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    LRRC4 leucine rich repeat containing 4 [ Homo sapiens (human) ]

    Gene ID: 64101, updated on 11-Apr-2024

    Summary

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    Official Symbol
    LRRC4provided by HGNC
    Official Full Name
    leucine rich repeat containing 4provided by HGNC
    Primary source
    HGNC:HGNC:15586
    See related
    Ensembl:ENSG00000128594 MIM:610486; AllianceGenome:HGNC:15586
    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
    Also known as
    NAG14; NGL-2
    Summary
    Predicted to be involved in modulation of chemical synaptic transmission and synapse organization. Predicted to act upstream of or within synapse organization. Predicted to be located in neuron spine and postsynaptic membrane. Predicted to be active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and plasma membrane. Predicted to be integral component of postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 14.4), adrenal (RPKM 3.2) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC4 in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128027071..128032128, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (129338751..129343964, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (127667124..127671490, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene staphylococcal nuclease and tudor domain containing 1 Neighboring gene CD2 cytoplasmic tail binding protein 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18596 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:127540623-127541156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:127583497-127583998 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:127583999-127584498 Neighboring gene MPRA-validated peak6714 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127658625-127659175 Neighboring gene SND1 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18600 Neighboring gene uncharacterized LOC124901743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127706407-127706907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127716659-127717160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127717161-127717660 Neighboring gene microRNA 593

    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. Leucine-rich repeats containing 4 protein (LRRC4) in memory, psychoneurosis, and glioblastoma. Deng K, et al. Chin Med J (Engl), 2023 Jan 5. PMID 36780420, Free PMC Article
    2. LRRC4 haplotypes are associated with pituitary adenoma in a Chinese population. Xiao L, et al. Med Oncol, 2014 Apr. PMID 24563334
    3. Promoter hypermethylation-mediated inactivation of LRRC4 in gliomas. Zhang Z, et al. BMC Mol Biol, 2008 Nov 3. PMID 18976507, Free PMC Article
    4. LRRC4 inhibits glioblastoma cell proliferation, migration, and angiogenesis by downregulating pleiotropic cytokine expression and responses. Wu M, et al. J Cell Physiol, 2008 Jan. PMID 17541939
    5. LRRC4 controls in vitro invasion of glioblastoma cells through inhibiting RPTP-zeta expression. Wu M, et al. J Neurooncol, 2006 Nov. PMID 16941076

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Leucine-rich repeats containing 4 protein (LRRC4) in memory, psychoneurosis, and glioblastoma.
      Title: Leucine-rich repeats containing 4 protein (LRRC4) in memory, psychoneurosis, and glioblastoma.
    2. Leucine-rich repeat containing 4 act as an autophagy inhibitor that restores sensitivity of glioblastoma to temozolomide.
      Title: Leucine-rich repeat containing 4 act as an autophagy inhibitor that restores sensitivity of glioblastoma to temozolomide.
    3. High LRRC4 expression is associated with Liposarcoma .
      Title: Identification of Coiled-Coil Domain-Containing Protein 180 and Leucine-Rich Repeat-Containing Protein 4 as Potential Immunohistochemical Markers for Liposarcoma Based on Proteomic Analysis Using Formalin-Fixed, Paraffin-Embedded Tissue.
    4. Results show a strong negative correlation between the expression of miR-381 and LRRC4 in osteosarcoma (OS) tissues, indicating LRRC4 as a direct target gene of miR-381.
      Title: Low expression of miR-381 is a favorite prognosis factor and enhances the chemosensitivity of osteosarcoma.
    5. Following EGF stimuli, the D domain of LRRC4 anchors ERK1/2 in the cytoplasm and abrogates ERK1/2 activation and nuclear translocation.
      Title: The D Domain of LRRC4 anchors ERK1/2 in the cytoplasm and competitively inhibits MEK/ERK activation in glioma cells.
    6. polymorphisms and haplotypes in the LRRC4 may have a role in pituitary adenoma in a Chinese population
      Title: LRRC4 haplotypes are associated with pituitary adenoma in a Chinese population.
    7. Disturbing miR-182 and -381 inhibits BRD7 transcription and glioma growth by directly targeting LRRC4.
      Title: Disturbing miR-182 and -381 inhibits BRD7 transcription and glioma growth by directly targeting LRRC4.
    8. LRRC4 inhibited the miR-185 pathway function in glioma
      Title: LRRC4 inhibits glioma cell growth and invasion through a miR-185-dependent pathway.
    9. Potentially, modulation of LRRC4 or STMN1 expression may be useful for design of new therapies for the intervention of glioma
      Title: LRRC4 inhibits the proliferation of human glioma cells by modulating the expression of STMN1 and microtubule polymerization.
    10. As a glioma suppressor, LRRC4 inhibits the endogenous expression of small regulatory microRNA hsa-miR-381 and decreases cell proliferation and tumor growth in cultured glioma cells.
      Title: Interaction of hsa-miR-381 and glioma suppressor LRRC4 is involved in glioma growth.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC133342, MGC133343

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in excitatory synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in modulation of chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in postsynaptic density protein 95 clustering IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic membrane adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in excitatory synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in postsynaptic density membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 4
    Names
    brain tumor associated protein LRRC4
    brain tumor-associated protein BAG
    nasopharyngeal carcinoma-associated gene 14 protein
    netrin-G ligand-2
    netrin-G2 ligand

    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_022143.5 → NP_071426.1  leucine-rich repeat-containing protein 4 precursor

      See identical proteins and their annotated locations for NP_071426.1

      Status: VALIDATED

      Source sequence(s)
      AC008039, AF196976, BC111745, BU682120
      Consensus CDS
      CCDS5799.1
      UniProtKB/Swiss-Prot
      A4D0Y9, Q14DU9, Q6ZMI8, Q96A85, Q9HBW1
      Related
      ENSP00000249363.3, ENST00000249363.4
      Conserved Domains (5) summary
      smart00013
      Location:46 → 79
      LRRNT; Leucine rich repeat N-terminal domain
      smart00082
      Location:300 → 351
      LRRCT; Leucine rich repeat C-terminal domain
      smart00409
      Location:359 → 441
      IG; Immunoglobulin
      COG4886
      Location:74 → 291
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:77 → 100
      LRR_RI; leucine-rich repeat [structural motif]

    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
      128027071..128032128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516461.4 → XP_011514763.1  leucine-rich repeat-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011514763.1

      UniProtKB/Swiss-Prot
      A4D0Y9, Q14DU9, Q6ZMI8, Q96A85, Q9HBW1
      Conserved Domains (5) summary
      smart00013
      Location:46 → 79
      LRRNT; Leucine rich repeat N-terminal domain
      smart00082
      Location:300 → 351
      LRRCT; Leucine rich repeat C-terminal domain
      smart00409
      Location:359 → 441
      IG; Immunoglobulin
      COG4886
      Location:74 → 291
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:77 → 100
      LRR_RI; leucine-rich repeat [structural motif]

    2. XM_047420695.1 → XP_047276651.1  leucine-rich repeat-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      A4D0Y9, Q14DU9, Q6ZMI8, Q96A85, Q9HBW1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      129338751..129343964 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358784.1 → XP_054214759.1  leucine-rich repeat-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      A4D0Y9, Q14DU9, Q6ZMI8, Q96A85, Q9HBW1

    2. XM_054358783.1 → XP_054214758.1  leucine-rich repeat-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      A4D0Y9, Q14DU9, Q6ZMI8, Q96A85, Q9HBW1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HBW1.2 GenPept UniProtKB/Swiss-Prot:Q9HBW1

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