HAUS1
gene geneOn this page
Also known as HEI-CHsT1461FLJ40084
Summary
HAUS1 (HAUS augmin like complex subunit 1, HGNC:25174) is a protein-coding gene on chromosome 18q21.1, encoding HAUS augmin-like complex subunit 1 (Q96CS2). Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb ‘augmentare,’ meaning ’to increase.’ The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).
Source: NCBI Gene 115106 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 60 total
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_138443
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25174 |
| Approved symbol | HAUS1 |
| Name | HAUS augmin like complex subunit 1 |
| Location | 18q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HEI-C, HsT1461, FLJ40084 |
| Ensembl gene | ENSG00000152240 |
| Ensembl biotype | protein_coding |
| OMIM | 608775 |
| Entrez | 115106 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 17 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000282058, ENST00000585425, ENST00000585518, ENST00000586060, ENST00000588704, ENST00000589554, ENST00000591098, ENST00000591715, ENST00000592206, ENST00000592471, ENST00000593165, ENST00000595199, ENST00000857067, ENST00000857068, ENST00000857069, ENST00000857070, ENST00000857071, ENST00000857072, ENST00000857073, ENST00000921196, ENST00000921197, ENST00000921198, ENST00000921199, ENST00000921200, ENST00000921201, ENST00000921202
RefSeq mRNA: 1 — MANE Select: NM_138443
NM_138443
CCDS: CCDS11928
Canonical transcript exons
ENST00000282058 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002860585 | 46104385 | 46104441 |
| ENSE00002934719 | 46128075 | 46128333 |
| ENSE00003470771 | 46119926 | 46120060 |
| ENSE00003481667 | 46124822 | 46124893 |
| ENSE00003520362 | 46123299 | 46123364 |
| ENSE00003523057 | 46118181 | 46118316 |
| ENSE00003617507 | 46125744 | 46125791 |
| ENSE00003666165 | 46105194 | 46105368 |
| ENSE00003667290 | 46122467 | 46122590 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 96.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.2998 / max 3051.3775, expressed in 1799 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170144 | 27.1130 | 1799 |
| 170143 | 0.1868 | 65 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 96.32 | gold quality |
| ventricular zone | UBERON:0003053 | 94.96 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.37 | gold quality |
| cortical plate | UBERON:0005343 | 92.37 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.98 | gold quality |
| monocyte | CL:0000576 | 91.88 | gold quality |
| leukocyte | CL:0000738 | 91.66 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.36 | gold quality |
| rectum | UBERON:0001052 | 90.21 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.90 | gold quality |
| left ovary | UBERON:0002119 | 89.54 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 89.50 | gold quality |
| right ovary | UBERON:0002118 | 89.11 | gold quality |
| bone marrow | UBERON:0002371 | 88.88 | gold quality |
| ovary | UBERON:0000992 | 88.73 | gold quality |
| gall bladder | UBERON:0002110 | 88.55 | gold quality |
| lymph node | UBERON:0000029 | 88.51 | gold quality |
| granulocyte | CL:0000094 | 88.42 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.41 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 88.20 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.97 | gold quality |
| mucosa of stomach | UBERON:0001199 | 87.96 | gold quality |
| body of uterus | UBERON:0009853 | 87.72 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 87.60 | gold quality |
| ectocervix | UBERON:0012249 | 87.47 | gold quality |
| corpus epididymis | UBERON:0004359 | 87.40 | gold quality |
| tibial artery | UBERON:0007610 | 87.13 | gold quality |
| popliteal artery | UBERON:0002250 | 87.11 | gold quality |
| endocervix | UBERON:0000458 | 87.03 | gold quality |
| metanephros | UBERON:0000081 | 86.77 | 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)
16 targeting HAUS1, 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-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-548B-3P | 99.38 | 67.26 | 1000 |
| HSA-MIR-3125 | 99.14 | 68.49 | 2269 |
| HSA-MIR-3916 | 98.99 | 68.04 | 2155 |
| HSA-MIR-6859-5P | 98.99 | 68.07 | 2049 |
| HSA-MIR-1265 | 98.36 | 66.46 | 598 |
| HSA-MIR-4511 | 98.32 | 67.97 | 1500 |
| HSA-MIR-4778-5P | 97.96 | 68.06 | 1634 |
| HSA-MIR-3664-5P | 96.74 | 66.56 | 770 |
| HSA-MIR-3162-5P | 95.67 | 67.53 | 794 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- These results place human enhancer of invasion-cluster as a novel regulator of spindle function and integrity during the metaphase-anaphase transition. (PMID:15082789)
- Single-cell and bulk RNA-sequencing reveals mitosis-involved gene HAUS1 is a promising indicator for predicting prognosis and immune responses in prostate adenocarcinoma (PRAD). (PMID:38818762)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | haus1 | ENSDARG00000058968 |
| mus_musculus | Haus1 | ENSMUSG00000041840 |
| rattus_norvegicus | Haus1 | ENSRNOG00000017067 |
Protein
Protein identifiers
HAUS augmin-like complex subunit 1 — Q96CS2 (reviewed: Q96CS2)
Alternative names: Coiled-coil domain-containing protein 5, Enhancer of invasion-cluster
All UniProt accessions (7): Q96CS2, K7EJA9, K7EK72, K7EKH4, K7EM54, K7EQT8, K7ES67
UniProt curated annotations — full annotation on UniProt →
Function. Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.
