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 including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non... See more...

Aliases for LAMA5 Gene

Aliases for LAMA5 Gene

  • Laminin Subunit Alpha 5 2 3 5
  • Laminin-10 Subunit Alpha 3 4
  • Laminin-11 Subunit Alpha 3 4
  • Laminin-15 Subunit Alpha 3 4
  • Laminin Subunit Alpha-5 3 4
  • Laminin Alpha-5 Chain 3
  • Laminin, Alpha 5 2
  • KIAA0533 4
  • KIAA1907 4

External Ids for LAMA5 Gene

Previous GeneCards Identifiers for LAMA5 Gene

  • GC20M060647
  • GC20M061523
  • GC20M061569
  • GC20M060317
  • GC20M060883
  • GC20M057659

Summaries for LAMA5 Gene

Entrez Gene Summary for LAMA5 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 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. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]

GeneCards Summary for LAMA5 Gene

LAMA5 (Laminin Subunit Alpha 5) is a Protein Coding gene. Diseases associated with LAMA5 include Lama5-Related Multisystemic Syndrome and Alport Syndrome. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and integrin binding. An important paralog of this gene is LAMA3.

UniProtKB/Swiss-Prot Summary for LAMA5 Gene

  • 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.

Gene Wiki entry for LAMA5 Gene

Additional gene information for LAMA5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMA5 Gene

Genomics for LAMA5 Gene

GeneHancer (GH) Regulatory Elements for LAMA5 Gene

Promoters and enhancers for LAMA5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J062360 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 538.7 +1.0 1019 11.4 EP300 HNRNPK ZNF217 CTCF TCF12 NRF1 POLR2G NCOR1 JUND TEAD4 LAMA5 DIDO1 TAF4 RPS21 MTG2 YTHDF1 ENSG00000226332 LAMA5-AS1 MRGBP ARFGAP1
GH20J062385 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 520.2 -20.0 -20006 3.9 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G USF1 SP1 RPS21 LAMA5 ENSG00000273619 NONHSAG032232.2 DIDO1 TAF4 CABLES2 ENSG00000226332 LSM14B MTG2
GH20J062314 Promoter 0.5 EPDnew 500.2 +52.3 52337 0.1 NBN AGO2 lnc-CABLES2-5 lnc-CABLES2-6 LAMA5
GH20J062181 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 20 +184.0 184040 3 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 SIN3A TCF12 NRF1 MYC POLR2G MTG2 lnc-HRH3-3 DIDO1 RPS21 TAF4 LAMA5 ENSG00000226332 GID8 SS18L1 CABLES2
GH20J062935 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.9 -570.8 -570795 5.4 EP300 HNRNPK ZBTB40 ZNF217 SIN3A NRF1 TCF12 MYC POLR2G SP1 DIDO1 GID8 lnc-SLC17A9-5 GMEB2 RPS21 LAMA5 TAF4 SLC17A9 FNDC11 MRGBP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMA5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMA5

Top Transcription factor binding sites by QIAGEN in the LAMA5 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Myc
  • CREB
  • GR
  • GR-alpha
  • GR-beta
  • Max1

Genomic Locations for LAMA5 Gene

Genomic Locations for LAMA5 Gene
chr20:62,307,955-62,367,320
(GRCh38/hg38)
Size:
59,366 bases
Orientation:
Minus strand
chr20:60,883,011-60,942,368
(GRCh37/hg19)
Size:
59,358 bases
Orientation:
Minus strand

Genomic View for LAMA5 Gene

Genes around LAMA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMA5 Gene

Proteins for LAMA5 Gene

  • Protein details for LAMA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15230-LAMA5_HUMAN
    Recommended name:
    Laminin subunit alpha-5
    Protein Accession:
    O15230
    Secondary Accessions:
    • Q5U4N9
    • Q8TDF8
    • Q8WZA7
    • Q9H1P1

    Protein attributes for LAMA5 Gene

    Size:
    3695 amino acids
    Molecular mass:
    399737 Da
    Quaternary structure:
    • Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Alpha-5 is a subunit of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523).

    Three dimensional structures from OCA and Proteopedia for LAMA5 Gene

    Alternative splice isoforms for LAMA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMA5 Gene

Post-translational modifications for LAMA5 Gene

  • Glycosylation at Asn95, Asn143, Asn243, Asn452, Asn479, Asn900, Asn921, Asn959, Asn1330, Asn1529, Asn1555, Asn2019, Asn2196, Asn2209, Asn2303, Asn2423, Asn2501, Asn2568, Asn2707, Asn3107, Asn3209, Asn3257, Asn3287, and Asn3626
  • Ubiquitination at Lys192
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LAMA5_HUMAN (1441)

Other Protein References for LAMA5 Gene

No data available for DME Specific Peptides for LAMA5 Gene

Domains & Families for LAMA5 Gene

Gene Families for LAMA5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LAMA5 Gene

