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.	10319
Gene name Gene Name - the full gene name approved by the HGNC.	Laminin subunit gamma 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LAMC3
Synonyms (NCBI Gene) Gene synonyms aliases	OCCM
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.12
Summary Summary of gene provided in NCBI Entrez Gene.	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
rs113443891	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs140540789	G>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant
rs140955110	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs141497885	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs141724499	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs144242690	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs144662546	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs146221263	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs147092908	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant
rs149004188	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs192031352	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs199535979	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201785610	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs387906887	C>T	Pathogenic	Stop gained, coding sequence variant
rs571785750	G>A	Pathogenic	Missense variant, coding sequence variant
rs761516738	TG>-	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs769118642	C>A	Pathogenic	Coding sequence variant, stop gained
rs1057520165	->ACCGCGGGC	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion
rs1426926688	AGCACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554789398	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554789671	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564365706	G>A	Pathogenic	Stop gained, coding sequence variant
rs1588171883	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant

Show/Hide all(22)

miRTarBase ID	miRNA	Experiments
MIRT1103462	hsa-miR-1	CLIP-seq
MIRT1103463	hsa-miR-1269	CLIP-seq
MIRT1103464	hsa-miR-1269b	CLIP-seq
MIRT1103465	hsa-miR-1288	CLIP-seq
MIRT1103466	hsa-miR-206	CLIP-seq
MIRT1103467	hsa-miR-3138	CLIP-seq
MIRT1103468	hsa-miR-342-3p	CLIP-seq
MIRT1103469	hsa-miR-4515	CLIP-seq
MIRT1103470	hsa-miR-4740-5p	CLIP-seq
MIRT1103471	hsa-miR-4742-3p	CLIP-seq
MIRT1103472	hsa-miR-4800-5p	CLIP-seq
MIRT1103473	hsa-miR-613	CLIP-seq
MIRT1103474	hsa-miR-654-3p	CLIP-seq
MIRT2259415	hsa-miR-3126-3p	CLIP-seq
MIRT2259416	hsa-miR-3162-3p	CLIP-seq
MIRT2259417	hsa-miR-339-5p	CLIP-seq
MIRT2259418	hsa-miR-4663	CLIP-seq
MIRT2259419	hsa-miR-4786-5p	CLIP-seq
MIRT2259420	hsa-miR-769-5p	CLIP-seq
MIRT2390065	hsa-miR-326	CLIP-seq
MIRT2390066	hsa-miR-330-5p	CLIP-seq
MIRT2390067	hsa-miR-4330	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005198	Function	Structural molecule activity	TAS	10225960
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007601	Process	Visual perception	IEA
GO:0014002	Process	Astrocyte development	IEA
GO:0016020	Component	Membrane	TAS	10225960
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	10225960
GO:0060041	Process	Retina development in camera-type eye	IEA

MIM	HGNC	e!Ensembl
604349	6494	ENSG00000050555

Protein

UniProt ID

Q9Y6N6

Protein name

Laminin subunit gamma-3 (Laminin-12 subunit gamma) (Laminin-14 subunit gamma) (Laminin-15 subunit gamma)

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	35 → 269	Laminin N-terminal (Domain VI)	Family
PF00053	Laminin_EGF	271 → 324	Laminin EGF domain	Domain
PF00053	Laminin_EGF	327 → 380	Laminin EGF domain	Domain
PF00053	Laminin_EGF	383 → 427	Laminin EGF domain	Domain
PF00053	Laminin_EGF	430 → 477	Laminin EGF domain	Domain
PF00052	Laminin_B	539 → 671	Laminin B (Domain IV)	Family
PF00053	Laminin_EGF	669 → 704	Laminin EGF domain	Domain
PF00053	Laminin_EGF	707 → 752	Laminin EGF domain	Domain
PF00053	Laminin_EGF	755 → 807	Laminin EGF domain	Domain
PF00053	Laminin_EGF	810 → 863	Laminin EGF domain	Domain
PF00053	Laminin_EGF	866 → 914	Laminin EGF domain	Domain
PF00053	Laminin_EGF	917 → 962	Laminin EGF domain	Domain
PF00053	Laminin_EGF	965 → 1013	Laminin EGF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Broadly expressed in: skin, heart, lung, and the reproductive tracts.

