SYCP2
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Also known as SCP2
Summary
SYCP2 (synaptonemal complex protein 2, HGNC:11490) is a protein-coding gene on chromosome 20q13.33, encoding Synaptonemal complex protein 2 (Q9BX26). Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase.
The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex.
Source: NCBI Gene 10388 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 1 (Strong, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 239 total — 3 likely-pathogenic
- Phenotypes (HPO): 22
- MANE Select transcript:
NM_014258
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11490 |
| Approved symbol | SYCP2 |
| Name | synaptonemal complex protein 2 |
| Location | 20q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SCP2 |
| Ensembl gene | ENSG00000196074 |
| Ensembl biotype | protein_coding |
| OMIM | 604105 |
| Entrez | 10388 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000357552, ENST00000371001, ENST00000412613, ENST00000425931, ENST00000446834, ENST00000461538, ENST00000471331, ENST00000474749, ENST00000476314
RefSeq mRNA: 1 — MANE Select: NM_014258
NM_014258
CCDS: CCDS13482
Canonical transcript exons
ENST00000357552 — 45 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000907068 | 59865388 | 59865444 |
| ENSE00000907069 | 59865573 | 59865651 |
| ENSE00000907070 | 59865807 | 59865865 |
| ENSE00000907071 | 59866293 | 59866392 |
| ENSE00000907072 | 59866495 | 59866589 |
| ENSE00000907073 | 59867711 | 59867847 |
| ENSE00000907074 | 59868413 | 59868568 |
| ENSE00000907075 | 59868835 | 59868925 |
| ENSE00001366498 | 59863571 | 59864388 |
| ENSE00001380750 | 59932062 | 59932154 |
| ENSE00001601567 | 59900138 | 59900284 |
| ENSE00001617081 | 59919158 | 59919182 |
| ENSE00001618540 | 59911750 | 59911845 |
| ENSE00001641279 | 59893524 | 59893593 |
| ENSE00001644530 | 59877385 | 59877555 |
| ENSE00001649143 | 59893142 | 59893199 |
| ENSE00001653287 | 59891990 | 59892426 |
| ENSE00001656633 | 59873856 | 59874061 |
| ENSE00001658340 | 59869798 | 59869983 |
| ENSE00001668824 | 59875271 | 59875469 |
| ENSE00001679488 | 59896429 | 59896528 |
| ENSE00001705820 | 59915465 | 59915550 |
| ENSE00001715853 | 59880303 | 59880471 |
| ENSE00001719582 | 59892568 | 59892701 |
| ENSE00001730062 | 59886707 | 59886834 |
| ENSE00001739252 | 59895437 | 59895597 |
| ENSE00001739719 | 59916486 | 59916571 |
| ENSE00001746369 | 59921310 | 59921453 |
| ENSE00001758808 | 59900744 | 59900818 |
| ENSE00001759550 | 59878008 | 59878045 |
| ENSE00002175541 | 59919493 | 59919597 |
| ENSE00002307233 | 59922390 | 59922459 |
| ENSE00003477730 | 59881945 | 59882002 |
| ENSE00003479966 | 59907364 | 59907424 |
| ENSE00003486785 | 59882095 | 59882165 |
| ENSE00003490825 | 59901662 | 59901810 |
| ENSE00003502598 | 59913975 | 59914027 |
| ENSE00003525999 | 59920359 | 59920487 |
| ENSE00003531952 | 59915165 | 59915199 |
| ENSE00003533505 | 59914109 | 59914251 |
| ENSE00003543899 | 59912373 | 59912418 |
| ENSE00003563454 | 59885928 | 59885964 |
| ENSE00003579797 | 59881437 | 59881492 |
| ENSE00003663459 | 59880966 | 59881023 |
| ENSE00003844795 | 59933569 | 59933637 |
Expression profiles
Bgee: expression breadth ubiquitous, 192 present calls, max score 92.98.