Blocks:
  • TNFR/CD27/30/40/95 cysteine-rich region
  • Laminin G
  • Laminin-type EGF-like domain
  • Bacterial extracellular solute-binding protein, family 3
  • Laminin I
  • Laminin B
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAMA5 Gene

GenScript: Design optimal peptide antigens:
  • Laminin-15 subunit alpha (LAMA5_HUMAN)
  • LAMA5 protein (Q5U4N9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15230

UniProtKB/Swiss-Prot:

LAMA5_HUMAN :
  • Domain G is globular and is part of the major cell-binding site located in the long arm of the laminin heterotrimer.
Domain:
  • Domain G is globular and is part of the major cell-binding site located in the long arm of the laminin heterotrimer.
genes like me logo Genes that share domains with LAMA5: view

Function for LAMA5 Gene

Molecular function for LAMA5 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
laminin 5 (kalinin/nicein) alpha 5 polypeptide,component of basement membrane zone,expressed in placenta,heart,lung,skeletal muscle,kidney,pancreas

Phenotypes From GWAS Catalog for LAMA5 Gene

Gene Ontology (GO) - Molecular Function for LAMA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005178 integrin binding IDA,IEA 11821406
GO:0005201 extracellular matrix structural constituent RCA 20551380
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with LAMA5: view
genes like me logo Genes that share phenotypes with LAMA5: view

Animal Models for LAMA5 Gene

MGI Knock Outs for LAMA5:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LAMA5 Gene

Localization for LAMA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMA5 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMA5 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAMA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane NAS 11821406
GO:0005610 laminin-5 complex IBA 21873635
GO:0005615 extracellular space IDA 10964500
GO:0005634 nucleus HDA 21630459
genes like me logo Genes that share ontologies with LAMA5: view

Pathways & Interactions for LAMA5 Gene

PathCards logo

SuperPathways for LAMA5 Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 MET promotes cell motility
3 ERK Signaling
.61
.61
.58
.51
.49
4 Focal Adhesion
5 PI3K-Akt signaling pathway
genes like me logo Genes that share pathways with LAMA5: view

Gene Ontology (GO) - Biological Process for LAMA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis NAS 11821406
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001738 morphogenesis of a polarized epithelium IBA 21873635
GO:0001755 neural crest cell migration IEA --
GO:0001942 hair follicle development IEA --
genes like me logo Genes that share ontologies with LAMA5: view

No data available for SIGNOR curated interactions for LAMA5 Gene

Drugs & Compounds for LAMA5 Gene

(2) Drugs for LAMA5 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lanoteplase Investigational Pharma Target 0

(3) Additional Compounds for LAMA5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAMA5: view

Transcripts for LAMA5 Gene

mRNA/cDNA for LAMA5 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMA5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^ 46 ^
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59a · 59b ^ 60a · 60b ^ 61a · 61b · 61c ^ 62a · 62b ^ 63a · 63b ^ 64a · 64b ^ 65 ^
SP1: - - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 66a · 66b ^ 67a · 67b ^ 68 ^ 69 ^ 70 ^ 71 ^ 72a · 72b · 72c ^ 73 ^ 74a · 74b ^ 75 ^ 76 ^ 77 ^ 78a · 78b ^ 79 ^ 80a · 80b · 80c ^ 81 ^ 82a · 82b ^
SP1: - - - -
SP2: - - - - - - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: -
SP9: -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for LAMA5 Gene

GeneLoc Exon Structure for
LAMA5

Expression for LAMA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LAMA5 Gene

This gene is overexpressed in Gallbladder (21.0), Urinary Bladder (13.1), and Rectum (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LAMA5 Gene



Protein tissue co-expression partners for LAMA5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMA5

SOURCE GeneReport for Unigene cluster for LAMA5 Gene:

Hs.473256

mRNA Expression by UniProt/SwissProt for LAMA5 Gene:

O15230-LAMA5_HUMAN
Tissue specificity: Expressed in heart, lung, kidney, skeletal muscle, pancreas, retina and placenta. Little or no expression in brain and liver.

Evidence on tissue expression from TISSUES for LAMA5 Gene

  • Gall bladder(5)
  • Nervous system(4.7)
  • Heart(4.6)
  • Intestine(4.6)
  • Liver(4.5)
  • Lung(4.4)
  • Kidney(4.1)
  • Pancreas(3.8)
  • Adrenal gland(3.7)
  • Eye(2.9)
  • Skin(2.5)
genes like me logo Genes that share expression patterns with LAMA5: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMA5 Gene

