ZFAND4

protein-coding

zinc finger AN1-type containing 4, the group of Zinc fingers AN1-type

Gene summary

Predicted to enable zinc ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

ANUBL1

MANE transcript

NM_174890.4

Inheritance

—

ClinVar variants

U:122B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr10:45,615,500-45,672,780

External References & Databases

Ensembl (ENSG00000172671)

Transcript & Mutation Effects

hg38 • Region Span ~57.3 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 ZFAND4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 119

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_174890.4. 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			117 clinvar	4 clinvar		121
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	122	4	0	126

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 107 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_174890.4	RefSeq	NP_777550.2	9	MANE Select
ENST00000344646.10	Ensembl	ENSP00000339484.5	9	MANE Select
NM_001128324.2	RefSeq	NP_001121796.1	9	Standard
NM_001282905.1	RefSeq	NP_001269834.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

zinc ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000344646
Coding exons: 9
Length: 57186
Individuals with no LoFs: 125367
Homozygous LoFs: 1
Heterozygous LoFs: 380
Defined: 125748
p: 0.00152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.679	413	376	1.10	0.0000190	4749
Missense (PolyPhen)		137	122.38	1.1195		1584
Synonymous	1.12	122	139	0.879	0.00000723	1429
Loss of Function	1.32	21	28.6	0.733	0.00000155	380

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00068	0.00068	rare
Latino/Admixed American	0.00084	0.00084	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.00017	0.00016	rare
Finnish	0.00056	0.00055	rare
European (Non-Finnish)	0.0026	0.0026	notable
South Asian	0.00049	0.00039	rare
Other	0.0028	0.0028	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0897

Intolerance Scores

RVIS EVS: 0.87
RVIS percentile EVS: 88.87

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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