MOSPD2

Summary

MOSPD2 (motile sperm domain containing 2, HGNC:28381) is a protein-coding gene on chromosome Xp22.2, encoding Motile sperm domain-containing protein 2 (Q8NHP6). Endoplasmic reticulum-anchored protein that mediates the formation of contact sites between the endoplasmic (ER) and endosomes, mitochondria or Golgi through interaction with conventional- and phosphorylated-FFAT-containing organelle-bound proteins.

Enables FFAT motif binding activity. Involved in lipid droplet formation; positive regulation of leukocyte chemotaxis; and protein homooligomerization. Located in endoplasmic reticulum membrane; endoplasmic reticulum-endosome membrane contact site; and plasma membrane.

Source: NCBI Gene 158747 — RefSeq curated summary.

At a glance

• Gene–disease (curated): male infertility with azoospermia or oligozoospermia due to single gene mutation (Limited, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 154 total
• MANE Select transcript: NM_152581

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28381
Approved symbol	MOSPD2
Name	motile sperm domain containing 2
Location	Xp22.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC26706
Ensembl gene	ENSG00000130150
Ensembl biotype	protein_coding
OMIM	301086
Entrez	158747

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000380492, ENST00000460386, ENST00000461777, ENST00000482354, ENST00000495110, ENST00000497603, ENST00000872213, ENST00000872214, ENST00000934966

RefSeq mRNA: 3 — MANE Select: NM_152581 NM_001177475, NM_001330241, NM_152581

CCDS: CCDS14162, CCDS83457

Canonical transcript exons

ENST00000380492 — 15 exons

Exon	Start	End
ENSE00001485180	14919672	14922327
ENSE00001485203	14873421	14873537
ENSE00003467935	14915668	14915764
ENSE00003492122	14911237	14911413
ENSE00003513474	14912249	14912361
ENSE00003514573	14908860	14908984
ENSE00003538541	14918680	14918782
ENSE00003546670	14902966	14903004
ENSE00003557227	14900575	14900635
ENSE00003558700	14916197	14916326
ENSE00003566016	14897084	14897238
ENSE00003567066	14914503	14914599
ENSE00003597145	14895308	14895394
ENSE00003622007	14873689	14873758
ENSE00003649062	14892723	14892878

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 94.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.7883 / max 354.5567, expressed in 1773 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
195599	15.6234	1764
195600	1.7068	921
195601	0.4581	233

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	94.37	gold quality
corpus callosum	UBERON:0002336	93.40	gold quality
inferior vagus X ganglion	UBERON:0005363	92.85	gold quality
monocyte	CL:0000576	92.04	gold quality
mononuclear cell	CL:0000842	91.93	gold quality
leukocyte	CL:0000738	91.45	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.34	gold quality
spinal cord	UBERON:0002240	90.89	gold quality
subthalamic nucleus	UBERON:0001906	90.57	gold quality
oocyte	CL:0000023	89.31	gold quality
visceral pleura	UBERON:0002401	88.25	gold quality
blood	UBERON:0000178	88.16	gold quality
decidua	UBERON:0002450	87.90	gold quality
pons	UBERON:0000988	87.04	gold quality
pleura	UBERON:0000977	86.27	gold quality
superior vestibular nucleus	UBERON:0007227	85.86	gold quality
medulla oblongata	UBERON:0001896	85.85	gold quality
dorsal plus ventral thalamus	UBERON:0001897	85.77	gold quality
upper leg skin	UBERON:0004262	85.71	gold quality
ventral tegmental area	UBERON:0002691	85.41	gold quality
parietal pleura	UBERON:0002400	85.32	gold quality
substantia nigra pars reticulata	UBERON:0001966	85.29	gold quality
lateral globus pallidus	UBERON:0002476	84.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.72	gold quality
stromal cell of endometrium	CL:0002255	84.50	gold quality
gall bladder	UBERON:0002110	84.29	gold quality
midbrain	UBERON:0001891	83.90	gold quality
substantia nigra	UBERON:0002038	83.58	gold quality
adrenal tissue	UBERON:0018303	83.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.95	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-97	yes	241.00
E-ANND-3	yes	5.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

86 targeting MOSPD2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4307	99.82	70.45	3374

Literature-anchored findings (GeneRIF, showing 3)

• this study shows that silencing MOSPD2 inhibited signaling events following chemokine receptor ligation and monocyte migration induced by chemokines (PMID:28137892)
• Thus, we characterized here MOSPD2, a novel tethering component related to VAP proteins(VAP-A and VAP-B), bridging the endoplasmic reticulum with a variety of distinct organelles. (PMID:29858488)
• Results indicate that motile sperm domain containing 2 (MOSPD2) plays a key role in the migration and metastasis of breast cancer cells and may be used to prevent the spreading of breast cancer cells and to mediate their death. (PMID:29978511)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mospd2	ENSDARG00000026024
mus_musculus	Mospd2	ENSMUSG00000061778
rattus_norvegicus	Mospd2	ENSRNOG00000003350
drosophila_melanogaster	CG32407	FBGN0052407
drosophila_melanogaster	CG33523	FBGN0053523
caenorhabditis_elegans		WBGENE00015148

Protein

Protein identifiers

Motile sperm domain-containing protein 2 — Q8NHP6 (reviewed: Q8NHP6)

All UniProt accessions (4): Q8NHP6, R4GMN1, R4GMW5, R4GNB6

UniProt curated annotations — full annotation on UniProt →

Function. Endoplasmic reticulum-anchored protein that mediates the formation of contact sites between the endoplasmic (ER) and endosomes, mitochondria or Golgi through interaction with conventional- and phosphorylated-FFAT-containing organelle-bound proteins. In addition, forms endoplasmic reticulum (ER)-lipid droplets (LDs) contacts through a direct protein-membrane interaction and participates in LDs homeostasis. The attachment mechanism involves an amphipathic helix that has an affinity for lipid packing defects present at the surface of LDs. Promotes migration of primary monocytes and neutrophils, in response to various chemokines.

