Gene Gene information from NCBI Gene database.
Entrez ID 7905
Gene name Receptor accessory protein 5
Gene symbol REEP5
Synonyms (NCBI Gene)
C5orf18D5S346DP1POB16TB2YOP1Yip2e
Chromosome 5
Chromosome location 5q22.2
miRNA miRNA information provided by mirtarbase database.
849
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TP53 Repression 8557038
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
125265 30077 ENSG00000129625
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 10482959, 14624392, 16682279, 17169185, 22795047, 8208405, 8224634, 8276387
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 11920740
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 11870883, 27966653
★☆☆☆☆
Found in Text Mining only
Cholestasis Cholestasis CTD_human_DG 26881866
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon Carcinoma Colon Carcinoma BEFREE 27158137
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms BEFREE 10667431
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 10819367, 11392877, 16427780, 16682279, 16762630, 19147861, 20703819, 24286815, 24408015, 31179189
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 29431104
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 15350299, 30443012
★☆☆☆☆
Found in Text Mining only
Eosinophilic esophagitis Eosinophilia BEFREE 30989466
★☆☆☆☆
Found in Text Mining only