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

Gene ID: 85415, updated on 17-May-2020

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
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

Genomic context

See RHPN2 in Genome Data Viewer
Location:
19q13.11
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (32978592..33064888, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33469498..33555824, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene centrosomal protein 89 Neighboring gene ribosomal protein L31 pseudogene 60 Neighboring gene FA core complex associated protein 24 Neighboring gene HNF1 motif-containing MPRA enhancer 165 Neighboring gene G-patch domain containing 1 Neighboring gene WD repeat domain 88

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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)

  1. NM_033103.5NP_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
    Q8IUC4
    Related
    ENSP00000254260.2, ENST00000254260.8
    Conserved Domains (3) summary
    cd09249
    Location:112496
    BRO1_Rhophilin_2; Protein-interacting Bro1-like domain of RhoA-binding protein Rhophilin-2
    cd11634
    Location:27108
    HR1_Rhophilin-2; Protein kinase C-related kinase homology region 1 (HR1) Rho-binding domain of Rhophilin-2
    cd00992
    Location:514591
    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) ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    32978592..33064888 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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