ZP2
gene geneOn this page
Also known as ZPA
Summary
ZP2 (zona pellucida glycoprotein 2, HGNC:13188) is a protein-coding gene on chromosome 16p12.3-p12.2, encoding Zona pellucida sperm-binding protein 2 (Q05996). Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy.
The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three glycoproteins with various functions during fertilization and preimplantation development. The glycosylated mature peptide is one of the structural components of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. Female mice lacking this gene do not form a stable zona matrix and are sterile. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 7783 — RefSeq curated summary.
At a glance
- Gene–disease (curated): oocyte maturation defect 6 (Definitive, GenCC) — +2 more curated relationships
- GWAS associations: 1
- Clinical variants (ClinVar): 165 total — 6 pathogenic, 3 likely-pathogenic
- Phenotypes (HPO): 3
- MANE Select transcript:
NM_001376232
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13188 |
| Approved symbol | ZP2 |
| Name | zona pellucida glycoprotein 2 |
| Location | 16p12.3-p12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZPA |
| Ensembl gene | ENSG00000103310 |
| Ensembl biotype | protein_coding |
| OMIM | 182888 |
| Entrez | 7783 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 retained_intron, 2 protein_coding
ENST00000572752, ENST00000573114, ENST00000574002, ENST00000574091, ENST00000576162
RefSeq mRNA: 4 — MANE Select: NM_001376232
NM_001376231, NM_001376232, NM_001376233, NM_003460
CCDS: CCDS10596
Canonical transcript exons
ENST00000574091 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000676586 | 21197766 | 21197849 |
| ENSE00000676587 | 21198779 | 21198862 |
| ENSE00000676588 | 21199570 | 21199666 |
| ENSE00000676589 | 21199743 | 21199878 |
| ENSE00000676590 | 21201369 | 21201558 |
| ENSE00000676591 | 21201706 | 21201830 |
| ENSE00000676592 | 21201932 | 21202023 |
| ENSE00000676595 | 21202104 | 21202291 |
| ENSE00000676597 | 21203125 | 21203251 |
| ENSE00000676598 | 21204030 | 21204211 |
| ENSE00001141177 | 21211486 | 21211574 |
| ENSE00003481633 | 21209631 | 21209725 |
| ENSE00003499023 | 21204308 | 21204404 |
| ENSE00003511657 | 21205420 | 21205584 |
| ENSE00003535369 | 21210109 | 21210192 |
| ENSE00003560443 | 21205731 | 21205775 |
| ENSE00003599946 | 21211307 | 21211395 |
| ENSE00003608181 | 21206838 | 21206990 |
| ENSE00003733159 | 21197450 | 21197622 |
Expression profiles
Bgee: expression breadth broad, 63 present calls, max score 91.43.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0981 / max 53.8047, expressed in 12 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156716 | 0.0829 | 11 |
| 156715 | 0.0152 | 4 |
Top tissues by expression
104 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar cortex | UBERON:0002129 | 91.43 | gold quality |
| cerebellum | UBERON:0002037 | 91.38 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.23 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.84 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.01 | gold quality |
| placenta | UBERON:0001987 | 59.52 | gold quality |
| colonic epithelium | UBERON:0000397 | 48.96 | gold quality |
| gall bladder | UBERON:0002110 | 46.70 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 45.81 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 44.57 | gold quality |
| small intestine | UBERON:0002108 | 44.49 | gold quality |
| granulocyte | CL:0000094 | 43.41 | silver quality |
| duodenum | UBERON:0002114 | 40.35 | gold quality |
| cortical plate | UBERON:0005343 | 40.28 | gold quality |
| tonsil | UBERON:0002372 | 39.75 | silver quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 39.64 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 39.45 | gold quality |
| bone marrow cell | CL:0002092 | 38.45 | gold quality |
| right lung | UBERON:0002167 | 37.77 | silver quality |
| transverse colon | UBERON:0001157 | 37.56 | gold quality |
| brain | UBERON:0000955 | 37.50 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 37.25 | gold quality |
| intestine | UBERON:0000160 | 36.88 | gold quality |
| rectum | UBERON:0001052 | 36.79 | silver quality |
| cortex of kidney | UBERON:0001225 | 36.74 | gold quality |
| fallopian tube | UBERON:0003889 | 36.63 | gold quality |
| ectocervix | UBERON:0012249 | 36.52 | silver quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| right uterine tube | UBERON:0001302 | 36.36 | silver quality |
