ZNF443

protein-coding

zinc finger protein 443, the group of Zinc fingers C2H2-type

Gene summary

Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]

MANE transcript

NM_005815.5

Inheritance

—

ClinVar variants

U:126B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.94

Max pathogenic AF

—

Genomic locus

chr19:12,429,706-12,441,021

External References & Databases

Ensembl (ENSG00000180855)

Transcript & Mutation Effects

hg38 • Region Span ~11.3 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 ZNF443 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 133

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005815.5. 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				2 clinvar		2
missense			126 clinvar	7 clinvar		133
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	126	9	0	135

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005815.5	RefSeq	NP_005806.3	4	MANE Select
ENST00000301547.10	Ensembl	ENSP00000301547.5	4	MANE Select
ENST00000436821.1	Ensembl	ENSP00000389105.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription

Biological Process

regulation of transcription by RNA polymerase II
apoptotic process

Molecular Function

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

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000301547
Coding exons: 4
Length: 11406
Individuals with no LoFs: 125083
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 125093
p: 0.0000400

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.34	415	345	1.20	0.0000174	4456
Missense (PolyPhen)		156	128.59	1.2131		1762
Synonymous	-1.99	144	117	1.23	0.00000582	1159
Loss of Function	0.125	5	5.31	0.942	3.05e-7	57

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000073	0.000063	rare
Latino/Admixed American	0.000030	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0	0.0	absent
South Asian	0.000034	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in transcriptional regulation.;

Recessive Scores

pRec: 0.0907

Intolerance Scores

LoFtool: 0.927
RVIS EVS: 1.69
RVIS percentile EVS: 96.43

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.546

Gene Damage Prediction

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