PABPC1L
gene geneOn this page
Also known as dJ1069P2.3PABPC1L1ePAB
Summary
PABPC1L (poly(A) binding protein cytoplasmic 1 like, HGNC:15797) is a protein-coding gene on chromosome 20q13.12, encoding Polyadenylate-binding protein 1-like (Q4VXU2). Poly(A)-binding protein involved in oocyte maturation and early embryo development.
This gene belongs to the polyadenylate-binding protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to regulate mRNA stability and translation. The mouse ortholog of this gene is required for female fertility. In human, expression of a functional protein is regulated by alternative splicing. The protein-coding splice variant for this gene is abundantly expressed in human oocytes, while a noncoding splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues.
Source: NCBI Gene 80336 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 121 total — 10 pathogenic
- Phenotypes (HPO): 7
- MANE Select transcript:
NM_001372179
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15797 |
| Approved symbol | PABPC1L |
| Name | poly(A) binding protein cytoplasmic 1 like |
| Location | 20q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ1069P2.3, PABPC1L1, ePAB |
| Ensembl gene | ENSG00000101104 |
| Ensembl biotype | protein_coding |
| OMIM | 621055 |
| Entrez | 80336 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 7 protein_coding, 6 nonsense_mediated_decay, 4 retained_intron, 4 protein_coding_CDS_not_defined
ENST00000217073, ENST00000217074, ENST00000217075, ENST00000255136, ENST00000372819, ENST00000372822, ENST00000372824, ENST00000372826, ENST00000465761, ENST00000474208, ENST00000476056, ENST00000479873, ENST00000482486, ENST00000489068, ENST00000490798, ENST00000537323, ENST00000674244, ENST00000674318, ENST00000674382, ENST00000925475, ENST00000925476
RefSeq mRNA: 1 — MANE Select: NM_001372179
NM_001372179
CCDS: CCDS42878
Canonical transcript exons
ENST00000217073 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001595311 | 44932342 | 44932432 |
| ENSE00001621477 | 44918906 | 44919045 |
| ENSE00001693471 | 44912660 | 44912853 |
| ENSE00001699543 | 44939126 | 44939316 |
| ENSE00001710510 | 44919183 | 44919277 |
| ENSE00001742943 | 44916756 | 44916871 |
| ENSE00001791300 | 44921594 | 44921731 |
| ENSE00002726568 | 44910060 | 44910336 |
| ENSE00003504366 | 44938061 | 44938191 |
| ENSE00003515430 | 44924161 | 44924256 |
| ENSE00003530364 | 44936637 | 44936730 |
| ENSE00003553535 | 44938674 | 44938748 |
| ENSE00003625899 | 44935391 | 44935497 |
| ENSE00003647159 | 44930460 | 44930726 |
| ENSE00003898634 | 44933057 | 44933185 |
Expression profiles
Bgee: expression breadth ubiquitous, 210 present calls, max score 96.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1069 / max 232.4783, expressed in 1481 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 184762 | 8.1067 | 1461 |
| 184763 | 0.5007 | 273 |
| 184764 | 0.4995 | 261 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 96.37 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.26 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.26 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.98 | gold quality |
| right uterine tube | UBERON:0001302 | 95.95 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.53 | gold quality |
| thyroid gland | UBERON:0002046 | 95.25 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.89 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.38 | gold quality |
| left ovary | UBERON:0002119 | 93.13 | gold quality |
