EIF1AY
gene geneOn this page
Summary
EIF1AY (eukaryotic translation initiation factor 1A Y-linked, HGNC:3252) is a protein-coding gene on chromosome Yq11.223, encoding Eukaryotic translation initiation factor 1A, Y-chromosomal (O14602). Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5’-untranslated region, and locates the initiation codon.
This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 9086 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 31 total — 1 pathogenic
- MANE Select transcript:
NM_004681
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3252 |
| Approved symbol | EIF1AY |
| Name | eukaryotic translation initiation factor 1A Y-linked |
| Location | Yq11.223 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000198692 |
| Ensembl biotype | protein_coding |
| OMIM | 400014 |
| Entrez | 9086 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 11 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000361365, ENST00000382772, ENST00000464196, ENST00000465253, ENST00000485584, ENST00000886478, ENST00000886479, ENST00000939722, ENST00000939723, ENST00000939724, ENST00000939725, ENST00000939726, ENST00000939727, ENST00000966875
RefSeq mRNA: 2 — MANE Select: NM_004681
NM_001278612, NM_004681
CCDS: CCDS14795, CCDS65368
Canonical transcript exons
ENST00000361365 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001435537 | 20575776 | 20575887 |
| ENSE00001436409 | 20592341 | 20593154 |
| ENSE00001635972 | 20588024 | 20588105 |
| ENSE00003465639 | 20584474 | 20584524 |
| ENSE00003488477 | 20589484 | 20589575 |
| ENSE00003613684 | 20579608 | 20579691 |
| ENSE00003657245 | 20582590 | 20582693 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 96.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.4723 / max 3322.1582, expressed in 934 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 201200 | 29.9927 | 921 |
| 201201 | 7.8851 | 829 |
| 201199 | 5.5945 | 860 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trabecular bone tissue | UBERON:0002483 | 96.89 | gold quality |
| vena cava | UBERON:0004087 | 95.40 | gold quality |
| apex of heart | UBERON:0002098 | 94.75 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 94.38 | gold quality |
| rectum | UBERON:0001052 | 92.12 | gold quality |
| blood vessel layer | UBERON:0004797 | 91.42 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.76 | gold quality |
| right lung | UBERON:0002167 | 90.75 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.35 | gold quality |
| metanephros cortex | UBERON:0010533 | 89.73 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 89.02 | gold quality |
| seminal vesicle | UBERON:0000998 | 88.87 | gold quality |
| prostate gland | UBERON:0002367 | 88.75 | gold quality |
| right testis | UBERON:0004534 | 88.53 | gold quality |
| testis | UBERON:0000473 | 88.42 | gold quality |
| left testis | UBERON:0004533 | 88.21 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.09 | gold quality |
| adenohypophysis | UBERON:0002196 | 86.01 | gold quality |
| urethra | UBERON:0000057 | 85.77 | gold quality |
| synovial joint | UBERON:0002217 | 85.49 | gold quality |
| penis | UBERON:0000989 | 84.58 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.00 | gold quality |
| heart right ventricle | UBERON:0002080 | 83.88 | gold quality |
| parietal pleura | UBERON:0002400 | 83.27 | gold quality |
| upper leg skin | UBERON:0004262 | 83.20 | gold quality |
| endothelial cell | CL:0000115 | 83.06 | gold quality |
| gluteal muscle | UBERON:0002000 | 82.99 | gold quality |
| superficial temporal artery | UBERON:0001614 | 82.92 | gold quality |
| cranial nerve II | UBERON:0000941 | 82.70 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.34 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7407 | yes | 267.92 |
| E-MTAB-10042 | yes | 26.04 |
| E-ANND-3 | yes | 8.32 |
