Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7905
Gene name Gene Name - the full gene name approved by the HGNC.
Receptor accessory protein 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
REEP5
Synonyms (NCBI Gene) Gene synonyms aliases
C5orf18, D5S346, DP1, POB16, TB2, YOP1, Yip2e
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q22.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027262 hsa-miR-101-3p Sequencing 20371350
MIRT028460 hsa-miR-30a-5p Proteomics 18668040
MIRT050857 hsa-miR-17-5p CLASH 23622248
MIRT042682 hsa-miR-196b-5p CLASH 23622248
MIRT608775 hsa-miR-3606-3p HITS-CLIP 23313552
Transcription factors
Transcription factor Regulation Reference
TP53 Repression 8557038
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16762630, 21900206, 23969831, 28514442, 32075961, 32296183, 33961781, 35271311
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0007029 Process Endoplasmic reticulum organization ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
125265 30077 ENSG00000129625
Protein
UniProt ID Q00765
Protein name Receptor expression-enhancing protein 5 (Polyposis locus protein 1) (Protein TB2)
Protein function Plays an essential role in heart function and development by regulating the organization and function of the sarcoplasmic reticulum in cardiomyocytes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03134 TB2_DP1_HVA22 67 144 TB2/DP1, HVA22 family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart (at protein level) (PubMed:32075961). Expressed in circumvallate papillae and testis (PubMed:16720576). {ECO:0000269|PubMed:16720576, ECO:0000269|PubMed:32075961}.
Sequence
MSAAMRERFDRFLHEKNCMTDLLAKLEAKTGVNRSFIALGVIGLVALYLVFGYGASLLCN
LIGFGYPAYISIKAIESPNKEDDTQWLTYWVVYGVFSIAEFFSDIFLSWFPFYYMLKCGF
LLWCMAPSPSNGAELLYKRIIRPF
FLKHESQMDSVVKDLKDKAKETADAITKEAKKATVN
LLGEEKKST
Sequence length 189
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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)
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
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Olfaction Disorders Associate 32642770
Pseudomyxoma Peritonei Associate 32357859
Stomach Diseases Associate 25210923