Sequence

MAAAALLLGLALLAPRAAGAGMGACYDGAGRPQRCLPVFENAAFGRLAQASHTCGSPPED
FCPHVGAAGAGAHCQRCDAADPQRHHNASYLTDFHSQDESTWWQSPSMAFGVQYPTSVNI
TLRLGKAYEITYVRLKFHTSRPESFAIYKRSRADGPWEPYQFYSASCQKTYGRPEGQYLR
PGEDERVAFCTSEFSDISPLSGGNVAFSTLEGRPSAYNFEESPGLQEWVTSTELLISLDR
LNTFGDDIFKDPKVLQSYYYAVSDFSVGGRCKCNGHASECGPDVAGQLACRCQHNTTGTD
CERCLPFFQDRPWARGTAEAAHECLPCNCSGRSEECTFDRELFRSTGHGGRCHHCRDHTA
GPHCERCQENFYHWDPRMPCQPCDCQSAGSLHLQCDDTGTCACKPTVTGWKCDRCLPGFH
SLSEGGCRPCTCNPAGSLDTCDPRSGRCPCKENVEGNLCDRCRPGTFNLQPHNPAGCSSC
FCYGHSKVCASTAQFQVHHILSDFHQGAEGWWARSVGGSEHPPQWSPNGVLLSPEDEEEL
TAPEKFLGDQRFSYGQPLILTFRVPPGDSPLPVQLRLEGTGLALSLRHSSLSGPQDAGHP
REVELRFHLQETSEDVAPPLPPFHFQRLLANLTSLRLRVSPGPSPAGPVFLTEVRLTSAR
PGLSPPASWVEICSCPTGYTGQFCESCAPGYKREMPQGGPYASCVPCTCNQHGTCDPNTG
ICVCSHHTEGPSCERCLPGFYGNPFAGQADDCQPCPCPGQSACTTIPESREVVCTHCPPG
QRGRRCEVCDDGFFGDPLGLFGHPQPCHQCQCSGNVDPNAVGNCDPLSGHCLRCLHNTTG
DHCEHCQEGFYGSALAPRPADKCMPCSCHPQGSVSEQMPCDPVTGQCSCLPHVTARDCSR
CYPGFFDLQPGRGCRSCKCHPLGSQEDQCHPKTGQCTCRPGVTGQACDRCQLGFFGFSIK
GCRACRCSPLGAASAQCHENGTCVCRPGFEGYKCDRCHDNFFLTADGTHCQQCPSCYALV
KEEAAKLKARLTLTEGWLQGSDCGSPWGPLDILLGEAPRGDVYQGHHLLPGAREAFLEQM
MSLEGAVKAAREQLQRLNKGARCAQAGSQKTCTQLADLEAVLESSEEEILHAAAILASLE
IPQEGPSQPTKWSHLATEARALARSHRDTATKIAATAWRALLASNTSYALLWNLLEGRVA
LETQRDLEDRYQEVQAAQKALRTAVAEVLPEAESVLATVQQVGADTAPYLALLASPGALP
QKSRAEDLGLKAKALEKTVASWQHMATEAARTLQTAAQATLRQTEPLTKLHQEARAALTQ
ASSSVQAATVTVMGARTLLADLEGMKLQFPRPKDQAALQRKADSVSDRLLADTRKKTKQA
ERMLGNAAPLSSSAKKKGREAEVLAKDSAKLAKALLRERKQAHRRASRLTSQTQATLQQA
SQQVLASEARRQELEEAERVGAGLSEMEQQIRESRISLEKDIETLSELLARLGSLDTHQA
PAQALNETQWALERLRLQLGSPGSLQRKLSLLEQESQQQELQIQGFESDLAEIRADKQNL
EAILHSLPENCASWQ

Sequence length

1575

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 MET activates PTK2 signaling

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Occipital Pachygyria And Polymicrogyria	occipital pachygyria and polymicrogyria	rs761516738, rs1564365706, rs387906887	N/A

Show/Hide Unknown Diseases (4)

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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Endometriosis	Endometriosis	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	26394601
Astrocytoma	Associate	38307919
Autism Spectrum Disorder	Associate	21572417, 22495309
Autistic Disorder	Associate	34368859
Breast Neoplasms	Associate	36531485
Diabetes Mellitus	Associate	24255036
Endometriosis	Associate	36232817
Epilepsy	Associate	26802095
Ketosis	Associate	40140215
Lissencephaly	Associate	33639934
Mouth Neoplasms	Associate	27749845
Neoplasms	Associate	40140215
Periventricular Nodular Heterotopia	Associate	33639934
Pituitary Neoplasms	Associate	36686480
Polymicrogyria	Associate	33639934
Seizures	Associate	26802095

LAMC3 (laminin subunit gamma 3)