RHPN2

rhophilin Rho GTPase binding protein 2, the group of PDZ domain containing

Basic information

Region (hg38): 19:32978592-33064888

Links

ENSG00000131941NCBI:85415OMIM:617932HGNC:19974Uniprot:Q8IUC4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RHPN2 gene.

  • not_specified (82 variants)
  • not_provided (8 variants)
  • Infantile_epilepsy_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHPN2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033103.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
77
clinvar
6
clinvar
3
clinvar
86
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 77 7 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RHPN2protein_codingprotein_codingENST00000254260 1586296
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.07e-70.9971257120361257480.000143
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3153693860.9550.00002554458
Missense in Polyphen97119.310.813021487
Synonymous1.271451660.8750.00001201335
Loss of Function2.651733.60.5060.00000170395

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003800.000380
Ashkenazi Jewish0.00009930.0000992
East Asian0.0003810.000272
Finnish0.00004620.0000462
European (Non-Finnish)0.0001060.000105
Middle Eastern0.0003810.000272
South Asian0.00009800.0000980
Other0.0003270.000326

dbNSFP

Source: dbNSFP

Function
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. {ECO:0000269|PubMed:12221077}.;
Pathway
G13 Signaling Pathway;Signal Transduction;RHO GTPases Activate Rhotekin and Rhophilins;RHO GTPase Effectors;Signaling by Rho GTPases (Consensus)

Recessive Scores

pRec
0.102

Intolerance Scores

loftool
0.744
rvis_EVS
0
rvis_percentile_EVS
54.07

Haploinsufficiency Scores

pHI
0.191
hipred
Y
hipred_score
0.590
ghis
0.426

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.539

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Rhpn2
Phenotype
normal phenotype;

Gene ontology

Biological process
signal transduction
Cellular component
cytosol;perinuclear region of cytoplasm
Molecular function