| endometrium | UBERON:0001295 | 36.08 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.17 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FIGLA, TCF3
Literature-anchored findings (GeneRIF, showing 17)
- Of all zona pellucida (ZP) proteins, recombinant human ZPA demonstrates the highest binding activity toward acrosin (PMID:15950651)
- Exposure of sperm to ZP proteins promoted acrosomal exocytosis and changed motility patterns. (PMID:16407501)
- ZP proteins were detected in both the oocyte and the granulosa cells as early as the primordial follicle stage in the human. The detection of ZP proteins in the quiescent primordial follicle suggests that these proteins have been present since oogenesis. (PMID:18033806)
- observed sequence variations in exons of ZP2 gene in women with infertility of unknown origin who exhibit abnormal zona pellucida; sperm-ovum interactions appear relatively normal in these patients [CASE REPORTS] (PMID:22889493)
- Studies indicate that eggs from mice lacking an ortholog of ZP2 do not contain a zona pellucida (ZP), and the mice are completely infertile due to a severely reduced number of ovulated eggs in their oviducts. (PMID:23417405)
- ZP2(51-149) sperm-binding domain is necessary for human gamete recognition and penetration through the zona pellucida. (PMID:24934154)
- Mutations in ZP2 and ZP3 have dosage effects which can cause female infertility in humans. (PMID:28646452)
- We identified loss-of-function pathogenic variants of ZP2 causing a structurally abnormal and dysfunctional zona pellucida, resulting in fertilization failure and female infertility (PMID:29895852)
- Mutations in ZP1, ZP2, and ZP3 might affect the corresponding protein expression, secretion, and interaction, thus providing a mechanistic explanation for the phenotypes for female infertility. (PMID:30810869)
- Zona Pellucida Proteins, Fibrils, and Matrix. (PMID:32569527)
- Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida. (PMID:32829425)
- A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility. (PMID:33604805)
- Identification of a heterozygous variant of ZP2 as a novel cause of empty follicle syndrome in humans and mice. (PMID:35211729)
- Novel mutations in ZP2 and ZP3 cause female infertility in three patients. (PMID:35366744)
- Novel Heterozygous Mutations in ZP2 Cause Abnormal Zona Pellucida and Female Infertility. (PMID:35595959)
- Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida. (PMID:36931917)
- ZP2 cleavage blocks polyspermy by modulating the architecture of the egg coat. (PMID:38490181)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zpax4 | ENSDARG00000079034 |
| mus_musculus | Zp2 | ENSMUSG00000030911 |
| rattus_norvegicus | Zp2 | ENSRNOG00000057989 |
Paralogs (4): ZP4 (ENSG00000116996), QRICH2 (ENSG00000129646), ZP1 (ENSG00000149506), C16orf96 (ENSG00000205832)
Protein
Protein identifiers
Zona pellucida sperm-binding protein 2 — Q05996 (reviewed: Q05996)
Alternative names: Zona pellucida glycoprotein 2, Zona pellucida protein A
All UniProt accessions (1): Q05996
UniProt curated annotations — full annotation on UniProt →
Function. Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP2 may act as a secondary sperm receptor.
Subunit / interactions. Can form homopolymers that assemble into long fibers (in vitro). Polymers of ZP2 and ZP3 organized into long filaments cross-linked by ZP1 homodimers. Interacts with ZP3.
Subcellular location. Zona pellucida Cell membrane.
Tissue specificity. Expressed in occytes(at protein level).
Post-translational modifications. Proteolytically cleaved before the transmembrane segment to yield the secreted ectodomain incorporated in the zona pellucida. Proteolytically cleaved in the N-terminal part by the metalloendopeptidase ASTL exocytosed from cortical granules after fertilization, yielding a N-terminal peptide of about 30 kDa which remains covalently attached to the C-terminal peptide via disulfide bond(s). This cleavage may play an important role in the post-fertilization block to polyspermy. Additional proteolytically cleavage of the N-terminal peptide of 30 kDa occurs in one-cell and two-cell embryos. N-glycosylated. O-glycosylated; contains sulfate-substituted glycans.
Disease relevance. Oocyte/zygote/embryo maturation arrest 6 (OZEMA6) [MIM:618353] An autosomal recessive infertility disorder characterized by oocyte fertilization failure, due to defective sperm-binding to an abnormally thin zona pellucida in patient oocytes. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. The ZP domain is involved in the polymerization of the ZP proteins to form the zona pellucida.
