ZBTB2

zinc finger and BTB domain containing 2, the group of BTB domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 6:151364114-151391559

Links

ENSG00000181472 ∙ NCBI:57621 ∙ OMIM:616595 ∙ HGNC:20868 ∙ Uniprot:Q8N680 ∙ 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 ZBTB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB2 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					1	1
missense			16	2		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	1

Variants in ZBTB2

This is a list of pathogenic ClinVar variants found in the ZBTB2 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-151365573-T-C		not specified	Uncertain significance (Jun 22, 2023)
6-151365594-G-A		not specified	Uncertain significance (Jun 10, 2022)
6-151365648-G-A		not specified	Uncertain significance (Apr 04, 2023)
6-151365730-T-G		not specified	Uncertain significance (Jul 15, 2021)
6-151365770-C-T			Benign (Jan 15, 2020)
6-151365799-T-G		not specified	Uncertain significance (Aug 12, 2021)
6-151366013-C-A		not specified	Uncertain significance (Jun 22, 2021)
6-151366155-T-C		not specified	Uncertain significance (May 02, 2024)
6-151366170-G-A		not specified	Uncertain significance (Apr 24, 2024)
6-151366197-C-A		not specified	Uncertain significance (Apr 19, 2023)
6-151366197-C-T		not specified	Uncertain significance (Jan 26, 2022)
6-151366201-T-C		not specified	Likely benign (Jul 21, 2021)
6-151366227-G-C		not specified	Uncertain significance (Oct 17, 2023)
6-151366230-A-G		not specified	Uncertain significance (Apr 13, 2022)
6-151366281-C-T		not specified	Uncertain significance (Dec 08, 2023)
6-151366417-C-A		not specified	Uncertain significance (Jan 30, 2024)
6-151366528-G-C		not specified	Uncertain significance (Jul 11, 2023)
6-151366546-C-T		not specified	Likely benign (Dec 15, 2022)
6-151366548-T-C		not specified	Uncertain significance (May 24, 2024)
6-151366575-G-A		not specified	Uncertain significance (May 16, 2024)
6-151366714-C-T		not specified	Uncertain significance (Mar 07, 2023)
6-151366738-C-T		not specified	Uncertain significance (Apr 12, 2022)
6-151366869-G-T		not specified	Uncertain significance (Aug 12, 2021)
6-151366881-C-T		not specified	Uncertain significance (May 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB2	protein_coding	protein_coding	ENST00000325144	2	27432

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00180	125738	0	2	125740	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.64	171	299	0.571	0.0000180	3396
Missense in Polyphen		53	155.5	0.34084		1816
Synonymous	-0.452	131	125	1.05	0.00000817	1014
Loss of Function	3.98	0	18.4	0.00	0.00000111	194

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Ectoderm Differentiation (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• rvis_EVS: -1
• rvis_percentile_EVS: 8.32

Haploinsufficiency Scores

• pHI: 0.342
• hipred: Y
• hipred_score: 0.728
• ghis: 0.625

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.585

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Zbtb2

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;protein binding;metal ion binding