MNS1

Summary

MNS1 (meiosis specific nuclear structural 1, HGNC:29636) is a protein-coding gene on chromosome 15q21.3, encoding Meiosis-specific nuclear structural protein 1 (Q8NEH6). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis.

Source: NCBI Gene 55329 — RefSeq curated summary.

At a glance

• Gene–disease (curated): heterotaxy, visceral, 9, autosomal, with male infertility (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 28
• Clinical variants (ClinVar): 94 total — 2 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 7
• Druggable target: yes
• MANE Select transcript: NM_018365

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29636
Approved symbol	MNS1
Name	meiosis specific nuclear structural 1
Location	15q21.3
Locus type	gene with protein product
Status	Approved
Aliases	CFAP127, FLJ11222, SPATA40
Ensembl gene	ENSG00000138587
Ensembl biotype	protein_coding
OMIM	610766
Entrez	55329

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000260453, ENST00000558694, ENST00000566386, ENST00000876520, ENST00000876521, ENST00000957022

RefSeq mRNA: 1 — MANE Select: NM_018365 NM_018365

CCDS: CCDS10158

Canonical transcript exons

ENST00000260453 — 10 exons

Exon	Start	End
ENSE00000690505	56464026	56464247
ENSE00000884876	56428724	56429193
ENSE00000884878	56434138	56434395
ENSE00000884879	56443430	56443537
ENSE00000884880	56443638	56443854
ENSE00000884881	56444444	56444673
ENSE00000884882	56446841	56446943
ENSE00000884883	56456394	56456521
ENSE00001361334	56464970	56465137
ENSE00003689708	56431373	56431498

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 97.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.5923 / max 162.8225, expressed in 1011 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
150171	3.7720	887
150172	0.8203	419

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	97.49	gold quality
epithelium of bronchus	UBERON:0002031	96.84	gold quality
right uterine tube	UBERON:0001302	95.94	gold quality
bronchus	UBERON:0002185	95.56	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.03	gold quality
left testis	UBERON:0004533	91.79	gold quality
right testis	UBERON:0004534	90.86	gold quality
sperm	CL:0000019	90.69	gold quality
testis	UBERON:0000473	90.23	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.61	gold quality
male germ cell	CL:0000015	89.14	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.39	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.37	gold quality
choroid plexus epithelium	UBERON:0003911	87.13	gold quality
ventricular zone	UBERON:0003053	85.37	gold quality
sural nerve	UBERON:0015488	83.29	gold quality
calcaneal tendon	UBERON:0003701	82.56	gold quality
epithelium of nasopharynx	UBERON:0001951	82.01	gold quality
secondary oocyte	CL:0000655	80.68	gold quality
ganglionic eminence	UBERON:0004023	80.68	gold quality
nasal cavity epithelium	UBERON:0005384	80.43	silver quality
caput epididymis	UBERON:0004358	79.60	gold quality
tendon	UBERON:0000043	79.01	gold quality
metanephros cortex	UBERON:0010533	78.43	gold quality
cerebellar hemisphere	UBERON:0002245	77.90	gold quality
cerebellar cortex	UBERON:0002129	77.88	gold quality
nasal cavity mucosa	UBERON:0001826	77.51	gold quality
right hemisphere of cerebellum	UBERON:0014890	77.22	gold quality
cerebellum	UBERON:0002037	76.82	gold quality
embryo	UBERON:0000922	75.23	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	25.56
E-GEOD-130148	yes	11.33
E-CURD-114	yes	11.09
E-ANND-3	yes	10.35
E-MTAB-9388	yes	7.72
E-MTAB-6524	no	17.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting MNS1, 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-4282	99.99	75.36	6408
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-140-5P	99.44	67.20	792
HSA-MIR-6080	99.43	69.43	373
HSA-MIR-4460	99.37	68.52	615
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-20B-3P	99.29	67.05	784
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-374A-3P	98.87	67.82	1531
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-5572	98.55	65.84	970
HSA-MIR-4252	98.45	66.37	987
HSA-MIR-628-5P	98.36	67.74	844
HSA-MIR-148B-5P	97.29	66.30	992
HSA-MIR-6874-3P	97.29	66.34	975
HSA-MIR-203B-5P	97.24	68.54	543
HSA-MIR-6718-5P	97.24	68.15	553