Similarity. Belongs to the ZP domain family. ZPA subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q05996-1 | 1 | yes |
| Q05996-2 | 2 |
RefSeq proteins (4): NP_001363160, NP_001363161, NP_001363162, NP_003451 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001507 | ZP_dom | Domain |
| IPR017977 | ZP_dom_CS | Conserved_site |
| IPR042235 | ZP-C_dom | Homologous_superfamily |
| IPR048290 | ZP_chr | Domain |
| IPR051148 | Zona_Pellucida_Domain_gp | Family |
| IPR055355 | ZP-C | Domain |
| IPR055356 | ZP-N | Domain |
| IPR057636 | Ig_ZP2_3rd | Domain |
| IPR057637 | Ig_ZP2_1st | Domain |
| IPR057638 | Ig_ZP2_2nd | Domain |
Pfam: PF00100, PF23344, PF23736, PF23738, PF23740
UniProt features (46 total): strand 17, disulfide bond 7, glycosylation site 3, helix 3, chain 2, site 2, turn 2, topological domain 2, region of interest 2, signal peptide 1, splice variant 1, sequence variant 1, propeptide 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8RKE | X-RAY DIFFRACTION | 2.7 |
| 8RKF | X-RAY DIFFRACTION | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q05996-F1 | 72.52 | 0.23 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 172–173 (cleavage; by astl); 640–641 (cleavage)
Disulfide bonds (7): 55–138, 88–106, 372–465, 403–424, 545–615, 566–634, 620–630
Glycosylation sites (3): 105, 122, 462
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-2534343 | Interaction With Cumulus Cells And The Zona Pellucida |
| R-HSA-9820841 | M-decay: degradation of maternal mRNAs by maternally stored factors |
MSigDB gene sets: 115 (showing top):
GOBP_SINGLE_FERTILIZATION, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, MORF_BRCA1, MORF_RAD51L3, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, GOBP_SPERM_EGG_RECOGNITION, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, MODULE_157, GOBP_REGULATION_OF_ACROSOME_REACTION, GOBP_ACROSOME_REACTION, GOBP_FERTILIZATION, GOBP_CELL_CELL_RECOGNITION, MORF_BCL2L11, MORF_MT4, MORF_PPP2R5B
GO Biological Process (3): binding of sperm to zona pellucida (GO:0007339), prevention of polyspermy (GO:0060468), single fertilization (GO:0007338)
GO Molecular Function (5): coreceptor activity (GO:0015026), acrosin binding (GO:0032190), structural constituent of egg coat (GO:0035804), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (7): extracellular region (GO:0005576), multivesicular body (GO:0005771), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), extracellular matrix (GO:0031012), egg coat (GO:0035805), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Fertilization | 1 |
| Maternal to zygotic transition (MZT) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| sperm-egg recognition | 1 |
| egg activation | 1 |
| negative regulation of fertilization | 1 |
| fertilization | 1 |
| signaling receptor activity | 1 |
| enzyme binding | 1 |
| extracellular matrix structural constituent | 1 |
| egg coat | 1 |
| protein binding | 1 |
| binding | 1 |
| late endosome | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| external encapsulating structure | 1 |
| specialized extracellular matrix | 1 |
Protein interactions and networks
STRING
1390 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZP2 | ZP3 | P21754 | 990 |
| ZP2 | ZP4 | Q12836 | 987 |
| ZP2 | ZP1 | P60852 | 986 |
| ZP2 | LMBR1 | Q8WVP7 | 958 |
| ZP2 | SHH | Q15465 | 896 |
| ZP2 | ACR | P10323 | 796 |
| ZP2 | ASTL | Q6HA08 | 780 |
| ZP2 | GDF9 | O60383 | 752 |
| ZP2 | PLGLB1 | Q02325 | 742 |
| ZP2 | FGF8 | P55075 | 741 |
| ZP2 | GLI3 | P10071 | 732 |
| ZP2 | FIGLA | Q6QHK4 | 720 |
| ZP2 | FGF4 | P08620 | 692 |
| ZP2 | ALX4 | Q9H161 | 689 |
| ZP2 | GREM1 | O60565 | 645 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZP2 | ZP2 | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| ZP2 | VDAC2 | psi-mi:“MI:0915”(physical association) | 0.520 |