Subunit / interactions. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Associates with microtubules. The interaction with microtubules is strong during mitosis, while it is weak or absent during interphase. It is unclear whether this interaction is direct or indirect. Interacts with EML3 (phosphorylated at ‘Thr-881’).
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle. Spindle pole.
Tissue specificity. Widely expressed. Expressed in pancreas, kidney, skeletal muscle, liver and heart. Weakly expressed in lung, brain and placenta.
Miscellaneous. HAUS1-depleted cells retain functional cell cycle checkpoints, but the depletion decreases the G2/M cell cycle compartment and induces apoptosis. The protein level remains constant through the cell cycle.
Similarity. Belongs to the HAUS1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96CS2-1 | 1 | yes |
| Q96CS2-2 | 2 |
RefSeq proteins (1): NP_612452* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026243 | HAUS1 | Family |
Pfam: PF25762
UniProt features (5 total): coiled-coil region 3, chain 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7SQK | ELECTRON MICROSCOPY | 8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96CS2-F1 | 88.63 | 0.60 |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| R-HSA-380259 | Loss of Nlp from mitotic centrosomes |
| R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome |
| R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| R-HSA-8854518 | AURKA Activation by TPX2 |
MSigDB gene sets: 161 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, RRAGTTGT_UNKNOWN, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MICROTUBULE_NUCLEATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, MUELLER_PLURINET, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION, GOCC_CENTROSOME, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY
GO Biological Process (4): centrosome cycle (GO:0007098), regulation of microtubule nucleation (GO:0010968), spindle assembly (GO:0051225), cell division (GO:0051301)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (9): spindle pole (GO:0000922), centrosome (GO:0005813), cytosol (GO:0005829), HAUS complex (GO:0070652), mitotic spindle microtubule (GO:1990498), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856), microtubule (GO:0005874)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| G2/M Transition | 2 |
| Centrosome maturation | 2 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 1 |
| Mitotic Prometaphase | 1 |
| Assembly of the 9+0 primary cilium | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| microtubule cytoskeleton | 2 |
| intracellular membraneless organelle | 2 |
| cell cycle process | 1 |
| microtubule organizing center organization | 1 |
| microtubule nucleation | 1 |
| regulation of microtubule polymerization | 1 |
| spindle organization | 1 |
| chromosome segregation | 1 |
| membraneless organelle assembly | 1 |
| cellular process | 1 |
| binding | 1 |
| spindle | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| microtubule associated complex | 1 |
| spindle microtubule | 1 |
| mitotic spindle | 1 |
| intracellular anatomical structure | 1 |
| polymeric cytoskeletal fiber | 1 |
Protein interactions and networks
STRING
1306 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HAUS1 | HAUS6 | Q7Z4H7 | 939 |
| HAUS1 | HAUS7 | Q99871 | 810 |
| HAUS1 | HAUS2 | Q9NVX0 | 793 |
| HAUS1 | HAUS4 | Q9H6D7 | 788 |
