ZSWIM7
geneOn this page
Also known as SWS1
Summary
ZSWIM7 (zinc finger SWIM-type containing 7, HGNC:26993) is a protein-coding gene on chromosome 17p12, encoding Zinc finger SWIM domain-containing protein 7 (Q19AV6). Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents.
Predicted to enable zinc ion binding activity. Involved in double-strand break repair via homologous recombination and protein stabilization. Part of Shu complex. Implicated in ovarian dysgenesis 10 and spermatogenic failure 71.
Source: NCBI Gene 125150 — RefSeq curated summary.
At a glance
- Gene–disease (curated): ovarian dysgenesis 10 (Strong, GenCC) — +2 more curated relationships
- GWAS associations: 1
- Clinical variants (ClinVar): 35 total — 2 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 39
- MANE Select transcript:
NM_001042697
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26993 |
| Approved symbol | ZSWIM7 |
| Name | zinc finger SWIM-type containing 7 |
| Location | 17p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SWS1 |
| Ensembl gene | ENSG00000214941 |
| Ensembl biotype | protein_coding |
| OMIM | 614535 |
| Entrez | 125150 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 10 nonsense_mediated_decay, 9 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000399277, ENST00000399280, ENST00000460252, ENST00000460315, ENST00000472495, ENST00000474716, ENST00000475498, ENST00000476496, ENST00000486655, ENST00000486706, ENST00000490395, ENST00000491631, ENST00000495825, ENST00000497434, ENST00000497719, ENST00000579955, ENST00000584519, ENST00000585208, ENST00000888428, ENST00000888429, ENST00000888430, ENST00000922667, ENST00000946547, ENST00000946548
RefSeq mRNA: 2 — MANE Select: NM_001042697
NM_001042697, NM_001042698
CCDS: CCDS42266
Canonical transcript exons
ENST00000399277 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001537338 | 15999519 | 15999704 |
| ENSE00003508283 | 15976560 | 15978163 |
| ENSE00003549628 | 15981040 | 15981144 |
| ENSE00003618108 | 15987266 | 15987368 |
| ENSE00003627730 | 15993757 | 15993778 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 95.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.6477 / max 250.2296, expressed in 1815 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164709 | 12.0710 | 1790 |
| 164710 | 11.3898 | 1782 |
| 164708 | 1.1868 | 742 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 95.86 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.14 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.74 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.66 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.62 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.62 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.57 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.49 | gold quality |
| muscle of leg | UBERON:0001383 | 93.30 | gold quality |
| monocyte | CL:0000576 | 92.96 | gold quality |
| leukocyte | CL:0000738 | 92.85 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.73 | gold quality |
| oocyte | CL:0000023 | 92.71 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.69 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.66 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.60 | gold quality |
| adrenal cortex | UBERON:0001235 | 92.59 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.57 | gold quality |
| tibialis anterior | UBERON:0001385 | 92.56 | silver quality |
| hypothalamus | UBERON:0001898 | 92.53 | gold quality |
| left ovary | UBERON:0002119 | 92.53 | gold quality |
