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

Gene ID: 80346, updated on 3-Nov-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, Nov 2024]
Expression
Broad expression in skin (RPKM 22.1), testis (RPKM 16.1) and 23 other tissues See more
Orthologs
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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: HPA RNA-seq normal tissues 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

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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 (49) 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)

Genotypes

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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