| E-HCAD-9 | yes | 6.34 |
| E-MTAB-11011 | no | 289.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
51 targeting EIF1AY, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-548AG | 99.77 | 69.25 | 1492 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-548AI | 99.69 | 69.24 | 1494 |
| HSA-MIR-548BA | 99.69 | 69.14 | 1514 |
| HSA-MIR-570-5P | 99.69 | 69.24 | 1494 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-885-5P | 99.59 | 68.59 | 879 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
Literature-anchored findings (GeneRIF, showing 2)
- investigated 12 single-nucleotide polymorphisms in Y-linked neuroligin 4, transducin b-like 1, and eukaryotic translation initiation factor 1a genes, results suggest a Y chromosome effect in autism (PMID:19605777)
- The N-terminal tail of eIF1A mediates the interaction with eIF5 and eIF1. (PMID:24319994)
Cross-species orthologs
22 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | eif1axa | ENSDARG00000029003 |
| danio_rerio | eif1axb | ENSDARG00000057912 |
| mus_musculus | Eif1a | ENSMUSG00000057561 |
| mus_musculus | Eif1ad3 | ENSMUSG00000072905 |
| mus_musculus | Eif1ad7 | ENSMUSG00000079029 |
| mus_musculus | Eif1ad2 | ENSMUSG00000079031 |
| mus_musculus | Eif1ad8 | ENSMUSG00000079034 |
| mus_musculus | Eif1ad6 | ENSMUSG00000092019 |
| mus_musculus | Eif1ad15 | ENSMUSG00000093847 |
| mus_musculus | Eif1ad11 | ENSMUSG00000095717 |
| mus_musculus | Eif1ad19 | ENSMUSG00000095724 |
| mus_musculus | Eif1ad10 | ENSMUSG00000095799 |
| mus_musculus | Eif1ad17 | ENSMUSG00000096049 |
| mus_musculus | Eif1ad14 | ENSMUSG00000096619 |
| mus_musculus | Eif1ad16 | ENSMUSG00000096803 |
| mus_musculus | Eif1ad13 | ENSMUSG00000113201 |
| mus_musculus | Eif1ad12 | ENSMUSG00000113805 |
| mus_musculus | Eif1ad4 | ENSMUSG00000113971 |
| mus_musculus | Eif1ad18 | ENSMUSG00000114075 |
| rattus_norvegicus | Eif1a | ENSRNOG00000031421 |
| drosophila_melanogaster | eIF1A | FBGN0026250 |
| caenorhabditis_elegans | WBGENE00019162 |
Paralogs (1): EIF1AX (ENSG00000173674)
Protein
Protein identifiers
Eukaryotic translation initiation factor 1A, Y-chromosomal — O14602 (reviewed: O14602)
Alternative names: Eukaryotic translation initiation factor 4C
All UniProt accessions (2): O14602, A6NJH9
UniProt curated annotations — full annotation on UniProt →
Function. Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5’-untranslated region, and locates the initiation codon. This protein enhances formation of the cap-proximal complex. Together with EIF1, facilitates scanning, start codon recognition, promotion of the assembly of 48S complex at the initiation codon (43S PIC becomes 48S PIC after the start codon is reached), and dissociation of aberrant complexes. After start codon location, together with EIF5B orients the initiator methionine-tRNA in a conformation that allows 60S ribosomal subunit joining to form the 80S initiation complex. Is released after 80S initiation complex formation, just after GTP hydrolysis by EIF5B, and before release of EIF5B. Its globular part is located in the A site of the 40S ribosomal subunit. Its interaction with EIF5 during scanning contribute to the maintenance of EIF1 within the open 43S PIC. In contrast to yeast orthologs, does not bind EIF1.
Subunit / interactions. Component of the 43S pre-initiation complex (43S PIC), which is composed of the 40S ribosomal subunit, EIF1, eIF1A (EIF1AX), eIF3 complex, EIF5 and eIF2-GTP-initiator tRNA complex (eIF2 ternary complex). Interacts with EIF5; this interaction contributes to the maintenance of EIF1 within the open 43S PIC. Interacts through its C-terminal domain (CTD) with the CTD of EIF5B; from the location of the start codon by the 43S complex until the formation of the 80S complex.
Subcellular location. Cytoplasm.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the eIF-1A family.