| ZP3 | ZP3 | psi-mi:“MI:0914”(association) | 0.500 |
| ZP2 | ACR | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SRC | ZP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZP2 | PLCG1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZP2 | PKM | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZP2 | ENO1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZP2 | GAPDHS | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZP2 | GPX4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZP1 | ZP3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZP2 | ZP3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZP3 | ZP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZP2 | RHOBTB3 | psi-mi:“MI:0914”(association) | 0.350 |
| EXT1 | ZP2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (8): UBR3 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), TSC2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), HPCAL1 (Affinity Capture-MS), RHOBTB3 (Affinity Capture-MS), ZP2 (Affinity Capture-MS), ZP2 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A0A6YXX9, A0A1Z2R986, A0A2R8Y4Y8, A0A2R8YFL7, A0A2R8YFM6, A0A8J1K1A4, A6MFL5, A6MFL6, A6MFL7, A6NHS7, A8MZH6, F8RKW5, G5E8D7, O54767, O77726, O88393, P17219, P20239, P26342, P34128, P35054, P42099, P47983, P47984, P70041, Q03167, Q05996, Q07G34, Q14CH0, Q1W7Q6, Q2Q0J1, Q3HXY1, Q3HXY2, Q3HXY3, Q3HXY4, Q3HXY5, Q3HXY6, Q3HXY8, Q3HXZ1, Q4FZG8
Diamond homologs: I6M4H4, O54766, O54767, O77726, P20239, P42099, P47983, P47984, P48829, P48834, P60852, Q00193, Q05996, Q07287, Q12836, Q62005, Q8CH34, Q9BH10, Q9BH11, Q5DID3, Q96PL2, P54097, O08524, P19218, Q5DID0, Q9D733
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
165 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 3 |
| Uncertain significance | 121 |
| Likely benign | 23 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (9)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3892945 | NM_001376232.1(ZP2):c.860_861del (p.Val287fs) | Pathogenic |
| 4277687 | NM_001376232.1(ZP2):c.1928-1G>A | Pathogenic |
| 4278466 | NM_001376232.1(ZP2):c.330+1G>A | Pathogenic |
| 619596 | NM_001376232.1(ZP2):c.1695-2A>G | Pathogenic |
| 619597 | NM_001376232.1(ZP2):c.1691_1694dup (p.Cys566fs) | Pathogenic |
| 689402 | NM_001376232.1(ZP2):c.1115G>C (p.Cys372Ser) | Pathogenic |
| 1803728 | NM_001376232.1(ZP2):c.151+1G>A | Likely pathogenic |
| 4796613 | NM_001376232.1(ZP2):c.1634G>A (p.Cys545Tyr) | Likely pathogenic |
| 4849460 | NM_001376232.1(ZP2):c.357_358del (p.Arg119fs) | Likely pathogenic |
SpliceAI
2704 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:21197621:ACC:A | acceptor_loss | 1.0000 |
| 16:21197624:T:C | acceptor_loss | 1.0000 |
| 16:21199737:ACTT:A | donor_loss | 1.0000 |
| 16:21199738:CTT:C | donor_loss | 1.0000 |
| 16:21199739:TTACC:T | donor_loss | 1.0000 |
| 16:21199740:TACC:T | donor_loss | 1.0000 |
| 16:21199741:A:C | donor_loss | 1.0000 |
| 16:21199742:C:CA | donor_loss | 1.0000 |
| 16:21199874:CACAG:C | acceptor_gain | 1.0000 |
| 16:21199877:AG:A | acceptor_gain | 1.0000 |
| 16:21199877:AGCTA:A | acceptor_loss | 1.0000 |
| 16:21199879:C:CC | acceptor_gain | 1.0000 |
| 16:21199879:CT:C | acceptor_loss | 1.0000 |
| 16:21199888:A:AC | acceptor_gain | 1.0000 |
| 16:21199894:C:CT | acceptor_gain | 1.0000 |
| 16:21201364:CCTA:C | donor_loss | 1.0000 |
| 16:21201365:CTA:C | donor_loss | 1.0000 |
| 16:21201367:A:AC | donor_gain | 1.0000 |
| 16:21201367:A:AG | donor_loss | 1.0000 |
| 16:21201367:AC:A | donor_gain | 1.0000 |
| 16:21201368:C:CC | donor_gain | 1.0000 |
| 16:21201368:CC:C | donor_gain | 1.0000 |
| 16:21201368:CCCAT:C | donor_gain | 1.0000 |
| 16:21201554:ATTAT:A | acceptor_gain | 1.0000 |
