GGNBP2

gametogenetin binding protein 2

Basic information

Region (hg38): 17:36544912-36589848

Previous symbols: [ "ZNF403" ]

Links

ENSG00000278311 ∙ NCBI:79893 ∙ OMIM:612275 ∙ HGNC:19357 ∙ Uniprot:Q9H3C7 ∙ 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 GGNBP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GGNBP2 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			29	1		30
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	30	2	0

Variants in GGNBP2

This is a list of pathogenic ClinVar variants found in the GGNBP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-36545769-C-A		not specified	Uncertain significance (Jan 04, 2022)
17-36545783-G-A		not specified	Uncertain significance (Nov 08, 2024)
17-36545798-A-G		not specified	Uncertain significance (Mar 20, 2023)
17-36554844-G-A		not specified	Uncertain significance (Nov 09, 2023)
17-36554852-T-A		not specified	Uncertain significance (Feb 10, 2025)
17-36554862-C-T		not specified	Uncertain significance (Feb 25, 2025)
17-36557107-G-A		not specified	Uncertain significance (Jan 20, 2025)
17-36557251-A-G		not specified	Uncertain significance (Jan 22, 2025)
17-36557282-C-T		not specified	Uncertain significance (Jun 29, 2023)
17-36557285-G-A		not specified	Uncertain significance (Dec 28, 2022)
17-36557329-G-A		not specified	Uncertain significance (Jan 24, 2024)
17-36560773-G-A		not specified	Likely benign (Dec 26, 2023)
17-36567659-A-G		GGNBP2-related disorder	Benign (Nov 12, 2019)
17-36567665-G-A		not specified	Uncertain significance (Nov 03, 2022)
17-36567731-C-T		not specified	Uncertain significance (Feb 28, 2024)
17-36578033-T-C		not specified	Uncertain significance (Nov 21, 2024)
17-36578051-G-A		not specified	Uncertain significance (Dec 11, 2024)
17-36578110-C-T		Developmental disorder	Uncertain significance (Aug 11, 2021)
17-36578167-G-A		not specified	Uncertain significance (Oct 30, 2023)
17-36578176-T-C		not specified	Uncertain significance (Oct 17, 2023)
17-36579322-A-G		not specified	Uncertain significance (Apr 08, 2023)
17-36581478-T-G		not specified	Uncertain significance (Sep 29, 2022)
17-36581492-C-G		not specified	Uncertain significance (Jul 14, 2024)
17-36581494-A-G		not specified	Likely benign (Aug 10, 2021)
17-36581503-C-A		not specified	Uncertain significance (Jan 16, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in spermatogenesis.

Intolerance Scores

• loftool: 0.157
• rvis_EVS: -0.93
• rvis_percentile_EVS: 9.47

Haploinsufficiency Scores

• pHI: 0.393
• hipred: Y
• hipred_score: 0.673

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: N
• gene_indispensability_score: 0.166

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ggnbp2
• Phenotype: embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); limbs/digits/tail phenotype; vision/eye phenotype; immune system phenotype; homeostasis/metabolism phenotype; skeleton phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: spermatogenesis;negative regulation of cell population proliferation;negative regulation of gene expression;cell differentiation;negative regulation of peptidyl-serine phosphorylation of STAT protein;negative regulation of tyrosine phosphorylation of STAT protein;labyrinthine layer blood vessel development;negative regulation of protein tyrosine kinase activity
• Cellular component: nucleus;cytoplasm;cytoplasmic vesicle