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

Gene ID: 92255, updated on 3-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
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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 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

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