| HAUS1 | TUBG1 | P23258 | 782 |
| HAUS1 | HAUS8 | Q9BT25 | 781 |
| HAUS1 | NUMA1 | Q14980 | 714 |
| HAUS1 | HAUS3 | Q68CZ6 | 667 |
| HAUS1 | NEDD1 | Q8NHV4 | 638 |
| HAUS1 | TUBGCP4 | Q9UGJ1 | 629 |
| HAUS1 | CEP85 | Q6P2H3 | 528 |
| HAUS1 | HAUS5 | O94927 | 518 |
| HAUS1 | A6NLF2 | A6NLF2 | 436 |
| HAUS1 | ANAPC1 | Q9H1A4 | 429 |
| HAUS1 | OR5H1 | A6NKK0 | 419 |
IntAct
398 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DMD | HAUS1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| HAUS1 | DMD | psi-mi:“MI:0915”(physical association) | 0.800 |
| HAUS1 | WASHC3 | psi-mi:“MI:0915”(physical association) | 0.790 |
| WASHC3 | HAUS1 | psi-mi:“MI:0915”(physical association) | 0.790 |
| HAUS1 | KRT38 | psi-mi:“MI:0915”(physical association) | 0.740 |
| HAUS1 | CCHCR1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HAUS1 | TSG101 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSG101 | HAUS1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HAUS1 | IFT20 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SYCE3 | HAUS1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HAUS1 | C3orf62 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HAUS1 | LURAP1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HAUS1 | ODAD1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| IFT20 | HAUS1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| C3orf62 | HAUS1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| LURAP1 | HAUS1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ODAD1 | HAUS1 | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (258): HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid), HAUS1 (Two-hybrid)
ESM2 similar proteins: A8E4X8, H2LP95, O15259, O15360, O35347, O73770, O75182, O75800, O88480, P68943, P86182, Q14129, Q155Q3, Q17Q97, Q1JPG0, Q2TBK4, Q2TBN4, Q32KQ7, Q4KLN4, Q4R5A4, Q571B6, Q5M9F0, Q5RAX7, Q5RC14, Q5RKN3, Q6AXZ5, Q6NVC9, Q6ZS81, Q7L4E1, Q7SYB5, Q7TNH6, Q8BHR8, Q8C2K1, Q8C3S2, Q8N4C6, Q8N9B5, Q8R322, Q8TF30, Q8WYP5, Q920D3
Diamond homologs: Q2TBK4, Q8BHX1, Q96CS2, Q9R0A8, F4IK01
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HAUS1 | “form complex” | “HAUS complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 71 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 |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 7 | 27.8× | 3e-07 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 7 | 27.8× | 3e-07 |
| AURKA Activation by TPX2 | 7 | 26.6× | 3e-07 |
| Recruitment of mitotic centrosome proteins and complexes | 7 | 23.8× | 5e-07 |
| Anchoring of the basal body to the plasma membrane | 8 | 22.6× | 3e-07 |
| Regulation of PLK1 Activity at G2/M Transition | 7 | 22.2× | 6e-07 |
| Recruitment of NuMA to mitotic centrosomes | 7 | 20.4× | 1e-06 |
| Formation of the cornified envelope | 6 | 13.2× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centrosome cycle | 7 | 38.7× | 2e-07 |
| morphogenesis of an epithelium | 5 | 28.2× | 1e-04 |
| intermediate filament organization | 5 | 19.7× | 3e-04 |
| epithelial cell differentiation | 5 | 14.4× | 9e-04 |
| cilium assembly | 8 | 9.7× | 1e-04 |
| cell division | 10 | 7.6× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1757 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:46118313:C:G | donor_gain | 1.0000 |
| 18:46120061:G:GG | donor_gain | 1.0000 |
| 18:46122463:AAAG:A | acceptor_gain | 1.0000 |
| 18:46122463:AAAGG:A | acceptor_gain | 1.0000 |
| 18:46122466:GGGAT:G | acceptor_gain | 1.0000 |