Literature-anchored findings (GeneRIF, showing 7)

• A rat homologous protein was among the the nuclear proteins that change in abundance or form in response to prolonged hypoxia in the rat kidney fibroblasts. (PMID:15942958)
• MNS1 deficiency in humans causes laterality defects (situs inversus) and likely male infertility, and that MNS1 plays a role in the outer dynein arm-docking complex assembly. (PMID:30148830)
• MNS1 variant associated with situs inversus and male infertility. (PMID:31534215)
• A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans. (PMID:33037173)
• MNS1 promotes hepatocarcinogenesis and metastasis via activating PI3K/AKT by translocating beta-catenin and predicts poor prognosis. (PMID:33506565)
• Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement. (PMID:38920647)
• Cloning and functional characterization of a highly similar gene in mouse. (PMID:8032679)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mns1	ENSDARG00000060169
mus_musculus	Mns1	ENSMUSG00000032221
rattus_norvegicus	Mns1	ENSRNOG00000057867

Protein

Protein identifiers

Meiosis-specific nuclear structural protein 1 — Q8NEH6 (reviewed: Q8NEH6)

All UniProt accessions (1): Q8NEH6

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis. Required for sperm flagella assembly. May play a role in the assembly and function of the outer dynein arm-docking complex (ODA-DC). ODA-DC mediates outer dynein arms (ODA) binding onto the axonemal doublet microtubules.

Subunit / interactions. Able to form oligomers. Microtubule inner protein component of sperm flagellar doublet microtubules. Interacts with ODAD1. Interacts with BBOF1. Interacts with CFAP65.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme.

Tissue specificity. Expressed in nasal respiratory epithelium and in the sperm.

Disease relevance. Heterotaxy, visceral, 9, autosomal, with male infertility (HTX9) [MIM:618948] A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the MNS1 family.

RefSeq proteins (1): NP_060835* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026504	MNS1	Family
IPR043597	TPH_dom	Domain

Pfam: PF13868

UniProt features (10 total): sequence variant 6, chain 1, region of interest 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7UNG	ELECTRON MICROSCOPY	3.6
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NEH6-F1	81.92	0.35

Functional residue map

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

Post-translational modifications (1): 188

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 240 (showing top): GOBP_AXIS_SPECIFICATION, SEMBA_FHIT_TARGETS_DN, FISCHER_G1_S_CELL_CYCLE, GOBP_MALE_GAMETE_GENERATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, GOBP_LEFT_RIGHT_AXIS_SPECIFICATION, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM

GO Biological Process (7): sperm axoneme assembly (GO:0007288), flagellated sperm motility (GO:0030317), cilium organization (GO:0044782), positive regulation of cilium assembly (GO:0045724), meiotic cell cycle (GO:0051321), left/right axis specification (GO:0070986), spermatogenesis (GO:0007283)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (20): nuclear envelope (GO:0005635), nucleoplasm (GO:0005654), centriole (GO:0005814), cytosol (GO:0005829), axonemal microtubule (GO:0005879), intermediate filament (GO:0005882), cilium (GO:0005929), axoneme (GO:0005930), nuclear speck (GO:0016607), motile cilium (GO:0031514), perinuclear theca (GO:0033011), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), sperm end piece (GO:0097229), axonemal A tubule inner sheath (GO:0160111), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995), polymeric cytoskeletal fiber (GO:0099513)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
cytoskeleton	3
developmental process involved in reproduction	2
microtubule organizing center	2
intracellular membraneless organelle	2
cilium	2
axoneme assembly	1
sperm flagellum assembly	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
organelle organization	1
plasma membrane bounded cell projection organization	1
cilium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
regulation of cilium assembly	1
positive regulation of organelle assembly	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
axis specification	1
left/right pattern formation	1
male gamete generation	1
protein binding	1
binding	1
nucleus	1
endomembrane system	1
organelle envelope	1
nuclear lumen	1
cytoplasm	1
cytoplasmic microtubule	1
axoneme	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
microtubule	1
ciliary plasm	1

