RHPN2 rhophilin Rho GTPase binding protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RHPN2provided by HGNC
Official Full Name: rhophilin Rho GTPase binding protein 2provided by HGNC
Primary source: HGNC:HGNC:19974
See related: Ensembl:ENSG00000131941 MIM:617932; AllianceGenome:HGNC:19974
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RHOBP; P76RBE
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 RefSeq, Apr 2009]
Expression: Broad expression in colon (RPKM 18.4), prostate (RPKM 16.3) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.11

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (32978592..33064888, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (35497266..35583576, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (33469498..33555794, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long Noncoding RNA RP11-89K21.1 Interacts with miR-146a/b-5p to Promote Proliferation and Gefitinib Resistance Through Regulating RHPN2 and RhoA/ROCK Pathway in Lung Adenocarcinoma.
Title: Long Noncoding RNA RP11-89K21.1 Interacts with miR-146a/b-5p to Promote Proliferation and Gefitinib Resistance Through Regulating RHPN2 and RhoA/ROCK Pathway in Lung Adenocarcinoma.
[RHPN2 is highly expressed in osteosarcoma cells to promote cell proliferation and migration and inhibit apoptosis].
Title: [RHPN2 is highly expressed in osteosarcoma cells to promote cell proliferation and migration and inhibit apoptosis].
P76RBE silencing inhibits ovarian cancer cell proliferation, migration, and invasion via suppressing the integrin beta1/NF-kappaB pathway.
Title: P76RBE silencing inhibits ovarian cancer cell proliferation, migration, and invasion via suppressing the integrin β1/NF-κB pathway.
The hBMSCs-derived exosomal miR-205 retards prostate cancer progression by inhibiting RHPN2, suggesting that miR-205 may present a predictor and potential therapeutic target for prostate cancer.
Title: Human bone marrow mesenchymal stem cells-derived microRNA-205-containing exosomes impede the progression of prostate cancer through suppression of RHPN2.
It may contribute to the pathogenesis of nonsyndromic orofacial clefts in Chinese populations.
Title: Genetic variants of MGMT, RHPN2, and FAM49A contributed to susceptibility of nonsyndromic orofacial clefts in a Chinese population.
We found significant association between RHPN2 gene rs10411210 and colorectal cancer in European and Asian populations, but not American population
Title: Analyzing large-scale samples highlights significant association between rs10411210 polymorphism and colorectal cancer.
Single nucleotide polymorphism in RHPN2 gene is associated with colorectal cancer.
Title: Association between GWAS-identified genetic variations and disease prognosis for patients with colorectal cancer.
These effects were implemented through RHPN2-mediated activation of RhoA.
Title: RHPN2 drives mesenchymal transformation in malignant glioma by triggering RhoA activation.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype.
Observational study of gene-disease association. (HuGE Navigator)
Title: Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in glomerular filtration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of stress fiber assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rhophilin-2

Names: 76 kDa RhoB effector protein; GTP-Rho-binding protein 2; rhophilin-like Rho-GTPase binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_033103.5 → NP_149094.3 rhophilin-2

See identical proteins and their annotated locations for NP_149094.3

Status: REVIEWED

Source sequence(s)

AC011449, AJ347750, BC036447, DC348657

Consensus CDS

CCDS12427.1

UniProtKB/Swiss-Prot

A8MT19, B2RCG8, B3KUY8, B4DUS7, Q8IUC4, Q8N3T7, Q8N9D6, Q8NE33, Q96RU1

Related

ENSP00000254260.2, ENST00000254260.8

Conserved Domains (3) summary

cd09249
Location:112 → 496

BRO1_Rhophilin_2; Protein-interacting Bro1-like domain of RhoA-binding protein Rhophilin-2

cd11634
Location:27 → 108

HR1_Rhophilin-2; Protein kinase C-related kinase homology region 1 (HR1) Rho-binding domain of Rhophilin-2

cd00992
Location:514 → 591

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...