RefSeq proteins (2): NP_001265541, NP_004672* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001253 | TIF_eIF-1A | Family |
| IPR006196 | RNA-binding_domain_S1_IF1 | Domain |
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR018104 | TIF_eIF-1A_CS | Conserved_site |
Pfam: PF01176
UniProt features (9 total): compositionally biased region 3, region of interest 2, chain 1, domain 1, cross-link 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14602-F1 | 77.59 | 0.43 |
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): 88
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 139 (showing top):
MCLACHLAN_DENTAL_CARIES_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_TRANSLATIONAL_INITIATION, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, GGGTGGRR_PAX4_03, GNF2_ANK1, GOBP_TRANSLATION, MODULE_379, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GNF2_SPTA1, GNF2_PCAF, AACTTT_UNKNOWN, HAHTOLA_SEZARY_SYNDROM_UP, MCDOWELL_ACUTE_LUNG_INJURY_UP, MODULE_242
GO Biological Process (2): translational initiation (GO:0006413), translation (GO:0006412)
GO Molecular Function (4): tRNA binding (GO:0000049), translation initiation factor activity (GO:0003743), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| translational initiation | 2 |
| formation of translation initiation ternary complex | 1 |
| translation | 1 |
| metabolic process | 1 |
| peptidyltransferase activity | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| RNA binding | 1 |
| translation factor activity | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2386 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EIF1AY | DDX3Y | O15523 | 889 |
| EIF1AY | USP9Y | O00507 | 877 |
| EIF1AY | KDM5D | Q9BY66 | 852 |
| EIF1AY | RPS4Y1 | P22090 | 846 |
| EIF1AY | ZFY | P08048 | 836 |
| EIF1AY | UTY | O14607 | 791 |
| EIF1AY | PRKY | O43930 | 771 |
| EIF1AY | RPS4Y2 | Q8TD47 | 750 |
| EIF1AY | NLGN4Y | Q8NFZ3 | 745 |
| EIF1AY | TMSB4Y | O14604 | 740 |
| EIF1AY | A0A087WUC5 | A0A087WUC5 | 618 |
| EIF1AY | EIF4A2 | Q14240 | 610 |
| EIF1AY | AMELY | Q99218 | 607 |
| EIF1AY | HSFY1 | Q96LI6 | 606 |
| EIF1AY | BPY2 | O14599 | 604 |
IntAct
39 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EIF1AY | ATXN1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HNF4A | EIF1AY | psi-mi:“MI:0915”(physical association) | 0.560 |
| EIF1AY | HTT | psi-mi:“MI:0915”(physical association) | 0.560 |
| EIF1AY | EIF1AX | psi-mi:“MI:0914”(association) | 0.530 |
| EIF1AY | EIF5B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SRPK2 | EIF1AY | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| APP | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CD74 | psi-mi:“MI:0914”(association) | 0.350 | |
| DDX60 | G6PD | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKD1 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| MAP2K3 | USP9Y | psi-mi:“MI:0914”(association) | 0.350 |
| IMMP1L | EIF1AY | psi-mi:“MI:0914”(association) | 0.350 |
| IMMP2L | ANKHD1-EIF4EBP3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (58): EIF1AY (Affinity Capture-MS), EIF1AY (Two-hybrid), EIF1AY (Affinity Capture-MS), EIF1AX (Affinity Capture-MS), KLHL36 (Affinity Capture-MS), EIF1AY (Affinity Capture-MS), EIF1AY (Affinity Capture-MS), EIF1AY (Affinity Capture-MS), EIF1AY (Affinity Capture-MS), EIF1AY (Affinity Capture-MS), EIF1AY (Affinity Capture-MS), EIF1AY (Affinity Capture-MS), EIF1AY (Affinity Capture-MS), EIF1AY (Affinity Capture-MS), EIF1AY (Affinity Capture-MS)
ESM2 similar proteins: A0A324, A1XQR9, A4FUI2, A5JSS2, A6MZM2, G1SHQ2, O09167, O14602, O35900, O60739, P20280, P25800, P41567, P46778, P47813, P48024, P49666, P51971, P61220, P62303, P62304, P62305, P62308, P62309, Q09028, Q0D5W6, Q0P5B3, Q2KIA3, Q3B8H4, Q3ZBL0, Q4R4X9, Q503U0, Q5E938, Q5RA42, Q5RBW7, Q5RFF4, Q60872, Q60972, Q6GVM3, Q6QN05
Diamond homologs: A2STQ8, A4FYM5, A4YEH8, A6UUK8, A6VJQ7, A9A6C2, B0R7D8, B8D5N1, C3MK60, C3MU29, C3N0P1, C3N8M9, C3NMA0, C4KK84, O14602, O27085, O29481, O59280, P38912, P47813, P47814, P47815, P55877, P56331, P57676, Q03590, Q12YN5, Q18EX1, Q18JF4, Q2NEP1, Q3IT14, Q469I9, Q469J2, Q4JA54, Q54YJ6, Q57887, Q5JH78, Q5RA42, Q5UZM2, Q60872
