GeneBe

ADAP2

ArfGAP with dual PH domains 2, the group of Pleckstrin homology domain containing|ArfGAPs

Basic information

Region (hg38): 17:30906344-30959945

Previous symbols: [ "CENTA2" ]

Links

ENSG00000184060 ∙ NCBI:55803 ∙ OMIM:608635 ∙ HGNC:16487 ∙ Uniprot:Q9NPF8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADAP2 gene.

  • not_specified (48 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018404.3. 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
0
missense
46
clinvar
2
clinvar
 48
nonsense
0
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total 0 0 48 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ADAP2protein_codingprotein_codingENST00000330889 1152979
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
4.24e-100.56312556721791257480.000720
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8031722040.8420.00001162496
Missense in Polyphen6688.7820.743391131
Synonymous0.8326675.20.8780.00000397715
Loss of Function1.261824.80.7270.00000137263

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0006630.000662
Ashkenazi Jewish0.000.00
East Asian0.0001630.000163
Finnish0.0009730.000924
European (Non-Finnish)0.001220.00120
Middle Eastern0.0001630.000163
South Asian0.0001960.000196
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: GTPase-activating protein for the ADP ribosylation factor family (Potential). Binds phosphatidylinositol 3,4,5- trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Possesses a stoichiometry of two binding sites for InsP4 with identical affinity. {ECO:0000269|PubMed:14690521, ECO:0000305}.;
Pathway
TYROBP Causal Network (Consensus)

Recessive Scores

pRec
0.116

Intolerance Scores

loftool
0.739
rvis_EVS
-0.45
rvis_percentile_EVS
24

Haploinsufficiency Scores

pHI
0.0830
hipred
N
hipred_score
0.296
ghis
0.584

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.512

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Adap2
Phenotype

Zebrafish Information Network

Gene name
adap2
Affected structure
atrioventricular valve
Phenotype tag
abnormal
Phenotype quality
morphology

Gene ontology

Biological process
heart development;positive regulation of GTPase activity
Cellular component
cytoplasm;mitochondrial envelope;plasma membrane
Molecular function
GTPase activator activity;protein binding;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-3,4,5-trisphosphate binding;protein binding, bridging;phosphatidylinositol-3,4-bisphosphate binding;inositol 1,3,4,5 tetrakisphosphate binding;metal ion binding