KBTBD2

kelch repeat and BTB domain containing 2, the group of BTB domain containing

Basic information

Region (hg38): 7:32868172-32894131

Previous symbols: [ "BKLHD1" ]

Links

ENSG00000170852NCBI:25948OMIM:619393HGNC:21751Uniprot:Q8IY47AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KBTBD2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KBTBD2 gene is commonly pathogenic or not.

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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
20
clinvar
20
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 20 0 0

Variants in KBTBD2

This is a list of pathogenic ClinVar variants found in the KBTBD2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
7-32869419-T-C not specified Uncertain significance (Oct 22, 2021)2369735
7-32869478-C-T not specified Uncertain significance (Feb 06, 2024)3112957
7-32869538-C-T not specified Uncertain significance (Jul 26, 2022)2402729
7-32869544-A-C not specified Uncertain significance (Apr 23, 2024)3287463
7-32869546-T-G not specified Uncertain significance (May 24, 2023)2551175
7-32869547-T-C not specified Uncertain significance (Aug 02, 2023)2615685
7-32869644-C-T not specified Uncertain significance (Nov 17, 2022)2403828
7-32869649-G-A not specified Uncertain significance (Jun 10, 2022)2391866
7-32869674-T-C not specified Uncertain significance (Jun 27, 2022)2297796
7-32869676-T-C not specified Uncertain significance (Jul 22, 2022)2302994
7-32869767-C-T not specified Uncertain significance (Feb 13, 2024)3112956
7-32869983-C-T not specified Uncertain significance (Dec 28, 2022)2340732
7-32870004-C-G not specified Uncertain significance (Feb 23, 2023)2488044
7-32870195-T-G not specified Uncertain significance (Apr 07, 2022)2393520
7-32870211-T-C not specified Uncertain significance (Aug 02, 2023)2615310
7-32870339-T-C not specified Uncertain significance (Jan 26, 2023)2479870
7-32870498-T-C not specified Uncertain significance (Jun 30, 2022)2299301
7-32870681-T-A not specified Uncertain significance (Feb 06, 2023)2481039
7-32870714-G-A not specified Uncertain significance (Jan 30, 2024)3112959
7-32870764-A-C not specified Uncertain significance (Aug 02, 2021)2216102
7-32875008-G-A not specified Uncertain significance (Jul 20, 2022)2302753

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KBTBD2protein_codingprotein_codingENST00000304056 325960
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9980.00205125695041256990.0000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.691943320.5850.00001724105
Missense in Polyphen3185.9470.360691088
Synonymous-0.1281221201.010.000006271188
Loss of Function4.45226.90.07430.00000172300

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.00009920.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001770.0000176
Middle Eastern0.000.00
South Asian0.00003340.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.113

Intolerance Scores

loftool
0.145
rvis_EVS
-0.67
rvis_percentile_EVS
15.62

Haploinsufficiency Scores

pHI
0.493
hipred
Y
hipred_score
0.728
ghis
0.664

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
H
gene_indispensability_pred
E
gene_indispensability_score
0.861

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kbtbd2
Phenotype
reproductive system phenotype; liver/biliary system phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype;