IQGAP3

IQ motif containing GTPase activating protein 3, the group of IQ motif containing GTPase activating protein family

Basic information

Region (hg38): 1:156525405-156572604

Links

ENSG00000183856NCBI:128239HGNC:20669Uniprot:Q86VI3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IQGAP3 gene.

  • not_specified (230 variants)
  • IQGAP3-related_disorder (32 variants)
  • not_provided (18 variants)
  • Motor_and_sensory_neuropathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQGAP3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178229.5. 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
17
clinvar
3
clinvar
20
missense
222
clinvar
19
clinvar
6
clinvar
247
nonsense
2
clinvar
2
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 0 0 225 36 9
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IQGAP3protein_codingprotein_codingENST00000361170 3847200
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.40e-330.77412504916981257480.00278
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6428699240.9410.000054310560
Missense in Polyphen287317.210.904773688
Synonymous1.713283700.8870.00002053261
Loss of Function2.816796.80.6920.00000563988

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002950.00295
Ashkenazi Jewish0.004440.00437
East Asian0.001580.00158
Finnish0.003240.00324
European (Non-Finnish)0.003470.00344
Middle Eastern0.001580.00158
South Asian0.002260.00226
Other0.003110.00310

dbNSFP

Source: dbNSFP

Pathway
Regulation of actin cytoskeleton - Homo sapiens (human);miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;Signal Transduction;RHO GTPases activate IQGAPs;RHO GTPase Effectors;Signaling by Rho GTPases;RAC1 signaling pathway;CDC42 signaling events (Consensus)

Recessive Scores

pRec
0.220

Intolerance Scores

loftool
0.641
rvis_EVS
-0.38
rvis_percentile_EVS
28.02

Haploinsufficiency Scores

pHI
0.230
hipred
N
hipred_score
0.492
ghis
0.579

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.888

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Iqgap3
Phenotype

Zebrafish Information Network

Gene name
iqgap3
Affected structure
trunk
Phenotype tag
abnormal
Phenotype quality
truncated

Gene ontology

Biological process
G1/S transition of mitotic cell cycle;activation of MAPK activity;Ras protein signal transduction;regulation of cell size;positive regulation of gene expression;negative regulation of gene expression;positive regulation of mammary gland epithelial cell proliferation;regulation of GTPase activity;ERK1 and ERK2 cascade;cellular response to organic substance
Cellular component
cytosol;cell-cell junction;lateral plasma membrane
Molecular function
calmodulin binding;Rho GTPase binding;myosin VI light chain binding