ZBTB33

zinc finger and BTB domain containing 33, the group of BTB domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): X:120250752-120258398

Links

ENSG00000177485 ∙ NCBI:10009 ∙ OMIM:300329 ∙ HGNC:16682 ∙ Uniprot:Q86T24 ∙ 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 ZBTB33 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB33 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				2		2
missense			31	1	2	34
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	1	2
Total	0	0	31	4	4

Variants in ZBTB33

This is a list of pathogenic ClinVar variants found in the ZBTB33 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-120251791-G-A			Likely benign (May 01, 2023)
X-120253449-A-C		not specified	Uncertain significance (Dec 03, 2024)
X-120253452-C-G		not specified	Uncertain significance (Dec 05, 2016)
X-120253468-T-G		not specified	Uncertain significance (Jul 02, 2024)
X-120253520-C-T			Likely benign (Oct 01, 2022)
X-120253578-A-G		not specified	Uncertain significance (Oct 17, 2023)
X-120253804-C-T		not specified	Uncertain significance (Dec 11, 2023)
X-120253873-A-G		not specified	Uncertain significance (Dec 28, 2023)
X-120253960-A-G		not specified	Uncertain significance (Nov 26, 2024)
X-120253979-T-TTGA			Benign (Jun 17, 2021)
X-120254007-T-G		not specified	Uncertain significance (Jun 16, 2023)
X-120254038-T-C		not specified	Uncertain significance (Jun 30, 2023)
X-120254041-C-T		not specified	Uncertain significance (Dec 03, 2024)
X-120254068-A-T			Uncertain significance (Jul 01, 2017)
X-120254091-A-G			Benign (Aug 08, 2017)
X-120254181-G-T		not specified	Uncertain significance (Oct 29, 2024)
X-120254202-G-A		not specified	Uncertain significance (Oct 30, 2023)
X-120254251-A-G		not specified	Uncertain significance (Mar 25, 2024)
X-120254271-A-G		not specified	Likely benign (Jan 06, 2023)
X-120254418-A-C		not specified	Uncertain significance (Sep 22, 2022)
X-120254439-A-G		not specified	Uncertain significance (Dec 01, 2024)
X-120254463-G-A		not specified	Uncertain significance (Jun 07, 2023)
X-120254568-C-A		not specified	Uncertain significance (Sep 03, 2024)
X-120254604-A-G		not specified	Uncertain significance (Jun 17, 2024)
X-120254615-T-G		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB33	protein_coding	protein_coding	ENST00000326624	1	7647

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.913	0.0872	125696	0	5	125701	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.94	164	250	0.655	0.0000184	4426
Missense in Polyphen		32	101.15	0.31635		1807
Synonymous	1.76	73	94.9	0.770	0.00000721	1316
Loss of Function	2.98	1	12.2	0.0817	8.43e-7	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000365	0.0000365
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000489	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional regulator with bimodal DNA-binding specificity. Binds to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' and also binds to the non-methylated consensus sequence 5'-CTGCNA-3' also known as the consensus kaiso binding site (KBS). Recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. May contribute to the repression of target genes of the Wnt signaling pathway. May also activate transcription of a subset of target genes by the recruitment of CTNND2. Represses expression of MMP7 in conjunction with transcriptional corepressors CBFA2T3, CBFA2T2 and RUNX1T1 (PubMed:23251453). {ECO:0000269|PubMed:11445535, ECO:0000269|PubMed:14527417, ECO:0000269|PubMed:15548582, ECO:0000269|PubMed:15817151, ECO:0000269|PubMed:16354688, ECO:0000269|PubMed:23251453}.
• Pathway: Wnt Signaling Pathway and Pluripotency;Posttranslational regulation of adherens junction stability and dissassembly (Consensus)

Recessive Scores

• pRec: 0.130

Intolerance Scores

• loftool: 0.283
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.21

Haploinsufficiency Scores

• pHI: 0.645
• hipred: Y
• hipred_score: 0.825
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb33
• Phenotype: neoplasm; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;Wnt signaling pathway;intracellular signal transduction;negative regulation of transcription, DNA-templated
• Cellular component: nucleus;nucleoplasm;nucleolus;cytosol;plasma membrane
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;protein binding;methyl-CpG binding;sequence-specific DNA binding;metal ion binding