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REEP3 receptor accessory protein 3 [ Homo sapiens (human) ]

Gene ID: 221035, updated on 24-Nov-2020

Summary

Official Symbol
REEP3provided by HGNC
Official Full Name
receptor accessory protein 3provided by HGNC
Primary source
HGNC:HGNC:23711
See related
Ensembl:ENSG00000165476 MIM:609348
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
Yip2b; C10orf74
Expression
Ubiquitous expression in fat (RPKM 7.0), small intestine (RPKM 6.5) and 25 other tissues See more
Orthologs

Genomic context

See REEP3 in Genome Data Viewer
Location:
10q21.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (63521353..63625128)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (65281113..65384883)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene jumonji domain containing 1C Neighboring gene uncharacterized LOC105378330 Neighboring gene JMJD1C antisense RNA 1 Neighboring gene uncharacterized LOC105378329 Neighboring gene uncharacterized LOC101929846 Neighboring gene uncharacterized LOC107984238 Neighboring gene mitochondrial ribosomal protein L35 pseudogene 2

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- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
GeneReviews: Not available
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.
GeneReviews: Not available
Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.
GeneReviews: Not available
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC87479

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum tubular network organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic nuclear envelope reassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear envelope organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum tubular network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
receptor expression-enhancing protein 3

NCBI Reference Sequences (RefSeq)

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_001001330.3NP_001001330.1  receptor expression-enhancing protein 3

    See identical proteins and their annotated locations for NP_001001330.1

    Status: VALIDATED

    Source sequence(s)
    AC022387, BC068557
    Consensus CDS
    CCDS44411.1
    UniProtKB/Swiss-Prot
    Q6NUK4
    UniProtKB/TrEMBL
    X5DR89
    Related
    ENSP00000362863.4, ENST00000373758.5
    Conserved Domains (1) summary
    pfam03134
    Location:1995
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    63521353..63625128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539501.2XP_011537803.1  receptor expression-enhancing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011537803.1

    UniProtKB/TrEMBL
    X5DP57
    Conserved Domains (1) summary
    pfam03134
    Location:794
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  2. XM_017015896.1XP_016871385.1  receptor expression-enhancing protein 3 isoform X1

    UniProtKB/TrEMBL
    X5DP57
    Conserved Domains (1) summary
    pfam03134
    Location:794
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
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