| 18:46123361:AGAGG:A | donor_loss | 1.0000 |
| 18:46123362:GAG:G | donor_gain | 1.0000 |
| 18:46123363:AGGT:A | donor_loss | 1.0000 |
| 18:46123364:GGTG:G | donor_loss | 1.0000 |
| 18:46123365:G:T | donor_loss | 1.0000 |
| 18:46123366:T:A | donor_loss | 1.0000 |
| 18:46124889:TGCCG:T | donor_loss | 1.0000 |
| 18:46124890:GCCG:G | donor_gain | 1.0000 |
| 18:46124891:CCG:C | donor_loss | 1.0000 |
| 18:46124892:CG:C | donor_loss | 1.0000 |
| 18:46124894:G:GA | donor_loss | 1.0000 |
| 18:46124895:T:A | donor_loss | 1.0000 |
| 18:46125730:A:AG | acceptor_gain | 1.0000 |
| 18:46125731:T:G | acceptor_gain | 1.0000 |
| 18:46125740:A:AG | acceptor_gain | 1.0000 |
| 18:46125741:A:G | acceptor_gain | 1.0000 |
| 18:46125742:A:AG | acceptor_gain | 1.0000 |
| 18:46125743:G:GT | acceptor_gain | 1.0000 |
| 18:46125743:GA:G | acceptor_gain | 1.0000 |
| 18:46125743:GAA:G | acceptor_gain | 1.0000 |
| 18:46125743:GAAT:G | acceptor_gain | 1.0000 |
| 18:46125743:GAATC:G | acceptor_gain | 1.0000 |
| 18:46125787:AACTA:A | donor_gain | 1.0000 |
| 18:46125788:ACTA:A | donor_gain | 1.0000 |
| 18:46125789:CTA:C | donor_gain | 1.0000 |
AlphaMissense
1820 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:46125777:G:C | A258P | 0.988 |
| 18:46125757:C:A | A251D | 0.969 |
| 18:46124886:T:C | L244S | 0.957 |
| 18:46125784:G:C | R260P | 0.956 |
| 18:46125790:T:C | L262P | 0.950 |
| 18:46105203:T:A | W14R | 0.947 |
| 18:46105203:T:C | W14R | 0.947 |
| 18:46105207:T:C | L15S | 0.945 |
| 18:46105273:T:C | L37S | 0.942 |
| 18:46122554:G:C | K188N | 0.937 |
| 18:46122554:G:T | K188N | 0.937 |
| 18:46122540:T:C | F184L | 0.933 |
| 18:46122542:T:A | F184L | 0.933 |
| 18:46122542:T:G | F184L | 0.933 |
| 18:46105282:T:C | L40P | 0.930 |
| 18:46118315:A:C | S114R | 0.920 |
| 18:46119926:T:A | S114R | 0.920 |
| 18:46119926:T:G | S114R | 0.920 |
| 18:46128094:T:C | L269P | 0.919 |
| 18:46125756:G:C | A251P | 0.913 |
| 18:46105368:G:C | A69P | 0.909 |
| 18:46105347:G:C | A62P | 0.905 |
| 18:46118279:G:C | A102P | 0.896 |
| 18:46105205:G:C | W14C | 0.892 |
| 18:46105205:G:T | W14C | 0.892 |
| 18:46123338:C:G | H214D | 0.892 |
| 18:46122544:T:C | L185P | 0.891 |
| 18:46120054:T:C | L157P | 0.890 |
| 18:46123340:T:A | H214Q | 0.881 |
| 18:46123340:T:G | H214Q | 0.881 |
dbSNP variants (sampled 300 via entrez): RS1000051050 (18:46126217 G>T), RS1000139005 (18:46103938 T>G), RS1000190457 (18:46104318 G>A), RS1000196648 (18:46120370 G>T), RS1000228978 (18:46120546 C>A,T), RS1000287287 (18:46113930 C>T), RS1000301322 (18:46110597 C>T), RS1000383097 (18:46106843 C>T), RS1000478099 (18:46117148 A>G,T), RS1000658918 (18:46113585 C>T), RS1000941250 (18:46121831 ATTAT>A), RS1001020636 (18:46124720 T>C), RS1001278583 (18:46103876 T>C), RS1001453433 (18:46125077 T>C), RS1001561293 (18:46128396 A>G)
Disease associations
OMIM: gene MIM:608775 | 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
0 associations (top):
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
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases oxidation, decreases expression, affects cotreatment, increases abundance | 2 |
| Cyclosporine | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| trans-10,cis-12-conjugated linoleic acid | decreases expression | 1 |
| picoxystrobin | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | increases abundance, affects cotreatment, increases oxidation | 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