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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
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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.

Chemical Information
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