TLE6
gene geneOn this page
Also known as FLJ14009GRG6
Summary
TLE6 (TLE family member 6, subcortical maternal complex member, HGNC:30788) is a protein-coding gene on chromosome 19p13.3, encoding Transducin-like enhancer protein 6 (Q9H808). Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development.
This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 79816 — RefSeq curated summary.
At a glance
- Gene–disease (curated): preimplantation embryonic lethality 1 (Strong, GenCC)
- Clinical variants (ClinVar): 167 total — 2 pathogenic, 5 likely-pathogenic
- Phenotypes (HPO): 7
- MANE Select transcript:
NM_001143986
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30788 |
| Approved symbol | TLE6 |
| Name | TLE family member 6, subcortical maternal complex member |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14009, GRG6 |
| Ensembl gene | ENSG00000104953 |
| Ensembl biotype | protein_coding |
| OMIM | 612399 |
| Entrez | 79816 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron
ENST00000246112, ENST00000452088, ENST00000453329, ENST00000468176, ENST00000469572, ENST00000474207, ENST00000478073, ENST00000482627, ENST00000497878, ENST00000591953, ENST00000958788
RefSeq mRNA: 2 — MANE Select: NM_001143986
NM_001143986, NM_024760
CCDS: CCDS12100, CCDS45910
Canonical transcript exons
ENST00000246112 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001734209 | 2994900 | 2995179 |
| ENSE00001859956 | 2977564 | 2977610 |
| ENSE00003458283 | 2986829 | 2986891 |
| ENSE00003465622 | 2989061 | 2989313 |
| ENSE00003503281 | 2991843 | 2991984 |
| ENSE00003519028 | 2987356 | 2987372 |
| ENSE00003543514 | 2987724 | 2987790 |
| ENSE00003562884 | 2978198 | 2978284 |
| ENSE00003586292 | 2980100 | 2980182 |
| ENSE00003592272 | 2986983 | 2987238 |
| ENSE00003599405 | 2989535 | 2989785 |
| ENSE00003615752 | 2987898 | 2987974 |
| ENSE00003631498 | 2982148 | 2982189 |
| ENSE00003636478 | 2981538 | 2981583 |
| ENSE00003637196 | 2988091 | 2988128 |
| ENSE00003650641 | 2994019 | 2994095 |
| ENSE00003677814 | 2993432 | 2993582 |
Expression profiles
Bgee: expression breadth ubiquitous, 168 present calls, max score 93.27.
FANTOM5 (CAGE): breadth broad, TPM avg 0.6118 / max 42.3103, expressed in 304 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 173133 | 0.6118 | 304 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 93.27 | gold quality |
| secondary oocyte | CL:0000655 | 86.74 | gold quality |
| buccal mucosa cell | CL:0002336 | 84.51 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 84.23 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.21 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 82.11 | gold quality |
| thyroid gland | UBERON:0002046 | 81.23 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.49 | gold quality |
| decidua | UBERON:0002450 | 76.74 | gold quality |
| apex of heart | UBERON:0002098 | 74.03 | gold quality |
| parotid gland | UBERON:0001831 | 73.99 | gold quality |
| right lobe of liver | UBERON:0001114 | 73.69 | gold quality |
| right lung | UBERON:0002167 | 73.67 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 73.53 | gold quality |
| pancreatic ductal cell | CL:0002079 | 73.35 | silver quality |
| descending thoracic aorta | UBERON:0002345 | 72.47 | gold quality |
| metanephros cortex | UBERON:0010533 | 72.18 | gold quality |
| ventricular zone | UBERON:0003053 | 71.45 | gold quality |
| islet of Langerhans | UBERON:0000006 | 71.31 | gold quality |
| left uterine tube | UBERON:0001303 | 71.26 | gold quality |
| body of uterus | UBERON:0009853 | 71.07 | gold quality |
| hypothalamus | UBERON:0001898 | 70.99 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 70.88 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 70.82 | gold quality |
| endocervix | UBERON:0000458 | 70.65 | gold quality |
| adenohypophysis | UBERON:0002196 | 70.49 | gold quality |
| thoracic aorta | UBERON:0001515 | 70.03 | gold quality |
| ascending aorta | UBERON:0001496 | 69.92 | gold quality |
| ectocervix | UBERON:0012249 | 69.91 | gold quality |
