIRAPVYLGSPPSGKPKSLP
TNSFVGCLKNFQLDSKPLYTPSSSFGVSSCLGGPLEKGIYFSEEGGHVVLAHSVLLGPEF
KLVFSIRPRSLTGILIHIGSQPGKHLCVYLEAGKVTASMDSGAGGTSTSVTPKQSLCDGQ
WHSVAVTIKQHILHLELDTDSSYTAGQIPFPPASTQEPLHLGGAPANLTTLRIPVWKSFF
GCLRNIHVNHIPVPVTEALEVQGPVSLNGCPDQ

Sequence length

3333

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

753

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colon adenocarcinoma	Pathogenic	rs2511702559	RCV005928772
Epidermolysis bullosa, junctional 2A, intermediate	Likely pathogenic; Pathogenic	rs760487161, rs777713989, rs2145407506, rs2511271496, rs367651246, rs137852757, rs2081155250, rs2511547994, rs2082061881, rs187997925, rs2511406882, rs751342972, rs752030611, rs1057516279, rs1555724066 View all (5 more)	RCV005023131 RCV005014657 RCV005016735 RCV002465075 RCV005027920 RCV005003348 RCV003147918 RCV005014843 RCV005014918 RCV004573427 RCV004547335 RCV004576143 RCV005027461 RCV002502419 RCV005027780 RCV004568515 RCV005027811 RCV005019159 RCV004796270 RCV004546620
Epidermolysis bullosa, junctional 2B, severe	Likely pathogenic; Pathogenic	rs760487161, rs998162536, rs777713989, rs1454998189, rs2145407506, rs2511271496, rs367651246, rs2511272040, rs137852757, rs2081155250, rs886039412, rs2511547994, rs2082061881, rs187997925, rs2144714757 View all (11 more)	RCV005023131 RCV003987892 RCV005014657 RCV006249787 RCV005016735 RCV002465075 RCV005027920 RCV002051618 RCV002051619 RCV003147917 RCV003992252 RCV005014843 RCV005014918 RCV006249405 RCV003990387 RCV004547437 RCV005027461 RCV002502419 RCV002248641 RCV005027780 RCV006249665 RCV005027797 RCV005027811 RCV005019159 RCV004796270 RCV005021538
Gastric cancer	Pathogenic	rs1599121619	RCV005934669
Junctional epidermolysis bullosa	Pathogenic; Likely pathogenic	rs2081155250, rs2081156116, rs2082978607, rs760487161, rs777713989, rs2145417826, rs1047102588, rs2080986242, rs1275015633, rs2511581197, rs2511225021, rs1475516253, rs779131897, rs2511543235, rs774133746, rs1158945258 View all (1 more)	RCV001352733 RCV001352734 RCV001352735 RCV002242801 RCV001779510 RCV003322898 RCV002222912 RCV002238559 RCV005636693 RCV002510330 RCV002510334 RCV005636958 RCV004587526 RCV003988460 RCV002282129 RCV002222598
Junctional epidermolysis bullosa gravis of Herlitz	Pathogenic; Likely pathogenic	rs998162536, rs786204732, rs137852757, rs2511358161, rs80356679, rs1057516512, rs752030611, rs1057517023, rs1057516475, rs1057517235, rs1057517367, rs1057517314, rs1057516584, rs1057516688, rs1057516280 View all (65 more)	RCV001844370 RCV000169576 RCV000009337 RCV003340716 RCV000020426 RCV000409262 RCV000412059 RCV000411213 RCV000411301 RCV000411011 RCV000409390 RCV000412128 RCV000409185 RCV000409897 RCV000409246 RCV000409334 RCV000409194 RCV000411524 RCV000412319 RCV000411334 RCV000412371 RCV000410054 RCV000412368 RCV000410296 RCV000675053 RCV000984192 RCV000020425 RCV000665771 RCV000674948 RCV000673198 RCV000665172 RCV000668353 RCV000664875 RCV000667428 RCV000664479 RCV000671617 RCV000672494 RCV000668273 RCV000668451 RCV000673489 RCV000666762 RCV000670310 RCV000673505 RCV000666744 RCV000672396 RCV000671521 RCV000665502 RCV000673677 RCV000668998 RCV000674213 RCV000668590 RCV000670227 RCV000672417 RCV000668751 RCV000667510 RCV000664589 RCV000664866 RCV000674677 RCV000671891 RCV000673242 RCV000670449 RCV000671162 RCV000667200 RCV000673619 RCV000665481 RCV000674851 RCV000674152 RCV000667634 RCV000671500 RCV000668908 RCV000672802 RCV000667151 RCV000666627 RCV000669641 RCV000665322 RCV000670199 RCV000673854 RCV000668250 RCV000672758 RCV000674311 RCV000667395
Junctional epidermolysis bullosa, non-Herlitz type	Likely pathogenic; Pathogenic	rs2511546700, rs772038362, rs1181742615	RCV002290172 RCV000763025 RCV000598174
LAMA3-related disorder	Likely pathogenic; Pathogenic	rs367651246, rs886039412, rs2511472252, rs187997925, rs772038362	RCV004736193 RCV004734910 RCV004527851 RCV004539488 RCV004537867
Laryngo-onycho-cutaneous syndrome	Likely pathogenic; Pathogenic	rs760487161, rs777713989, rs2145407506, rs763060857, rs2511226024, rs2511224829, rs2511271496, rs367651246, rs137852757, rs2081155250, rs2511547994, rs2082061881, rs187997925, rs761118747, rs752030611 View all (9 more)	RCV005023131 RCV005014657 RCV005016735 RCV002267790 RCV002286451 RCV002286452 RCV002465075 RCV005027920 RCV005003348 RCV003147916 RCV005014843 RCV005014918 RCV006249405 RCV004547341 RCV005027461 RCV002502419 RCV000763025 RCV000009339 RCV005027780 RCV005027797 RCV005027811 RCV005019159 RCV004796270 RCV005021538
Melanoma	Likely pathogenic; Pathogenic	rs779131897	RCV005931406
Papillary renal cell carcinoma type 1	Likely pathogenic	rs1057516475	RCV005900632
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1555754655	RCV005901466

