SEPTIN12

Summary

SEPTIN12 (septin 12, HGNC:26348) is a protein-coding gene on chromosome 16p13.3, encoding Septin-12 (Q8IYM1). Filament-forming cytoskeletal GTPase.

This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 124404 — RefSeq curated summary.

At a glance

• Gene–disease (curated): non-syndromic male infertility due to sperm motility disorder (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 116 total
• Phenotypes (HPO): 6
• MANE Select transcript: NM_144605

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26348
Approved symbol	SEPTIN12
Name	septin 12
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25410
Ensembl gene	ENSG00000140623
Ensembl biotype	protein_coding
OMIM	611562
Entrez	124404

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 3 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000268231, ENST00000396693, ENST00000587603, ENST00000588241, ENST00000590303, ENST00000590741, ENST00000591624, ENST00000591861

RefSeq mRNA: 2 — MANE Select: NM_144605 NM_001154458, NM_144605

CCDS: CCDS10522, CCDS53987

Canonical transcript exons

ENST00000268231 — 10 exons

Exon	Start	End
ENSE00000000189	4777606	4777998
ENSE00000944184	4783649	4783766
ENSE00000944185	4783462	4783557
ENSE00001674859	4788280	4788345
ENSE00003465777	4785980	4786105
ENSE00003542481	4778086	4778137
ENSE00003546892	4785807	4785888
ENSE00003582830	4783931	4784068
ENSE00003606263	4779690	4779786
ENSE00003655772	4787480	4787667

Expression profiles

Bgee: expression breadth ubiquitous, 117 present calls, max score 97.52.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4027 / max 402.8189, expressed in 6 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156119	0.3975	6
156118	0.0052	2

Top tissues by expression

131 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.52	gold quality
right testis	UBERON:0004534	97.31	gold quality
testis	UBERON:0000473	97.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.02	gold quality
cerebellar cortex	UBERON:0002129	76.19	gold quality
cerebellar hemisphere	UBERON:0002245	76.04	gold quality
cerebellum	UBERON:0002037	76.00	gold quality
right hemisphere of cerebellum	UBERON:0014890	75.94	gold quality
primary visual cortex	UBERON:0002436	64.65	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	63.15	gold quality
medulla oblongata	UBERON:0001896	61.98	gold quality
mucosa of transverse colon	UBERON:0004991	59.50	gold quality
putamen	UBERON:0001874	58.51	gold quality
right frontal lobe	UBERON:0002810	58.46	gold quality
Brodmann (1909) area 9	UBERON:0013540	58.19	gold quality
Ammon’s horn	UBERON:0001954	57.20	gold quality
substantia nigra	UBERON:0002038	57.05	gold quality
brain	UBERON:0000955	56.11	gold quality
superior frontal gyrus	UBERON:0002661	55.38	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	55.13	gold quality
hypothalamus	UBERON:0001898	55.00	gold quality
caudate nucleus	UBERON:0001873	54.61	gold quality
amygdala	UBERON:0001876	54.08	gold quality
temporal lobe	UBERON:0001871	53.71	gold quality
cerebral cortex	UBERON:0000956	52.80	gold quality
granulocyte	CL:0000094	52.66	gold quality
anterior cingulate cortex	UBERON:0009835	52.04	gold quality
nucleus accumbens	UBERON:0001882	51.67	gold quality
frontal cortex	UBERON:0001870	49.78	gold quality
bone marrow	UBERON:0002371	49.63	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting SEPTIN12, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-7705	98.69	67.47	543
HSA-MIR-4490	98.51	68.47	943
HSA-MIR-3650	97.88	64.89	693
HSA-MIR-6854-5P	96.77	65.96	848
HSA-MIR-4774-5P	95.92	68.27	827

Literature-anchored findings (GeneRIF, showing 14)