FANTOM5 (CAGE): breadth broad, TPM avg 1.9687 / max 121.4091, expressed in 416 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 188220 | 0.7740 | 293 |
| 188221 | 0.5464 | 270 |
| 188218 | 0.3072 | 48 |
| 188219 | 0.1392 | 75 |
| 188217 | 0.1126 | 58 |
| 188222 | 0.0892 | 41 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 92.98 | gold quality |
| oocyte | CL:0000023 | 92.28 | gold quality |
| left testis | UBERON:0004533 | 92.27 | gold quality |
| endometrium epithelium | UBERON:0004811 | 91.45 | gold quality |
| secondary oocyte | CL:0000655 | 90.89 | gold quality |
| testis | UBERON:0000473 | 90.58 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.88 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.39 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.72 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.90 | gold quality |
| cerebellar cortex | UBERON:0002129 | 85.35 | gold quality |
| cerebellum | UBERON:0002037 | 81.29 | gold quality |
| body of pancreas | UBERON:0001150 | 79.57 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.63 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 77.39 | gold quality |
| buccal mucosa cell | CL:0002336 | 77.21 | gold quality |
| tibial nerve | UBERON:0001323 | 75.80 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 75.68 | gold quality |
| calcaneal tendon | UBERON:0003701 | 75.50 | gold quality |
| metanephros cortex | UBERON:0010533 | 75.41 | gold quality |
| minor salivary gland | UBERON:0001830 | 75.04 | gold quality |
| body of stomach | UBERON:0001161 | 74.71 | gold quality |
| monocyte | CL:0000576 | 74.17 | gold quality |
| right lung | UBERON:0002167 | 74.17 | gold quality |
| sperm | CL:0000019 | 74.16 | silver quality |
| mononuclear cell | CL:0000842 | 73.67 | gold quality |
| leukocyte | CL:0000738 | 73.53 | gold quality |
| male germ cell | CL:0000015 | 73.21 | silver quality |
| stomach | UBERON:0000945 | 73.20 | gold quality |
| cingulate cortex | UBERON:0003027 | 73.20 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7249 | yes | 447.36 |
| E-ANND-3 | yes | 7.66 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting SYCP2, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-10393-5P | 99.65 | 68.01 | 1368 |
| HSA-MIR-451B | 99.55 | 68.28 | 1380 |
Literature-anchored findings (GeneRIF, showing 3)
- SYCP2 may contribute to genetic instability during HPV-associated cancer development (PMID:26334652)
- SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. (PMID:31866047)
- Novel Loss-of-Function SYCP2 Variants in Infertile Males Upgrade the Gene-Disease Clinical Validity Classification for SYCP2 and Male Infertility to Strong. (PMID:39202451)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sycp2 | ENSDARG00000088950 |
| mus_musculus | Sycp2 | ENSMUSG00000060445 |
| rattus_norvegicus | Sycp2 | ENSRNOG00000061690 |
Paralogs (1): SYCP2L (ENSG00000153157)
Protein
Protein identifiers
Synaptonemal complex protein 2 — Q9BX26 (reviewed: Q9BX26)
Alternative names: Synaptonemal complex lateral element protein
All UniProt accessions (4): A2A2M9, A2A340, A2A341, Q9BX26
UniProt curated annotations — full annotation on UniProt →
Function. Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase. Plays a role in the assembly of synaptonemal complexes. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility. Required for insertion of SYCP3 into synaptonemal complexes. May be involved in the organization of chromatin by temporarily binding to DNA scaffold attachment regions. Requires SYCP3, but not SYCP1, in order to be incorporated into the axial/lateral elements.
Subunit / interactions. Component of the lateral elements of synaptonemal complexes. Heterodimer with SYCP3. Interacts with SMC1A and SMC3. Interacts with TEX11.
Subcellular location. Nucleus. Chromosome.
Post-translational modifications. Phosphorylated.
Disease relevance. Spermatogenic failure 1 (SPGF1) [MIM:258150] An infertility disorder characterized by azoospermia due to spermatogenic arrest during meiosis. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n, but that are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules and degenerate. Both autosomal recessive and autosomal dominant inheritance have been reported. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the SYCP2 family.
