ZNF334

protein-coding

zinc finger protein 334, the group of Zinc fingers C2H2-type

Gene summary

This gene encodes a member of the C2H2 zinc finger family. The encoded protein contains a Krueppel-associated box, fourteen C2H2 zinc finger domains, and four C2H2-type/integrase DNA-binding domains. Decreased expression of this gene may be a marker for rheumatoid arthritis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

MANE transcript

NM_001353824.2

Inheritance

—

ClinVar variants

U:100B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr20:46,499,630-46,513,559

External References & Databases

Ensembl (ENSG00000198185)

Transcript & Mutation Effects

hg38 • Region Span ~13.9 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 ZNF334 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 100

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001353824.2. 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						0
missense			100 clinvar	1 clinvar		101
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	100	1	0	101

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 53 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001353824.2	RefSeq	NP_001340753.1	4	MANE Select
ENST00000692313.1	Ensembl	ENSP00000510334.1	4	MANE Select
NM_001270497.3	RefSeq	NP_001257426.1	4	Standard
NM_001353813.2	RefSeq	NP_001340742.1	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

Molecular Function

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

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000347606
Coding exons: 4
Length: 12498
Individuals with no LoFs: 125448
Homozygous LoFs: 1
Heterozygous LoFs: 297
Defined: 125746
p: 0.00119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.528	371	343	1.08	0.0000168	4558
Missense (PolyPhen)		100	96.236	1.0391		1292
Synonymous	-0.171	122	120	1.02	0.00000598	1157
Loss of Function	1.27	17	23.7	0.718	0.00000133	356

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0030	0.0030	notable
Latino/Admixed American	0.0011	0.0011	notable
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.0015	0.0015	notable
Finnish	0.00065	0.00065	rare
European (Non-Finnish)	0.0012	0.0012	notable
South Asian	0.00088	0.00088	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.0940

Intolerance Scores

LoFtool: 0.914
RVIS EVS: 0.89
RVIS percentile EVS: 89.27

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.914

Gene Damage Prediction

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