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LAMB4 laminin subunit beta 4 [ Homo sapiens (human) ]

Gene ID: 22798, updated on 11-Apr-2024

Summary

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Official Symbol
LAMB4provided by HGNC
Official Full Name
laminin subunit beta 4provided by HGNC
Primary source
HGNC:HGNC:6491
See related
Ensembl:ENSG00000091128 MIM:616380; AllianceGenome:HGNC:6491
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to be an extracellular matrix structural constituent. Predicted to be involved in several processes, including basement membrane assembly; cell migration; and substrate adhesion-dependent cell spreading. Predicted to be located in basement membrane; extracellular region; and membrane. Predicted to be part of laminin complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in skin (RPKM 11.6), placenta (RPKM 1.2) and 1 other tissue See more
Orthologs
all
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Genomic context

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See LAMB4 in Genome Data Viewer
Location:
7q31.1
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (108011662..108130361, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (109329907..109448507, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107663998..107770806, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:107531366-107532048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:107572237-107572884 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:107572885-107573530 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:107573531-107574176 Neighboring gene VISTA enhancer hs2081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:107593919-107594462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:107595007-107595549 Neighboring gene dihydrolipoamide dehydrogenase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:107616823-107617323 Neighboring gene laminin subunit beta 1 Neighboring gene uncharacterized LOC124901861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:107641444-107642044 Neighboring gene uncharacterized LOC107986834 Neighboring gene NANOG hESC enhancer GRCh37_chr7:107674959-107675473 Neighboring gene uncharacterized LOC107986835 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:107708345-107708569 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:107717981-107718540 Neighboring gene uncharacterized LOC105375446 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:107729817-107730318 Neighboring gene uncharacterized LOC102724363 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:107821713-107822505 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:107832147-107832328 Neighboring gene neuronal cell adhesion molecule Neighboring gene ReSE screen-validated silencer GRCh37_chr7:107850882-107851039 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:107851545-107852744 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:107886326-107887525 Neighboring gene RNA, U7 small nuclear 83 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing. Coble JL, et al. Hum Mol Genet, 2017 Aug 15. PMID 28595269, Free PMC Article
  2. Laminin gene LAMB4 is somatically mutated and expressionally altered in gastric and colorectal cancers. Choi MR, et al. APMIS, 2015 Jan. PMID 25257191
  3. A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1. Schönberger J, et al. Hum Genet, 2005 Dec. PMID 16228230
  4. The complete sequence of the human locus for NgCAM-related cell adhesion molecule reveals a novel alternative exon in chick and man and conserved genomic organization for the L1 subfamily. Dry K, et al. Gene, 2001 Jul 25. PMID 11483367
  5. Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Amin N, et al. Mol Psychiatry, 2012 Nov. PMID 21876539, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Laminin beta4 is a constituent of the cutaneous basement membrane zone and additional autoantigen of anti-p200 pemphigoid.
    Title: Laminin β4 is a constituent of the cutaneous basement membrane zone and additional autoantigen of anti-p200 pemphigoid.
  2. We identified a rare single nucleotide variant in the laminin beta 4 gene (LAMB4) that segregated with familial diverticulitis in a dominant pattern and causes a damaging missense substitution (D435N). Targeted sequencing of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis patients identified two additional rare variants in the gene.
    Title: Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing.
  3. Loss of LAMB4 expression was identified in 17-32% of the GC and CRC. Of note, the loss expression was more common in the cancers with LAMB4 mutation or those with MSI-H.
    Title: Laminin gene LAMB4 is somatically mutated and expressionally altered in gastric and colorectal cancers.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in basement membrane IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
laminin subunit beta-4
Names
laminin beta-1-related protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001318046.2 → NP_001304975.1  laminin subunit beta-4 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC005048, AF028816, AK300385, BC144591
    Consensus CDS
    CCDS34732.1
    UniProtKB/Swiss-Prot
    A4D0S4, A5PKU6, B2RTT3, B5MEB9, Q86TP7, Q86XN2, Q8NBX5
    UniProtKB/TrEMBL
    B7ZMJ6
    Related
    ENSP00000205386.4, ENST00000205386.8
    Conserved Domains (5) summary
    cd00055
    Location:454 → 503
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    pfam00053
    Location:1080 → 1128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38 → 263
    Laminin_N; Laminin N-terminal (Domain VI)
    pfam07926
    Location:1609 → 1741
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    cl21504
    Location:938 → 967
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

