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Aliases for LAMA4 Gene

Aliases for LAMA4 Gene

  • Laminin Subunit Alpha 4 2 3 5
  • Laminin, Alpha 4 2 3
  • Laminin-14 Subunit Alpha 4
  • Laminin Subunit Alpha-4 3
  • 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 Subunit Alpha 4) is a Protein Coding gene. Diseases associated with LAMA4 include Cardiomyopathy, Dilated, 1Jj and Familial Isolated Dilated Cardiomyopathy. Among its related pathways are Phospholipase-C Pathway and FOXM1 transcription factor network. GO annotations related to this gene include protein tyrosine kinase activity and signal transducer activity. An important paralog of this gene is LAMA3.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMA4 Gene

Genomics for LAMA4 Gene

Regulatory Elements for LAMA4 Gene

Enhancers for LAMA4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G112213 1.5 Ensembl ENCODE dbSUPER 16.3 +38.4 38376 6.0 PKNOX1 FOXA2 ZNF493 FEZF1 ZNF2 YY1 GLIS2 GATA2 FOS SP3 LAMA4 RNU6-1226P ENSG00000220506 ENSG00000237234 LOC100128588 BRD7P4 FCF1P5 ENSG00000270661 GC06M112197
GH06G112220 1.2 Ensembl ENCODE dbSUPER 17.1 +31.0 31002 6.0 CTCF ZFP64 ZNF133 ZNF101 ZNF697 GATA3 PRDM10 ZNF426 CEBPB ZNF398 LAMA4 RNU6-1226P LOC100128588 RFPL4B ENSG00000270661 ENSG00000271208
GH06G112231 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +20.1 20089 7.2 PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF121 GLIS2 GATA2 KLF7 FOS TUBE1 TRAF3IP2-AS1 LAMA4 ENSG00000255389 LOC100128588 ENSG00000226440 WISP3 ENSG00000271208
GH06G112249 1.6 FANTOM5 ENCODE dbSUPER 12.7 +2.6 2570 6.6 HDGF FEZF1 GLI4 ZNF2 YY1 ZNF121 GLIS2 GATA2 KLF7 ZNF548 LAMA4 ENSG00000220506 BRD7P4 FCF1P5 RNU6-1226P LOC100128588 MFSD4B ENSG00000281613
GH06G112202 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +50.2 50195 5.2 PKNOX1 FEZF1 YY1 GATA2 FOS PPARG MAFF SMARCA4 STAT3 HNF4A LAMA4 ENSG00000255389 RNU6-1226P GC06M112197 ENSG00000270661
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LAMA4 on UCSC Golden Path with GeneCards custom track

Promoters for LAMA4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000201313 1739 3201 HDGF FEZF1 GLI4 ZNF2 YY1 ZNF121 GLIS2 GATA2 KLF7 ZNF548

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

Genes around LAMA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for LAMA4 Gene

  • Glycosylation at isoforms=2104, posLast=215215, isoforms=2315, isoforms=2465, isoforms=2531, posLast=557557, posLast=578578, posLast=581581, posLast=638638, isoforms=2646, posLast=742742, posLast=758758, posLast=761761, isoforms=2787, isoforms=2810, isoforms=21093, posLast=12881288, isoforms=21366, and isoforms=21418
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for LAMA4 (Laminin alpha 4)
  • Cloud-Clone Corp. Antibodies for LAMA4

No data available for DME Specific Peptides for LAMA4 Gene

Domains & Families for LAMA4 Gene

Gene Families 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.
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

Human Phenotype Ontology for LAMA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMA4 Gene

MGI Knock Outs for LAMA4:

Animal Model Products

Inhibitory RNA 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
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 LAMA4 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for LAMA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane IEA,IDA 14557481
GO:0005605 basal lamina TAS 7959779
GO:0005615 extracellular space IEA --
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

SIGNOR curated interactions for LAMA4 Gene

Activates:

Gene Ontology (GO) - Biological Process for LAMA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0045995 regulation of embryonic development 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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for LAMA4 Gene



Protein tissue co-expression partners for LAMA4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LAMA4 Gene:

LAMA4

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.

Evidence on tissue expression from TISSUES for LAMA4 Gene

  • Heart(4.7)
  • Nervous system(4.7)
  • Lung(4.4)
  • Pancreas(4.3)
  • Liver(4.2)
  • Intestine(2.8)
  • Gall bladder(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMA4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with LAMA4: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia LAMA4 34 35
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia LAMA4 34 35
  • 89.6 (n)
dog
(Canis familiaris)
Mammalia LAMA4 34 35
  • 88.55 (n)
mouse
(Mus musculus)
Mammalia Lama4 34 16 35
  • 85.89 (n)
rat
(Rattus norvegicus)
Mammalia Lama4 34
  • 84.84 (n)
oppossum
(Monodelphis domestica)
Mammalia LAMA4 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMA4 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMA4 34 35
  • 70.27 (n)
lizard
(Anolis carolinensis)
Reptilia LAMA4 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lama4 34
  • 62.02 (n)
Str.13358 34
zebrafish
(Danio rerio)
Actinopterygii lama4 34 35
  • 55.17 (n)
Species where no ortholog for LAMA4 was found in the sources mined by GeneCards:
  • 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
VAR_069708 Cardiomyopathy, dilated 1JJ (CMD1JJ) [MIM:615235]
rs372615994 Pathogenic 112,139,164(+) TGTTC(A/G)AACTT intron-variant, nc-transcript-variant, reference, stop-gained
rs387907365 Pathogenic 112,140,887(-) AGTCC(C/T)GAGTC intron-variant, nc-transcript-variant, reference, missense
rs863223690 Likely pathogenic 112,191,734(-) CACTG(A/G)CCAGT nc-transcript-variant, reference, missense
rs138153075 Likely benign 112,165,195(+) TAGAC(A/G)AGGTG nc-transcript-variant, reference, missense

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
esv3890928 CNV gain 25118596
nsv1022212 CNV gain 25217958
nsv474511 CNV novel sequence insertion 20440878

Variation tolerance for LAMA4 Gene

Residual Variation Intolerance Score: 16.5% 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

Human Gene Mutation Database (HGMD)
LAMA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMA4

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

Disorders for LAMA4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1jj
  • dilated cardiomyopathy 1jj
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
lama4-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1jj
- elite association - COSMIC cancer census association via MalaCards
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. The complete cDNA sequence of laminin alpha 4 and its relationship to the other human laminin alpha chains. (PMID: 8706685) Richards A.J. … Pope F.M. (Eur. J. Biochem. 1996) 3 4 22 64
  2. Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain. (PMID: 7959779) Richards A.J. … Pope F.M. (Genomics 1994) 2 3 4 64
  3. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PMID: 20485444) Wang Y. … Huang W. (J. Hum. Genet. 2010) 3 46 64
  4. 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) 3 22 64
  5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira A.R. … Marazita M.L. (Genet. Med. 2008) 3 46 64

Products for LAMA4 Gene

Sources for LAMA4 Gene

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