REEP2 (receptor accessory protein 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51308
Gene name Gene Name - the full gene name approved by the HGNC.
Receptor accessory protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
REEP2
Synonyms (NCBI Gene) Gene synonyms aliases
C5orf19, SGC32445, SPG72, SPG72A, SPG72B, Yip2d
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609347 17975 ENSG00000132563
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 72 rs1763822813, rs483352923, rs1580980701 N/A
Spastic Paraplegia Spastic paraplegia 72b, autosomal recessive rs483352924, rs483352925 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Parkinson Disease Associate 34092653