  2. NM_001318047.2 → NP_001304976.1  laminin subunit beta-4 isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several exons, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC005048, AF029325, AK300385, BC144591
    UniProtKB/TrEMBL
    B4DTV7
    Related
    ENST00000475469.1
    Conserved Domains (3) summary
    cd00055
    Location:454 → 503
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    pfam00053
    Location:395 → 452
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:42 → 263
    Laminin_N; Laminin N-terminal (Domain VI)

  3. NM_001318048.2 → NP_001304977.1  laminin subunit beta-4 isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks several exons, and uses an alternate 3'-terminal exon, compared to variant a. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC005048, AK300385, BC142619, BC144591
    Consensus CDS
    CCDS83218.1
    UniProtKB/TrEMBL
    C9JM08, C9JMJ0, Q9UHI2
    Related
    ENSP00000402353.2, ENST00000418464.1
    Conserved Domains (4) summary
    cd00055
    Location:454 → 503
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    pfam00053
    Location:395 → 452
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:42 → 263
    Laminin_N; Laminin N-terminal (Domain VI)
    pfam13900
    Location:706 → 753
    GVQW; Putative domain of unknown function

  4. NM_007356.3 → NP_031382.2  laminin subunit beta-4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_031382.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC005048, AF028816, BC045172, DA859196
    Consensus CDS
    CCDS34732.1
    UniProtKB/Swiss-Prot
    A4D0S4, A5PKU6, B2RTT3, B5MEB9, Q86TP7, Q86XN2, Q8NBX5
    UniProtKB/TrEMBL
    B7ZMJ6
    Related
    ENSP00000373433.3, ENST00000388781.8
    Conserved Domains (5) summary
    cd00055
    Location:454 → 503
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    pfam00053
    Location:1080 → 1128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38 → 263
    Laminin_N; Laminin N-terminal (Domain VI)
    pfam07926
    Location:1609 → 1741
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    cl21504
    Location:938 → 967
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    108011662..108130361 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515975.2 → XP_011514277.1  laminin subunit beta-4 isoform X1

    UniProtKB/TrEMBL
    B7ZMJ6
    Conserved Domains (5) summary
    cd00055
    Location:454 → 503
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    TIGR04523
    Location:1254 → 1714
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    pfam00053
    Location:1080 → 1128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38 → 263
    Laminin_N; Laminin N-terminal (Domain VI)
    cl21504
    Location:938 → 967
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

  2. XM_017011879.2 → XP_016867368.1  laminin subunit beta-4 isoform X2

    UniProtKB/TrEMBL
    B7ZMJ6

  3. XM_011515979.3 → XP_011514281.1  laminin subunit beta-4 isoform X4

    UniProtKB/TrEMBL
    B7ZMJ6
    Conserved Domains (3) summary
    cd00055
    Location:454 → 503
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    pfam00053
    Location:1080 → 1128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38 → 263
    Laminin_N; Laminin N-terminal (Domain VI)

  4. XM_011515978.2 → XP_011514280.1  laminin subunit beta-4 isoform X3

    UniProtKB/TrEMBL
    B7ZMJ6
    Conserved Domains (4) summary
    cd00055
    Location:454 → 503
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    TIGR04523
    Location:1254 → 1714
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    pfam00053
    Location:1080 → 1128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38 → 263
    Laminin_N; Laminin N-terminal (Domain VI)

  5. XM_011515980.3 → XP_011514282.1  laminin subunit beta-4 isoform X6

    UniProtKB/TrEMBL
    B7ZMJ6
    Conserved Domains (3) summary
    cd00055
    Location:454 → 503
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    pfam00053
    Location:1080 → 1128
    Laminin_EGF; Laminin EGF domain
    pfam00055
    Location:38 → 263
    Laminin_N; Laminin N-terminal (Domain VI)

  6. XM_017011880.2 → XP_016867369.1  laminin subunit beta-4 isoform X5

    UniProtKB/TrEMBL
    B7ZMJ6

RNA

  1. XR_927421.2 RNA Sequence

  2. XR_927422.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    109329907..109448507 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357628.1 → XP_054213603.1  laminin subunit beta-4 isoform X1

  2. XM_054357629.1 → XP_054213604.1  laminin subunit beta-4 isoform X2

  3. XM_054357631.1 → XP_054213606.1  laminin subunit beta-4 isoform X4

  4. XM_054357630.1 → XP_054213605.1  laminin subunit beta-4 isoform X3

  5. XM_054357633.1 → XP_054213608.1  laminin subunit beta-4 isoform X6

  6. XM_054357632.1 → XP_054213607.1  laminin subunit beta-4 isoform X5

RNA

  1. XR_008487545.1 RNA Sequence

  2. XR_008487546.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A4D0S4.1 GenPept UniProtKB/Swiss-Prot:A4D0S4

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