Gene Gene information from NCBI Gene database.
Entrez ID 85415
Gene name Rhophilin Rho GTPase binding protein 2
Gene symbol RHPN2
Synonyms (NCBI Gene)
P76RBERHOBP
Chromosome 19
Chromosome location 19q13.11
Summary This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by R
miRNA miRNA information provided by mirtarbase database.
349
miRTarBase ID miRNA Experiments Reference
MIRT028291 hsa-miR-32-5p Sequencing 20371350
MIRT048413 hsa-miR-100-5p CLASH 23622248
MIRT736300 hsa-miR-146b-5p Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry 33877886
MIRT736301 hsa-miR-146a-5p Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry 33877886
MIRT1306283 hsa-let-7a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0003094 Process Glomerular filtration IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IDA 25071083
GO:0007165 Process Signal transduction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617932 19974 ENSG00000131941
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IUC4
Protein name Rhophilin-2 (76 kDa RhoB effector protein) (GTP-Rho-binding protein 2) (p76RBE)
Protein function Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity.
PDB 2VSV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02185 HR1 39 102 Hr1 repeat Family
PF03097 BRO1 112 516 BRO1-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in prostate, trachea, stomach, colon, thyroid and pancreas. Expressed at lower level in brain, spinal cord, kidney, placenta and liver. {ECO:0000269|PubMed:12221077, ECO:0000269|PubMed:12473120}.
Sequence
Sequence length 686
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RHO GTPases Activate Rhotekin and Rhophilins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLON CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM GWAS catalog
★★☆☆☆
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
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 19011631, 24737748, 29917119, 30510241, 30529582, 31089142
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Carcinoid Tumor Carcinoid tumor Pubtator 29422640 Associate
★☆☆☆☆
Found in Text Mining only
Cleft Palate Cleft palate Pubtator 31262291 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 19011631, 22367214, 25799222, 26349980
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASCAT_DG 19011631, 24737748, 29917119, 30510241, 30529582, 31089142
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer CTD_human_DG 19011631
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASDB_DG 19011631, 24737748
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms CTD_human_DG 19011631
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Colorectal Neoplasms GWASCAT_DG 19011631, 24737748, 29917119, 30510241, 30529582, 31089142
★★☆☆☆
Found in Text Mining + Unknown/Other Associations