LAMC3 laminin subunit gamma 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAMC3provided by HGNC
Official Full Name: laminin subunit gamma 3provided by HGNC
Primary source: HGNC:HGNC:6494
See related: Ensembl:ENSG00000050555 MIM:604349; AllianceGenome:HGNC:6494
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OCCM
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, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]
Expression: Biased expression in placenta (RPKM 45.0), testis (RPKM 15.3) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.12

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (131009174..131094473)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (143217399..143302700)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (133884561..133969860)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.
Title: Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.
[Relationships between decreased LAMC3 and poor prognosis in ovarian cancer].
Title: [Relationships between decreased LAMC3 and poor prognosis in ovarian cancer].
LAMC3 mutation causes structural and functional impairments in visual attention networks.
Title: Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks.
These data demonstrate a unique temporal and spatial expression for laminins and reveal a novel role for laminin gamma3 during human retinogenesis.
Title: Laminin γ3 plays an important role in retinal lamination, photoreceptor organisation and ganglion cell differentiation.
Study reports a novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy. Study identified a homozygous nonsense mutation in LAMC3: c.3190C>T (p.Gln1064*).
Title: A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.
LAMC3 gene variation is associated with oral cavity and pharyngeal cancer.
Title: Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.
We found statistically significant association with AAO for three genes (WRN, NTN4 and LAMC3) with common associated variants.
Title: Family-based genome scan for age at onset of late-onset Alzheimer's disease in whole exome sequencing data.
These data suggest that beta2 and gamma3-containing laminins play an important dose-dependent role in development of the cortical pial basement membrane
Title: β2 and γ3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia.
Recessive LAMC3 mutations cause malformations of occipital cortical development.
Title: Recessive LAMC3 mutations cause malformations of occipital cortical development.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Occipital pachygyria and polymicrogyria MedGen: C3279875 OMIM: 614115 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution	PubMed
	tat	HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1	PubMed
	tat	HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14302 (e-PCR)
- UniSTS:71939

D9S313 (e-PCR)
- UniSTS:153121

D8S2279 (e-PCR)
- UniSTS:473907

D9S903 (e-PCR)
- UniSTS:8063

D9S110 (e-PCR)
- UniSTS:154528

LAMC3__6368 (e-PCR)
- UniSTS:464033

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in astrocyte development	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basement membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: laminin subunit gamma-3

Names: laminin, gamma 3; laminin-12 subunit gamma; laminin-14 subunit gamma; laminin-15 subunit gamma

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029800.1 RefSeqGene

Range

5058..90357

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006059.4 → NP_006050.3 laminin subunit gamma-3 precursor

See identical proteins and their annotated locations for NP_006050.3

Status: REVIEWED

Source sequence(s)

AB208887, AF041835, AK075536, AL157938, AL355872, AL551493, BX327938, R45355

Consensus CDS

CCDS6938.1

UniProtKB/Swiss-Prot

B1APX9, B1APY0, Q59H72, Q9Y6N6

Related

ENSP00000354360.4, ENST00000361069.9

Conserved Domains (7) summary

cd00055
Location:706 → 753

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam00052
Location:541 → 662

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:917 → 965

Laminin_EGF; Laminin EGF domain

pfam00055
Location:44 → 269

Laminin_N; Laminin N-terminal (Domain VI)

pfam04012
Location:1191 → 1420

PspA_IM30; PspA/IM30 family

pfam14662
Location:1338 → 1518

KASH_CCD; Coiled-coil region of CCDC155 or KASH

cl21478
Location:1354 → 1447

ATP-synt_B; ATP synthase B/B' CF(0)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

131009174..131094473

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011518121.2 → XP_011516423.1 laminin subunit gamma-3 isoform X1

Conserved Domains (6) summary

cd00055
Location:706 → 753

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam00052
Location:541 → 662

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:917 → 965

Laminin_EGF; Laminin EGF domain

pfam00055
Location:44 → 269

Laminin_N; Laminin N-terminal (Domain VI)

pfam04012
Location:1191 → 1426

PspA_IM30; PspA/IM30 family

cl21478
Location:1360 → 1453

ATP-synt_B; ATP synthase B/B' CF(0)
XM_006716921.3 → XP_006716984.1 laminin subunit gamma-3 isoform X2

Conserved Domains (5) summary

cd00055
Location:706 → 748

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam00052
Location:541 → 662

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:917 → 965

Laminin_EGF; Laminin EGF domain

pfam00055
Location:44 → 269

Laminin_N; Laminin N-terminal (Domain VI)

cl22855
Location:684 → 777

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)