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REEP2 receptor accessory protein 2 [ Homo sapiens (human) ]

Gene ID: 51308, updated on 5-Dec-2019

Summary

Official Symbol
REEP2provided by HGNC
Official Full Name
receptor accessory protein 2provided by HGNC
Primary source
HGNC:HGNC:17975
See related
Ensembl:ENSG00000132563 MIM:609347
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPG72; Yip2d; C5orf19; SGC32445
Summary
This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Expression
Biased expression in brain (RPKM 30.0), adrenal (RPKM 4.6) and 8 other tissues See more
Orthologs

Genomic context

See REEP2 in Genome Data Viewer
Location:
5q31.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (138439057..138446965)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137774690..137782658)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cell division cycle 25C Neighboring gene family with sequence similarity 53 member C Neighboring gene lysine demethylase 3B Neighboring gene ribosomal protein L7 pseudogene 19 Neighboring gene early growth response 1

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

Phenotypes

Associated conditions

Description Tests
Spastic paraplegia 72, autosomal recessive
MedGen: C3810160 OMIM: 615625 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • Olfactory Signaling Pathway, organism-specific biosystem (from REACTOME)
    Olfactory Signaling Pathway, organism-specific biosystemMammalian Olfactory Receptor (OR) genes were discoved in rats by Linda Buck and Richard Axel, who predicted that odorants would be detected by a large family of G protein-coupled receptors (GPCRs) th...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
taste receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
endoplasmic reticulum tubular network organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport into membrane raft IEA
Inferred from Electronic Annotation
more info
 
regulation of intracellular transport IEA
Inferred from Electronic Annotation
more info
 
sensory perception of bitter taste IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sweet taste IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic microtubule IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
receptor expression-enhancing protein 2

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.

Genomic

  1. NG_033967.2 RefSeqGene

    Range
    5057..12965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271803.2NP_001258732.1  receptor expression-enhancing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001258732.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC113403
    Consensus CDS
    CCDS64259.1
    UniProtKB/Swiss-Prot
    Q9BRK0
    UniProtKB/TrEMBL
    A8K3D2
    Related
    ENSP00000367590.2, ENST00000378339.7
    Conserved Domains (1) summary
    pfam03134
    Location:1994
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  2. NM_016606.4NP_057690.2  receptor expression-enhancing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_057690.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC113403
    Consensus CDS
    CCDS4205.1
    UniProtKB/Swiss-Prot
    Q9BRK0
    UniProtKB/TrEMBL
    A8K3D2
    Related
    ENSP00000254901.5, ENST00000254901.9
    Conserved Domains (1) summary
    pfam03134
    Location:1994
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

RNA

  1. NR_073448.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate in-frame splice sites in the coding region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC113403
  2. NR_073449.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC113403
    Related
    ENST00000613650.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    138439057..138446965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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