• While SEPT12 formed filamentous structures at interphase, it was localized to the central spindle and to midbody during anaphase and cytokinesis, respectively. (PMID:18047794)
• Decreases in SEPTIN12 expression is associated with male infertility. (PMID:19359518)
• Eight coding single-nucleotide polymorphisms in SEPTIN12 were detected in the patients with Sertoli cell-only syndrome. Analysis of the results suggest that SEPTIN12 might play a critical role in human spermatogenesis. (PMID:21636737)
• The c.204G>C (Gln38His) variant in the SEPTIN12 gene was associated with increased susceptibility to azoospermia caused by meiotic arrest (PMID:22116646)
• SEPT12 mutations cause male infertility with defective sperm annulus and disrupt sperm structural integrity (PMID:22275165)
• SEPTIN12 genetic variants confer susceptibility to teratozoospermia (PMID:22479503)
• we discovered that the SEPTIN12-microtubule complexes are critical for sperm formation during spermiogenesis (PMID:24213608)
• results demonstrate the molecular architecture of SEPT12 filaments at the sperm annulus, their mechanical support of sperm motility, and their correlation with male infertility. (PMID:25588830)
• In mature human spermatozoa, SEPT12 and NDC1 are majorly colocalized in the centrosome regions; however, NDC1 is only slightly co-expressed with SEPT12 at the annulus of the sperm tail. (PMID:27854341)
• Single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene is associated with male idiopathic infertility. (PMID:30488758)
• the current work identified the promoter of the human SEPT12 gene and provided key evidence about its transcriptional regulation via E2 and 5alpha-DHT. (PMID:30513371)
• Single-nucleotide polymorphism c.474G>A in the SEPT12 gene is a predisposing factor in male infertility. (PMID:31880374)
• SEPTIN12 c.474 G > A polymorphism as a risk factor in teratozoospermic patients. (PMID:34057684)
• SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction. (PMID:38870534)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	septin12	ENSDARG00000019191
mus_musculus	Septin12	ENSMUSG00000022542
rattus_norvegicus	Septin12	ENSRNOG00000003137

Paralogs (12): SEPTIN3 (ENSG00000100167), SEPTIN7 (ENSG00000122545), SEPTIN6 (ENSG00000125354), SEPTIN11 (ENSG00000138758), SEPTIN14 (ENSG00000154997), SEPTIN8 (ENSG00000164402), SEPTIN2 (ENSG00000168385), SEPTIN1 (ENSG00000180096), SEPTIN9 (ENSG00000184640), SEPTIN5 (ENSG00000184702), SEPTIN10 (ENSG00000186522), TMEM250 (ENSG00000238227)

Protein

Protein identifiers

Septin-12 — Q8IYM1 (reviewed: Q8IYM1)

All UniProt accessions (6): A0A140VJU2, Q8IYM1, K7EIJ5, K7EP57, K7EP92, K7ES86

UniProt curated annotations — full annotation on UniProt →

Function. Filament-forming cytoskeletal GTPase. Involved in spermatogenesis. Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins. Forms a filamentous structure with SEPTIN7, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation. May play a role in cytokinesis (Potential).

Subunit / interactions. Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation. Interacts with SEPTIN6 and SEPTIN11. Self-associates. Component of a septin core octameric complex consisting of SEPTIN12, SEPTIN7, SEPTIN6 and SEPTIN2 or SEPTIN4 in the order 12-7-6-2-2-6-7-12 or 12-7-6-4-4-6-7-12 and located in the sperm annulus; the octamer polymerizes into filaments via the SEPTIN12 N- and C-termini; the SEPTIN12:SEPTIN7 association is mediated by the respective GTP-binding domains. Interacts with SPAG4 and LMNB1. Associates with alpha- and beta-tubulins.

Subcellular location. Cytoplasm. Cytoskeleton. Spindle. Nucleus. Cell projection. Cilium. Flagellum.

Tissue specificity. Widely expressed. Expressed in lymph node.