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EIF1AY | “up-regulates activity” | Ternary_GTP_eIF2_tRNA_complex | relocalization |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 33 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of gene expression | 6 | 8.0× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 870521 | GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)x0 | Pathogenic |
SpliceAI
1314 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| Y:20579598:A:AG | acceptor_gain | 1.0000 |
| Y:20579688:CAAGG:C | donor_loss | 1.0000 |
| Y:20579689:AAGGT:A | donor_loss | 1.0000 |
| Y:20579692:G:GC | donor_loss | 1.0000 |
| Y:20579693:T:A | donor_loss | 1.0000 |
| Y:20582588:A:AG | acceptor_gain | 1.0000 |
| Y:20582589:G:GG | acceptor_gain | 1.0000 |
| Y:20582589:GA:G | acceptor_gain | 1.0000 |
| Y:20588021:A:AG | acceptor_gain | 1.0000 |
| Y:20588021:AAG:A | acceptor_gain | 1.0000 |
| Y:20588022:A:G | acceptor_gain | 1.0000 |
| Y:20588103:ATGGT:A | donor_loss | 1.0000 |
| Y:20588105:GGTAA:G | donor_loss | 1.0000 |
| Y:20588106:G:GC | donor_loss | 1.0000 |
| Y:20588106:G:GG | donor_gain | 1.0000 |
| Y:20588107:T:A | donor_loss | 1.0000 |
| Y:20588692:GCC:G | donor_gain | 1.0000 |
| Y:20588694:C:CG | donor_gain | 1.0000 |
| Y:20588694:C:G | donor_gain | 1.0000 |
| Y:20589482:A:AG | acceptor_gain | 1.0000 |
| Y:20589483:G:GG | acceptor_gain | 1.0000 |
| Y:20589483:GCT:G | acceptor_gain | 1.0000 |
| Y:20589483:GCTA:G | acceptor_gain | 1.0000 |
| Y:20589483:GCTAA:G | acceptor_gain | 1.0000 |
| Y:20589571:ATGAT:A | donor_gain | 1.0000 |
| Y:20589572:TGAT:T | donor_gain | 1.0000 |
| Y:20589573:GAT:G | donor_gain | 1.0000 |
| Y:20589573:GATG:G | donor_gain | 1.0000 |
| Y:20589574:AT:A | donor_gain | 1.0000 |
| Y:20589574:ATG:A | donor_loss | 1.0000 |
AlphaMissense
966 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| Y:20579613:G:A | G8R | 1.000 |
| Y:20579613:G:C | G8R | 1.000 |
| Y:20579614:G:A | G8E | 1.000 |
| Y:20579617:G:A | G9D | 1.000 |
| Y:20579628:C:A | R13S | 1.000 |
| Y:20579632:G:C | R14T | 1.000 |
| Y:20579632:G:T | R14M | 1.000 |
| Y:20579633:G:C | R14S | 1.000 |
| Y:20579633:G:T | R14S | 1.000 |
| Y:20582592:T:C | Y35H | 1.000 |
| Y:20582595:G:C | A36P | 1.000 |
| Y:20582596:C:A | A36D | 1.000 |
| Y:20582602:T:A | V38E | 1.000 |
| Y:20582616:G:A | G43R | 1.000 |
| Y:20582616:G:C | G43R | 1.000 |
| Y:20582617:G:A | G43E | 1.000 |
| Y:20582617:G:T | G43V | 1.000 |
| Y:20582623:G:A | G45E | 1.000 |
| Y:20582626:G:C | R46P | 1.000 |
| Y:20582629:T:G | L47W | 1.000 |
| Y:20582640:T:C | C51R | 1.000 |
| Y:20582641:G:A | C51Y | 1.000 |
| Y:20582642:T:G | C51W | 1.000 |
| Y:20582659:G:C | R57T | 1.000 |
| Y:20582659:G:T | R57M | 1.000 |
| Y:20582660:G:C | R57S | 1.000 |
| Y:20582660:G:T | R57S | 1.000 |
| Y:20582664:T:C | C59R | 1.000 |
| Y:20582665:G:A | C59Y | 1.000 |
| Y:20582666:C:G | C59W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000190714 (Y:20586834 T>C), RS1000556477 (Y:20581531 C>T), RS1000624790 (Y:20587583 T>C), RS1000919475 (Y:20580345 G>T), RS1004212641 (Y:20575073 A>G), RS1006315056 (Y:20580102 T>G), RS1006660285 (Y:20584863 A>G), RS1006788607 (Y:20590923 T>C), RS1006793011 (Y:20583482 A>G), RS1008334129 (Y:20577462 T>G), RS1008468096 (Y:20575609 G>C), RS1009205644 (Y:20578014 T>A), RS1012902336 (Y:20589096 A>G), RS1013242227 (Y:20583231 T>G), RS1018144628 (Y:20583681 C>T)
Disease associations
OMIM: gene MIM:400014 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): male infertility (MONDO:0005372)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010733_6 | Autism | 3.000000e-09 |
| GCST010733_7 | Autism | 5.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007248 | Infertility, Male | C12.100.500.430; C12.100.750.700; C12.200.294.430 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| arsenite | increases reaction, decreases methylation, increases expression, affects binding | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| tobacco tar | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| MRK 003 | increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 1 |
| Benztropine | affects cotreatment, decreases expression | 1 |
| Cannabidiol | affects cotreatment, decreases expression | 1 |
| Chromium | decreases expression | 1 |
| Cuprizone | affects cotreatment, decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Gold | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Piroxicam | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Valproic Acid | affects cotreatment, increases expression | 1 |