| right ovary | UBERON:0002118 | 92.91 | gold quality |
| pituitary gland | UBERON:0000007 | 92.89 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.78 | silver quality |
| granulocyte | CL:0000094 | 91.99 | gold quality |
| metanephros | UBERON:0000081 | 91.35 | gold quality |
| body of stomach | UBERON:0001161 | 90.94 | gold quality |
| spleen | UBERON:0002106 | 90.84 | gold quality |
| oocyte | CL:0000023 | 90.78 | gold quality |
| cortex of kidney | UBERON:0001225 | 90.47 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.45 | gold quality |
| upper arm skin | UBERON:0004263 | 90.32 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.13 | gold quality |
| minor salivary gland | UBERON:0001830 | 90.13 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.66 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.53 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.47 | gold quality |
| right lung | UBERON:0002167 | 89.42 | gold quality |
| ascending aorta | UBERON:0001496 | 89.32 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.29 | gold quality |
| thoracic aorta | UBERON:0001515 | 89.26 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.22 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 5)
- Human EPAB mRNA is detected in ovaries, testes and several somatic tissues including pancreas, liver and thymus, and EPAB is the predominant poly(A) binding protein in immature (germinal vesicle) and mature (metaphase II) oocytes. (PMID:18716053)
- EPAB decreased expression in in infertile men with non-obstructive azoospermia (PMID:26843391)
- Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility. (PMID:37723834)
- Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage. (PMID:38177974)
- PABPC1L Induces IDO1 to Promote Tryptophan Metabolism and Immune Suppression in Renal Cell Carcinoma. (PMID:38382068)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pabpc1l | ENSDARG00000002597 |
| mus_musculus | Pabpc1l | ENSMUSG00000054582 |
| rattus_norvegicus | Pabpc1l | ENSRNOG00000012750 |
Paralogs (24): ELAVL1 (ENSG00000066044), PABPC1 (ENSG00000070756), RBMS2 (ENSG00000076067), PABPC4 (ENSG00000090621), ELAVL2 (ENSG00000107105), RBM24 (ENSG00000112183), TARDBP (ENSG00000120948), HNRNPR (ENSG00000125944), RBM38 (ENSG00000132819), SYNCRIP (ENSG00000135316), SF3B4 (ENSG00000143368), RBMS3 (ENSG00000144642), PABPC3 (ENSG00000151846), RBMS1 (ENSG00000153250), RBM45 (ENSG00000155636), ELAVL4 (ENSG00000162374), PABPC5 (ENSG00000174740), PUF60 (ENSG00000179950), PABPC1L2B (ENSG00000184388), PABPC1L2A (ENSG00000186288), RBM34 (ENSG00000188739), ELAVL3 (ENSG00000196361), RBM14 (ENSG00000239306), PABPC4L (ENSG00000254535)
Protein
Protein identifiers
Polyadenylate-binding protein 1-like — Q4VXU2 (reviewed: Q4VXU2)
Alternative names: Embryonic poly(A)-binding protein, Poly(A) binding protein cytoplasmic 1 like
All UniProt accessions (10): Q4VXU2, A0A6I8PIK9, A0A6I8PL98, A0A6I8PLA1, A0A6I8PS38, A0A6Q8JFT6, A0A6Q8JFV4, H0Y386, Q4VXT5, Q4VXT8
UniProt curated annotations — full annotation on UniProt →
Function. Poly(A)-binding protein involved in oocyte maturation and early embryo development. It is required for cytosolic mRNA polyadenylation and translational activation of maternally stored mRNA in oocytes.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in ovary and testis. Also expressed in pancreas, liver and thymus, and at lower levels in other somatic tissues including brain and lung.