Protein interactions and networks

STRING

1526 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MNS1	LMNB1	P20700	841
MNS1	ODF2	Q5BJF6	697
MNS1	MFN2	O95140	689
MNS1	ODAD1	Q96M63	641
MNS1	RER1	O15258	631
MNS1	MAN1B1	Q9UKM7	605
MNS1	CCDC63	Q8NA47	565
MNS1	EDEM1	Q92611	492
MNS1	EDEM2	Q9BV94	487
MNS1	DRC9	Q9H095	472
MNS1	UGGT1	Q9NYU2	468
MNS1	SEC63	Q9UGP8	463
MNS1	CFAP53	Q96M91	455
MNS1	MOGS	Q13724	437
MNS1	EDEM3	Q9BZQ6	433

IntAct

102 interactions, top by confidence:

A	B	Type	Score
	MNS1	psi-mi:“MI:0915”(physical association)	0.560
MNS1		psi-mi:“MI:0915”(physical association)	0.560
MNS1	AATF	psi-mi:“MI:0915”(physical association)	0.560
MNS1	KANK2	psi-mi:“MI:0915”(physical association)	0.560
MNS1	TTC23	psi-mi:“MI:0915”(physical association)	0.560
MNS1	ZGPAT	psi-mi:“MI:0915”(physical association)	0.560
MNS1	TNNI2	psi-mi:“MI:0915”(physical association)	0.560
MNS1	CCND3	psi-mi:“MI:0915”(physical association)	0.560
KANK2	MNS1	psi-mi:“MI:0915”(physical association)	0.560
CDR2	MNS1	psi-mi:“MI:0915”(physical association)	0.560
TTC23	MNS1	psi-mi:“MI:0915”(physical association)	0.560
FCHSD2	MNS1	psi-mi:“MI:0915”(physical association)	0.560
ZGPAT	MNS1	psi-mi:“MI:0915”(physical association)	0.560
KRT34	MNS1	psi-mi:“MI:0915”(physical association)	0.560
MNS1	CEP63	psi-mi:“MI:0915”(physical association)	0.560
KIAA0753	MNS1	psi-mi:“MI:0915”(physical association)	0.560
MNS1	KRT75	psi-mi:“MI:0915”(physical association)	0.560
MNS1	DISC1	psi-mi:“MI:0915”(physical association)	0.560
USHBP1	MNS1	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	MNS1	psi-mi:“MI:0915”(physical association)	0.560
MNS1	TRIM54	psi-mi:“MI:0915”(physical association)	0.560
MNS1	RSPH14	psi-mi:“MI:0915”(physical association)	0.560
TXLNB	MNS1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (41): MNS1 (Two-hybrid), MNS1 (Two-hybrid), MNS1 (Co-fractionation), MNS1 (Affinity Capture-MS), MNS1 (Affinity Capture-MS), HSF1 (Affinity Capture-MS), MNS1 (Two-hybrid), MNS1 (Two-hybrid), MNS1 (Two-hybrid), MNS1 (Two-hybrid), MNS1 (Two-hybrid), MNS1 (Two-hybrid), MNS1 (Two-hybrid), MNS1 (Two-hybrid), MNS1 (Two-hybrid)

ESM2 similar proteins: A0A0R4IFG5, A0A480NP79, A0A974E306, A0AUT1, A0JLY1, A4IJ21, A5A6J4, A8I9E8, A8IRJ7, A8IUG5, E1BJL9, F1N7G5, M0R3K6, M1V4Y8, O95990, Q0VC09, Q0VFZ6, Q17QH9, Q1RM03, Q2KI00, Q2KIQ2, Q32LH1, Q3TGF2, Q3TVW5, Q4R698, Q4R7T8, Q4R8Y5, Q5NVP3, Q5RE49, Q5U4F3, Q5XIN9, Q61884, Q6AXN9, Q6AXQ8, Q6AYL4, Q6PBA8, Q6ZN84, Q78TU8, Q8BRC6, Q8N443

Diamond homologs: A4IJ21, Q2KIQ2, Q4R7T8, Q61884, Q6AXQ8, Q6PBA8, Q8NEH6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	5
Uncertain significance	66
Likely benign	7
Benign	3

