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    REEP4 receptor accessory protein 4 [ Homo sapiens (human) ]

    Gene ID: 80346, updated on 10-Dec-2024

    Summary

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    Official Symbol
    REEP4provided by HGNC
    Official Full Name
    receptor accessory protein 4provided by HGNC
    Primary source
    HGNC:HGNC:26176
    See related
    Ensembl:ENSG00000168476 MIM:609349; AllianceGenome:HGNC:26176
    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
    PP432; Yip2c; C8orf20
    Summary
    Predicted to enable microtubule binding activity. Involved in mitotic nuclear membrane reassembly. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in skin (RPKM 22.1), testis (RPKM 16.1) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See REEP4 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22138020..22141907, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22411968..22415855, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21995533..21999420, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:21964802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21965271-21966044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18979 Neighboring gene nudix hydrolase 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21969459-21969958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21972531-21973193 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:21977874-21978076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21978415-21978914 Neighboring gene HR lysine demethylase and nuclear receptor corepressor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21981891-21982392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21982393-21982892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21987125-21987702 Neighboring gene HR upstream open reading frame Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21997193-21997801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21997802-21998409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18981 Neighboring gene leucine rich repeat LGI family member 3 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:22014424 Neighboring gene surfactant protein C

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Reticulon-like REEP4 at the inner nuclear membrane promotes nuclear pore complex formation. Golchoubian B, et al. J Cell Biol, 2022 Feb 7. PMID 34874453, Free PMC Article
    2. REEP3 and REEP4 determine the tubular morphology of the endoplasmic reticulum during mitosis. Kumar D, et al. Mol Biol Cell, 2019 Jun 1. PMID 30995177, Free PMC Article
    3. REEP3/4 ensure endoplasmic reticulum clearance from metaphase chromatin and proper nuclear envelope architecture. Schlaitz AL, et al. Dev Cell, 2013 Aug 12. PMID 23911198, Free PMC Article
    4. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Clark AJ, et al. Trends Endocrinol Metab, 2005 Dec. PMID 16271481
    5. Ubiquitination regulates ER-phagy and remodelling of endoplasmic reticulum. González A, et al. Nature, 2023 Jun. PMID 37225996, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reticulon-like REEP4 at the inner nuclear membrane promotes nuclear pore complex formation.
      Title: Reticulon-like REEP4 at the inner nuclear membrane promotes nuclear pore complex formation.
    2. the endoplasmic reticulum (ER) membrane proteins REEP3 and REEP4 as major determinants of ER morphology in metaphase cells.
      Title: REEP3 and REEP4 determine the tubular morphology of the endoplasmic reticulum during mitosis.
    3. Our results show that REEP3/4 function redundantly to clear the endoplasmic reticulum from metaphase chromatin, thereby ensuring correct progression through mitosis and proper nuclear envelope architecture.
      Title: REEP3/4 ensure endoplasmic reticulum clearance from metaphase chromatin and proper nuclear envelope architecture.
    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
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22246, FLJ22277

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum tubular network organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic nuclear membrane reassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear envelope organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    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
    		  

    General protein information

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    Preferred Names
    receptor expression-enhancing protein 4

    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_001316964.2 → NP_001303893.1  receptor expression-enhancing protein 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate 3' coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC013048, BG695963, BP351388
      Consensus CDS
      CCDS83258.1
      UniProtKB/TrEMBL
      E5RGS2
      Related
      ENSP00000428709.1, ENST00000523293.2
      Conserved Domains (1) summary
      pfam03134
      Location:19 → 94
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    2. NM_001316965.2 → NP_001303894.1  receptor expression-enhancing protein 4 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate 3' coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC013048, BC050622, BP351388
      Consensus CDS
      CCDS83257.1
      UniProtKB/Swiss-Prot
      Q9H6H4
      Related
      ENSP00000333889.5, ENST00000334530.9
      Conserved Domains (1) summary
      pfam03134
      Location:7 → 94
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    3. NM_025232.4 → NP_079508.2  receptor expression-enhancing protein 4 isoform 1

      See identical proteins and their annotated locations for NP_079508.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC013048
      Consensus CDS
      CCDS6024.1
      UniProtKB/Swiss-Prot
      D3DSQ9, Q86VL1, Q9H6H4, Q9H6I5, Q9HBP4
      Related
      ENSP00000303482.3, ENST00000306306.8
      Conserved Domains (1) summary
      pfam03134
      Location:19 → 94
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      22138020..22141907 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22411968..22415855 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6H4.1 GenPept UniProtKB/Swiss-Prot:Q9H6H4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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