Disease relevance. Oocyte/zygote/embryo maturation arrest 22 (OZEMA22) [MIM:621093] An autosomal recessive, female infertility disorder characterized by oocyte maturation arrest, primarily at the germinal vesicle or metaphase I stages. In some cases, oocyte reaching the metaphase II stage can be fertilized, but embryo development is arrested before the 4-cell stage. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the polyadenylate-binding protein type-1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q4VXU2-1 | 1 | yes |
| Q4VXU2-2 | 2 |
RefSeq proteins (1): NP_001359108* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR002004 | PABP_HYD_C | Domain |
| IPR003954 | RRM_euk-type | Domain |
| IPR006515 | PABP_1234 | Family |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034364 | PABP_RRM1 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR036053 | PABP-dom | Homologous_superfamily |
| IPR045305 | RRM2_I_PABPs | Domain |
Pfam: PF00076, PF00658
UniProt features (19 total): sequence variant 10, domain 5, splice variant 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q4VXU2-F1 | 76.41 | 0.41 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 91 (showing top):
GOBP_OOGENESIS, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_CELL_MATURATION, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_LOBULAR_NORMAL_DN, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_OOCYTE_MATURATION, GOBP_OOCYTE_DIFFERENTIATION, GOBP_FEMALE_GAMETE_GENERATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_POSITIVE_REGULATION_OF_TRANSLATION, GOCC_CYTOPLASMIC_STRESS_GRANULE, GOBP_REGULATION_OF_TRANSLATION
GO Biological Process (6): oocyte maturation (GO:0001556), positive regulation of translation (GO:0045727), cell differentiation (GO:0030154), oogenesis (GO:0048477), regulation of macromolecule metabolic process (GO:0060255), regulation of primary metabolic process (GO:0080090)
GO Molecular Function (5): mRNA 3’-UTR binding (GO:0003730), poly(A) binding (GO:0008143), poly(U) RNA binding (GO:0008266), nucleic acid binding (GO:0003676), RNA binding (GO:0003723)
GO Cellular Component (6): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasmic stress granule (GO:0010494), extracellular exosome (GO:0070062), ribonucleoprotein complex (GO:1990904), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of metabolic process | 2 |
| cellular anatomical structure | 2 |
| developmental process involved in reproduction | 1 |
| cell maturation | 1 |
| oocyte development | 1 |
| translation | 1 |
| regulation of translation | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of protein metabolic process | 1 |
| cellular developmental process | 1 |
| germ cell development | 1 |
| female gamete generation | 1 |
| macromolecule metabolic process | 1 |
| primary metabolic process | 1 |
| mRNA binding | 1 |
| poly-purine tract binding | 1 |
| poly-pyrimidine tract binding | 1 |
| binding | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| extracellular vesicle | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1662 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PABPC1L | PABPN1 | Q86U42 | 870 |
| PABPC1L | EIF4G1 | Q04637 | 798 |
| PABPC1L | CPEB1 | Q9BZB8 | 762 |
| PABPC1L | TENT2 | Q6PIY7 | 719 |
| PABPC1L | EIF4E | P06730 | 703 |
| PABPC1L | PARN | O95453 | 680 |
| PABPC1L | SYMPK | Q92797 | 654 |
| PABPC1L | EIF4E1B | A6NMX2 | 648 |
| PABPC1L | EIF4A1 | P04765 | 642 |
| PABPC1L | EIF4A2 | Q14240 | 642 |
| PABPC1L | DDX6 | P26196 | 634 |
| PABPC1L | LSM14B | Q9BX40 | 616 |
| PABPC1L | PNLDC1 | Q8NA58 | 602 |
| PABPC1L | TNRC6A | Q8NDV7 | 601 |
| PABPC1L | PAN2 | Q504Q3 | 554 |
