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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 ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include protein tyrosine kinase activity and obsolete 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for LAMA4 Gene

Promoters and enhancers for LAMA4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J112249 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 662.7 +2.6 2570 6.6 HDGF SIN3A FEZF1 GLI4 ZNF2 YY1 ZNF121 GLIS2 ZNF213 KLF7 LAMA4 ENSG00000220506 BRD7P4 FCF1P5 RNU6-1226P LOC100128588 MFSD4B ENSG00000281613 ENSG00000226440 LOC101927640
GH06J112297 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 656.3 -43.9 -43907 2.5 JUN ZSCAN4 ZNF133 KLF17 ZNF324 POLR2A FOSL2 FOS ZNF600 RFX1 LAMA4 GC06M112326 ENSG00000281613 ENSG00000226440 LOC101927640
GH06J112213 Enhancer 1.4 Ensembl ENCODE dbSUPER 16.3 +38.4 38375 6 PKNOX1 FOXA2 ZNF493 FEZF1 ZNF2 YY1 GLIS2 FOS SP3 RXRA LAMA4 RNU6-1226P ENSG00000220506 ENSG00000237234 LOC100128588 BRD7P4 FCF1P5 ENSG00000270661 GC06M112197
GH06J112220 Enhancer 1.1 Ensembl ENCODE dbSUPER 17.1 +31.0 31001 6 ZBTB6 ZFP64 ZNF133 MZF1 ZNF697 GATA3 ZNF213 POLR2A PRDM10 CEBPB LAMA4 MFSD4B RNU6-1226P ENSG00000220506 BRD7P4 FCF1P5 LOC100128588 ENSG00000272356 RFPL4B ENSG00000270661
GH06J112231 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +20.1 20089 7.2 PKNOX1 ARNT FEZF1 ZNF2 ZNF121 GLIS2 ZNF213 KLF7 FOS RXRA ENSG00000226440 ENSG00000281613 LOC101927640 ENSG00000271208 LAMA4 LOC100128588 WISP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMA4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LAMA4 gene promoter:
  • MEF-2A
  • aMEF-2
  • Evi-1
  • AML1a
  • E47
  • Tal-1beta

Genomic Locations for LAMA4 Gene

Genomic Locations for LAMA4 Gene
147,009 bases
Minus strand
147,008 bases
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:
    Recommended name:
    Laminin subunit alpha-4
    Protein Accession:
    Secondary Accessions:
    • Q14731
    • Q14735
    • Q15335
    • Q4LE44
    • Q5SZG8
    • Q9BTB8
    • Q9UE18
    • Q9UJN9

    Protein attributes for LAMA4 Gene

    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).
    • Sequence=BAE06109.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LAMA4 Gene


neXtProt entry for LAMA4 Gene

Post-translational modifications for LAMA4 Gene

  • Glycosylation at Asn1418, isoforms=21366, Asn1288, Asn1093, Asn810, isoforms=2787, isoforms=2761, isoforms=2758, isoforms=2742, isoforms=2646, isoforms=2638, Asn581, isoforms=2578, Asn557, isoforms=2531, Asn465, Asn315, Asn215, and Asn104
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LAMA4 Gene

Domains & Families for LAMA4 Gene

Gene Families for LAMA4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LAMA4 Gene

Graphical View of Domain Structure for InterPro Entry



  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
  • 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

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

Gene Ontology (GO) - Molecular Function for LAMA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling 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:
  • Lama4 Lama4<tm1Ktry>
  • Lama4 Lama4<tm1.1(KOMP)Vlcg>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

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 IEA,IDA 14557481
GO:0005605 basal lamina TAS 7959779
GO:0005615 extracellular space IEA --
GO:0031012 colocalizes_with extracellular matrix ISS 22261194
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


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:

Clone 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 ·
SP3: - -
SP8: - - -
SP9: - - -
SP10: - - - -
SP12: - - - -
SP13: - - - - - - - - -
SP14: - - - - - - -
SP15: -
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: - - - - -
SP5: - -
SP6: - - -
SP11: -

ExUns: 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36a · 36b · 36c ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44
SP1: - -

Relevant External Links for LAMA4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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 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:


SOURCE GeneReport for Unigene cluster for LAMA4 Gene:


mRNA Expression by UniProt/SwissProt for LAMA4 Gene:

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
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Head and neck:
  • brain
  • ear
  • head
  • heart
  • heart valve
  • lung
  • lower limb
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with LAMA4: view

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
(Pan troglodytes)
Mammalia LAMA4 34 33
  • 99.47 (n)
(Bos Taurus)
Mammalia LAMA4 34 33
  • 89.6 (n)
(Canis familiaris)
Mammalia LAMA4 34 33
  • 88.55 (n)
(Mus musculus)
Mammalia Lama4 16 34 33
  • 85.89 (n)
(Rattus norvegicus)
Mammalia Lama4 33
  • 84.84 (n)
(Monodelphis domestica)
Mammalia LAMA4 34
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia LAMA4 34
  • 78 (a)
(Gallus gallus)
Aves LAMA4 34 33
  • 70.27 (n)
(Anolis carolinensis)
Reptilia LAMA4 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lama4 33
  • 62.02 (n)
Str.13358 33
(Danio rerio)
Actinopterygii lama4 34 33
  • 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

Gene Tree for LAMA4 (if available)
Gene Tree for LAMA4 (if available)
Evolutionary constrained regions (ECRs) for LAMA4: view image

Paralogs for LAMA4 Gene

Paralogs for LAMA4 Gene

(6) SIMAP similar genes for LAMA4 Gene using alignment to 12 proteins:

  • E5RK79_HUMAN
  • H0UI49_HUMAN
  • H0Y351_HUMAN
  • Q05CF9_HUMAN
  • Q5D044_HUMAN
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 Variation AA Info Type
rs1029188462 uncertain-significance, Dilated cardiomyopathy 1JJ 112,187,472(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1060500981 uncertain-significance, Dilated cardiomyopathy 1JJ 112,254,092(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060500982 uncertain-significance, Dilated cardiomyopathy 1JJ 112,114,165(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1060500983 uncertain-significance, Dilated cardiomyopathy 1JJ 112,139,249(-) G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1060504123 likely-benign, Dilated cardiomyopathy 1JJ 112,129,932(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_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
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)

Additional Variant Information for LAMA4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for LAMA4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for LAMA4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1jj
  • cmd1jj
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
spinocerebellar ataxia 19
  • sca19
brugada syndrome 9
  • brgda9
left ventricular noncompaction
  • left ventricular hypertrabeculation
- elite association - COSMIC cancer census association via MalaCards
Search LAMA4 in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for LAMA4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Pope FM (European journal of biochemistry 1996) 3 4 22 58
  2. Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain. (PMID: 7959779) Richards AJ … Pope FM (Genomics 1994) 2 3 4 58
  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 (Journal of human genetics 2010) 3 44 58
  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 RL (Journal of cutaneous pathology 2009) 3 22 58
  5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 44 58

Products for LAMA4 Gene

Sources for LAMA4 Gene

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