| right testis | UBERON:0004534 | 69.81 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.80 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXG1, HLF, PAX6, TCF3
miRNA regulators (miRDB)
4 targeting TLE6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-5187-5P | 98.54 | 67.94 | 952 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
Literature-anchored findings (GeneRIF, showing 6)
- Expression of Tle6-like in colon cancer cells increased cell proliferation, colony-formation, cell migration, and xenograft tumorgenicity. (PMID:18551179)
- transcriptional programmes regulated by FOXG1 and Groucho/TLE are important for BTIC-initiated brain tumour growth, implicating FOXG1 and Groucho/TLE in GBM tumourigenesis (PMID:24356439)
- In this first report of a human defect in a member of the subcortical maternal subcritical maternal complex, we show that the TLE6 mutation is gender-specific and leads to the earliest known human embryonic lethality phenotype (PMID:26537248)
- Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations. (PMID:31897846)
- Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development. (PMID:34036456)
- A novel TLE6 mutation, c.541+1G>A, identified using whole-exome sequencing in a Chinese family with female infertility. (PMID:34264011)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tle6 | ENSMUSG00000034758 |
| rattus_norvegicus | Tle6 | ENSRNOG00000006350 |
Paralogs (6): TLE2 (ENSG00000065717), TLE5 (ENSG00000104964), TLE4 (ENSG00000106829), TLE3 (ENSG00000140332), TLE1 (ENSG00000196781), TLE7 (ENSG00000260734)
Protein
Protein identifiers
Transducin-like enhancer protein 6 — Q9H808 (reviewed: Q9H808)
All UniProt accessions (3): Q9H808, C9J532, K7ENW8
UniProt curated annotations — full annotation on UniProt →
Function. Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development. The SCMC complex is a structural constituent of cytoplasmic lattices, which consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos. They are required to store maternal proteins critical for embryonic development, such as proteins that control epigenetic reprogramming of the preimplantation embryo, and prevent their degradation or activation. Also required for spermatogenesis: regulates spermatogonia proliferation and cell cycle progression, potentially via regulation of cell cycle regulatory genes such as; CEBPB, CEBPA, CSF3, PCNA, and CDK4. Suppresses FOXG1/BF-1-mediated transcriptional repression by inhibiting interaction of the transcriptional corepressor TLE1 with FOXG1 which promotes cortical neuron differentiation. Acts as a transcriptional corepressor of NFATC1-mediated gene expression by contributing to PAX6-mediated repression. Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development.
Subunit / interactions. Homodimers. Component of the subcortical maternal complex (SCMC), at least composed of NLRP5, KHDC3, OOEP, and TLE6. Within the complex, interacts with NLRP5, KHDC3 and OOEP. The SCMC may facilitate translocation of its components between the nuclear and cytoplasmic compartments. As part of the SCMC interacts with the SCMC-associated protein ZBED3. As part of the SCMC interacts with the SCMC-associated protein NLRP4F. As part of the SCMC interacts with the SCMC-associated protein CFL1/Cofilin-1. Interacts with FOXG1/BF-1; the interaction inhibits TLE1 interaction with FOXG1/BF-1. Interacts with NFATC1. Interacts with PAX6. Component of the subcortical maternal complex (SCMC), at least composed of NLRP5, KHDC3L, OOEP, and TLE6 isoform 1. Within the complex, interacts with NLRP5, KHDC3L and OOEP. The SCMC may facilitate translocation of its components between the nuclear and cytoplasmic compartments.
Subcellular location. Cytoplasm. Nucleus Cytoplasm Cytoplasm.
Disease relevance. Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814] A rare cause of female primary infertility. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. Contrary to other WD repeat Groucho/TLE family members, does not contain any identifiable Q, GP, CcN or SP domains. Only the C-terminal WD-repeat domain is conserved.
