REEP2 (receptor accessory protein 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 51308
Gene name Receptor accessory protein 2
Gene symbol REEP2
Synonyms (NCBI Gene)
C5orf19SGC32445SPG72SPG72ASPG72BYip2d
Chromosome 5
Chromosome location 5q31.2
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 resu
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs111927109 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, missense variant
rs483352923 T>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs483352924 G>T Pathogenic Intron variant
rs483352925 T>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs1580980701 T>G Likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
83
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (83)
miRTarBase ID miRNA Experiments Reference
MIRT048176 hsa-miR-196a-5p CLASH 23622248
MIRT042650 hsa-miR-423-3p CLASH 23622248
MIRT666624 hsa-miR-6769a-3p HITS-CLIP 23824327
MIRT666623 hsa-miR-1207-3p HITS-CLIP 23824327
MIRT666622 hsa-miR-3127-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IMP 24388663
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005881 Component Cytoplasmic microtubule IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609347 17975 ENSG00000132563
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRK0
Protein name Receptor expression-enhancing protein 2
Protein function Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03134 TB2_DP1_HVA22 19 → 95 TB2/DP1, HVA22 family Family
Tissue specificity TISSUE SPECIFICITY: Detected in brain, heart and skeletal muscle, and at low levels in placenta, kidney and pancreas (PubMed:11161817). Expressed in circumvallate papillae (PubMed:16720576). {ECO:0000269|PubMed:11161817, ECO:0000269|PubMed:16720576}.
Sequence 
MVSWIISRLVVLIFGTLYPAYSSYKAVKTKNVKEYVKWMMYWIVFAFFTTAETLTDIVLS
WFPFYFELKIAFVIWLLSPYTKGSSVLYRKFVHPTLSNKEKEIDEYITQARDKSYETMMR
VGKRGLNLAANAAVTAAAKGVLSEKLRSFSMQDLTLIRDEDALPLQRPDGRLRPSPGSLL
DTIEDLGDDPALSLRSSTNPADSRTEASEDDMGDKAPKRAKPIKKAPKAEPLASKTLKTR
PKKKTSGGGDSA
Sequence length 252
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Olfactory Signaling Pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
105
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia 72 Likely pathogenic; Pathogenic rs1763893777, rs752698231, rs483352923, rs1580980701, rs1763822813 RCV001330517
RCV001330518
RCV003444057
RCV000991434
RCV001071608
Spastic paraplegia 72b, autosomal recessive Pathogenic rs483352924, rs483352925 RCV003444058
RCV003444059
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia 5A Uncertain significance rs149979144 RCV001825314
REEP2-related disorder Uncertain significance; Likely benign rs1248724346, rs751263971, rs752787364, rs746215414, rs138667579 RCV003391649
RCV003966459
RCV003941744
RCV003941539
RCV003933233
See cases Uncertain significance rs773035358 RCV002252401
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Parkinson Disease Associate 34092653