ZNG1B

Zn regulated GTPase metalloprotein activator 1B

Basic information

Region (hg38): 2:113437691-113496204

Previous symbols: [ "CBWD2" ]

Links

ENSG00000136682 ∙ NCBI:150472 ∙ OMIM:611079 ∙ HGNC:17907 ∙ Uniprot:Q8IUF1 ∙ 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 ZNG1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNG1B 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			21	2		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	3	0

Variants in ZNG1B

This is a list of pathogenic ClinVar variants found in the ZNG1B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-113437875-C-G		not specified	Uncertain significance (Jun 24, 2022)
2-113437891-C-T		not specified	Likely benign (Sep 24, 2024)
2-113437894-A-T		not specified	Uncertain significance (Sep 20, 2023)
2-113437896-G-A		not specified	Uncertain significance (Aug 08, 2022)
2-113437978-G-A		not specified	Uncertain significance (Nov 12, 2024)
2-113437980-C-T		not specified	Uncertain significance (Mar 02, 2023)
2-113441378-A-C		not specified	Uncertain significance (Feb 26, 2025)
2-113443771-T-G		not specified	Uncertain significance (Nov 21, 2022)
2-113443772-G-A		not specified	Uncertain significance (Dec 23, 2024)
2-113443841-G-A		not specified	Uncertain significance (May 09, 2023)
2-113443843-T-G			Likely benign (Nov 01, 2022)
2-113443844-T-G		not specified	Uncertain significance (Sep 02, 2024)
2-113445035-C-T		not specified	Uncertain significance (Jun 30, 2023)
2-113445045-G-C		not specified	Uncertain significance (Dec 16, 2024)
2-113445052-C-T		not specified	Uncertain significance (May 13, 2024)
2-113453168-G-A		not specified	Uncertain significance (May 27, 2022)
2-113454744-T-C		not specified	Uncertain significance (Jan 04, 2022)
2-113454753-T-C		not specified	Uncertain significance (Jan 31, 2025)
2-113454775-A-T		not specified	Uncertain significance (Oct 14, 2021)
2-113460707-A-G		not specified	Uncertain significance (Dec 13, 2023)
2-113462472-A-G		not specified	Uncertain significance (Jul 19, 2023)
2-113471041-T-C		not specified	Uncertain significance (Aug 02, 2023)
2-113482186-A-T		not specified	Uncertain significance (Feb 01, 2025)
2-113482208-A-G		not specified	Uncertain significance (Sep 16, 2021)
2-113482226-C-G		not specified	Uncertain significance (Sep 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNG1B	protein_coding	protein_coding	ENST00000259199	15	58499

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00613	0.975	125573	0	18	125591	0.0000717

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.152	133	128	1.04	0.00000566	2568
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000542	0.000489
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000184	0.0000176
Middle Eastern	0.000163	0.000163
South Asian	0.0000993	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0941

Haploinsufficiency Scores

• pHI: 0.150
• hipred: N
• hipred_score: 0.380
• ghis: 0.469

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.143

Gene Damage Prediction

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

Gene ontology

• Molecular function: ATP binding