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Gene Gene information from NCBI Gene database.
Entrez ID 80346
Gene name Receptor accessory protein 4
Gene symbol REEP4
Synonyms (NCBI Gene)
C8orf20PP432Yip2c
Chromosome 8
Chromosome location 8p21.3
miRNA miRNA information provided by mirtarbase database.
152 Show/Hide all (152)
miRTarBase ID miRNA Experiments Reference
MIRT032360 hsa-let-7b-5p Proteomics 18668040
MIRT041356 hsa-miR-193b-3p CLASH 23622248
MIRT041356 hsa-miR-193b-3p CLASH 23622248
MIRT040173 hsa-miR-615-3p CLASH 23622248
MIRT439789 hsa-miR-377-3p HITS-CLIP 24374217
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15 Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15778465, 32296183, 33961781, 36931259
GO:0005783 Component Endoplasmic reticulum IDA 23911198
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609349 26176 ENSG00000168476
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H6H4
Protein name Receptor expression-enhancing protein 4
Protein function Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from
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: Expressed in circumvallate papillae and testis. {ECO:0000269|PubMed:16720576}.
Sequence
MVSWMICRLVVLVFGMLCPAYASYKAVKTKNIREYVRWMMYWIVFALFMAAEIVTDIFIS
WFPFYYEIKMAFVLWLLSPYTKGASLLYRKFVHPS
LSRHEKEIDAYIVQAKERSYETVLS
FGKRGLNIAASAAVQAATKSQGALAGRLRSFSMQDLRSISDAPAPAYHDPLYLEDQVSHR
RPPIGYRAGGLQDSDTEDECWSDTEAVPRAPARPREKPLIRSQSLRVVKRKPPVREGTSR
SLKVRTRKKTVPSDVDS
Sequence length 257
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Olfactory Signaling Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Cervical cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
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
Blepharospasm Blepharospasm BEFREE 30956059
★★★★★
★☆☆☆☆
Found in Text Mining only
Blepharospasm Blepharospasm Pubtator 30956059 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 38552216 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only