GMIP

GEM interacting protein, the group of AH/BAR family Rho GTPase activating proteins

Basic information

Region (hg38): 19:19629476-19643657

Links

ENSG00000089639NCBI:51291OMIM:609694HGNC:24852Uniprot:Q9P107AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • not_specified (116 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GMIP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016573.4. 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
3
clinvar
3
missense
111
clinvar
5
clinvar
116
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 111 8 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GMIPprotein_codingprotein_codingENST00000203556 2114192
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.88e-101.001257030451257480.000179
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.484346060.7160.00004076143
Missense in Polyphen128209.880.609872009
Synonymous1.672332680.8700.00001912055
Loss of Function3.162447.50.5050.00000254506

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007060.000702
Ashkenazi Jewish0.000.00
East Asian0.0001120.000109
Finnish0.00009730.0000924
European (Non-Finnish)0.0002140.000211
Middle Eastern0.0001120.000109
South Asian0.00006580.0000653
Other0.0003260.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Stimulates, in vitro and in vivo, the GTPase activity of RhoA. {ECO:0000269|PubMed:12093360}.;
Pathway
Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

pRec
0.127

Intolerance Scores

loftool
0.604
rvis_EVS
0.32
rvis_percentile_EVS
72.83

Haploinsufficiency Scores

pHI
0.429
hipred
Y
hipred_score
0.595
ghis
0.567

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.736

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Gmip
Phenotype

Gene ontology

Biological process
negative regulation of GTPase activity;intracellular signal transduction;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
Cellular component
nucleoplasm;cytosol;plasma membrane
Molecular function
GTPase activator activity;protein binding;metal ion binding