Similarity. Belongs to the WD repeat Groucho/TLE family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H808-1 | 1 | yes |
| Q9H808-2 | 2 |
RefSeq proteins (2): NP_001137458, NP_079036 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR009146 | Groucho_enhance | Family |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
Pfam: PF00400
UniProt features (65 total): strand 32, sequence variant 13, repeat 7, turn 4, region of interest 3, helix 2, chain 1, compositionally biased region 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8X7V | ELECTRON MICROSCOPY | 3.01 |
| 8X7W | ELECTRON MICROSCOPY | 3.36 |
| 9L4L | ELECTRON MICROSCOPY | 3.4 |
| 9L4K | ELECTRON MICROSCOPY | 3.41 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H808-F1 | 66.29 | 0.37 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 510
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 193 (showing top):
GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_SPINDLE_LOCALIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_MALE_GAMETE_GENERATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_REGULATION_OF_CELL_DIVISION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_MULTI_MULTICELLULAR_ORGANISM_PROCESS, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION
GO Biological Process (15): negative regulation of transcription by RNA polymerase II (GO:0000122), actin filament organization (GO:0007015), spermatogenesis (GO:0007283), flagellated sperm motility (GO:0030317), positive regulation of embryonic development (GO:0040019), epigenetic programming in the zygotic pronuclei (GO:0044725), establishment of spindle localization (GO:0051293), regulation of cell division (GO:0051302), endoplasmic reticulum localization (GO:0051643), mitochondrion localization (GO:0051646), embryonic process involved in female pregnancy (GO:0060136), negative regulation of canonical Wnt signaling pathway (GO:0090090), protein storage (GO:0140089), regulation of DNA-templated transcription (GO:0006355), developmental process (GO:0032502)
GO Molecular Function (3): transcription corepressor activity (GO:0003714), structural constituent of cytoplasmic lattice (GO:0140094), protein binding (GO:0005515)
GO Cellular Component (8): nucleus (GO:0005634), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737), cell cortex (GO:0005938), protein-containing complex (GO:0032991), sperm midpiece (GO:0097225), subcortical maternal complex (GO:0106333), cytoplasmic lattice (GO:0140095)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of DNA-templated transcription | 2 |
| embryo development | 2 |
| organelle localization | 2 |
| protein-containing complex | 2 |
| cellular anatomical structure | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| actin cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| regulation of embryonic development | 1 |
| positive regulation of developmental process | 1 |
| positive regulation of multicellular organismal process | 1 |
| epigenetic programming of gene expression | 1 |
| microtubule cytoskeleton organization | 1 |
| establishment of localization in cell | 1 |
| spindle localization | 1 |
| establishment of organelle localization | 1 |
| regulation of cellular process | 1 |
| cell division | 1 |
| endoplasmic reticulum organization | 1 |
| female pregnancy | 1 |
| embryo development ending in birth or egg hatching | 1 |
| multicellular organismal reproductive process | 1 |
| negative regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| nutrient storage | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| biological_process | 1 |
