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EFR3B EFR3 homolog B [ Homo sapiens (human) ]

Gene ID: 22979, updated on 23-Nov-2021

Summary

Official Symbol
EFR3Bprovided by HGNC
Official Full Name
EFR3 homolog Bprovided by HGNC
Primary source
HGNC:HGNC:29155
See related
Ensembl:ENSG00000084710 MIM:616797
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
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

See EFR3B in Genome Data Viewer
Location:
2p23.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (25042076..25159135)
105.20201022 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 DNAJC27 antisense RNA 1 Neighboring gene ribosomal protein S13 pseudogene 5 Neighboring gene RNA, 7SL, cytoplasmic 856, pseudogene Neighboring gene SUCLA2 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 3202 Neighboring gene Sharpr-MPRA regulatory region 11705 Neighboring gene POMC promoter region Neighboring gene POMC distal enhancer region Neighboring gene proopiomelanocortin

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
GeneReviews: Not available
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
GeneReviews: Not available
Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

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_001319099.2NP_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_014971.2NP_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
    Q9Y2G0
    UniProtKB/TrEMBL
    B3KT90
    Related
    ENSP00000384081.3, ENST00000403714.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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