| 16:21201555:TTAT:T | acceptor_gain | 1.0000 |
| 16:21201556:TAT:T | acceptor_gain | 1.0000 |
| 16:21201557:AT:A | acceptor_gain | 1.0000 |
| 16:21201558:TC:T | acceptor_loss | 1.0000 |
| 16:21201559:C:CA | acceptor_loss | 1.0000 |
| 16:21201559:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
4856 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:21201425:C:A | W546C | 0.986 |
| 16:21201425:C:G | W546C | 0.986 |
| 16:21199779:A:C | F598L | 0.980 |
| 16:21199779:A:T | F598L | 0.980 |
| 16:21199781:A:G | F598L | 0.980 |
| 16:21201424:C:G | A547P | 0.980 |
| 16:21202276:C:G | C372S | 0.980 |
| 16:21202277:A:T | C372S | 0.980 |
| 16:21201429:C:G | C545S | 0.979 |
| 16:21201430:A:T | C545S | 0.979 |
| 16:21201386:C:A | W559C | 0.976 |
| 16:21201386:C:G | W559C | 0.976 |
| 16:21202141:A:G | F417S | 0.975 |
| 16:21201430:A:G | C545R | 0.973 |
| 16:21202120:C:G | C424S | 0.973 |
| 16:21202121:A:T | C424S | 0.973 |
| 16:21204317:A:G | C261R | 0.971 |
| 16:21201428:G:C | C545W | 0.970 |
| 16:21201429:C:T | C545Y | 0.969 |
| 16:21202002:A:C | Y437D | 0.969 |
| 16:21205563:A:G | W184R | 0.968 |
| 16:21205563:A:T | W184R | 0.968 |
| 16:21202140:G:C | F417L | 0.967 |
| 16:21202140:G:T | F417L | 0.967 |
| 16:21202142:A:G | F417L | 0.967 |
| 16:21199653:C:G | C615S | 0.966 |
| 16:21199654:A:T | C615S | 0.966 |
| 16:21202141:A:C | F417C | 0.966 |
| 16:21199652:G:C | C615W | 0.965 |
| 16:21199795:A:G | F593S | 0.964 |
dbSNP variants (sampled 300 via entrez): RS1000253199 (16:21202817 TACTTAA>T), RS1000321457 (16:21197766 C>T), RS1000549578 (16:21208394 G>A), RS1001368370 (16:21201207 A>AC), RS1001461454 (16:21207758 A>G), RS1001524201 (16:21202696 G>T), RS1001578445 (16:21197578 A>T), RS1001656763 (16:21202973 C>A,T), RS1002086273 (16:21196996 G>A), RS1002216933 (16:21211929 A>C,T), RS1002424478 (16:21207227 A>G), RS1002842386 (16:21215989 T>G), RS1002986829 (16:21216490 G>C), RS1003162948 (16:21206050 T>C,G), RS1003206443 (16:21205339 G>A)
Disease associations
OMIM: gene MIM:182888 | disease phenotypes: MIM:618353, MIM:612164
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| oocyte maturation defect 6 | Definitive | Autosomal recessive |
| inherited oocyte maturation defect | Moderate | Autosomal dominant |
| female infertility due to zona pellucida defect | Supportive | Autosomal dominant |
Mondo (4): oocyte maturation defect 6 (MONDO:0032696), developmental and epileptic encephalopathy, 4 (MONDO:0012812), inherited oocyte maturation defect (MONDO:0014769), female infertility due to zona pellucida defect (MONDO:0014342)
Orphanet (3): Early infantile developmental and epileptic encephalopathy (Orphanet:1934), Dravet syndrome (Orphanet:33069), STXBP1-related encephalopathy (Orphanet:599373)
HPO phenotypes
3 total (3 of 3 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008222 | Female infertility |
| HP:0020157 | Thin zona pellucida |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003226_4 | Pelvic organ prolapse | 4.000000e-07 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C567404 | Epileptic Encephalopathy, Early Infantile, 4 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| kojic acid | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arbutin | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | increases expression, affects cotreatment | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: inherited oocyte maturation defect, oocyte maturation defect 6, female infertility due to zona pellucida defect
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): developmental and epileptic encephalopathy, 4, female infertility due to zona pellucida defect, inherited oocyte maturation defect, oocyte maturation defect 6, pelvic organ prolapse