LAMA4 - laminin subunit alpha 4 Gene

Also Known as LAMA3; CMD1JJ; LAMA4*-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3910

About LAMA4

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:112,107,931-112,254,985 (from NCBI)

This gene has 24 transcripts (splice variants), 129 orthologues, 27 paralogues and is associated with 2 phenotypes. Broad expression in fat (RPKM 48.0), endometrium (RPKM 32.2) and 20 other tissues.

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 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]

LAMA4 Products (5)

mRNA	Protein	Name
NM_001105206.3	NP_001098676.2	laminin subunit alpha-4 isoform 1 precursor
NM_001105207.3	NP_001098677.2	laminin subunit alpha-4 isoform 2 precursor
NM_001105208.3	NP_001098678.1	laminin subunit alpha-4 isoform 3 precursor
NM_001105209.3	NP_001098679.1	laminin subunit alpha-4 isoform 3 precursor
NM_002290.5	NP_002281.3	laminin subunit alpha-4 isoform 2 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basement membrane	IDA IDA: Inferred from direct assay	14557481	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LAMA4 Protein Structure

Laminin_EGF

Laminin_I

Laminin_II

Laminin_G_2

0
300
600
900
1200
1500
1823 a.a.

Protein Preferred Names	Protein Names
laminin subunit alpha-4	laminin alpha 4 chain

Related Diseases

Diseases	Alias
Cardiomyopathy, Dilated, 1jj	CMD1JJ Dilated Cardiomyopathy 1jj Cardiomyopathy, Dilated 1jj Cardiomyopathy, Dilated, Type 1jj
Familial Isolated Dilated Cardiomyopathy	Familial Or Idiopathic Dilated Cardiomyopathy
Epidermolysis Bullosa, Junctional 1b, Severe	Epidermolysis Bullosa, Junctional, Herlitz Type Epidermolysis Bullosa Letalis JEB1B Epidermolysis Bullosa Junctionalis, Herlitz Type Jeb-Herlitz Type Herlitz-Pearson-Type Epidermolysis Bullosa Junctional Epidermolysis Bullosa Herlitz Type Jeb-H Junctional Epidermolysis Bullosa Generalisata Gravis Junctional Epidermolysis Bullosa, Herlitz-Pearson Type Epidermolysis Bullosa, Junctional, Generalized Severe Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type Herlitz Type Epidermolysis Bullosa Junctionalis Severe Generalized Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa, Herlitz Type Severe Generalized Jeb Epidermolysis Letalis Junctional Epidermolysis Bullosa Gravis Junctional Epidermolysis Bullosa Herlitz-Pearson Type Herlitz Disease
Junctional Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional Jeb Epidermolysis Bullosa Atrophicans Congenital Junctional Epidermolysis Bullosa Epidermolysis Bullosa Junctional Junctional Eb - [Epidermolysis Bullosa] Jeb - [Junctional Epidermolysis Bullosa] Lucidolytic Epidermolysis Bullosa
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia	Junctional Epidermolysis Bullosa With Pyloric Atresia Carmi Syndrome Epidermolysis Bullosa, Junctional, With Pyloric Atresia Jeb-Pa JEB5B Epidermolysis Bullosa Junctionalis With Pyloric Atresia Aplasia Cutis Congenita With Gastrointestinal Atresia Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita Eb-Pa-Acc Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome Jeb With Pyloric Atresia Epidermolysis Bullosa Letalis, With Pyloric Atresia Pa-Jeb Epidermolysis Bullosa With Pyloric Atresia
Junctional Epidermolysis Bullosa Non-Herlitz Type	Junctional Epidermolysis Bullosa, Non-Herlitz Type Gabeb Generalized Atrophic Benign Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Jeb-Nh Gen Jen-Nh Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Mitochondrial Dna Depletion Syndrome 12b
Heimler Syndrome 1	Deafness Enamel Hypoplasia Nail Defects Heimler Syndrome HMLR1 Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects Peroxisome Biogenesis Disorder 1c Pbd1c Deafness-Enamel Hypoplasia-Nail Defects Syndrome Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities Peroxisomal Biogenesis Disorder 1c Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome Heimler, Syndrome Heimler Syndrome, Type 1
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Cardiomyopathy, Familial Hypertrophic, 4	Hypertrophic Cardiomyopathy 4 CMH4 Cardiomyopathy, Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic 4 Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To Cardiomyopathy, Hypertrophic, Familial, Type 4
Transient Bullous Dermolysis Of The Newborn	TBDN Transient Bullous Of The Newborn Epidermolysis Bullosa Dystrophica, Neonatal Form Dystrophic Epidermolysis Bullosa, Neonatal Deb, Bullous Dermolysis Of The Newborn Deb-Bdn Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form Self-Improving Dystrophic Epidermolysis Bullosa Self-Improving Deb Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Ciliary Dyskinesia, Primary, 5	Primary Ciliary Dyskinesia 5 CILD5 Ciliary Dyskinesia, Primary, 5, Without Situs Inversus Primary Ciliary Dyskinesia 5 Without Situs Inversus Ics5 Immotile Cilia Syndrome 5 Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus Dyskinesia, Ciliary, Primary, Type 5
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Recessive Dystrophic Epidermolysis Bullosa	Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type Rdeb, Hallopeau-Siemens Type Severe Generalized Rdeb Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Rdeb Generalisata Gravis Rdeb, Severe Generalized Rdeb-Sev Gen Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized Hallopeau-Siemens Disease
Amebiasis	Amoebiasis Entamoebiasis Chronic Intestinal Amebiasis Amoebiasis, Unspecified Amebic Colitis Amoebic Enteritis Infection Due To Entamoeba Histolytica Amoebic Infection Disease Due To Endamoebidae Amoebiasis Nos
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07500	LAMA4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21622	Lama4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28140	Lama4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LAMA4	VGNC	VGNC:68005
Mus musculus	LAMA4	MGD	MGI:109321
Bos taurus	LAMA4	VGNC	VGNC:52792
Canis familiaris	LAMA4	VGNC	VGNC:54967
Macaca mulatta	LAMA4	VGNC	VGNC:74227
Rattus norvegicus	LAMA4	RGD	RGD:1560062
Others	LAMA4	NCBI