| body of pancreas | UBERON:0001150 | 92.44 | gold quality |
| adrenal gland | UBERON:0002369 | 92.35 | gold quality |
| right ovary | UBERON:0002118 | 92.22 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.95 | gold quality |
| spinal cord | UBERON:0002240 | 91.92 | gold quality |
| amygdala | UBERON:0001876 | 91.91 | gold quality |
| apex of heart | UBERON:0002098 | 91.89 | gold quality |
| pituitary gland | UBERON:0000007 | 91.80 | gold quality |
| granulocyte | CL:0000094 | 91.79 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
43 targeting ZSWIM7, 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-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-3923 | 99.52 | 69.21 | 446 |
| HSA-MIR-4325 | 99.49 | 72.20 | 1342 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-4728-3P | 99.47 | 68.94 | 981 |
| HSA-MIR-578 | 99.46 | 68.36 | 1787 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-324-3P | 99.26 | 66.31 | 1034 |
| HSA-MIR-4727-5P | 99.23 | 67.55 | 1154 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-371A-5P | 99.08 | 66.51 | 1914 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-452-3P | 99.01 | 66.25 | 1241 |
| HSA-MIR-367-5P | 98.84 | 67.18 | 902 |
Literature-anchored findings (GeneRIF, showing 5)
- A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination. (PMID:33713115)
- ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency. (PMID:34402903)
- Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency. (PMID:35218660)
- A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females. (PMID:36202298)
- The human Shu complex promotes RAD51 activity by modulating RPA dynamics on ssDNA. (PMID:39169038)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zswim7 | ENSDARG00000067608 |
| mus_musculus | Zswim7 | ENSMUSG00000014243 |
| rattus_norvegicus | Zswim7 | ENSRNOG00000002970 |
Protein
Protein identifiers
Zinc finger SWIM domain-containing protein 7 — Q19AV6 (reviewed: Q19AV6)
Alternative names: SWIM domain-containing and Srs2-interacting protein 1 homolog, SWIM-type zinc finger domain-containing protein 7
All UniProt accessions (7): J3KRY0, J3QL97, J3QLK2, J3QRT4, J3QS07, J3QS31, Q19AV6
UniProt curated annotations — full annotation on UniProt →
Function. Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Required for meiotic progression, hence for fertility.
Subunit / interactions. Interacts with RAD51D and XRCC3; involved in homologous recombination repair. Interacts with SWSAP1; they form a functional complex involved in homologous recombination repair and stabilize each other.
Subcellular location. Nucleus.
Tissue specificity. Expressed in ovary and testis.
Disease relevance. Ovarian dysgenesis 10 (ODG10) [MIM:619834] An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. The disease is caused by variants affecting the gene represented in this entry. Spermatogenic failure 71 (SPGF71) [MIM:619831] An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the SWS1 family.
RefSeq proteins (2): NP_001036162, NP_001036163 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007527 | Znf_SWIM | Domain |
Pfam: PF04434
UniProt features (3 total): chain 1, zinc finger region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q19AV6-F1 | 92.13 | 0.87 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 148 (showing top):