Disease relevance. Spermatogenic failure 10 (SPGF10) [MIM:614822] An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IYM1-1	1	yes
Q8IYM1-2	2

RefSeq proteins (2): NP_001147930, NP_653206* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016491	Septin	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR030379	G_SEPTIN_dom	Domain

Pfam: PF00735

UniProt features (46 total): helix 11, strand 10, binding site 6, region of interest 6, sequence variant 3, sequence conflict 3, turn 2, chain 1, domain 1, splice variant 1, mutagenesis site 1, compositionally biased region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
6MQ9	X-RAY DIFFRACTION	1.86
6MQB	X-RAY DIFFRACTION	2.12
6MQL	X-RAY DIFFRACTION	2.17
6MQK	X-RAY DIFFRACTION	2.19

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYM1-F1	82.26	0.59

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (6): 89; 115; 195–203; 251; 266; 56–63

Mutagenesis-validated functional residues (1):

Position	Phenotype
56	abolishes binding to gtp and to septin11, and also abolishes the ability of septin12 to form filamentous structures.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 86 (showing top): GOBP_MALE_GAMETE_GENERATION, GOBP_CYTOKINESIS, INGRAM_SHH_TARGETS_DN, MYB_Q3, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, MYB_Q5_01, GOCC_SPINDLE, GOBP_CYTOSKELETON_DEPENDENT_CYTOKINESIS, GOCC_ACTIN_FILAMENT_BUNDLE, GOCC_MOTILE_CILIUM, GOBP_CELL_DIVISION, GOCC_ACTOMYOSIN, GOCC_CELL_DIVISION_SITE, GOCC_MIDBODY, GOCC_PLASMA_MEMBRANE_REGION

GO Biological Process (5): spermatogenesis (GO:0007283), intracellular protein localization (GO:0008104), cell differentiation (GO:0030154), cytoskeleton-dependent cytokinesis (GO:0061640), cell division (GO:0051301)

GO Molecular Function (9): GTPase activity (GO:0003924), GTP binding (GO:0005525), GDP binding (GO:0019003), phosphatidylinositol binding (GO:0035091), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), molecular adaptor activity (GO:0060090), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (16): stress fiber (GO:0001725), nucleus (GO:0005634), spindle (GO:0005819), septin ring (GO:0005940), microtubule cytoskeleton (GO:0015630), midbody (GO:0030496), septin complex (GO:0031105), cell division site (GO:0032153), cleavage furrow (GO:0032154), perinuclear region of cytoplasm (GO:0048471), sperm annulus (GO:0097227), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
guanyl ribonucleotide binding	2
anion binding	2
binding	2
intracellular membraneless organelle	2
cytoskeleton	2
cell cortex	2
septin cytoskeleton	2
developmental process involved in reproduction	1
male gamete generation	1
macromolecule localization	1
cellular developmental process	1
cytokinesis	1
cellular process	1
ribonucleoside triphosphate phosphatase activity	1
purine ribonucleoside triphosphate binding	1
protein binding	1
identical protein binding	1
protein dimerization activity	1
molecular_function	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
actomyosin	1
contractile actin filament bundle	1
intracellular membrane-bounded organelle	1
microtubule cytoskeleton	1
protein-containing complex	1
cell division site	1
plasma membrane region	1
cytoplasm	1
sperm flagellum	1
intracellular anatomical structure	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

716 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEPTIN12	SEPTIN4	O43236	783
SEPTIN12	SPAG4	Q9NPE6	543
SEPTIN12	SUN3	Q8TAQ9	509
SEPTIN12	SPATA46	Q5T0L3	496
SEPTIN12	CDC42EP5	Q6NZY7	494
SEPTIN12	DPY19L2	Q6NUT2	491
SEPTIN12	TXNDC8	Q6A555	489
SEPTIN12	DNAJB13	P59910	474
SEPTIN12	SUN5	Q8TC36	474
SEPTIN12	SEPTIN5	Q99719	469
SEPTIN12	SUN2	Q9UH99	466
SEPTIN12	SPATA16	Q9BXB7	463
SEPTIN12	DNAH1	Q9P2D7	460
SEPTIN12	NDC1	Q9BTX1	453
SEPTIN12	SLAMF9	Q96A28	448

IntAct

90 interactions, top by confidence:

