U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 51308, updated on 7-Apr-2024

    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; AllianceGenome:HGNC:17975
    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; SPG72A; SPG72B; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See REEP2 in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138439057..138446965)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138965273..138973181)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137774746..137782654)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cell division cycle 25C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16394 Neighboring gene family with sequence similarity 53 member C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137706464-137706964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137706965-137707465 Neighboring gene lysine demethylase 3B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137775379-137775912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23204 Neighboring gene CRISPRi-validated cis-regulatory element chr5.3152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23205 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:137799954-137801153 Neighboring gene Sharpr-MPRA regulatory region 15571 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
    Hereditary spastic paraplegia 72
    MedGen: C3810160 OMIM: 615625 GeneReviews: Not available
    Compare labs
    Spastic paraplegia 72b, autosomal recessive
    MedGen: CN375817 OMIM: 620606 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables taste receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum tubular network organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endoplasmic reticulum tubular network organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport into membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of intracellular transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of bitter taste IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sweet taste IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in endoplasmic reticulum tubular network IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    receptor expression-enhancing protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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/TrEMBL
      A8K3D2, A8K4Y6
      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
      Q53EM8, Q9BRK0, Q9NYF2
      UniProtKB/TrEMBL
      A8K4Y6
      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

    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_000005.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      138965273..138973181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)