| Vanadates | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
125 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02202382 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Male Infertility |
| NCT02204826 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study |
| NCT03802864 | PHASE4 | COMPLETED | Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine |
| NCT06100432 | PHASE4 | ACTIVE_NOT_RECRUITING | Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males |
| NCT07523022 | PHASE4 | ENROLLING_BY_INVITATION | Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups |
| NCT00975117 | PHASE3 | COMPLETED | Spermotrend in the Treatment of Male Infertility |
| NCT01407432 | PHASE3 | COMPLETED | Impact of Folates in the Care of the Male Infertility |
| NCT01895816 | PHASE3 | COMPLETED | Herbal Tonic Fertile Supplement(ZO2C5) |
| NCT02605070 | PHASE3 | TERMINATED | Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia |
| NCT07402759 | PHASE3 | ACTIVE_NOT_RECRUITING | Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men |
| NCT01880086 | PHASE2 | COMPLETED | Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration |
| NCT02061384 | PHASE2 | COMPLETED | RA-2 13-cis Retinoic Acid (Isotretinoin) |
| NCT02421887 | PHASE2 | COMPLETED | Males, Antioxidants, and Infertility Trial |
| NCT05200663 | PHASE2 | UNKNOWN | Efficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility |
| NCT05290558 | PHASE2 | ACTIVE_NOT_RECRUITING | The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial |
| NCT06091969 | PHASE2 | NOT_YET_RECRUITING | Supplementation for Male Subfertility |
| NCT01595308 | PHASE1 | COMPLETED | A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers |
| NCT02122211 | PHASE1 | COMPLETED | Choline Dehydrogenase and Sperm Function: Effects of Betaine |
| NCT02575924 | PHASE1 | UNKNOWN | Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility |
| NCT01304927 | PHASE2/PHASE3 | COMPLETED | Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial |
| NCT02349945 | PHASE2/PHASE3 | COMPLETED | FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy |
| NCT05222841 | PHASE2/PHASE3 | COMPLETED | The Effectiveness of Spermotrend Food Supplement in the Treatment of Male Infertility |
| NCT05616598 | PHASE2/PHASE3 | COMPLETED | Effect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters |
| NCT02025270 | PHASE1/PHASE2 | COMPLETED | MSCs For Treatment of Azoospermic Patients |
| NCT04541459 | EARLY_PHASE1 | UNKNOWN | Validation of New Devices Against Ambient Electromagnetic Radiation |
| NCT05792813 | EARLY_PHASE1 | UNKNOWN | Efficacy and Safety of Linggui Yangyuan Paste in Patients With Male Infertility |
| NCT06188936 | EARLY_PHASE1 | COMPLETED | Home Semen Analysis Tests As a Screening Tool for Fertility Patients |
| NCT00012480 | Not specified | COMPLETED | Effect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm |
| NCT00044369 | Not specified | COMPLETED | Role of the Toxic Metal Cadmium in the Mechanism Producing Infertility With a Varicocele |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
| NCT00178516 | Not specified | COMPLETED | Vitamin E and Male Infertility |
| NCT00315029 | Not specified | COMPLETED | Patient-Centered Implementation Trial for Single Embryo Transfer |
| NCT00341120 | Not specified | COMPLETED | Genetic Causes of Male Infertility |
| NCT00481403 | Not specified | COMPLETED | Study of Sperm Molecular Factors Implicated in Male Fertility |
| NCT00548977 | Not specified | COMPLETED | Genetic Studies Spermatogenic Failure |
| NCT00596739 | Not specified | COMPLETED | A Study of the Pre- and Post-operative Semen Analyses and Reproductive Hormone Levels of Men Undergoing Weight-reduction Surgery |
| NCT00756561 | Not specified | COMPLETED | HOP-2A - Intratesticular Hormone Levels |
| NCT00961558 | Not specified | TERMINATED | Canadian Varicocelectomy Initiative (CVI): Effects on Male Fertility and Testicular Function of Varicocelectomy |
| NCT01075334 | Not specified | UNKNOWN | Is a Carnitine Based Food Supplement (PorimoreTM) for Infertile Men Superior to Folate and Zinc With Regard to Pregnancy Rates in Intrauterine Insemination Cycles? |
| NCT01178463 | Not specified | UNKNOWN | Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): male infertility