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	10319
Gene name	Laminin subunit gamma 3
Gene symbol	LAMC3
Synonyms (NCBI Gene)	OCCM
Chromosome	9
Chromosome location	9q34.12
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
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

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

218

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
LAMC3-related disorder	Likely pathogenic	rs1833833523	RCV003402880
Occipital pachygyria and polymicrogyria	Likely pathogenic; Pathogenic	rs781432366, rs2133193948, rs775851709, rs1170064033, rs2133322852, rs1402701697, rs1439284027, rs2538309608, rs2490715564, rs761516738, rs1564365706, rs387906887	RCV001782373 RCV004526873 RCV002492161 RCV002271833 RCV002275673 RCV004587368 RCV003146932 RCV003153290 RCV003990014 RCV000023369 RCV000023370 RCV000023371

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance; Benign	rs774498189, rs12340386	RCV005925502 RCV005904223
Adrenocortical carcinoma, hereditary	Benign	rs45603838	RCV005889112
Cervical cancer	Likely benign	rs11244272	RCV005914990
Cholangiocarcinoma	Benign	rs45603838, rs11244268	RCV005889117 RCV005905806
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs140540789, rs141918703	RCV005900835 RCV005904503
Colon adenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs146180154, rs141918703	RCV005928557 RCV005904502
Gastric cancer	Benign; Uncertain significance	rs2003297, rs150171154	RCV005925197 RCV005913650
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs144242690	RCV005895880
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs192031352, rs201011683, rs749496192, rs149766298, rs138713603, rs367598489, rs1268185118, rs1188602137, rs771846512, rs144084540, rs780728013, rs547090197, rs149861552	RCV001252295 RCV001252300 RCV001252301 RCV001252297 RCV001252054 RCV001252294 RCV001252055 RCV001252293 RCV001252299 RCV001252296 RCV001252298 RCV001252056 RCV001257683
Left ventricular noncompaction	Conflicting classifications of pathogenicity	rs199535979, rs146221263, rs140955110	RCV005625369 RCV005625371 RCV005625372
Lung cancer	Benign	rs2003297	RCV005925200
Malignant lymphoma, large B-cell, diffuse	Benign	rs45603838, rs11244268	RCV005889114 RCV005905804
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity; Likely benign	rs2003297, rs140540789, rs560682534	RCV005925196 RCV005900833 RCV005904462
Melanoma	Conflicting classifications of pathogenicity	rs140540789	RCV005900836
Neonatal death	Uncertain significance	rs138713603, rs1160626988	RCV000853194 RCV000853195
Ovarian cancer	Conflicting classifications of pathogenicity	rs140540789	RCV005900834
Ovarian serous cystadenocarcinoma	Benign	rs2003297	RCV005925198
Sarcoma	Uncertain significance	rs376100801	RCV005899879
See cases	Conflicting classifications of pathogenicity	rs144662546	RCV002252047
Thymoma	Benign	rs2003297, rs45603838	RCV005925199 RCV005889116
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs373660982	RCV005892320
Uterine carcinosarcoma	Benign; Likely benign	rs45603838, rs61637370, rs11244268	RCV005889115 RCV005900998 RCV005905805
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs78329755, rs11244272, rs2003297, rs12340386	RCV005918903 RCV005914991 RCV005925201 RCV005904224
Uveal melanoma	Benign	rs45603838, rs11244268	RCV005889113 RCV005905803

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)