| PABPC1L | PAIP2 | Q9BPZ3 | 554 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| PAIP2B | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| GSPT2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| PAIP1 | H2AX | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR2 | psi-mi:“MI:0914”(association) | 0.350 | |
| GCM1 | LONP1 | psi-mi:“MI:0914”(association) | 0.350 |
| PABPC5 | APOBEC3DE | psi-mi:“MI:0914”(association) | 0.350 |
| PAIP1 | CASC3 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (48): PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-RNA), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS), PABPC1L (Affinity Capture-MS)
ESM2 similar proteins: A2A5N3, F1QB54, F4HT49, G5EFS2, O04319, O22173, O43347, O64380, P11940, P20965, P21187, P29341, P31209, P42731, P61286, P70318, P86049, Q05196, Q08BH5, Q0P4R6, Q13310, Q22708, Q4VXU2, Q503H1, Q54BM2, Q5R8F7, Q5R9H4, Q5YD48, Q61474, Q6DCB7, Q6DEY7, Q6GR16, Q6IP09, Q6IQE0, Q7T1H5, Q8GZ26, Q8K3P4, Q8LFS6, Q8TBY0, Q920Q6
Diamond homologs: A0A0D1DWZ5, A0JM51, A1CRM1, A1D4K4, A2A5N3, A2Q848, A3LXL0, A4IIM2, A4QUF0, A5DW14, F4HT49, O04319, O14102, O22173, O57406, O64380, O95319, O97018, P04147, P0CB38, P0CP46, P0CP47, P20965, P21187, P28659, P29558, P31209, P32588, P39697, P42731, P60047, P60048, P60049, P60050, Q08E07, Q09442, Q0CR95, Q0U1G2, Q13310, Q15427
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
121 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 10 |
| Likely pathogenic | 0 |
| Uncertain significance | 84 |
| Likely benign | 7 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (10)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1172840 | NM_001372179.1(PABPC1L):c.1037C>T (p.Ala346Val) | Pathogenic |
| 3602609 | NM_001372179.1(PABPC1L):c.290G>A (p.Gly97Asp) | Pathogenic |
| 3602610 | NM_001372179.1(PABPC1L):c.526C>T (p.Arg176Ter) | Pathogenic |
| 3602611 | NM_001372179.1(PABPC1L):c.958dup (p.Ile320fs) | Pathogenic |
| 3602612 | NM_001372179.1(PABPC1L):c.410C>T (p.Ser137Phe) | Pathogenic |
| 3602613 | NM_001372179.1(PABPC1L):c.1121G>A (p.Arg374Gln) | Pathogenic |
| 3602614 | NM_001372179.1(PABPC1L):c.536G>A (p.Arg179Gln) | Pathogenic |
| 3602615 | NM_001372179.1(PABPC1L):c.793C>T (p.Arg265Trp) | Pathogenic |
| 3602616 | NM_001372179.1(PABPC1L):c.1201C>T (p.Gln401Ter) | Pathogenic |
| 3602617 | A346V | Pathogenic |
SpliceAI
3683 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:44910333:GACG:G | donor_gain | 1.0000 |
| 20:44910334:ACGGT:A | donor_loss | 1.0000 |
| 20:44910335:CGGT:C | donor_loss | 1.0000 |
| 20:44910336:GGT:G | donor_loss | 1.0000 |
| 20:44910337:G:GG | donor_gain | 1.0000 |
| 20:44910337:GTGAG:G | donor_loss | 1.0000 |
| 20:44910338:T:A | donor_loss | 1.0000 |
| 20:44912653:T:A | acceptor_gain | 1.0000 |
| 20:44912654:GTCCA:G | acceptor_loss | 1.0000 |
| 20:44912655:TCCAG:T | acceptor_loss | 1.0000 |
| 20:44912656:CCAGC:C | acceptor_loss | 1.0000 |
| 20:44912657:CAGCG:C | acceptor_loss | 1.0000 |
| 20:44912658:A:AG | acceptor_gain | 1.0000 |
| 20:44912658:AG:A | acceptor_loss | 1.0000 |
| 20:44912658:AGC:A | acceptor_gain | 1.0000 |
| 20:44912658:AGCG:A | acceptor_gain | 1.0000 |
| 20:44912659:G:GT | acceptor_gain | 1.0000 |
| 20:44912659:GC:G | acceptor_gain | 1.0000 |
| 20:44912659:GCG:G | acceptor_gain | 1.0000 |
| 20:44912659:GCGG:G | acceptor_gain | 1.0000 |
| 20:44912659:GCGGA:G | acceptor_gain | 1.0000 |
| 20:44912661:G:A | acceptor_gain | 1.0000 |
| 20:44912806:GCTT:G | donor_gain | 1.0000 |
| 20:44912850:CAAGG:C | donor_loss | 1.0000 |
| 20:44912851:AAG:A | donor_loss | 1.0000 |
| 20:44912852:AG:A | donor_loss | 1.0000 |
| 20:44912853:GG:G | donor_loss | 1.0000 |
| 20:44912854:GTAGA:G | donor_loss | 1.0000 |
