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

Gene ID: 80346, updated on 1-Aug-2020

Summary

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
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
Expression
Broad expression in skin (RPKM 22.1), testis (RPKM 16.1) and 23 other tissues See more
Orthologs

Genomic context

See REEP4 in Genome Data Viewer
Location:
8p21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (22138020..22141907, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21995533..21999448, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene nudix hydrolase 18 Neighboring gene HR lysine demethylase and nuclear receptor corepressor Neighboring gene leucine rich repeat LGI family member 3 Neighboring gene surfactant protein C

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

NHGRI GWAS Catalog

Description
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22246, FLJ22277

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
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 IDA
Inferred from Direct Assay
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 4

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

    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/Swiss-Prot
    Q9H6H4
    UniProtKB/TrEMBL
    E5RGS2
    Related
    ENSP00000428709.1, ENST00000523293.2
    Conserved Domains (1) summary
    pfam03134
    Location:794
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  2. NM_001316965.2NP_001303894.1  receptor expression-enhancing protein 4 isoform 3 precursor

    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:794
    TB2_DP1_HVA22; TB2/DP1, HVA22 family
  3. NM_025232.4NP_079508.2  receptor expression-enhancing protein 4 isoform 1 precursor

    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
    Q9H6H4
    Related
    ENSP00000303482.3, ENST00000306306.8
    Conserved Domains (1) summary
    pfam03134
    Location:1994
    TB2_DP1_HVA22; TB2/DP1, HVA22 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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