| transcription coregulator activity | 1 |
| structural molecule activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
684 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TLE6 | OOEP | A6NGQ2 | 999 |
| TLE6 | PADI6 | Q6TGC4 | 950 |
| TLE6 | NLRP5 | P59047 | 932 |
| TLE6 | KHDC3L | Q587J8 | 916 |
| TLE6 | NLRP2 | Q9NX02 | 813 |
| TLE6 | HLF | Q16534 | 788 |
| TLE6 | ZBED3 | Q96IU2 | 689 |
| TLE6 | PATL2 | C9JE40 | 672 |
| TLE6 | SRPX2 | O60687 | 668 |
| TLE6 | WEE2 | P0C1S8 | 643 |
| TLE6 | A0A087WTN9 | A0A087WTN9 | 640 |
| TLE6 | TCF3 | P15883 | 639 |
| TLE6 | TLE5 | Q08117 | 621 |
| TLE6 | TUBB8 | Q3ZCM7 | 591 |
| TLE6 | DBP | Q10586 | 588 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TLE6 | BDNF | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLK6 | TLE6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLE6 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| KHDC3L | OOEP | psi-mi:“MI:0403”(colocalization) | 0.460 |
| TLE6 | NLRP7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TLE6 | NUDC | psi-mi:“MI:0915”(physical association) | 0.400 |
| TLE6 | RPL14 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (10): TLE6 (Affinity Capture-Western), TLE6 (Reconstituted Complex), TLE6 (Affinity Capture-Western), TLE6 (Reconstituted Complex), TLE6 (Affinity Capture-MS), TLE6 (Two-hybrid), CAND1 (Cross-Linking-MS (XL-MS)), TLE6 (Proximity Label-MS), TLE6 (Proximity Label-MS), TLE6 (Two-hybrid)
ESM2 similar proteins: A0A140LI67, A0A1W2PR48, A0JP70, D3YYM4, F1LW30, O13034, O15040, O70173, Q15345, Q3SXM0, Q3UDP0, Q3UJB9, Q3ULW6, Q3V129, Q3ZAV8, Q58DC2, Q5F479, Q5JV73, Q5M9H0, Q5M9H1, Q5R6T6, Q5R9H2, Q68DX3, Q6IRN0, Q6NV72, Q6P2E9, Q6P4K6, Q6PCD5, Q6ZPG2, Q6ZW76, Q7TNH6, Q80TQ5, Q8BLD6, Q8C008, Q8C5V5, Q8CBW4, Q8CIK8, Q8IWE5, Q8JZL1, Q8K1C9
Diamond homologs: A0A1W2PR48, O02482, O13166, O13168, O42469, O42478, P16371, Q04724, Q04725, Q04726, Q04727, Q07141, Q08122, Q62440, Q62441, Q9H808, Q9JIT3, Q9WVB2, Q9WVB3, A2RRU3, O14435, O42470, O94365, P16520, P40066, P63002, P63003, P79083, Q08117, Q10281, Q5A7Q3, Q5GIS3, Q5REE0, Q8C7V3, Q8TED0, A6ZQL5, A8XZJ9, P47025, Q06078, Q08924
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PHF12 | “up-regulates activity” | TLE6 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
167 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 5 |
| Uncertain significance | 102 |
| Likely benign | 32 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1691503 | NM_001143986.2(TLE6):c.1054G>C (p.Gly352Arg) | Pathogenic |
| 2160860 | NM_001143986.2(TLE6):c.665dup (p.Ser223fs) | Pathogenic |
| 2064539 | NM_001143986.2(TLE6):c.741-1G>C | Likely pathogenic |
| 222026 | NM_001143986.2(TLE6):c.1529C>A (p.Ser510Tyr) | Likely pathogenic |
| 4796590 | NM_001143986.2(TLE6):c.376del (p.Thr126fs) | Likely pathogenic |
| 4849455 | NM_001143986.2(TLE6):c.1147C>T (p.Gln383Ter) | Likely pathogenic |
| 812696 | NM_001143986.2(TLE6):c.805_806del (p.Lys269fs) | Likely pathogenic |
SpliceAI
2258 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:2977615:GGGAC:G | donor_gain | 1.0000 |
| 19:2977616:GGACG:G | donor_gain | 1.0000 |
| 19:2977620:G:GG | donor_gain | 1.0000 |
| 19:2980098:A:AG | acceptor_gain | 1.0000 |
| 19:2980099:G:GA | acceptor_gain | 1.0000 |
| 19:2980099:GCCTT:G | acceptor_gain | 1.0000 |
| 19:2986888:GGAG:G | donor_gain | 1.0000 |
| 19:2986889:GAGG:G | donor_gain | 1.0000 |
| 19:2986892:G:C | donor_loss | 1.0000 |
