KIRREL2

kirre like nephrin family adhesion molecule 2, the group of I-set domain containing|C2-set domain containing

Basic information

Region (hg38): 19:35855861-35867136

Links

ENSG00000126259NCBI:84063OMIM:607762HGNC:18816Uniprot:Q6UWL6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIRREL2 gene.

  • not_specified (97 variants)
  • not_provided (2 variants)
  • Epilepsy (1 variants)
  • Neurodevelopmental_delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIRREL2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000199180.4. 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
4
clinvar
4
missense
92
clinvar
2
clinvar
1
clinvar
95
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 0 0 93 6 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KIRREL2protein_codingprotein_codingENST00000360202 1511249
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.81e-100.95812530724391257480.00176
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6053924270.9180.00002384405
Missense in Polyphen92104.280.882231102
Synonymous0.2281831870.9790.00001071596
Loss of Function2.102033.00.6060.00000175339

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.003780.00376
Ashkenazi Jewish0.0001990.000198
East Asian0.0003270.000326
Finnish0.0001500.000139
European (Non-Finnish)0.002630.00257
Middle Eastern0.0003270.000326
South Asian0.0008510.000850
Other0.001150.00114

dbNSFP

Source: dbNSFP

Function
FUNCTION: May regulate basal insulin secretion. {ECO:0000250|UniProtKB:Q7TSU7}.;
Pathway
Primary Focal Segmental Glomerulosclerosis FSGS;Nephrin family interactions;Cell-Cell communication (Consensus)

Recessive Scores

pRec
0.111

Intolerance Scores

loftool
0.895
rvis_EVS
0.67
rvis_percentile_EVS
84.7

Haploinsufficiency Scores

pHI
0.146
hipred
N
hipred_score
0.493
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.120

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kirrel2
Phenotype
normal phenotype;

Gene ontology

Biological process
negative regulation of protein phosphorylation;cell adhesion;cell-cell adhesion
Cellular component
plasma membrane;cell-cell junction;integral component of membrane;slit diaphragm
Molecular function
protein binding;identical protein binding