Orthologs for LAMA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMA5 30
  • 92.17 (n)
cow
(Bos Taurus)
Mammalia LAMA5 31 30
  • 83.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LAMA5 31 30
  • 82.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lama5 30
  • 80.07 (n)
mouse
(Mus musculus)
Mammalia Lama5 17 31 30
  • 79.95 (n)
oppossum
(Monodelphis domestica)
Mammalia LAMA5 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMA5 31
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMA5 31 30
  • 66.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 62 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia lama5 30
  • 66.79 (n)
zebrafish
(Danio rerio)
Actinopterygii lama5 31 30
  • 57.7 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta LanA 32 30
  • 47.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004993 30
  • 46.78 (n)
worm
(Caenorhabditis elegans)
Secernentea epi-1 32 30
  • 42.51 (n)
Species where no ortholog for LAMA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LAMA5 Gene

ENSEMBL:
Gene Tree for LAMA5 (if available)
TreeFam:
Gene Tree for LAMA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMA5: view image

Paralogs for LAMA5 Gene

(31) SIMAP similar genes for LAMA5 Gene using alignment to 7 proteins:

  • LAMA5_HUMAN
  • E2QRK0_HUMAN
  • F2Z2S4_HUMAN
  • H7C5J6_HUMAN
  • L8EAG2_HUMAN
  • Q5JTP4_HUMAN
  • Q5U4N9_HUMAN
genes like me logo Genes that share paralogs with LAMA5: view

Variants for LAMA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMA5 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
684685 Uncertain Significance: Nephrotic syndrome 62,336,424(-) G/A MISSENSE_VARIANT
684686 Uncertain Significance: Nephrotic syndrome 62,333,583(-) T/C MISSENSE_VARIANT
684687 Uncertain Significance: Nephrotic syndrome 62,313,201(-) C/T MISSENSE_VARIANT
708007 Benign: not provided 62,311,248(-) G/C SYNONYMOUS_VARIANT
708008 Benign: not provided 62,311,405(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for LAMA5 Gene

Structural Variations from Database of Genomic Variants (DGV) for LAMA5 Gene

Variant ID Type Subtype PubMed ID
dgv518n27 CNV loss 19166990
dgv669e201 CNV deletion 23290073
dgv670e201 CNV deletion 23290073
dgv7650n54 CNV loss 21841781
dgv7651n54 CNV loss 21841781
dgv7652n54 CNV loss 21841781
esv1008423 CNV insertion 20482838
esv1010421 CNV insertion 20482838
esv2422398 CNV duplication 17116639
esv2558907 CNV loss 19546169
esv2669761 CNV deletion 23128226
esv2722792 CNV deletion 23290073
esv2722798 CNV deletion 23290073
esv3401769 CNV duplication 20981092
nsv1072131 CNV deletion 25765185
nsv1073078 CNV deletion 25765185
nsv1132542 CNV duplication 24896259
nsv1142496 CNV deletion 24896259
nsv179849 CNV deletion 16902084
nsv3441 CNV insertion 18451855
nsv459059 CNV loss 19166990
nsv459065 CNV gain 19166990
nsv470556 CNV loss 18288195
nsv470557 CNV gain 18288195
nsv473382 CNV novel sequence insertion 20440878
nsv518296 CNV loss 19592680
nsv520024 CNV loss 19592680
nsv586485 CNV loss 21841781
nsv586496 CNV gain 21841781
nsv586497 CNV loss 21841781
nsv817907 CNV loss 17921354
nsv817908 CNV loss 17921354
nsv828771 CNV gain 20364138
nsv828772 CNV gain 20364138
nsv828773 CNV loss 20364138
nsv834024 CNV gain 17160897
nsv953301 CNV deletion 24416366
nsv953302 CNV deletion 24416366

Variation tolerance for LAMA5 Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.61; 99.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAMA5 Gene

Human Gene Mutation Database (HGMD)
LAMA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMA5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMA5 Gene

Disorders for LAMA5 Gene

MalaCards: The human disease database

(10) MalaCards diseases for LAMA5 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lama5-related multisystemic syndrome
alport syndrome
  • thin basement membrane nephropathy
galloway-mowat syndrome
  • microcephaly, hiatal hernia, and nephrotic syndrome
myopia
  • near vision
nephronophthisis-like nephropathy 1
  • nphpl1
- elite association - COSMIC cancer census association via MalaCards
Search LAMA5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LAMA5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LAMA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LAMA5 Gene

Publications for LAMA5 Gene

  1. Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation. (PMID: 9271224) Durkin ME … Wewer UM (FEBS letters 1997) 2 3 4 23 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. (PMID: 20972440) Houlston RS … Tomlinson IP (Nature genetics 2010) 3 41 54
  4. [Correlation between ultrastructural changes of glomerular basement membrane and abnormal distribution of laminins in patients with Alport's syndrome]. (PMID: 20019771) Huang W … Liu G (Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2009) 3 23 54
  5. Laminin alpha 5 mediates ectopic adhesion of hepatocellular carcinoma through integrins and/or Lutheran/basal cell adhesion molecule.