| 20:44912855:T:G | donor_loss | 1.0000 |
| 20:44916870:GT:G | donor_gain | 1.0000 |
AlphaMissense
4055 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:44916796:T:A | V143D | 1.000 |
| 20:44924181:G:C | K299N | 1.000 |
| 20:44924181:G:T | K299N | 1.000 |
| 20:44930490:T:C | F335L | 1.000 |
| 20:44930492:T:A | F335L | 1.000 |
| 20:44930492:T:G | F335L | 1.000 |
| 20:44930496:T:C | F337L | 1.000 |
| 20:44930498:T:A | F337L | 1.000 |
| 20:44930498:T:G | F337L | 1.000 |
| 20:44916790:G:A | G141D | 0.999 |
| 20:44916792:T:C | F142L | 0.999 |
| 20:44916794:T:A | F142L | 0.999 |
| 20:44916794:T:G | F142L | 0.999 |
| 20:44924171:T:G | L296W | 0.999 |
| 20:44924173:T:G | Y297D | 0.999 |
| 20:44924177:T:A | V298E | 0.999 |
| 20:44924179:A:G | K299E | 0.999 |
| 20:44924184:T:A | N300K | 0.999 |
| 20:44924184:T:G | N300K | 0.999 |
| 20:44924213:T:C | L310P | 0.999 |
| 20:44924224:T:C | F314L | 0.999 |
| 20:44924225:T:C | F314S | 0.999 |
| 20:44924226:C:A | F314L | 0.999 |
| 20:44924226:C:G | F314L | 0.999 |
| 20:44924237:G:A | G318E | 0.999 |
| 20:44930494:G:A | G336D | 0.999 |
| 20:44930497:T:C | F337S | 0.999 |
| 20:44930497:T:G | F337C | 0.999 |
| 20:44930500:T:A | V338E | 0.999 |
| 20:44930590:C:A | A368D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000083379 (20:44928237 A>T), RS1000089307 (20:44916116 G>A), RS1000114583 (20:44927936 G>A), RS1000160191 (20:44914506 C>CATG), RS1000220458 (20:44937332 C>A,T), RS1000261530 (20:44917189 G>A,T), RS1000472941 (20:44922600 A>G), RS1000537729 (20:44910628 C>G), RS1000792824 (20:44934181 T>C), RS1001004140 (20:44928369 G>A), RS1001051874 (20:44910289 G>A), RS1001248942 (20:44917777 G>A,T), RS1001362876 (20:44917458 A>G), RS1001379593 (20:44939657 T>C), RS1001500048 (20:44917345 C>T)
Disease associations
OMIM: gene MIM:621055 | disease phenotypes: MIM:615774, MIM:621093
GenCC curated gene-disease
Mondo (2): female infertility due to zona pellucida defect (MONDO:0014342), oocyte/zygote/embryo maturation arrest 22 (MONDO:0976137)
Orphanet (1): Female infertility due to zona pellucida defect (Orphanet:404466)
HPO phenotypes
7 total (7 of 7 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008222 | Female infertility |
| HP:0011462 | Young adult onset |
| HP:0025708 | Early young adult onset |
| HP:0031516 | Metaphase I oocyte maturation arrest |
| HP:0033712 | Repeated implantation failure |
| HP:0034914 | Oocyte maturation arrest |
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004618_52 | White blood cell count (basophil) | 7.000000e-09 |
| GCST006947_59 | Feeling fed-up | 1.000000e-08 |
| GCST007565_171 | Morning person | 4.000000e-15 |
| GCST007576_251 | Chronotype | 4.000000e-15 |
| GCST008103_18 | Bipolar disorder | 1.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005090 | basophil count |
| EFO:0009588 | feeling “fed-up” measurement |
| EFO:0008328 | chronotype measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 4 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| bisphenol F | affects cotreatment, increases methylation, decreases expression | 2 |
| bisphenol A | affects expression, decreases methylation | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Silicon Dioxide | increases expression, decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Valproic Acid | increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment, affects expression, decreases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| isobutyl alcohol | increases abundance, affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Ethanol | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): female infertility due to zona pellucida defect, oocyte/zygote/embryo maturation arrest 22