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Gene Gene information from NCBI Gene database.
Entrez ID 114822
Gene name Rhophilin Rho GTPase binding protein 1
Gene symbol RHPN1
Synonyms (NCBI Gene)
ODF5RHOPHILINRHPN
Chromosome 8
Chromosome location 8q24.3
miRNA miRNA information provided by mirtarbase database.
175 Show/Hide all (175)
miRTarBase ID miRNA Experiments Reference
MIRT040941 hsa-miR-18a-3p CLASH 23622248
MIRT1306179 hsa-miR-10a CLIP-seq
MIRT1306180 hsa-miR-10b CLIP-seq
MIRT1306181 hsa-miR-1182 CLIP-seq
MIRT1306182 hsa-miR-1233 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005829 Component Cytosol TAS
GO:0007165 Process Signal transduction IEA
GO:0051497 Process Negative regulation of stress fiber assembly IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601031 19973 ENSG00000158106
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TCX5
Protein name Rhophilin-1 (GTP-Rho-binding protein 1)
Protein function Has no enzymatic activity. May serve as a target for Rho, and interact with some cytoskeletal component upon Rho binding or relay a Rho signal to other molecules.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 513 → 590 PDZ domain Domain
PF02185 HR1 36 → 97 Hr1 repeat Family
PF03097 BRO1 109 → 510 BRO1-like domain Domain
Sequence
Sequence length 670
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
RHO GTPases Activate Rhotekin and Rhophilins
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 Reference Evidence Score
ATRIAL FIBRILLATION — GWAS catalog 40050429
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog 39046104
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME — CTD, Disgenet
CTD, Disgenet
21411543
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (21)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 31089812
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31285391 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32910747, 34095306, 37478241 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 32163372 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 32910747 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 39233606 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 31089812
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 31285391
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28124977, 31417644
★★★★★
★☆☆☆☆
Found in Text Mining only
Ovarian Diseases Ovarian diseases Pubtator 33907841, 34414458 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only