ZAN
protein-codingzonadhesin
Gene summary
This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or gamete recognition. An allelic polymorphism in this gene results in both functional and frameshifted alleles; the reference genome represents the functional allele. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~64.2 kbGenCC 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 ZAN variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_003386.3. 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 | 6 | 1 | 7 | |||
| missense | 346 | 45 | 3 | 394 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 348 | 51 | 5 | 404 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_003377.2 | 47 | MANE Select | |
| Ensembl | ENSP00000480750.1 | 47 | MANE Select | |
| RefSeq | NP_775082.2 | 45 | Standard | |
| Ensembl | ENSP00000445091.2 | 42 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- binding of sperm to zona pellucida
- cell-cell adhesion
Cellular Component
- plasma membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- polymorphic_pseudogene
- Transcript type
- protein_coding
- Transcript
- ENST00000546292
- Coding exons
- 46
- Length
- 64171
- Individuals with no LoFs
- 90334
- Homozygous LoFs
- 5468
- Heterozygous LoFs
- 28956
- Defined
- 124758
- p
- 0.149
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.289 | 1519 | 1.55e+3 | 0.979 | 0.0000909 | 17532 |
| Missense (PolyPhen) | 176 | 187.53 | 0.93852 | 2256 | ||
| Synonymous | -1.07 | 667 | 633 | 1.05 | 0.0000409 | 5379 |
| Loss of Function | 1.08 | 102 | 114 | 0.891 | 0.00000518 | 1392 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.034 | 0.032 | notable |
| Latino/Admixed American | 0.40 | 0.38 | notable |
| Ashkenazi Jewish | 0.11 | 0.11 | notable |
| East Asian | 0.62 | 0.59 | notable |
| Finnish | 0.093 | 0.090 | notable |
| European (Non-Finnish) | 0.050 | 0.047 | notable |
| South Asian | 0.28 | 0.26 | notable |
| Other | 0.13 | 0.12 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Binds in a species-specific manner to the zona pellucida of the egg. May be involved in gamete recognition and/or signaling.;
Recessive Scores
- pRec
- 0.103
Essentials
- Essential (CRISPR2)
- N