chr17p12, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_PROTEIN_STABILIZATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_RECOMBINATIONAL_REPAIR, GOBP_DNA_METABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, GOBP_DNA_REPAIR, THUM_SYSTOLIC_HEART_FAILURE_DN, GOBP_DNA_RECOMBINATION, YOSHIMURA_MAPK8_TARGETS_UP, PANGAS_TUMOR_SUPPRESSION_BY_SMAD1_AND_SMAD5_DN, TURASHVILI_BREAST_NORMAL_DUCTAL_VS_LOBULAR_UP, PILON_KLF1_TARGETS_UP
GO Biological Process (5): double-strand break repair via homologous recombination (GO:0000724), protein stabilization (GO:0050821), DNA repair (GO:0006281), DNA recombination (GO:0006310), DNA damage response (GO:0006974)
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), Shu complex (GO:0097196)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 2 |
| recombinational repair | 1 |
| double-strand break repair | 1 |
| regulation of protein stability | 1 |
| DNA damage response | 1 |
| cellular response to stress | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
486 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZSWIM7 | SWSAP1 | Q6NVH7 | 749 |
| ZSWIM7 | TTC19 | Q6DKK2 | 530 |
| ZSWIM7 | ELOF1 | P60002 | 528 |
| ZSWIM7 | MAGEE2 | Q8TD90 | 497 |
| ZSWIM7 | MRPL51 | Q4U2R6 | 493 |
| ZSWIM7 | MICOS10 | Q5TGZ0 | 464 |
| ZSWIM7 | ZNF827 | Q17R98 | 446 |
| ZSWIM7 | TERB1 | Q8NA31 | 438 |
| ZSWIM7 | FBXO38 | Q6PIJ6 | 427 |
| ZSWIM7 | LRRC37A2 | A6NM11 | 419 |
| ZSWIM7 | MRPL48 | Q96GC5 | 416 |
| ZSWIM7 | TIMM8B | Q9Y5J9 | 409 |
| ZSWIM7 | TAPT1 | Q6NXT6 | 393 |
| ZSWIM7 | SAP30BP | Q9UHR5 | 383 |
| ZSWIM7 | KANSL1 | Q7Z3B3 | 369 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZSWIM7 | SWSAP1 | psi-mi:“MI:0915”(physical association) | 0.900 |
| SWSAP1 | ZSWIM7 | psi-mi:“MI:0915”(physical association) | 0.900 |
| SWSAP1 | SPIDR | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZSWIM7 | SPIDR | psi-mi:“MI:0915”(physical association) | 0.660 |
| SPIDR | ZSWIM7 | psi-mi:“MI:0915”(physical association) | 0.660 |
| UQCRB | ZSWIM7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SWSAP1 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| PLA2G10 | CHEK1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZSWIM7 | PDS5B | psi-mi:“MI:0915”(physical association) | 0.470 |
| ZSWIM7 | RAD51D | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZSWIM7 | XRCC3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZSWIM7 | RAC3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (27): SWSAP1 (Two-hybrid), ZSWIM7 (Affinity Capture-MS), ZSWIM7 (Affinity Capture-MS), ZSWIM7 (Two-hybrid), SWSAP1 (Two-hybrid), ZSWIM7 (Affinity Capture-RNA), ZSWIM7 (Two-hybrid), ZSWIM7 (Two-hybrid), ZSWIM7 (Affinity Capture-MS), RAC3 (Affinity Capture-MS), HSPA1A (Affinity Capture-MS), ZSWIM7 (Affinity Capture-MS), SPIDR (Affinity Capture-MS), ZSWIM7 (Affinity Capture-MS), ZSWIM7 (Affinity Capture-MS)
ESM2 similar proteins: A2A825, A4FVI0, E1C6Q1, E9PTA2, O15315, O35719, O43502, O54804, O95059, O95803, P22339, P47802, Q01134, Q19AV6, Q33DR3, Q3U129, Q3U2J5, Q3UFY7, Q3ZBL5, Q4R7M4, Q5BIM1, Q5PPH0, Q5R812, Q5RB79, Q5VYX0, Q5ZJB7, Q6DC64, Q6GV29, Q6P4H8, Q7Z624, Q80ZQ9, Q86YH6, Q8CIW5, Q8NBA8, Q8R1C6, Q8R2J9, Q91YD4, Q924H5, Q96IK5, Q96RR1
Diamond homologs: A4FVI0, Q19AV6, Q55FI7, Q9CWQ2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZSWIM7 | “form complex” | “SHU complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
35 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 2 |
| Uncertain significance | 19 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1676297 | NM_001042697.2(ZSWIM7):c.201+1G>T | Pathogenic |
| 1676582 | NM_001042697.2(ZSWIM7):c.173C>G (p.Ser58Ter) | Pathogenic |
| 1013608 | NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs) | Likely pathogenic |
