ZNG1B

protein-coding

Zn regulated GTPase metalloprotein activator 1B

Gene summary

Predicted to enable zinc chaperone activity and zinc ion binding activity. Predicted to be involved in protein maturation. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

CBWD2

MANE transcript

NM_172003.3

Inheritance

—

ClinVar variants

U:56B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.42

Max pathogenic AF

—

Genomic locus

chr2:113,437,691-113,496,204

External References & Databases

Ensembl (ENSG00000136682)

Transcript & Mutation Effects

hg38 • Region Span ~58.5 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 ZNG1B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 51

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_172003.3. 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
missense			52 clinvar	2 clinvar		54
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	56	3	0	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 101 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_172003.3	RefSeq	NP_742000.1	15	MANE Select
ENST00000259199.9	Ensembl	ENSP00000259199.4	15	MANE Select
NM_001330336.1	RefSeq	NP_001317265.1	14	Standard
NM_001330337.1	RefSeq	NP_001317266.1	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

ATP binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000259199
Coding exons: 15
Length: 58499
Individuals with no LoFs: 125573
Homozygous LoFs: 0
Heterozygous LoFs: 18
Defined: 125591
p: 0.0000717

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.152	133	128	1.04	0.00000566	2568
Missense (PolyPhen)		39	35.78	1.09		779
Synonymous	0.787	41	47.9	0.855	0.00000223	696
Loss of Function	2.06	6	14.5	0.415	6.10e-7	322

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00042	0.00037	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0.000099	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0941

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.143

Gene Damage Prediction

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