A	B	Type	Score
SEPTIN12	SEPTIN6	psi-mi:“MI:0915”(physical association)	0.830
SEPTIN12	SEPTIN6	psi-mi:“MI:0403”(colocalization)	0.830
SEPTIN12	SEPTIN6	psi-mi:“MI:0914”(association)	0.830
SEPTIN5	SEPTIN12	psi-mi:“MI:0915”(physical association)	0.830
SEPTIN12	SEPTIN5	psi-mi:“MI:0915”(physical association)	0.830
SEPTIN6	SEPTIN12	psi-mi:“MI:0407”(direct interaction)	0.830
SEPTIN6	SEPTIN12	psi-mi:“MI:0915”(physical association)	0.830
SEPTIN12	SEPTIN1	psi-mi:“MI:0915”(physical association)	0.800
SEPTIN1	SEPTIN12	psi-mi:“MI:0915”(physical association)	0.800
SEPTIN12	SEPTIN4	psi-mi:“MI:0915”(physical association)	0.730
SEPTIN12	SEPTIN7	psi-mi:“MI:0403”(colocalization)	0.730
SEPTIN12	SEPTIN4	psi-mi:“MI:0403”(colocalization)	0.730
SEPTIN12	SEPTIN7	psi-mi:“MI:0915”(physical association)	0.730

BioGRID (52): SEPT12 (Two-hybrid), CCT7 (Affinity Capture-MS), SEPT4 (Affinity Capture-MS), SEPT2 (Affinity Capture-MS), SEPT7 (Affinity Capture-MS), SEPT5 (Affinity Capture-MS), SEPT6 (Affinity Capture-MS), SEPT8 (Affinity Capture-MS), SEPT11 (Affinity Capture-MS), SEPT10 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), SEPT3 (Affinity Capture-MS), PDS5B (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), SEPT1 (Two-hybrid)

ESM2 similar proteins: A0A096MJN4, A2BGU8, A4FUM1, A5D7Q3, A5PJU9, A6QQL3, B0BNF1, B0KWP7, B1H120, B1MTN8, B2KIE9, B3GNI6, B5FW69, O36023, O43236, P28661, P32468, P40797, P42209, P48010, Q08DM7, Q0VC68, Q0VCP4, Q14141, Q2KJB1, Q3SZN0, Q4R4X5, Q4R555, Q4V8G5, Q5EB96, Q5PQK1, Q5R6R7, Q5REG8, Q6AXA6, Q6IRQ5, Q8C1B7, Q8C650, Q8CHH9, Q8IYM1, Q92599

Diamond homologs: A0A096MJN4, A0A3Q0KDV9, A1L0Y5, A2BGU8, A2VE99, A4FUM1, A5D7Q3, A5PJU9, A6QQL3, B0BNF1, B0KWP7, B1H120, B1MTN8, B2KIE9, B3GNI6, B5FW69, G1UB61, O36023, O43236, O55131, O60165, P25342, P28661, P32457, P32458, P32468, P39826, P39827, P40797, P41901, P42207, P42208, P42209, P48008, P48009, P48010, P54359, Q04921, Q08DM7, Q09116

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SEPTIN12	down-regulates	SEPTIN6	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
cytoskeleton-dependent cytokinesis	6	218.9×	7e-11
intracellular protein localization	7	33.3×	3e-07
spermatogenesis	7	11.2×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

116 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	89
Likely benign	8
Benign	15

Top pathogenic / likely-pathogenic (0)

SpliceAI

1776 predictions. Top by Δscore:

