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Aliases for LAMA4 Gene

Aliases for LAMA4 Gene

  • Laminin, Alpha 4 2 3
  • Laminin-14 Subunit Alpha 4
  • Laminin-8 Subunit Alpha 4
  • Laminin-9 Subunit Alpha 4
  • Laminin Alpha 4 Chain 3
  • LAMA4*-1 3
  • CMD1JJ 3
  • LAMA3 3

External Ids for LAMA4 Gene

Previous GeneCards Identifiers for LAMA4 Gene

  • GC06M112265
  • GC06M112452
  • GC06M112475
  • GC06M112536
  • GC06M110003

Summaries for LAMA4 Gene

Entrez Gene Summary for LAMA4 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, 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 alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]

GeneCards Summary for LAMA4 Gene

LAMA4 (Laminin, Alpha 4) is a Protein Coding gene. Diseases associated with LAMA4 include lama4-related dilated cardiomyopathy and cardiomyopathy, dilated, 1jj. Among its related pathways are PI3K-Akt signaling pathway and Pathways in cancer. GO annotations related to this gene include protein tyrosine kinase activity and signal transducer activity. An important paralog of this gene is LAMC2.

UniProtKB/Swiss-Prot for LAMA4 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 LAMA4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMA4 Gene

Genomics for LAMA4 Gene

Regulatory Elements for LAMA4 Gene

Genomic Location for LAMA4 Gene

Chromosome:
6
Start:
112,107,931 bp from pter
End:
112,254,939 bp from pter
Size:
147,009 bases
Orientation:
Minus strand

Genomic View for LAMA4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LAMA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMA4 Gene

Proteins for LAMA4 Gene

  • Protein details for LAMA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16363-LAMA4_HUMAN
    Recommended name:
    Laminin subunit alpha-4
    Protein Accession:
    Q16363
    Secondary Accessions:
    • Q14731
    • Q14735
    • Q15335
    • Q4LE44
    • Q5SZG8
    • Q9BTB8
    • Q9UE18
    • Q9UJN9

    Protein attributes for LAMA4 Gene

    Size:
    1823 amino acids
    Molecular mass:
    202524 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-4 is a subunit of laminin-8 (laminin-411), laminin-9 (laminin-421) and laminin-14 (laminin-423)
    SequenceCaution:
    • Sequence=BAE06109.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LAMA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMA4 Gene

Proteomics data for LAMA4 Gene at MOPED

Post-translational modifications for LAMA4 Gene

  • Glycosylation at Asn 104, Asn 215, Asn 315, Asn 465, Asn 531, Asn 557, Asn 578, Asn 581, Asn 638, Asn 646, Asn 742, Asn 758, Asn 761, Asn 787, Asn 810, Asn 1093, Asn 1288, Asn 1366, and Asn 1418
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for LAMA4 (Laminin alpha 4)

No data available for DME Specific Peptides for LAMA4 Gene

Domains & Families for LAMA4 Gene

Gene Families for LAMA4 Gene

Protein Domains for LAMA4 Gene

Graphical View of Domain Structure for InterPro Entry

Q16363

UniProtKB/Swiss-Prot:

LAMA4_HUMAN :
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure
Domain:
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure
  • Domain G is globular
  • Contains 4 laminin EGF-like domains.
  • Contains 5 laminin G-like domains.
genes like me logo Genes that share domains with LAMA4: view

Function for LAMA4 Gene

Molecular function for LAMA4 Gene

GENATLAS Biochemistry:
laminin,alpha 4 polypeptide,component of cutaneous basement membrane zone,forming heteromeric molecule with a beta and a gamma chain
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

Gene Ontology (GO) - Molecular Function for LAMA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005201 extracellular matrix structural constituent TAS 7959779
GO:0005515 protein binding IPI 16169070
genes like me logo Genes that share ontologies with LAMA4: view
genes like me logo Genes that share phenotypes with LAMA4: view

Animal Models for LAMA4 Gene

MGI Knock Outs for LAMA4:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LAMA4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LAMA4 Gene

Localization for LAMA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMA4 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAMA4 Gene COMPARTMENTS Subcellular localization image for LAMA4 gene
Compartment Confidence
extracellular 1

Gene Ontology (GO) - Cellular Components for LAMA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IDA 14557481
GO:0005605 basal lamina TAS 7959779
GO:0031012 colocalizes_with extracellular matrix ISS 22261194
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with LAMA4: view

Pathways & Interactions for LAMA4 Gene

genes like me logo Genes that share pathways with LAMA4: view

Interacting Proteins for LAMA4 Gene

SIGNOR curated interactions for LAMA4 Gene

Activates:

Gene Ontology (GO) - Biological Process for LAMA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development --
GO:0007155 cell adhesion IEA --
GO:0030155 regulation of cell adhesion IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0030334 regulation of cell migration IEA --
genes like me logo Genes that share ontologies with LAMA4: view

Drugs & Compounds for LAMA4 Gene

No Compound Related Data Available

Transcripts for LAMA4 Gene

Unigene Clusters for LAMA4 Gene

Laminin, alpha 4:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LAMA4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMA4 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a ·
SP1:
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8: - - -
SP9: - - -
SP10: - - - -
SP11:
SP12: - - - -
SP13: - - - - - - - - -
SP14: - - - - - - -
SP15: -
SP16:
SP17:
SP18:
SP19: - -

ExUns: 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c · 22d ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^
SP1: - - - - -
SP2:
SP3:
SP4:
SP5: - -
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