| 1699948 | NM_001042697.2(ZSWIM7):c.176C>T (p.Ser59Leu) | Likely pathogenic |
SpliceAI
1221 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:15987368:CCTGT:C | acceptor_loss | 1.0000 |
| 17:15987369:C:CG | acceptor_loss | 1.0000 |
| 17:15987370:T:A | acceptor_loss | 1.0000 |
| 17:15993779:C:CC | acceptor_gain | 1.0000 |
| 17:15999517:A:AC | donor_gain | 1.0000 |
| 17:15999518:C:CC | donor_gain | 1.0000 |
| 17:15999520:T:TA | donor_gain | 1.0000 |
| 17:15999530:T:A | donor_gain | 1.0000 |
| 17:15978164:C:CC | acceptor_gain | 0.9900 |
| 17:15980996:TCTC:T | donor_gain | 0.9900 |
| 17:15981009:C:CT | donor_gain | 0.9900 |
| 17:15981010:T:TT | donor_gain | 0.9900 |
| 17:15987260:TTCTA:T | donor_loss | 0.9900 |
| 17:15987261:TCTA:T | donor_loss | 0.9900 |
| 17:15987262:CTAC:C | donor_loss | 0.9900 |
| 17:15987263:TAC:T | donor_loss | 0.9900 |
| 17:15987264:A:AG | donor_loss | 0.9900 |
| 17:15987265:C:CT | donor_loss | 0.9900 |
| 17:15987266:C:G | donor_loss | 0.9900 |
| 17:15987281:T:TA | donor_gain | 0.9900 |
| 17:15987369:C:CC | acceptor_gain | 0.9900 |
| 17:15993755:A:AC | donor_gain | 0.9900 |
| 17:15993756:C:CC | donor_gain | 0.9900 |
| 17:15999518:CTT:C | donor_gain | 0.9900 |
| 17:15999518:CTTCG:C | donor_gain | 0.9900 |
| 17:15978160:TGCA:T | acceptor_gain | 0.9800 |
| 17:15978162:CA:C | acceptor_gain | 0.9800 |
| 17:15980998:TC:T | donor_gain | 0.9800 |
| 17:15981028:C:A | donor_gain | 0.9800 |
| 17:15987365:CAGC:C | acceptor_gain | 0.9800 |
AlphaMissense
890 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:15981076:A:C | F90L | 0.994 |
| 17:15981076:A:T | F90L | 0.994 |
| 17:15981078:A:G | F90L | 0.994 |
| 17:15978155:A:C | H105Q | 0.984 |
| 17:15978155:A:T | H105Q | 0.984 |
| 17:15978158:C:A | K104N | 0.984 |
| 17:15978158:C:G | K104N | 0.984 |
| 17:15978147:G:T | A108E | 0.982 |
| 17:15981070:G:C | F92L | 0.979 |
| 17:15981070:G:T | F92L | 0.979 |
| 17:15981072:A:G | F92L | 0.979 |
| 17:15978157:G:C | H105D | 0.977 |
| 17:15987321:A:T | V49D | 0.975 |
| 17:15978162:C:G | C103S | 0.974 |
| 17:15978163:A:T | C103S | 0.974 |
| 17:15981087:A:G | C87R | 0.974 |
| 17:15978163:A:G | C103R | 0.970 |
| 17:15978162:C:T | C103Y | 0.969 |
| 17:15987324:A:G | L48P | 0.966 |
| 17:15981078:A:T | F90I | 0.965 |
| 17:15981091:A:C | C85W | 0.964 |
| 17:15987333:G:T | A45D | 0.963 |
| 17:15978159:T:A | K104M | 0.962 |
| 17:15981086:C:T | C87Y | 0.961 |
| 17:15987334:C:G | A45P | 0.960 |
| 17:15987271:A:C | Y66D | 0.958 |
| 17:15978161:G:C | C103W | 0.957 |
| 17:15981085:A:C | C87W | 0.957 |
| 17:15978150:A:G | L107S | 0.956 |
| 17:15981077:A:G | F90S | 0.956 |
dbSNP variants (sampled 300 via entrez): RS1000040309 (17:15977575 G>A,T), RS1000090536 (17:15977463 G>T), RS1000202409 (17:15996307 A>C), RS1000292514 (17:15983457 C>T), RS1000762011 (17:15992088 G>A,C), RS1000801482 (17:15994812 T>C), RS1000848241 (17:15995624 G>A,C), RS1000897881 (17:15982237 T>C), RS1000944190 (17:15989072 T>C), RS1000954043 (17:15989326 T>C), RS1000967598 (17:16000758 C>T), RS1001040737 (17:15976287 A>C), RS1001119722 (17:15982319 C>T), RS1001234266 (17:15982619 G>GTTA), RS1001278497 (17:15989257 G>T)
Disease associations
OMIM: gene MIM:614535 | disease phenotypes: MIM:619834, MIM:619831
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| ovarian dysgenesis 10 | Strong | Autosomal recessive |
| male infertility with azoospermia or oligozoospermia due to single gene mutation | Strong | Autosomal recessive |
| colorectal adenoma | Limited | Unknown |
Mondo (5): ovarian dysgenesis 10 (MONDO:0030736), spermatogenic failure 71 (MONDO:0030787), infertility disorder (MONDO:0005047), colorectal adenoma (MONDO:0005484), (MONDO:0018393)
Orphanet (0):
HPO phenotypes
39 total (30 of 39 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000027 | Azoospermia |
| HP:0000062 | Ambiguous genitalia |
| HP:0000118 | Phenotypic abnormality |
| HP:0000133 | Gonadal dysgenesis |
| HP:0000144 | Decreased fertility |
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000786 | Primary amenorrhea |
| HP:0000823 | Delayed puberty |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0000869 | Secondary amenorrhea |
| HP:0000938 | Osteopenia |
| HP:0001166 | Arachnodactyly |
| HP:0001251 | Ataxia |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0002206 | Pulmonary fibrosis |
| HP:0002225 | Sparse pubic hair |
| HP:0002750 | Delayed skeletal maturation |
| HP:0003251 | Male infertility |
| HP:0003621 | Juvenile onset |
| HP:0004322 | Short stature |
| HP:0004349 | Reduced bone mineral density |
| HP:0005625 | Osteoporosis of vertebrae |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0008214 | Decreased serum estradiol |
| HP:0008232 | Elevated circulating follicle stimulating hormone level |
| HP:0008669 | Abnormal spermatogenesis |
| HP:0008684 | Aplasia/hypoplasia of the uterus |
| HP:0008724 | Hypoplasia of the ovary |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002587_29 | Blood pressure (smoking interaction) | 3.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0006526 | pack-years measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007246 | Infertility | C12.100.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression | 2 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| bisphenol A | decreases methylation | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Demecolcine | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
243 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01767870 | PHASE4 | UNKNOWN | Efficacy Combined Fecal Immunochemical Test-Sigmoidoscopy for the Detection of Advanced Colorectal Neoplasia |
| NCT07167342 | PHASE4 | RECRUITING | The Effect of Oral Clostridium Butyricum on the Recurrence After Colonoscopic Resection of Colorectal Adenoma |
| NCT01388907 | PHASE4 | COMPLETED | Efficacity Assessment of PREVADH® in Adhesion Prevention in Gynaecologic Surgery |
| NCT01430650 | PHASE4 | COMPLETED | Endometrial Priming for Embryo Transfer |
| NCT02607319 | PHASE4 | COMPLETED | Low Molecular Weight Heparin to Improve Pregnancy Outcome in Patients With Recurrent Implantation Failure |
| NCT03169166 | PHASE4 | COMPLETED | The Use of GnRH Agonist Trigger for Final Follicle Maturation in Women Undergoing Assisted Reproductive Technologies |
| NCT03177122 | PHASE4 | UNKNOWN | Myo-Inositol- Based Co-treatment in Women With PCOS Undergoing Assisted Reproductive Technology |
| NCT03477929 | PHASE4 | UNKNOWN | Cetrorelix and Ganirelix Flexible Protocol for (IVF) |
| NCT03619707 | PHASE4 | COMPLETED | Oral Versus Vaginal Progesterone in the Luteal Support in Cryo-warmed Embryo Transfer Cycles |
| NCT03846544 | PHASE4 | COMPLETED | Double Pick up in Poor Prognosis Women |
| NCT05725512 | PHASE4 | RECRUITING | Prednisolone Administration in Patients With Unexplained REcurrent MIscarriages |
| NCT06195163 | PHASE4 | NOT_YET_RECRUITING | TRAP Study: Testosterone for Androgen Receptor Polymorphism |
| NCT06763926 | PHASE4 | NOT_YET_RECRUITING | Intranasal Nafarelin For Triggering Oocyte Maturation |