Variant	Effect	Δscore
16:4777999:C:CC	acceptor_gain	1.0000
16:4779685:CTGA:C	donor_loss	1.0000
16:4779686:TGACC:T	donor_loss	1.0000
16:4779687:GACC:G	donor_loss	1.0000
16:4779689:C:CA	donor_loss	1.0000
16:4779782:CGGTC:C	acceptor_gain	1.0000
16:4779787:C:CC	acceptor_gain	1.0000
16:4779788:T:G	acceptor_loss	1.0000
16:4783467:A:C	donor_gain	1.0000
16:4785802:CCTA:C	donor_loss	1.0000
16:4785803:CTAC:C	donor_loss	1.0000
16:4785805:A:AC	donor_gain	1.0000
16:4785806:C:CC	donor_gain	1.0000
16:4785884:TATGA:T	acceptor_gain	1.0000
16:4785885:ATGA:A	acceptor_gain	1.0000
16:4785886:TGA:T	acceptor_gain	1.0000
16:4785887:GA:G	acceptor_gain	1.0000
16:4785889:C:CC	acceptor_gain	1.0000
16:4785891:G:C	acceptor_gain	1.0000
16:4785976:TCA:T	donor_loss	1.0000
16:4785977:CACC:C	donor_loss	1.0000
16:4785978:A:AC	donor_gain	1.0000
16:4785978:ACCA:A	donor_loss	1.0000
16:4785979:C:CC	donor_gain	1.0000
16:4786101:TTGCC:T	acceptor_gain	1.0000
16:4786102:TGCC:T	acceptor_gain	1.0000
16:4786104:CC:C	acceptor_gain	1.0000
16:4786105:CC:C	acceptor_gain	1.0000
16:4786105:CCTGG:C	acceptor_loss	1.0000
16:4786106:C:CA	acceptor_loss	1.0000

AlphaMissense

2360 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:4777943:G:T	R311S	0.996
16:4777942:C:G	R311P	0.995
16:4784021:A:G	L141P	0.995
16:4785833:G:C	F116L	0.994
16:4785833:G:T	F116L	0.994
16:4785835:A:G	F116L	0.994
16:4785858:A:G	L108P	0.993
16:4777981:A:G	L298P	0.992
16:4779716:C:G	R266P	0.992
16:4783698:G:T	A194D	0.992
16:4783973:C:G	R157P	0.992
16:4783998:G:T	R149S	0.992
16:4777969:G:A	T302I	0.991
16:4783980:C:G	D155H	0.991
16:4787480:C:A	G56W	0.991
16:4778095:A:G	L289P	0.990
16:4783668:C:G	R204P	0.990
16:4783683:A:G	L199P	0.990
16:4783974:G:C	R157G	0.990
16:4777943:G:C	R311G	0.989
16:4778118:A:C	C281W	0.989
16:4779776:G:T	P246H	0.989
16:4783701:A:T	I193N	0.989
16:4783960:G:C	C161W	0.989
16:4783962:A:G	C161R	0.989
16:4786090:C:T	G61D	0.989
16:4786105:C:T	G56E	0.989
16:4787480:C:G	G56R	0.989
16:4787480:C:T	G56R	0.989
16:4777951:T:A	E308V	0.988

dbSNP variants (sampled 300 via entrez): RS1000019392 (16:4782653 G>A,C), RS1000266886 (16:4789191 T>C), RS1000340856 (16:4789395 G>A,T), RS1000435659 (16:4780066 A>G), RS1000486573 (16:4780363 T>C), RS1000506423 (16:4777284 C>A), RS1000631884 (16:4790247 G>C), RS1000663083 (16:4790407 T>A), RS1000694825 (16:4784381 C>A,T), RS1000773815 (16:4779348 G>A), RS1000902338 (16:4782501 T>C), RS1000930505 (16:4791147 G>A), RS1001089016 (16:4778461 A>G,T), RS1001090054 (16:4787243 C>A), RS1001458062 (16:4778272 T>C)

Disease associations

OMIM: gene MIM:611562 | disease phenotypes: MIM:614822

GenCC curated gene-disease

Disease	Classification	Inheritance
non-syndromic male infertility due to sperm motility disorder	Supportive	Autosomal recessive
spermatogenic failure 10	Limited	Autosomal dominant

Mondo (2): spermatogenic failure 10 (MONDO:0013901), (MONDO:0017173)

Orphanet (1): Non-syndromic male infertility due to sperm motility disorder (Orphanet:276234)

HPO phenotypes

6 total (6 of 6 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000798	Oligozoospermia
HP:0003251	Male infertility
HP:0011462	Young adult onset
HP:0012207	Reduced sperm motility
HP:0012864	Abnormal sperm morphology

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003542_157	Night sleep phenotypes	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	increases expression	1
Magnetite Nanoparticles	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.