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

    Gene ID: 22798, updated on 2-Nov-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 involved in cell adhesion. Predicted to be located in basement membrane and extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (108011662..108130361, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (109329907..109448507, complement)
    RS_2024_09 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 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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    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)

    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

    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    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_2024_08

    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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