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    LRATD2 LRAT domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 157638, updated on 9-Dec-2024

    Summary

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    Official Symbol
    LRATD2provided by HGNC
    Official Full Name
    LRAT domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:24166
    See related
    Ensembl:ENSG00000168672 MIM:609483; AllianceGenome:HGNC:24166
    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
    NSE2; FAM84B; BCMP101
    Summary
    Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 18.2), salivary gland (RPKM 11.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRATD2 in Genome Data Viewer
    Location:
    8q24.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (126552443..126558478, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (127679604..127685649, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (127564688..127570723, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375750 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:127534858-127535674 Neighboring gene RNA, U6 small nuclear 869, pseudogene Neighboring gene MPRA-validated peak7170 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:127559131-127559886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:127564099-127564608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19521 Neighboring gene uncharacterized LOC105375751 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:127570125-127570961 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:127591655-127592462 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:127592463-127593270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:127593271-127594077 Neighboring gene zinc finger protein 724-like Neighboring gene Sharpr-MPRA regulatory region 547 Neighboring gene RNA, U11 small nuclear 4, 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. FAM84B, amplified in pancreatic ductal adenocarcinoma, promotes tumorigenesis through the Wnt/β-catenin pathway. Zhang X, et al. Aging (Albany NY), 2020 Apr 14. PMID 32291380, Free PMC Article
    2. Upregulation of FAM84B during prostate cancer progression. Wong N, et al. Oncotarget, 2017 Mar 21. PMID 28186973, Free PMC Article
    3. Circulating mRNA Profiling in Esophageal Squamous Cell Carcinoma Identifies FAM84B As A Biomarker In Predicting Pathological Response to Neoadjuvant Chemoradiation. Hsu FM, et al. Sci Rep, 2015 May 18. PMID 25980316, Free PMC Article
    4. Long non-coding RNA FAM84B-AS promotes resistance of gastric cancer to platinum drugs through inhibition of FAM84B expression. Zhang Y, et al. Biochem Biophys Res Commun, 2019 Feb 12. PMID 30638658
    5. The Oncogenic Potential of the Centromeric Border Protein FAM84B of the 8q24.21 Gene Desert. Gu Y, et al. Genes (Basel), 2020 Mar 15. PMID 32183428, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM84B promotes breast cancer tumorigenesis through activation of the NF-kappaB and death receptor signaling pathways.
      Title: FAM84B promotes breast cancer tumorigenesis through activation of the NF-κB and death receptor signaling pathways.
    2. FAM84B promotes the proliferation of glioma cells through the cell cycle pathways.
      Title: FAM84B promotes the proliferation of glioma cells through the cell cycle pathways.
    3. FAM84B acts as a tumor promoter in human glioma via affecting the Akt/GSK-3beta/beta-catenin pathway.
      Title: FAM84B acts as a tumor promoter in human glioma via affecting the Akt/GSK-3β/β-catenin pathway.
    4. Identification of Hub Genes in Gastric Cancer with High Heterogeneity Based on Weighted Gene Co-Expression Network.
      Title: Identification of Hub Genes in Gastric Cancer with High Heterogeneity Based on Weighted Gene Co-Expression Network.
    5. FAM84B, amplified in pancreatic ductal adenocarcinoma, promotes tumorigenesis through the Wnt/beta-catenin pathway.
      Title: FAM84B, amplified in pancreatic ductal adenocarcinoma, promotes tumorigenesis through the Wnt/β-catenin pathway.
    6. The Oncogenic Potential of the Centromeric Border Protein FAM84B of the 8q24.21 Gene Desert.
      Title: The Oncogenic Potential of the Centromeric Border Protein FAM84B of the 8q24.21 Gene Desert.
    7. non-coding RNA (lncRNA) FAM84B-AS promotes resistance of Gastric Cancer to platinum drugs through inhibition of FAM84B expression.
      Title: Long non-coding RNA FAM84B-AS promotes resistance of gastric cancer to platinum drugs through inhibition of FAM84B expression.
    8. High FAM84B expression is associated with prostate cancer progression.
      Title: Upregulation of FAM84B during prostate cancer progression.
    9. Data suggest that FAM84B protein and the NOTCH pathway are involved in the progression of esophageal squamous cell carcinoma (ESCC) and may be potential diagnostic targets for ESCC susceptibility.
      Title: Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.
    10. We demonstrated the decreased of circulating FAM84B mRNA and protein after neoadjuvant CRT may predict pCR, and FAM84B protein is overexpressed in ESCC.
      Title: Circulating mRNA Profiling in Esophageal Squamous Cell Carcinoma Identifies FAM84B As A Biomarker In Predicting Pathological Response to Neoadjuvant Chemoradiation.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein LRATD2
    Names
    breast cancer membrane protein 101
    breast cancer membrane-associated protein 101
    family with sequence similarity 84 member B
    neurological/sensory 2
    protein FAM84B

    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_174911.5 → NP_777571.1  protein LRATD2

      See identical proteins and their annotated locations for NP_777571.1

      Status: VALIDATED

      Source sequence(s)
      AC084116, AK074285
      Consensus CDS
      CCDS6358.1
      UniProtKB/Swiss-Prot
      Q96KN1
      UniProtKB/TrEMBL
      A8K9V9
      Related
      ENSP00000302578.3, ENST00000304916.4
      Conserved Domains (1) summary
      cl21534
      Location:130 → 212
      NLPC_P60; NlpC/P60 family

    RNA

    1. NR_156466.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC084116, BE221581, BE326721, CB985735, CX788171

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      126552443..126558478 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013107.3 → XP_016868596.1  protein LRATD2 isoform X1

      UniProtKB/Swiss-Prot
      Q96KN1
      UniProtKB/TrEMBL
      A8K9V9
      Conserved Domains (1) summary
      cl21534
      Location:130 → 212
      NLPC_P60; NlpC/P60 family

    2. XM_017013108.3 → XP_016868597.1  protein LRATD2 isoform X2

      UniProtKB/TrEMBL
      A8K9V9
      Conserved Domains (1) summary
      cl21534
      Location:112 → 194
      NLPC_P60; NlpC/P60 family

    RNA

    1. XR_007060705.1 RNA Sequence

    2. XR_007060704.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      127679604..127685649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359813.1 → XP_054215788.1  protein LRATD2 isoform X2

      UniProtKB/TrEMBL
      A8K9V9

    RNA

    1. XR_008487812.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96KN1.1 GenPept UniProtKB/Swiss-Prot:Q96KN1

    Gene LinkOut

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

    Chemical Information
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