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
3024123	NM_018365.4(MNS1):c.605dup (p.Gln203fs)	Pathogenic
3024124	NM_018365.4(MNS1):c.68_69delinsAG (p.Cys23Ter)	Pathogenic
1709310	NM_018365.4(MNS1):c.538C>T (p.Arg180Ter)	Likely pathogenic
2775454	NM_018365.4(MNS1):c.675AGA[1] (p.Glu226del)	Likely pathogenic
3044659	NM_018365.4(MNS1):c.232G>T (p.Glu78Ter)	Likely pathogenic
3779883	NM_018365.4(MNS1):c.508dup (p.Ile170fs)	Likely pathogenic
635005	NM_018365.4(MNS1):c.407_410del (p.Glu136fs)	Likely pathogenic

SpliceAI

1807 predictions. Top by Δscore:

Variant	Effect	Δscore
15:56428458:G:GG	donor_gain	1.0000
15:56428474:G:GG	donor_gain	1.0000
15:56429190:CTCC:C	acceptor_gain	1.0000
15:56431368:CTTA:C	donor_gain	1.0000
15:56431369:TTACT:T	donor_loss	1.0000
15:56431371:A:AC	donor_gain	1.0000
15:56431371:ACTTT:A	donor_loss	1.0000
15:56431372:C:CT	donor_gain	1.0000
15:56431494:CGTTG:C	acceptor_gain	1.0000
15:56431495:GTTG:G	acceptor_gain	1.0000
15:56431496:TTG:T	acceptor_gain	1.0000
15:56431496:TTGC:T	acceptor_loss	1.0000
15:56431497:TG:T	acceptor_gain	1.0000
15:56431498:GC:G	acceptor_loss	1.0000
15:56431499:C:CC	acceptor_gain	1.0000
15:56431499:C:T	acceptor_loss	1.0000
15:56431508:C:CT	acceptor_gain	1.0000
15:56434132:TCTTA:T	donor_loss	1.0000
15:56434133:CTTA:C	donor_loss	1.0000
15:56434134:TTA:T	donor_loss	1.0000
15:56434135:TACTT:T	donor_loss	1.0000
15:56434136:A:AC	donor_gain	1.0000
15:56434136:AC:A	donor_loss	1.0000
15:56434137:C:A	donor_loss	1.0000
15:56434137:C:CA	donor_gain	1.0000
15:56434137:CT:C	donor_gain	1.0000
15:56434137:CTTT:C	donor_gain	1.0000
15:56443428:A:AC	donor_gain	1.0000
15:56443429:C:CC	donor_gain	1.0000
15:56443464:T:TA	donor_gain	1.0000

AlphaMissense

3371 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:56446914:A:G	L128S	0.981
15:56431416:A:G	L451P	0.974
15:56434163:C:G	R415P	0.972
15:56446906:C:G	A131P	0.972
15:56464037:C:G	A72P	0.972
15:56434244:C:G	R388P	0.970
15:56446905:G:T	A131D	0.966
15:56431380:A:G	L463P	0.965
15:56446861:C:G	A146P	0.964
15:56431401:G:T	A456D	0.963
15:56446885:C:G	A138P	0.963
15:56446943:G:C	S118R	0.963
15:56446943:G:T	S118R	0.963
15:56456395:T:G	S118R	0.963
15:56431413:A:G	L452P	0.961
15:56446892:T:A	K135N	0.955
15:56446892:T:G	K135N	0.955
15:56431424:C:A	R448S	0.954
15:56431424:C:G	R448S	0.954
15:56431402:C:G	A456P	0.952
15:56446935:A:G	L121P	0.952
15:56434188:C:G	A407P	0.950
15:56446882:C:G	A139P	0.950
15:56446926:A:G	L124S	0.950
15:56434175:A:G	L411P	0.948
15:56431392:A:G	L459S	0.943
15:56456412:T:G	Q112P	0.941
15:56456521:C:G	A76P	0.940
15:56434227:C:G	A394P	0.939
15:56434308:C:G	A367P	0.936

dbSNP variants (sampled 300 via entrez): RS1000081094 (15:56430176 A>C), RS1000102824 (15:56439771 A>G), RS1000135877 (15:56436313 C>T), RS1000208409 (15:56436166 C>T), RS1000379273 (15:56466285 G>C,T), RS1000819511 (15:56440641 G>A), RS1001012606 (15:56453097 G>A), RS1001067075 (15:56460123 G>A), RS1001106159 (15:56440861 A>C), RS1001345145 (15:56453445 G>T), RS1001452168 (15:56466329 G>A), RS1001710547 (15:56436813 T>A), RS1001925965 (15:56430788 C>T), RS1002021386 (15:56435664 G>A), RS1002073873 (15:56435873 G>A)