ExUns: 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36a · 36b · 36c ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for LAMA4 Gene

GeneLoc Exon Structure for
LAMA4
ECgene alternative splicing isoforms for
LAMA4

Expression for LAMA4 Gene

mRNA expression in normal human tissues for LAMA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LAMA4 Gene

This gene is overexpressed in Adipocyte (22.8), Urinary Bladder (14.8), and Colon muscle (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LAMA4 Gene



SOURCE GeneReport for Unigene cluster for LAMA4 Gene Hs.654572

mRNA Expression by UniProt/SwissProt for LAMA4 Gene

Q16363-LAMA4_HUMAN
Tissue specificity: In adult, strong expression in heart, lung, ovary small and large intestines, placenta, liver; weak or no expression in skeletal muscle, kidney, pancreas, testis, prostate, brain. High expression in fetal lung and kidney. Expression in fetal and newborn tissues is observed in certain mesenchymal cells in tissues such as smooth muscle and dermis
genes like me logo Genes that share expression patterns with LAMA4: view

Protein tissue co-expression partners for LAMA4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for LAMA4 Gene

Orthologs for LAMA4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAMA4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LAMA4 35
  • 89.6 (n)
  • 91.5 (a)
LAMA4 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAMA4 35
  • 88.55 (n)
  • 91.18 (a)
LAMA4 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lama4 35
  • 85.89 (n)
  • 88.81 (a)
Lama4 16
Lama4 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LAMA4 35
  • 99.47 (n)
  • 99.29 (a)
LAMA4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lama4 35
  • 84.84 (n)
  • 88.37 (a)
oppossum
(Monodelphis domestica)
Mammalia LAMA4 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMA4 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMA4 35
  • 70.27 (n)
  • 66.17 (a)
LAMA4 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMA4 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lama4 35
  • 62.02 (n)
  • 56.57 (a)
Str.13358 35
zebrafish
(Danio rerio)
Actinopterygii lama4 35
  • 55.17 (n)
  • 45.76 (a)
lama4 36
  • 44 (a)
OneToOne
Species with no ortholog for LAMA4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for LAMA4 Gene

ENSEMBL:
Gene Tree for LAMA4 (if available)
TreeFam:
Gene Tree for LAMA4 (if available)

Paralogs for LAMA4 Gene

Paralogs for LAMA4 Gene

genes like me logo Genes that share paralogs with LAMA4: view

Variants for LAMA4 Gene

Sequence variations from dbSNP and Humsavar for LAMA4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs720179 -- 112,134,947(+) TTTTT(A/T)AAAAA intron-variant
rs744006 -- 112,145,454(-) CCAGG(C/T)ACAAG intron-variant
rs763246 -- 112,163,149(+) aaaaa(A/T)ttttc intron-variant
rs763247 -- 112,143,610(+) ACAAG(A/C)AGTGT intron-variant
rs764071 -- 112,190,417(+) TTTTT(G/T)ATTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LAMA4 Gene

Variant ID Type Subtype PubMed ID
esv2667206 CNV Deletion 23128226
esv26769 CNV Loss 19812545
nsv886543 CNV Gain 21882294

Variation tolerance for LAMA4 Gene

Residual Variation Intolerance Score: 16.49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.15; 92.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAMA4 Gene

HapMap Linkage Disequilibrium report
LAMA4
Human Gene Mutation Database (HGMD)
LAMA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMA4 Gene

Disorders for LAMA4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for LAMA4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
lama4-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1jj
cardiomyopathy, dilated, 1jj
  • cardiomyopathy, dilated 1jj
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
cardiomyopathy
- elite association
Search LAMA4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LAMA4_HUMAN
  • Cardiomyopathy, dilated 1JJ (CMD1JJ) [MIM:615235]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:17646580}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LAMA4

Genetic Association Database (GAD)
LAMA4
Human Genome Epidemiology (HuGE) Navigator
LAMA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAMA4
genes like me logo Genes that share disorders with LAMA4: view

No data available for Genatlas for LAMA4 Gene

Publications for LAMA4 Gene

  1. Association of genetic variants in SEMA3F, CLEC16A, LAMA3, and PCSK2 with myocardial infarction in Japanese individuals. (PMID: 20036365) Fujimaki T. … Yamada Y. (Atherosclerosis 2010) 23 67
  2. Genetic risk for myocardial infarction in Japanese individuals with or without chronic kidney disease. (PMID: 20372818) Fujimaki T. … Yamada Y. (Int. J. Mol. Med. 2010) 23 67
  3. Overexpression of malignancy-associated laminins and laminin receptors by angiotropic human melanoma cells in a chick chorioallantoic membrane model. (PMID: 19469865) Lugassy C. … Barnhill R.L. (J. Cutan. Pathol. 2009) 23 67
  4. Exon array analysis of head and neck cancers identifies a hypoxia related splice variant of LAMA3 associated with a poor prognosis. (PMID: 19936049) Moller-Levet C.S. … Miller C.J. (PLoS Comput. Biol. 2009) 23 67
  5. HOXB2, an adverse prognostic indicator for stage I lung adenocarcinomas, promotes invasion by transcriptional regulation of metastasis-related genes in HOP-62 non-small cell lung cancer cells. (PMID: 18751384) Inamura K. … Ishikawa Y. (Anticancer Res. 2008) 23 67

Products for LAMA4 Gene

Sources for LAMA4 Gene

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