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    EFR3B EFR3 homolog B [ Homo sapiens (human) ]

    Gene ID: 22979, updated on 5-Mar-2024

    Summary

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    Official Symbol
    EFR3Bprovided by HGNC
    Official Full Name
    EFR3 homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:29155
    See related
    Ensembl:ENSG00000084710 MIM:616797; AllianceGenome:HGNC:29155
    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
    KIAA0953
    Summary
    Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in actin cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 12.6), lung (RPKM 1.9) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p23.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (25042076..25159135)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (25076512..25193588)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25264945..25382004)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C27 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25194318-25194836 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25194837-25195355 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25195356-25195873 Neighboring gene DNAJC27 antisense RNA 1 Neighboring gene ribosomal protein S13 pseudogene 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25254365-25254864 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:25263953-25264902 and GRCh37_chr2:25264903-25265851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11243 Neighboring gene RNA, 7SL, cytoplasmic 856, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:25293144-25293286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25311273-25312272 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:25312273-25313271 Neighboring gene SUCLA2 pseudogene 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:25320574-25320751 Neighboring gene Sharpr-MPRA regulatory region 3202 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58220 Neighboring gene Sharpr-MPRA regulatory region 11705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25359725-25360226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25360227-25360726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25383210-25384066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11245 Neighboring gene POMC promoter region Neighboring gene POMC distal enhancer region Neighboring gene proopiomelanocortin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11246 Neighboring gene long intergenic non-protein coding RNA 1381

    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. EFR3s are palmitoylated plasma membrane proteins that control responsiveness to G-protein-coupled receptors. Bojjireddy N, et al. J Cell Sci, 2015 Jan 1. PMID 25380825, Free PMC Article
    2. The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. Baskin JM, et al. Nat Cell Biol, 2016 Jan. PMID 26571211, Free PMC Article
    3. Genome-wide association study of body mass index in 23 000 individuals with and without asthma. Melén E, et al. Clin Exp Allergy, 2013 Apr. PMID 23517042, Free PMC Article
    4. PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity. Nakatsu F, et al. J Cell Biol, 2012 Dec 10. PMID 23229899, Free PMC Article
    5. Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. Graff M, et al. Hum Mol Genet, 2013 Sep 1. PMID 23669352, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These data suggest that mammalian Efr3s contribute to the control of the phosphorylation state and, hence, desensitization of AT1a receptors, and could affect responsiveness of G-protein-coupled receptors in higher eukaryotes.
      Title: EFR3s are palmitoylated plasma membrane proteins that control responsiveness to G-protein-coupled receptors.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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
    A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
    EBI GWAS Catalog
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    EBI GWAS Catalog
    Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    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)

    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

    • KIAA0953

    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 phosphatidylinositol phosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein EFR3 homolog B

    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_001319099.2 → NP_001306028.1  protein EFR3 homolog B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC012457, AF131834, AK095190
      Consensus CDS
      CCDS82425.1
      UniProtKB/TrEMBL
      B3KT90, E7ESK9
      Related
      ENSP00000385832.1, ENST00000402191.5

    2. NM_014971.2 → NP_055786.1  protein EFR3 homolog B isoform 1

      See identical proteins and their annotated locations for NP_055786.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC012457, AC013267, AF131834, AK095190, BC049384, DA241650
      Consensus CDS
      CCDS46231.1
      UniProtKB/Swiss-Prot
      B7WPL8, Q86XU6, Q9Y2G0
      UniProtKB/TrEMBL
      B3KT90
      Related
      ENSP00000384081.3, ENST00000403714.8

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      25042076..25159135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      25076512..25193588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2G0.2 GenPept UniProtKB/Swiss-Prot:Q9Y2G0

    Gene LinkOut

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

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