Disease associations

OMIM: gene MIM:610766 | disease phenotypes: MIM:618948

GenCC curated gene-disease

Disease	Classification	Inheritance
heterotaxy, visceral, 9, autosomal, with male infertility	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
primary ciliary dyskinesia	Disputed	AR

Mondo (2): heterotaxy, visceral, 9, autosomal, with male infertility (MONDO:0030070), situs inversus (MONDO:0010029)

Orphanet (1): Situs inversus totalis (Orphanet:101063)

HPO phenotypes

7 total (7 of 7 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000403	Recurrent otitis media
HP:0001651	Dextrocardia
HP:0001696	Situs inversus totalis
HP:0001746	Asplenia
HP:0003251	Male infertility
HP:0030674	Antenatal onset

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST002073_19	Chronic lymphocytic leukemia	2.000000e-13
GCST002183_9	Relative hand skill in reading disability	4.000000e-06
GCST002595_8	Clozapine-induced agranulocytosis	9.000000e-07
GCST003468_15	Chronic lymphocytic leukemia	2.000000e-13
GCST007483_47	Waist-to-hip ratio adjusted for BMI (additive genetic model)	9.000000e-11
GCST007487_11	Waist-to-hip ratio adjusted for BMI (additive genetic model)	2.000000e-10
GCST007500_14	Waist-to-hip ratio adjusted for BMI (additive genetic model)	7.000000e-10
GCST007502_9	Waist-to-hip ratio adjusted for BMI (additive genetic model)	4.000000e-09
GCST008962_7	Hematology traits	1.000000e-08
GCST008962_8	Hematology traits	2.000000e-08
GCST90002403_481	Red blood cell count	3.000000e-10
GCST90020024_485	A body shape index	2.000000e-09
GCST90020024_488	A body shape index	4.000000e-09
GCST90020024_489	A body shape index	8.000000e-09
GCST90020025_127	Waist-to-hip ratio adjusted for BMI	3.000000e-09
GCST90020025_128	Waist-to-hip ratio adjusted for BMI	2.000000e-16
GCST90020025_131	Waist-to-hip ratio adjusted for BMI	3.000000e-08
GCST90020025_132	Waist-to-hip ratio adjusted for BMI	6.000000e-09
GCST90020025_144	Waist-to-hip ratio adjusted for BMI	9.000000e-14
GCST90020027_632	Waist-hip index	7.000000e-14
GCST90020027_633	Waist-hip index	9.000000e-10
GCST90020027_634	Waist-hip index	6.000000e-17
GCST90020027_637	Waist-hip index	1.000000e-08
GCST90020027_638	Waist-hip index	4.000000e-09
GCST90020029_293	Waist circumference adjusted for body mass index	5.000000e-12
GCST90020029_294	Waist circumference adjusted for body mass index	3.000000e-16
GCST90020029_295	Waist circumference adjusted for body mass index	3.000000e-10
GCST90020029_297	Waist circumference adjusted for body mass index	2.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0009902	handedness
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0004305	erythrocyte count
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D012857	Situs Inversus	C16.131.810

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067341 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.45	Kd	351.7	nM	CHEMBL5653589
6.45	ED50	351.7	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148761: Binding affinity to human MNS1 incubated for 45 mins by Kinobead based pull down assay	kd	0.3517	uM

CTD chemical–gene interactions

55 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
Cyclosporine	decreases expression, increases methylation	4
trichostatin A	affects cotreatment, increases expression	3
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, decreases expression	3
sodium arsenite	decreases expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
Benzo(a)pyrene	increases expression, decreases expression	2
Aflatoxin B1	affects expression, increases methylation	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	decreases expression	1
bisphenol A	increases methylation	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
phenethyl isothiocyanate	decreases expression	1
cylindrospermopsin	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
licochalcone B	decreases expression	1
incobotulinumtoxinA	decreases expression	1
NSC 689534	decreases expression, affects binding	1
(+)-JQ1 compound	decreases expression	1
Oxaliplatin	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651803	Binding	Binding affinity to human MNS1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease