CEP112
gene geneOn this page
Also known as MGC33887
Summary
CEP112 (centrosomal protein 112, HGNC:28514) is a protein-coding gene on chromosome 17q24.1, encoding Centrosomal protein of 112 kDa (Q8N8E3). Recruits mRNAs essential for sperm development, such as CFAP61 and FSIP2 mRNAs, into phase-separated condensates, thereby regulating their translation through a mechanism of liquid-liquid phase separation.
This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 201134 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 44 (Limited, GenCC)
- GWAS associations: 16
- Clinical variants (ClinVar): 166 total — 2 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 6
- MANE Select transcript:
NM_001199165
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28514 |
| Approved symbol | CEP112 |
| Name | centrosomal protein 112 |
| Location | 17q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC33887 |
| Ensembl gene | ENSG00000154240 |
| Ensembl biotype | protein_coding |
| OMIM | 618980 |
| Entrez | 201134 |
Gene structure
Transcript identifiers
Ensembl transcripts: 49 — 29 protein_coding, 12 protein_coding_CDS_not_defined, 5 nonsense_mediated_decay, 3 retained_intron
ENST00000317442, ENST00000392769, ENST00000535342, ENST00000537949, ENST00000577322, ENST00000578878, ENST00000578971, ENST00000580482, ENST00000580624, ENST00000580694, ENST00000581734, ENST00000581739, ENST00000582760, ENST00000582795, ENST00000582861, ENST00000583358, ENST00000583466, ENST00000584627, ENST00000584987, ENST00000585168, ENST00000706790, ENST00000706791, ENST00000706792, ENST00000706793, ENST00000706794, ENST00000706795, ENST00000706796, ENST00000706797, ENST00000706798, ENST00000706799, ENST00000859223, ENST00000859224, ENST00000859225, ENST00000859226, ENST00000859227, ENST00000859228, ENST00000932262, ENST00000932263, ENST00000932264, ENST00000952577, ENST00000952578, ENST00000952579, ENST00000952580, ENST00000952581, ENST00000952582, ENST00000952583, ENST00000952584, ENST00000952585, ENST00000952586
RefSeq mRNA: 6 — MANE Select: NM_001199165
NM_001037325, NM_001199165, NM_001302891, NM_001353127, NM_001353128, NM_001353129
CCDS: CCDS32710, CCDS32711, CCDS77093
Canonical transcript exons
ENST00000535342 — 27 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001014802 | 65961463 | 65961598 |
| ENSE00001014805 | 66005690 | 66005769 |
| ENSE00001014806 | 66028313 | 66028405 |
| ENSE00001014809 | 66029123 | 66029252 |
| ENSE00001014811 | 66029869 | 66030023 |
| ENSE00001178274 | 66027501 | 66027560 |
| ENSE00001468049 | 66069915 | 66070001 |
| ENSE00001468051 | 66096251 | 66096328 |
| ENSE00001468053 | 66096585 | 66096632 |
| ENSE00001468056 | 66129746 | 66129823 |
| ENSE00001468057 | 66132670 | 66132763 |
| ENSE00001468060 | 66175044 | 66175216 |
| ENSE00001468063 | 66176830 | 66177020 |
| ENSE00002210852 | 66191997 | 66192133 |
| ENSE00002261805 | 65635537 | 65635974 |
| ENSE00003462498 | 66183194 | 66183307 |
| ENSE00003480971 | 65640964 | 65641065 |
| ENSE00003492907 | 65743068 | 65743217 |
| ENSE00003505351 | 66066778 | 66066877 |
| ENSE00003535591 | 66062963 | 66063081 |
| ENSE00003612875 | 65750662 | 65750724 |
| ENSE00003614695 | 65851804 | 65852034 |
| ENSE00003616434 | 65927582 | 65927689 |
| ENSE00003618823 | 66053736 | 66053879 |
| ENSE00003630870 | 65637124 | 65637188 |
| ENSE00003679213 | 65902152 | 65902334 |
| ENSE00003689751 | 65689129 | 65689218 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 98.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4425 / max 181.8984, expressed in 1291 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 167653 | 3.8412 | 1131 |
| 167654 | 0.7746 | 402 |
| 167652 | 0.7711 | 390 |
| 167648 | 0.0473 | 3 |
| 167649 | 0.0082 | 3 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.58 | gold quality |
| left testis | UBERON:0004533 | 96.78 | gold quality |
| right testis | UBERON:0004534 | 96.59 | gold quality |
| male germ cell | CL:0000015 | 95.81 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.30 | gold quality |
| testis | UBERON:0000473 | 94.88 | gold quality |
| sural nerve | UBERON:0015488 | 92.38 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.63 | gold quality |
| tendon | UBERON:0000043 | 90.12 | gold quality |
| ventricular zone | UBERON:0003053 | 89.04 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.63 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.84 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.49 | gold quality |
| omental fat pad | UBERON:0010414 | 85.42 | gold quality |
| peritoneum | UBERON:0002358 | 85.35 | gold quality |
| tibial nerve | UBERON:0001323 | 85.18 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 84.83 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 84.74 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.60 | gold quality |
| lower esophagus | UBERON:0013473 | 84.57 | gold quality |
| adenohypophysis | UBERON:0002196 | 84.34 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 84.29 | gold quality |
| mucosa of stomach | UBERON:0001199 | 83.49 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 83.10 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 83.03 | gold quality |
| adipose tissue | UBERON:0001013 | 83.00 | gold quality |
| muscle of leg | UBERON:0001383 | 82.96 | gold quality |
| pituitary gland | UBERON:0000007 | 82.76 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.68 | gold quality |
| connective tissue | UBERON:0002384 | 82.66 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-110499 | no | 353.31 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
Literature-anchored findings (GeneRIF, showing 2)
- We report that Maf1 interacts with a novel coiled-coil domain containing protein that we have called Macoco. (PMID:20417281)
- Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype. (PMID:31654588)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cep112 | ENSDARG00000079679 |
| mus_musculus | Cep112 | ENSMUSG00000020728 |
| rattus_norvegicus | Cep112 | ENSRNOG00000024557 |
Protein
Protein identifiers
Centrosomal protein of 112 kDa — Q8N8E3 (reviewed: Q8N8E3)
Alternative names: Coiled-coil domain-containing protein 46
All UniProt accessions (13): Q8N8E3, A0A9L9PXB5, A0A9L9PXI6, A0A9L9PXV5, A0A9L9PXX9, A0A9L9PYC3, A0A9L9PYC7, F5GYE8, J3KSN4, J3QL98, J3QQV3, J3QRD9, J3QSA5
UniProt curated annotations — full annotation on UniProt →
Function. Recruits mRNAs essential for sperm development, such as CFAP61 and FSIP2 mRNAs, into phase-separated condensates, thereby regulating their translation through a mechanism of liquid-liquid phase separation.
Subunit / interactions. Interacts with HNRNPA2B1, EEF1A1 and EIF4A1.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleus. Cytoplasmic ribonucleoprotein granule. Flagellum axoneme. Centriole.
Disease relevance. Spermatogenic failure 44 (SPGF44) [MIM:619044] An autosomal recessive infertility disorder caused by spermatogenesis defects and characterized by the presence of acephalic spermatozoa in the semen of affected individuals. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N8E3-1 | 1 | yes |
| Q8N8E3-2 | 2 |
RefSeq proteins (6): NP_001032402, NP_001186094, NP_001289820, NP_001340056, NP_001340057, NP_001340058 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027831 | DUF4485 | Domain |
| IPR055310 | CEP112 | Family |
Pfam: PF14846
UniProt features (14 total): sequence variant 8, sequence conflict 2, splice variant 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N8E3-F1 | 76.22 | 0.35 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 121 (showing top):
BROWNE_HCMV_INFECTION_6HR_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, CAGCAGG_MIR370, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOCC_CENTROSOME, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, RIGGI_EWING_SARCOMA_PROGENITOR_UP, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, GOCC_SYNAPSE, GOCC_INHIBITORY_SYNAPSE, HAMAI_APOPTOSIS_VIA_TRAIL_UP
GO Biological Process (1): receptor localization to synapse (GO:0097120)
GO Molecular Function (2): molecular condensate scaffold activity (GO:0140693), protein binding (GO:0005515)
GO Cellular Component (5): centrosome (GO:0005813), plasma membrane (GO:0005886), inhibitory synapse (GO:0060077), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| localization | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| membrane | 1 |
| cell periphery | 1 |
| synapse | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
886 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEP112 | PMFBP1 | Q8TBY8 | 617 |
| CEP112 | TSGA10 | Q9BZW7 | 582 |
| CEP112 | SUN5 | Q8TC36 | 571 |
| CEP112 | TTC29 | Q8NA56 | 514 |
| CEP112 | SPATC1L | Q9H0A9 | 449 |
| CEP112 | CEP131 | Q9UPN4 | 426 |
| CEP112 | CEP135 | Q66GS9 | 420 |
| CEP112 | BRDT | Q58F21 | 395 |
| CEP112 | HOOK1 | Q9UJC3 | 386 |
| CEP112 | DNAH6 | Q9C0G6 | 382 |
| CEP112 | A0A087WUM3 | A0A087WUM3 | 380 |
| CEP112 | CNTLN | Q9NXG0 | 371 |
| CEP112 | WDR37 | Q9Y2I8 | 362 |
| CEP112 | CEP128 | Q6ZU80 | 357 |
| CEP112 | TTC21A | Q8NDW8 | 344 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| CEP112 | YWHAE | psi-mi:“MI:0915”(physical association) | 0.540 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| rep | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | SHTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAE | SHTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| YWHAQ | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| SFN | CEP112 | psi-mi:“MI:0915”(physical association) | 0.470 |
| CEP112 | API5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NFKB1 | NFKB1 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAZ | SPEG | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAH | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAQ | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAB | BRAF | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | BRAF | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAH | BRAF | psi-mi:“MI:0914”(association) | 0.350 |
| S100B | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| PNMA2 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP112 | PRPS2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (49): CEP112 (Affinity Capture-MS), CEP112 (Affinity Capture-MS), CEP112 (Biochemical Activity), CEP112 (Affinity Capture-MS), CEP112 (Affinity Capture-RNA), CEP112 (Affinity Capture-MS), API5 (Proximity Label-MS), CEP112 (Affinity Capture-MS), CEP112 (Proximity Label-MS), CEP112 (Affinity Capture-MS), CEP112 (Proximity Label-MS), CEP112 (Proximity Label-MS), CEP112 (Proximity Label-MS), PRPS2 (Affinity Capture-MS), CEP112 (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8QCI3, A3KGV1, A3KNA5, A7MD70, B1WB65, B8JK76, F6ZDS4, G5E861, O35550, O35551, P55937, P85001, Q08DR9, Q15276, Q2T9U2, Q4R6W3, Q4R703, Q4R8C3, Q502I3, Q5BJF6, Q5M9N0, Q5PQ23, Q5PR68, Q5R829, Q5RG45, Q5ZKK5, Q66GS9, Q66KE8, Q6AYX5, Q6NRC9, Q6NRW2, Q6NY15, Q6P5D4, Q6ZU80, Q80UF4, Q811U3, Q86SQ7, Q8BI22, Q8CDI6, Q8CDI7
Diamond homologs: Q5PR68, Q8N8E3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 313.5× | 3e-15 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 276.6× | 4e-15 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 276.6× | 4e-15 |
| Activation of BH3-only proteins | 7 | 204.4× | 4e-14 |
| RHO GTPases activate PKNs | 7 | 130.6× | 1e-12 |
| Intrinsic Pathway for Apoptosis | 7 | 120.6× | 2e-12 |
| FOXO-mediated transcription | 5 | 98.8× | 1e-08 |
| SARS-CoV-1-host interactions | 7 | 72.3× | 7e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 5 | 83.3× | 4e-07 |
| intracellular protein localization | 7 | 33.3× | 2e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
166 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 1 |
| Uncertain significance | 123 |
| Likely benign | 11 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 981489 | NM_001199165.4(CEP112):c.496C>T (p.Arg166Ter) | Pathogenic |
| 981491 | NM_001199165.4(CEP112):c.2104C>T (p.Arg702Cys) | Pathogenic |
| 4526594 | NM_001199165.4(CEP112):c.1252C>T (p.Gln418Ter) | Likely pathogenic |
SpliceAI
6789 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:65635879:T:C | donor_gain | 1.0000 |
| 17:65640959:ATTAC:A | donor_loss | 1.0000 |
| 17:65640960:TTA:T | donor_loss | 1.0000 |
| 17:65640961:TACCT:T | donor_loss | 1.0000 |
| 17:65640962:A:C | donor_loss | 1.0000 |
| 17:65641061:GTTAT:G | acceptor_gain | 1.0000 |
| 17:65641062:TTAT:T | acceptor_gain | 1.0000 |
| 17:65641063:TAT:T | acceptor_gain | 1.0000 |
| 17:65641064:ATC:A | acceptor_loss | 1.0000 |
| 17:65641065:TCTA:T | acceptor_loss | 1.0000 |
| 17:65641066:C:CC | acceptor_gain | 1.0000 |
| 17:65641067:T:C | acceptor_loss | 1.0000 |
| 17:65641071:T:TC | acceptor_gain | 1.0000 |
| 17:65743064:TTA:T | donor_loss | 1.0000 |
| 17:65743067:CCTT:C | donor_loss | 1.0000 |
| 17:65743214:TGAT:T | acceptor_gain | 1.0000 |
| 17:65743215:GAT:G | acceptor_gain | 1.0000 |
| 17:65743216:AT:A | acceptor_gain | 1.0000 |
| 17:65743218:C:CC | acceptor_gain | 1.0000 |
| 17:65743218:CTA:C | acceptor_loss | 1.0000 |
| 17:65851798:TCTTA:T | donor_loss | 1.0000 |
| 17:65851799:CTTAC:C | donor_loss | 1.0000 |
| 17:65851800:TTA:T | donor_loss | 1.0000 |
| 17:65851801:TAC:T | donor_loss | 1.0000 |
| 17:65851802:A:AC | donor_gain | 1.0000 |
| 17:65851802:A:AT | donor_loss | 1.0000 |
| 17:65851802:AC:A | donor_gain | 1.0000 |
| 17:65851803:C:CG | donor_gain | 1.0000 |
| 17:65851803:CC:C | donor_gain | 1.0000 |
| 17:65851803:CCT:C | donor_gain | 1.0000 |
AlphaMissense
6359 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:66177000:A:G | W43R | 0.998 |
| 17:66177000:A:T | W43R | 0.998 |
| 17:66063018:A:G | L340P | 0.997 |
| 17:66176939:C:G | R63P | 0.996 |
| 17:65927667:A:G | L632P | 0.995 |
| 17:66176906:A:G | L74P | 0.995 |
| 17:66176987:A:G | L47P | 0.995 |
| 17:66053779:A:G | L392P | 0.994 |
| 17:66176879:A:G | F83S | 0.994 |
| 17:66176998:C:A | W43C | 0.994 |
| 17:66176998:C:G | W43C | 0.994 |
| 17:65961540:C:G | A599P | 0.993 |
| 17:66176878:A:C | F83L | 0.993 |
| 17:66176878:A:T | F83L | 0.993 |
| 17:66176880:A:G | F83L | 0.993 |
| 17:66176906:A:T | L74H | 0.993 |
| 17:66176928:C:G | A67P | 0.992 |
| 17:66183217:A:T | V28D | 0.992 |
| 17:66183225:C:A | K25N | 0.992 |
| 17:66183225:C:G | K25N | 0.992 |
| 17:65640974:A:G | L930P | 0.991 |
| 17:66053878:A:G | L359P | 0.991 |
| 17:65961531:C:G | A602P | 0.990 |
| 17:66053782:C:G | R391P | 0.990 |
| 17:66066789:A:G | L315P | 0.990 |
| 17:65961549:C:G | A596P | 0.989 |
| 17:66176918:A:G | L70S | 0.989 |
| 17:65927646:C:G | R639P | 0.988 |
| 17:66030004:A:G | L413P | 0.988 |
| 17:66053800:A:G | L385P | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000012702 (17:66177911 G>A), RS1000013855 (17:66070990 A>T), RS1000015231 (17:65637205 G>C), RS1000020278 (17:66152162 G>A), RS1000020939 (17:66185070 G>A), RS1000023964 (17:65696102 A>G,T), RS1000030396 (17:66063837 T>A,C), RS1000035934 (17:65667330 G>C), RS1000040546 (17:65971346 A>G), RS1000048204 (17:65647587 C>T), RS1000059279 (17:65759194 T>A,C), RS1000065123 (17:65726167 C>T), RS1000069870 (17:66021704 C>T), RS1000077132 (17:66063738 T>C), RS1000082335 (17:65673612 A>G)
Disease associations
OMIM: gene MIM:618980 | disease phenotypes: MIM:619044
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 44 | Limited | Unknown |
Mondo (1): spermatogenic failure 44 (MONDO:0033622)
Orphanet (0):
HPO phenotypes
6 total (6 of 6 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003251 | Male infertility |
| HP:0008734 | Decreased testicular size |
| HP:0012207 | Reduced sperm motility |
| HP:0012869 | Acephalic spermatozoa |
| HP:0030087 | Abnormal circulating testosterone concentration |
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000684_6 | Attention deficit hyperactivity disorder | 1.000000e-06 |
| GCST001800_4 | β2-Glycoprotein I (β2-GPI) plasma levels | 7.000000e-07 |
| GCST001800_6 | β2-Glycoprotein I (β2-GPI) plasma levels | 1.000000e-06 |
| GCST003262_303 | Post bronchodilator FEV1 | 2.000000e-06 |
| GCST003262_885 | Post bronchodilator FEV1 | 5.000000e-06 |
| GCST003563_1 | Presence of antiphospholipid antibodies | 1.000000e-11 |
| GCST003563_2 | Presence of antiphospholipid antibodies | 1.000000e-11 |
| GCST003563_8 | Presence of antiphospholipid antibodies | 6.000000e-11 |
| GCST003989_21 | Chin dimples | 1.000000e-14 |
| GCST005348_28 | Total body bone mineral density | 7.000000e-10 |
| GCST007741_16 | Iris color (b* coordinate) | 5.000000e-06 |
| GCST009159_4 | Blood protein levels | 2.000000e-08 |
| GCST010703_202 | Brain morphology (MOSTest) | 1.000000e-11 |
| GCST011011_17 | Youthful appearance (self-reported) | 6.000000e-13 |
| GCST90000654_67 | Central corneal thickness | 3.000000e-09 |
| GCST90002400_228 | Plateletcrit | 1.000000e-11 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004555 | glycoprotein measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0009764 | eye colour measurement |
| EFO:0004747 | protein measurement |
| EFO:0004813 | alpha globulin measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0005213 | central corneal thickness |
| EFO:0007985 | platelet crit |
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 |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 4 |
| Valproic Acid | decreases methylation, increases expression, affects expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| entinostat | affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Cisplatin | decreases expression, affects cotreatment | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Indomethacin | increases expression, affects cotreatment | 1 |
| Phthalic Acids | increases methylation | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Asbestos, Serpentine | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: spermatogenic failure 44
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): spermatogenic failure 44