| NCT00141193 | PHASE3 | COMPLETED | Prevention of Colorectal Sporadic Adenomatous Polyps (PRESAP) |
| NCT00282386 | PHASE3 | COMPLETED | A Study to Evaluate the Effect of MK0966 (Rofecoxib) on the Recurrence of Colorectal Adenomas (0966-122) |
| NCT01437826 | PHASE3 | TERMINATED | Antioxidant Supplement and Reduction of Metachronous Adenomas of the Large Bowel: a Double Blind Randomized Trial |
| NCT07505056 | PHASE3 | NOT_YET_RECRUITING | Jianpi Lishi Jiedu Granules for Prevention of Postoperative Recurrence in Colorectal Advanced Adenomas |
| NCT00749853 | PHASE3 | SUSPENDED | Efficacy of Ovarian Stimulation Based on FSHR Genotype Status |
| NCT03238092 | PHASE3 | UNKNOWN | Comparison Between Testosterone and Estradiol Over the Homogenization of Follicular Cohort |
| NCT03803228 | PHASE3 | COMPLETED | Dual Ovarian Stimulation (DUOSTIM) for Poor Ovarian Responders |
| NCT00582660 | PHASE2 | COMPLETED | Evaluation of Surgically Resected Colorectal Adenomas and Carcinomas After 7 Days Pretreatment With Celecoxib |
| NCT02134925 | PHASE2 | ACTIVE_NOT_RECRUITING | Vaccine Therapy in Treating Patients With Newly Diagnosed Advanced Colon Polyps |
| NCT02965703 | PHASE2 | ACTIVE_NOT_RECRUITING | Aspirin in Preventing Colorectal Cancer in Patients With Colorectal Adenoma |
| NCT03796884 | PHASE2 | ACTIVE_NOT_RECRUITING | Linaclotide in Treating Patients With Stages 0-3 Colorectal Cancer |
| NCT05402124 | PHASE2 | UNKNOWN | The Colorectal Cancer Chemoprevention Acceleration and Improvement Platform (CRC-CHAMP) Study |
| NCT06205862 | PHASE2 | RECRUITING | Efficacy and Safety of Fecal Microbiota Transplantation (FMT) in Reducing Recurrence of Colorectal Adenoma (CRA) |
| NCT06612281 | PHASE2 | RECRUITING | Evaluation of Gixam’s Performance in a FIT Negative Population |
| NCT06722950 | PHASE2 | NOT_YET_RECRUITING | Phase II Clinical Study of AC591 in Preventing Oxaliplatin-Induced Peripheral Neuropathy |
| NCT04701034 | PHASE2 | COMPLETED | Intravenous Immunoglobulin and Prednisolone for RPL After ART. |
| NCT04850261 | PHASE2 | WITHDRAWN | Injection Free IVF |
| NCT06997900 | PHASE2 | RECRUITING | Menopur And Rekovelle Combination Study Version 2.0 |
| NCT00298545 | PHASE1 | COMPLETED | Effect of Vitamin D and Calcium on Genes in the Colon |
| NCT04952129 | PHASE1 | COMPLETED | Optimal Selenium for Bowel Polyps (OSCAR) |
| NCT07095517 | PHASE1 | RECRUITING | Pathways, Risk Factors, and mOleculeS to Prevent Early-onset Colorectal Tumors |
| NCT02143505 | PHASE2/PHASE3 | UNKNOWN | Study of Calcium Plus Vitamin D Supplementation in Prevention of Colorectal Adenomas Recurrence |
| NCT02226185 | PHASE2/PHASE3 | COMPLETED | Study of Berberine Hydrochloride in Prevention of Colorectal Adenomas Recurrence |
| NCT03281096 | PHASE2/PHASE3 | COMPLETED | A Research of Berberine Hydrochloride to Prevent Colorectal Adenomas in Patients With Previous Colorectal Cancer |
| NCT03333265 | PHASE2/PHASE3 | COMPLETED | Primary Chemoprevention of Familial Adenomatous Polyposis With Berberine Hydrochloride |
| NCT04216251 | PHASE1/PHASE2 | COMPLETED | PRevention Using EPA Against coloREctal Cancer |
| NCT00339950 | Not specified | COMPLETED | Colorectal Neoplasia Screening w Colonoscopy in Asymptomatic Women at Regional Navy/Army Medical Ctrs: The CONCeRN Trial |
Related Atlas pages
- Associated diseases: colorectal adenoma, ovarian dysgenesis 10
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): colorectal adenoma, infertility disorder, ovarian dysgenesis 10, spermatogenic failure 71