RefSeq proteins (1): NP_055073* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR024835 | SYCP2-like | Family |
| IPR040560 | SYCP2_SLD | Domain |
| IPR041322 | SYCP2_ARLD | Domain |
Pfam: PF18581, PF18584
UniProt features (48 total): modified residue 24, compositionally biased region 7, region of interest 6, sequence conflict 6, sequence variant 4, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BX26-F1 | 54.36 | 0.25 |
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 (24): 457, 465, 471, 494, 519, 529, 538, 619, 660, 664, 936, 938, 1136, 1138, 1145, 1161, 1177, 1189, 1204, 1234 …
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-1221632 | Meiotic synapsis |
| R-HSA-1474165 | Reproduction |
| R-HSA-1500620 | Meiosis |
| R-HSA-1640170 | Cell Cycle |
MSigDB gene sets: 574 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_LIPID_MODIFICATION, GOBP_CHROMOSOME_ORGANIZATION, MODULE_52, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, REACTOME_MEIOTIC_SYNAPSIS, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_MALE_GENITALIA_DEVELOPMENT, GOBP_INOSITOL_PHOSPHATE_METABOLIC_PROCESS, GOBP_POLYOL_METABOLIC_PROCESS, GOBP_C21_STEROID_HORMONE_METABOLIC_PROCESS, GOBP_GROWTH, GOBP_REGULATION_OF_HORMONE_LEVELS
GO Biological Process (13): apoptotic process (GO:0006915), synaptonemal complex assembly (GO:0007130), male meiotic nuclear division (GO:0007140), female meiotic nuclear division (GO:0007143), fertilization (GO:0009566), ectopic germ cell programmed cell death (GO:0035234), negative regulation of apoptotic process (GO:0043066), male genitalia morphogenesis (GO:0048808), negative regulation of developmental process (GO:0051093), cell division (GO:0051301), negative regulation of reproductive process (GO:2000242), animal organ morphogenesis (GO:0009887), meiotic cell cycle (GO:0051321)
GO Molecular Function (1): DNA binding (GO:0003677)
GO Cellular Component (5): condensed chromosome, centromeric region (GO:0000779), synaptonemal complex (GO:0000795), lateral element (GO:0000800), nucleus (GO:0005634), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Meiosis | 1 |
| Reproduction | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| meiotic nuclear division | 3 |
| reproductive process | 3 |
| meiotic cell cycle | 2 |
| sexual reproduction | 2 |
| negative regulation of biological process | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| homologous chromosome pairing at meiosis | 1 |
| cellular component assembly | 1 |
| chromosome organization involved in meiotic cell cycle | 1 |
| synaptonemal complex organization | 1 |
| male gamete generation | 1 |
| female gamete generation | 1 |
| developmental process involved in reproduction | 1 |
| programmed cell death involved in cell development | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| male genitalia development | 1 |
| genitalia morphogenesis | 1 |
| male anatomical structure morphogenesis | 1 |
| developmental process | 1 |
| regulation of developmental process | 1 |
| cellular process | 1 |
| regulation of reproductive process | 1 |
| anatomical structure morphogenesis | 1 |
| animal organ development | 1 |
| cell cycle | 1 |
| nucleic acid binding | 1 |
| chromosome, centromeric region | 1 |
| condensed chromosome | 1 |
| synaptonemal structure | 1 |
| synaptonemal complex | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
790 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYCP2 | SYCP3 | Q8IZU3 | 989 |
| SYCP2 | SYCP1 | Q15431 | 983 |
| SYCP2 | TEX11 | Q8IYF3 | 961 |
| SYCP2 | ADARB1 | P78555 | 862 |
| SYCP2 | SYCE2 | Q6PIF2 | 817 |
| SYCP2 | SYCE1 | Q8N0S2 | 810 |
| SYCP2 | TEX12 | Q9BXU0 | 809 |
| SYCP2 | SYCE3 | A1L190 | 796 |
