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    LMBRD2 LMBR1 domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 92255, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LMBRD2provided by HGNC
    Official Full Name
    LMBR1 domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:25287
    See related
    Ensembl:ENSG00000164187 MIM:619490; AllianceGenome:HGNC:25287
    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
    DENBA
    Summary
    Involved in adrenergic receptor signaling pathway. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 10.2), thyroid (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LMBRD2 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (36098407..36151887, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (36346691..36400223, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (36098509..36151989, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene UDP glycosyltransferase family 3 member A1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:36040865-36041365 Neighboring gene UDP glycosyltransferase family 3 member A2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:36060047-36060547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22475 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:36151273-36152256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22476 Neighboring gene RNA, U6 small nuclear 1305, pseudogene Neighboring gene microRNA 580 Neighboring gene S-phase kinase associated protein 2 Neighboring gene NAD kinase 2, mitochondrial Neighboring gene NADK2 antisense RNA 1

    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. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. Malhotra A, et al. J Med Genet, 2021 Oct. PMID 32820033, Free PMC Article
    2. Multidimensional Tracking of GPCR Signaling via Peroxidase-Catalyzed Proximity Labeling. Paek J, et al. Cell, 2017 Apr 6. PMID 28388415, Free PMC Article
    3. Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia. Yang JJ, et al. JAMA, 2009 Jan 28. PMID 19176441, Free PMC Article
    4. Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8. Ferrada E, et al. J Mol Biol, 2024 Jan 15. PMID 38070861
    5. Interactome Analysis of Human Phospholipase D and Phosphatidic Acid-Associated Protein Network. Kattan RE, et al. Mol Cell Proteomics, 2022 Feb. PMID 35007762, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
      Title: De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
    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

    Associated conditions

    Description Tests
    Developmental delay with variable neurologic and brain abnormalities
    MedGen: C5562060 OMIM: 619694 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC125692, MGC125693, DKFZp434H2226, DKFZp686G1057

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in adrenergic receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adrenergic receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    G-protein coupled receptor-associated protein LMBRD2
    Names
    LMBR1 domain-containing protein 2

    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_001007527.2 → NP_001007528.1  G-protein coupled receptor-associated protein LMBRD2

      See identical proteins and their annotated locations for NP_001007528.1

      Status: VALIDATED

      Source sequence(s)
      AC008942, AK091295, AL137370, BX647340, CR749399
      Consensus CDS
      CCDS34145.1
      UniProtKB/Swiss-Prot
      B3KRB6, Q68DH5, Q9NTC7
      UniProtKB/TrEMBL
      B4DTZ7
      Related
      ENSP00000296603.4, ENST00000296603.5
      Conserved Domains (1) summary
      pfam04791
      Location:1 → 549
      LMBR1; LMBR1-like membrane protein

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      36098407..36151887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514162.3 → XP_011512464.1  G-protein coupled receptor-associated protein LMBRD2 isoform X1

      See identical proteins and their annotated locations for XP_011512464.1

      UniProtKB/Swiss-Prot
      B3KRB6, Q68DH5, Q9NTC7
      UniProtKB/TrEMBL
      B4DTZ7
      Conserved Domains (1) summary
      pfam04791
      Location:1 → 549
      LMBR1; LMBR1-like membrane protein

    2. XM_047417877.1 → XP_047273833.1  G-protein coupled receptor-associated protein LMBRD2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      36346691..36400223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353796.1 → XP_054209771.1  G-protein coupled receptor-associated protein LMBRD2 isoform X1

      UniProtKB/Swiss-Prot
      B3KRB6, Q68DH5, Q9NTC7

    2. XM_054353797.1 → XP_054209772.1  G-protein coupled receptor-associated protein LMBRD2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68DH5.1 GenPept UniProtKB/Swiss-Prot:Q68DH5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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