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs17202961, rs9950679	RCV005913000 RCV005923014
Familial cancer of breast	Uncertain significance	rs757749910	RCV005930514
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs1109950, rs77331026	RCV005920248 RCV005901827
Interstitial lung disease 2	Uncertain significance	rs759225610	RCV000677218
Lung cancer	Benign; Likely benign	rs112534534	RCV005906474
Malignant lymphoma, large B-cell, diffuse	Benign	rs1268716	RCV005914904
Malignant tumor of esophagus	Benign	rs9950679	RCV005923015
Ovarian serous cystadenocarcinoma	Benign	rs9950679	RCV005923018
Sarcoma	Benign	rs9950679, rs199976293	RCV005923016 RCV005928081
Thymoma	Benign; Likely benign	rs17202961, rs9950679	RCV005913001 RCV005923019
Uterine corpus endometrial carcinoma	Benign	rs9950679	RCV005923020

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	11267939, 23301059, 26683690
Adenocarcinoma of Lung	Associate	37021520, 37322027, 39766765
Adenoma	Associate	23301059
Amelogenesis Imperfecta	Associate	31478359
Anodontia	Associate	28813618
Arthritis Rheumatoid	Associate	28767591
Blister	Associate	34796550, 8618020, 8618058
Bone Neoplasms	Associate	23199169
Calcinosis Cutis	Associate	23199169
Carcinogenesis	Associate	23301059
Carcinoma Hepatocellular	Associate	12079511
Carcinoma Non Small Cell Lung	Inhibit	11267939
Carcinoma Pancreatic Ductal	Associate	31182680
Carcinoma Squamous Cell	Inhibit	8370973
Cholangiocarcinoma	Associate	38114514
Chromosome Disorders	Associate	38459694
Creutzfeldt Jakob Syndrome	Associate	25149502
Dental Enamel Hypoplasia	Associate	27827380
Dermatitis Atopic	Associate	25363238
Epidermolysis Bullosa	Associate	33921969, 36578049, 38429928
Epidermolysis Bullosa Junctional	Associate	10469327, 11564184, 23958762, 25363238, 27827380, 29946029, 32222156, 35234826, 38157931, 8228337, 8618020, 8618022, 8618058, 9326326
Epidermolysis Bullosa Pruriginosa	Associate	36578049
Esophageal Neoplasms	Associate	40234833
Fuchs' Endothelial Dystrophy	Stimulate	28726551
Head and Neck Neoplasms	Associate	19936049
Hypoxia	Associate	19936049
Liver Neoplasms	Associate	12079511
Lung Neoplasms	Associate	26683690
Melanoma	Associate	22032772
Neoplasms	Associate	19936049, 24675808, 31182680, 32364250, 36311789, 40234833
Osteosarcoma	Associate	33308057
Ovarian Neoplasms	Associate	32878513, 33992120, 34289901, 34512203
Pancreatic Neoplasms	Associate	34134622, 34732125, 36311789, 37198621
Prion Diseases	Associate	25149502
Pulmonary Disease Chronic Obstructive	Associate	38429928
Squamous Cell Carcinoma of Head and Neck	Associate	24675808
Stomach Neoplasms	Associate	8780383
Urinary Bladder Neoplasms	Associate	37694778
Van der Woude syndrome	Associate	27827380

LAMA3 (laminin subunit alpha 3)