| 19:2986972:T:TA | acceptor_gain | 1.0000 |
| 19:2986975:C:CA | acceptor_gain | 1.0000 |
| 19:2986976:G:A | acceptor_gain | 1.0000 |
| 19:2986978:GCCA:G | acceptor_loss | 1.0000 |
| 19:2986980:CA:C | acceptor_loss | 1.0000 |
| 19:2986981:A:AG | acceptor_gain | 1.0000 |
| 19:2986981:A:C | acceptor_loss | 1.0000 |
| 19:2986981:AG:A | acceptor_gain | 1.0000 |
| 19:2986982:G:GG | acceptor_gain | 1.0000 |
| 19:2986982:GG:G | acceptor_gain | 1.0000 |
| 19:2986982:GGT:G | acceptor_gain | 1.0000 |
| 19:2986982:GGTC:G | acceptor_gain | 1.0000 |
| 19:2986982:GGTCT:G | acceptor_gain | 1.0000 |
| 19:2987221:C:T | donor_gain | 1.0000 |
| 19:2987234:CAGAC:C | donor_gain | 1.0000 |
| 19:2987235:AGAC:A | donor_gain | 1.0000 |
| 19:2987236:GAC:G | donor_gain | 1.0000 |
| 19:2987236:GACG:G | donor_gain | 1.0000 |
| 19:2987237:AC:A | donor_gain | 1.0000 |
| 19:2987237:ACGT:A | donor_loss | 1.0000 |
| 19:2987239:G:GA | donor_loss | 1.0000 |
AlphaMissense
3779 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:2989757:T:A | W406R | 0.992 |
| 19:2989757:T:C | W406R | 0.992 |
| 19:2989254:T:A | W312R | 0.987 |
| 19:2989254:T:C | W312R | 0.987 |
| 19:2989759:G:C | W406C | 0.987 |
| 19:2989759:G:T | W406C | 0.987 |
| 19:2989256:G:C | W312C | 0.983 |
| 19:2989256:G:T | W312C | 0.983 |
| 19:2989625:T:A | W362R | 0.983 |
| 19:2989625:T:C | W362R | 0.983 |
| 19:2989203:A:C | S295R | 0.981 |
| 19:2989205:C:A | S295R | 0.981 |
| 19:2989205:C:G | S295R | 0.981 |
| 19:2989225:T:C | F302S | 0.981 |
| 19:2989224:T:C | F302L | 0.980 |
| 19:2989226:C:A | F302L | 0.980 |
| 19:2989226:C:G | F302L | 0.980 |
| 19:2989733:T:C | F398L | 0.980 |
| 19:2989735:C:A | F398L | 0.980 |
| 19:2989735:C:G | F398L | 0.980 |
| 19:2994024:T:A | W515R | 0.979 |
| 19:2994024:T:C | W515R | 0.979 |
| 19:2991901:T:A | W435R | 0.977 |
| 19:2991901:T:C | W435R | 0.977 |
| 19:2993570:T:C | F509L | 0.977 |
| 19:2993572:C:A | F509L | 0.977 |
| 19:2993572:C:G | F509L | 0.977 |
| 19:2989587:T:C | L349P | 0.974 |
| 19:2994027:T:A | W516R | 0.973 |
| 19:2994027:T:C | W516R | 0.973 |
dbSNP variants (sampled 300 via entrez): RS1000060681 (19:2977833 G>A), RS1000080333 (19:2985228 C>T), RS1000168507 (19:2981885 T>G), RS1000205983 (19:2979823 A>G,T), RS1000394870 (19:2993921 A>C,G,T), RS1000480362 (19:2986503 C>G), RS1000646304 (19:2981891 G>C), RS1000655120 (19:2990550 G>T), RS1000681957 (19:2977664 T>G), RS1000766885 (19:2994326 C>A), RS1000818380 (19:2977465 C>T), RS1000912438 (19:2991075 G>A), RS1001127879 (19:2983188 AACC>A), RS1001201029 (19:2994177 C>CA), RS1001288665 (19:2978629 G>C)
Disease associations
OMIM: gene MIM:612399 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| preimplantation embryonic lethality 1 | Strong | Autosomal recessive |
Mondo (1): (MONDO:0014783)
Orphanet (0):
HPO phenotypes
7 total (7 of 7 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000147 | Polycystic ovaries |
| HP:0008222 | Female infertility |
| HP:0008669 | Abnormal spermatogenesis |
| HP:0020155 | Abnormal oocyte morphology |
| HP:0031515 | Abnormal meiosis |
| HP:0031516 | Metaphase I oocyte maturation arrest |
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sotorasib | affects cotreatment, decreases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Pioglitazone | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation, affects methylation | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Oxygen | increases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | affects methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.