ZNF207

zinc finger protein 207, the group of Zinc fingers C2H2-type|MicroRNA protein coding host genes

Basic information

Region (hg38): 17:32350132-32381885

Links

ENSG00000010244 ∙ NCBI:7756 ∙ OMIM:603428 ∙ HGNC:12998 ∙ Uniprot:O43670 ∙ 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 ZNF207 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF207 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						0
missense			18			18
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in ZNF207

This is a list of pathogenic ClinVar variants found in the ZNF207 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-32358629-C-G		not specified	Uncertain significance (Oct 14, 2023)
17-32361513-C-G		not specified	Uncertain significance (Jan 19, 2022)
17-32362919-T-C		not specified	Uncertain significance (Mar 13, 2023)
17-32362924-A-G		not specified	Uncertain significance (Mar 02, 2023)
17-32362966-A-G		not specified	Uncertain significance (Jun 23, 2023)
17-32365401-A-G		not specified	Uncertain significance (May 08, 2023)
17-32366681-C-A		not specified	Uncertain significance (Jun 09, 2022)
17-32366708-C-G			Uncertain significance (May 01, 2022)
17-32366716-C-G		not specified	Uncertain significance (Nov 09, 2022)
17-32366733-A-T		not specified	Uncertain significance (Mar 30, 2024)
17-32367841-A-G		not specified	Uncertain significance (Jan 23, 2024)
17-32367884-C-T		not specified	Uncertain significance (May 03, 2023)
17-32369317-C-T		not specified	Uncertain significance (Apr 12, 2022)
17-32369332-A-G		not specified	Uncertain significance (Jan 17, 2024)
17-32369382-A-G		not specified	Uncertain significance (Mar 16, 2022)
17-32369393-G-A		not specified	Uncertain significance (Mar 20, 2023)
17-32369415-C-T		not specified	Uncertain significance (Sep 22, 2022)
17-32369442-A-G		not specified	Uncertain significance (Dec 06, 2021)
17-32369640-C-T		not specified	Uncertain significance (Jun 06, 2023)
17-32369656-C-T		not specified	Uncertain significance (Nov 14, 2023)
17-32369707-G-A		not specified	Uncertain significance (May 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF207	protein_coding	protein_coding	ENST00000394670	12	31770

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.105	0.895	125738	0	6	125744	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.51	163	282	0.579	0.0000135	3194
Missense in Polyphen		33	69.058	0.47786		777
Synonymous	-0.716	95	86.5	1.10	0.00000446	990
Loss of Function	3.53	7	26.7	0.262	0.00000139	302

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000450	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Kinetochore- and microtubule-binding protein that plays a key role in spindle assembly (PubMed:24462186, PubMed:24462187, PubMed:26388440). ZNF207/BuGZ is mainly composed of disordered low-complexity regions and undergoes phase transition or coacervation to form temperature-dependent liquid droplets. Coacervation promotes microtubule bundling and concentrates tubulin, promoting microtubule polymerization and assembly of spindle and spindle matrix by concentrating its building blocks (PubMed:26388440). Also acts as a regulator of mitotic chromosome alignment by mediating the stability and kinetochore loading of BUB3 (PubMed:24462186, PubMed:24462187). Mechanisms by which BUB3 is protected are unclear: according to a first report, ZNF207/BuGZ may act by blocking ubiquitination and proteasomal degradation of BUB3 (PubMed:24462186). According to another report, the stabilization is independent of the proteasome (PubMed:24462187). {ECO:0000269|PubMed:24462186, ECO:0000269|PubMed:24462187, ECO:0000269|PubMed:26388440}.

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.867
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.16

Haploinsufficiency Scores

• pHI: 0.556
• hipred: Y
• hipred_score: 0.704
• ghis: 0.635

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.986

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp207
• Phenotype: homeostasis/metabolism 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: mitotic sister chromatid segregation;microtubule bundle formation;regulation of transcription, DNA-templated;mitotic spindle assembly checkpoint;attachment of spindle microtubules to kinetochore;microtubule polymerization;protein stabilization;cell division;regulation of chromosome segregation;mitotic spindle assembly
• Cellular component: kinetochore;condensed chromosome kinetochore;nucleus;nucleoplasm;nucleolus;cytoplasm;spindle;microtubule;spindle matrix
• Molecular function: DNA binding;DNA-binding transcription factor activity;RNA binding;protein binding;microtubule binding;heparin binding;zinc ion binding