ZBTB7C

protein-coding

zinc finger and BTB domain containing 7C, the group of Zinc fingers C2H2-type|BTB domain containing

Gene summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of cell population proliferation. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

ZBTB36

MANE transcript

NM_001318841.2

Inheritance

—

ClinVar variants

U:87B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.27

Max pathogenic AF

—

Genomic locus

chr18:48,026,672-48,410,752

External References & Databases

Ensembl (ENSG00000184828)

Transcript & Mutation Effects

hg38 • Region Span ~384.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZBTB7C variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 88

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001318841.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			86 clinvar	2 clinvar	1 clinvar	89
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	87	3	2	92

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 70 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001318841.2	RefSeq	NP_001305770.1	2	MANE Select
ENST00000590800.6	Ensembl	ENSP00000467877.1	2	MANE Select
NM_001039360.3	RefSeq	NP_001034449.1	2	Standard
NM_001371284.1	RefSeq	NP_001358213.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of cell population proliferation
positive regulation of fat cell differentiation
positive regulation of transcription by RNA polymerase II
regulation of RNA polymerase II regulatory region sequence-specific DNA binding

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
molecular_function
nucleic acid binding
metal ion binding

Cellular Component

cellular_component
nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000588982
Coding exons: 2
Length: 384080
Individuals with no LoFs: 125731
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125744
p: 0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.32	313	386	0.811	0.0000249	4045
Missense (PolyPhen)		82	135.03	0.60726		1432
Synonymous	0.412	173	180	0.961	0.0000137	1226
Loss of Function	2.60	4	14.8	0.271	7.10e-7	178

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.000061	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000093	0.000079	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be a tumor suppressor gene. {ECO:0000269|PubMed:9427755}.;

Recessive Scores

pRec: 0.117

Intolerance Scores

LoFtool: 0.378
RVIS EVS: -0.18
RVIS percentile EVS: 40.56

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.218

Gene Damage Prediction

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