| SYCP2 | HORMAD1 | Q86X24 | 754 |
| SYCP2 | STAG3 | Q9UJ98 | 716 |
| SYCP2 | HORMAD2 | Q8N7B1 | 689 |
| SYCP2 | RAD21L1 | Q9H4I0 | 612 |
| SYCP2 | REC8 | O95072 | 598 |
| SYCP2 | SPO11 | Q9Y5K1 | 584 |
| SYCP2 | SMC1B | Q8NDV3 | 583 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PAK4 | SNRPE | psi-mi:“MI:0914”(association) | 0.350 |
| MPO | psi-mi:“MI:0914”(association) | 0.350 | |
| SYCP2 | ligA | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (9): SYCP2 (Biochemical Activity), HORMAD2 (Two-hybrid), HORMAD2 (Reconstituted Complex), SYCP3 (Two-hybrid), SYCP2 (Cross-Linking-MS (XL-MS)), SYCP2 (Cross-Linking-MS (XL-MS)), SYCP2 (Proximity Label-MS), SYCP2 (Cross-Linking-MS (XL-MS)), SYCP2 (Affinity Capture-RNA)
ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A1L2Y1, A2ALV5, A9JRX0, B2GUZ2, D3ZSP7, F1QB81, O35892, O70608, O75113, P23497, P70347, Q0P5X5, Q13129, Q16533, Q2T9I9, Q3U1D0, Q5CZC0, Q5H9M0, Q5REF4, Q5RHB5, Q5SW75, Q5T4T6, Q5T5J6, Q5XG69, Q5ZLE9, Q60664, Q63HN8, Q7M6U3, Q7Z4H7, Q80VH0, Q8BVK9, Q8C263, Q8CCC3, Q8NA03, Q90WN7, Q92844, Q96QP1
Diamond homologs: A0A0M3U1B0, O70608, Q5T4T6, Q90WN7, Q9BX26, Q9CUU3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SYCP2 | “form complex” | Synaptonemal_complex | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
239 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 3 |
| Uncertain significance | 176 |
| Likely benign | 18 |
| Benign | 9 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2690968 | NM_014258.4(SYCP2):c.600-1G>A | Likely pathogenic |
| 3065112 | NM_014258.4(SYCP2):c.513+1G>T | Likely pathogenic |
| 3256632 | NM_014258.4(SYCP2):c.1593_1594del (p.Asn531fs) | Likely pathogenic |
SpliceAI
6723 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:59865382:ACTT:A | donor_loss | 1.0000 |
| 20:59865383:CTTA:C | donor_loss | 1.0000 |
| 20:59865384:TTA:T | donor_loss | 1.0000 |
| 20:59865385:TA:T | donor_loss | 1.0000 |
| 20:59865386:A:AC | donor_gain | 1.0000 |
| 20:59865386:AC:A | donor_gain | 1.0000 |
| 20:59865386:ACCAT:A | donor_loss | 1.0000 |
| 20:59865387:C:CA | donor_gain | 1.0000 |
| 20:59865387:C:G | donor_loss | 1.0000 |
| 20:59865387:CC:C | donor_gain | 1.0000 |
| 20:59865387:CCA:C | donor_gain | 1.0000 |
| 20:59865387:CCAT:C | donor_gain | 1.0000 |
| 20:59865387:CCATG:C | donor_gain | 1.0000 |
| 20:59865440:CACAT:C | acceptor_gain | 1.0000 |
| 20:59865441:ACAT:A | acceptor_gain | 1.0000 |
| 20:59865442:CAT:C | acceptor_gain | 1.0000 |
| 20:59865442:CATC:C | acceptor_gain | 1.0000 |
| 20:59865443:AT:A | acceptor_gain | 1.0000 |
| 20:59865443:ATCT:A | acceptor_loss | 1.0000 |
| 20:59865444:TCTG:T | acceptor_loss | 1.0000 |
| 20:59865445:C:CC | acceptor_gain | 1.0000 |
| 20:59865445:C:CG | acceptor_loss | 1.0000 |
| 20:59865447:G:C | acceptor_gain | 1.0000 |
| 20:59865455:G:C | acceptor_gain | 1.0000 |
| 20:59866296:AAATT:A | donor_gain | 1.0000 |
| 20:59866298:ATT:A | donor_gain | 1.0000 |
| 20:59866300:T:TA | donor_gain | 1.0000 |
| 20:59866497:AGAGT:A | donor_gain | 1.0000 |
| 20:59867709:A:AC | donor_gain | 1.0000 |
| 20:59867710:C:CC | donor_gain | 1.0000 |
AlphaMissense
10266 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:59914171:A:G | W239R | 0.996 |
| 20:59914171:A:T | W239R | 0.996 |
| 20:59911809:A:G | W305R | 0.993 |
| 20:59911809:A:T | W305R | 0.993 |
| 20:59914019:C:A | R262S | 0.992 |
| 20:59914019:C:G | R262S | 0.992 |
| 20:59914115:A:C | F257L | 0.992 |
| 20:59914115:A:T | F257L | 0.992 |
| 20:59914117:A:G | F257L | 0.992 |
| 20:59901789:A:G | L352P | 0.991 |
| 20:59912400:A:C | C283W | 0.991 |
| 20:59912402:A:G | C283R | 0.989 |
| 20:59914020:C:G | R262T | 0.988 |
| 20:59914166:A:C | F240L | 0.988 |
