Rhpn2 rhophilin, Rho GTPase binding protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rhpn2provided by MGI
Official Full Name: rhophilin, Rho GTPase binding protein 2provided by MGI
Primary source: MGI:MGI:1289234
See related: Ensembl:ENSMUSG00000030494 AllianceGenome:MGI:1289234
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D7Ertd784e; 1300002E07Rik
Summary: Acts upstream of or within glomerular filtration. Predicted to be located in perinuclear region of cytoplasm and plasma membrane. Is expressed in several structures, including adipose tissue; bone; liver; spleen; and tail unsegmented mesenchyme. Orthologous to several human genes including RHPN2 (rhophilin Rho GTPase binding protein 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in colon adult (RPKM 23.4), large intestine adult (RPKM 13.8) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B2; 7 21.36 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (35033605..35091712)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (35334180..35392287)

Chromosome 7 - NC_000073.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[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].
Mice lacking rhophilin 2 develop normally, have normal life spans, and are fertile; rhophilin 2 does not play an essential role in thyroid physiology
Title: Normal thyroid structure and function in rhophilin 2-deficient mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Bhm20 (e-PCR), detects polymorphism
- UniSTS:141619

AW124591 (e-PCR)
- UniSTS:179556

RH124304 (e-PCR)
- UniSTS:161126

D7Ertd784e (e-PCR), detects polymorphism
- UniSTS:167548

D7Mit225 (e-PCR), detects polymorphism
- UniSTS:116711

RH127239 (e-PCR)
- UniSTS:208106

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

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

Component	Evidence Code	Pubs
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: rhophilin-2

Names: GTP-Rho-binding protein 2

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_027897.4 → NP_082173.3 rhophilin-2

See identical proteins and their annotated locations for NP_082173.3

Status: VALIDATED

Source sequence(s)

AC154126, AK004849, CJ080543

Consensus CDS

CCDS21148.1

UniProtKB/Swiss-Prot

Q8BWR8, Q9DBN2

UniProtKB/TrEMBL

Q497Z4

Related

ENSMUSP00000032705.7, ENSMUST00000032705.13

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:522 → 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) ...