| 20:59914166:A:T | F240L | 0.988 |
| 20:59914168:A:G | F240L | 0.988 |
| 20:59914222:C:G | A222P | 0.988 |
| 20:59907415:A:G | W328R | 0.987 |
| 20:59907415:A:T | W328R | 0.987 |
| 20:59921320:A:G | L53P | 0.987 |
| 20:59911844:A:G | L293P | 0.986 |
| 20:59912410:G:T | T280K | 0.985 |
| 20:59914011:A:G | L265P | 0.985 |
| 20:59914020:C:A | R262M | 0.985 |
| 20:59914167:A:G | F240S | 0.985 |
| 20:59914190:T:A | R232S | 0.985 |
| 20:59914190:T:G | R232S | 0.985 |
| 20:59911795:A:C | N309K | 0.984 |
| 20:59911795:A:T | N309K | 0.984 |
| 20:59911810:A:C | F304L | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000008150 (20:59880791 T>C), RS1000037253 (20:59888000 T>C), RS1000076332 (20:59874440 C>G,T), RS1000122898 (20:59890201 T>C), RS1000155372 (20:59890094 G>A), RS1000207664 (20:59923440 T>C), RS1000248144 (20:59933179 G>A), RS1000255316 (20:59896080 A>G), RS1000296092 (20:59933296 C>T), RS1000331630 (20:59885312 G>A), RS1000359834 (20:59868709 CTAGTT>C), RS1000362118 (20:59926110 T>G), RS1000375156 (20:59925811 T>C), RS1000416640 (20:59902337 A>C), RS1000518312 (20:59912969 T>C)
Disease associations
OMIM: gene MIM:604105 | disease phenotypes: MIM:258150
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 1 | Strong | Autosomal dominant |
Mondo (2): prostate cancer (MONDO:0008315), spermatogenic failure 1 (MONDO:0009776)
Orphanet (2): Familial prostate cancer (Orphanet:1331), Male infertility with azoospermia or oligozoospermia due to single gene mutation (Orphanet:399805)
HPO phenotypes
22 total (22 of 22 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000027 | Azoospermia |
| HP:0000365 | Hearing impairment |
| HP:0000473 | Torticollis |
| HP:0000514 | Slow saccadic eye movements |
| HP:0000798 | Oligozoospermia |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0001332 | Dystonia |
| HP:0002080 | Intention tremor |
| HP:0002346 | Head tremor |
| HP:0002352 | Leukoencephalopathy |
| HP:0002495 | Impaired vibratory sensation |
| HP:0003251 | Male infertility |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0003621 | Juvenile onset |
| HP:0004409 | Hyposmia |
| HP:0009830 | Peripheral neuropathy |
| HP:0011462 | Young adult onset |
| HP:0012692 | Focal T2 hyperintense thalamic lesion |
| HP:0030974 | Cryptozoospermia |
| HP:0034721 | Elevated circulating pristanic acid concentration |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005851_8 | Delirium | 5.000000e-07 |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| C562902 | Oligosynaptic Infertility (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| Esketamine | increases expression | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| aminomethylphosphonic acid (AMPA) | increases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| cypermethrin | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| testosterone-3-carboxymethyloxime-bovine serum albumin conjugate | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| clothianidin | decreases expression | 1 |
| abrine | decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases 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 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Glyphosate | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Curcumin | increases expression | 1 |
| Methylcholanthrene | affects binding, increases reaction, increases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Thimerosal | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Particulate Matter | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Associated diseases: spermatogenic failure 1
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): delirium, prostate cancer, spermatogenic failure 1