Subunit / interactions. Homooligomer. Interacts (via MSP domain) with STARD3NL (via FFAT motif), RMDN3 (via FFAT motif), OSBPL1A (via FFAT motif) and CERT1 (via FFAT motif). Interacts (via MSP domain) with STARD3 (via phosphorylated FFAT motif); this interaction depends on the critical phosphorylation of STARD3 on ‘Ser-209’. Interacts with RB1CC1 (via phosphorylated FFAT motif), MIGA2 (via phosphorylated FFAT motif) and OSBPL1A (via FFAT motif).

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Highly expressed in CD14(+) monocytes, and at lower levels in neutrophils. Does not show significant expression in B-cells or T-cells.

Domain organisation. The MSP domain is required for binding to the FFAT motif of target proteins. The CRAL-TRIO domain is necessary for the recruitment to lipid droplets (LDs) and mediates the formation of ER-LDs contacts through an amphipathic helix. The transmembrane domain is necessary for binding to LDs.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NHP6-1	1	yes
Q8NHP6-2	2

RefSeq proteins (3): NP_001170946, NP_001317170, NP_689794* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000535	MSP_dom	Domain
IPR001251	CRAL-TRIO_dom	Domain
IPR008962	PapD-like_sf	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036273	CRAL/TRIO_N_dom_sf	Homologous_superfamily
IPR036865	CRAL-TRIO_dom_sf	Homologous_superfamily
IPR053012	ER-organelle_contact	Family

Pfam: PF00635, PF00650

UniProt features (29 total): strand 9, mutagenesis site 5, helix 2, domain 2, region of interest 2, site 2, chain 1, topological domain 1, splice variant 1, sequence variant 1, transmembrane region 1, turn 1, compositionally biased region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6TQT	X-RAY DIFFRACTION	1.5
6TQS	X-RAY DIFFRACTION	2.25
6TQU	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NHP6-F1	81.06	0.60

Functional residue map

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

Catalytic / active sites (2): 363 (required for phosphorylated ffat motif binding); 374 (required for ffat motif binding)

Mutagenesis-validated functional residues (5):

Position	Phenotype
201	does not affect endoplasmic reticulum distribution. does not impair the folding of the cral-trio domain. decreases lipid
363	partially affects the binding of the ffat motif of osbpl1a. partially affects the binding of the phosphorylated ffat mot
404	prevents binding to the ffat motif of target proteins stard3, stard3nl, rmdn3, osbpl1a and cert1 and impairs recruitment
406	prevents binding to the ffat motif of target proteins stard3, stard3nl, rmdn3, osbpl1a and cert1 and impairs recruitment
493–518	loss of localization to endoplasmic reticulum membrane.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-9013405	RHOD GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 160 (showing top): AHRARNT_01, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOCC_SECRETORY_GRANULE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, CEBPB_01, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_TAXIS, GOBP_LEUKOCYTE_MIGRATION

GO Biological Process (5): chemotaxis (GO:0006935), protein homooligomerization (GO:0051260), positive regulation of neutrophil chemotaxis (GO:0090023), positive regulation of monocyte chemotaxis (GO:0090026), lipid droplet formation (GO:0140042)

GO Molecular Function (2): FFAT motif binding (GO:0033149), protein binding (GO:0005515)

GO Cellular Component (8): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020), specific granule membrane (GO:0035579), organelle membrane contact site (GO:0044232), endoplasmic reticulum-endosome membrane contact site (GO:0140284)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Innate Immune System	1
RHO GTPase cycle	1
Immune System	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
response to chemical	1
taxis	1
protein complex oligomerization	1
neutrophil chemotaxis	1
positive regulation of granulocyte chemotaxis	1
regulation of neutrophil chemotaxis	1
positive regulation of neutrophil migration	1
monocyte chemotaxis	1
positive regulation of leukocyte chemotaxis	1
positive regulation of mononuclear cell migration	1
regulation of monocyte chemotaxis	1
lipid storage	1
lipid droplet organization	1
membraneless organelle assembly	1
protein domain specific binding	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
vacuole	1
plasma membrane	1
secretory granule membrane	1
specific granule	1
organelle	1
organelle membrane contact site	1

Protein interactions and networks

STRING

1152 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MOSPD2	RMDN3	Q96TC7	898
MOSPD2	STARD3	Q14849	744
MOSPD2	MOSPD1	Q9UJG1	703
MOSPD2	VAPA	Q9P0L0	648
MOSPD2	MOSPD3	O75425	641
MOSPD2	STARD3NL	O95772	582
MOSPD2	LEAP2	Q969E1	574
MOSPD2	FIS1	Q9Y3D6	564
MOSPD2	ASB9	Q96DX5	504
MOSPD2	OSBP	P22059	487
MOSPD2	MAGEB17	A8MXT2	475
MOSPD2	CA5B	Q9Y2D0	473
MOSPD2	CKAP4	Q07065	465
MOSPD2	GPN3	Q9UHW5	459
MOSPD2	FANCB	Q8NB91	458

IntAct

122 interactions, top by confidence:

A	B	Type	Score
OSBPL1A	VAPB	psi-mi:“MI:0914”(association)	0.760
LSMEM2	STX7	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
OSBPL1A	MOSPD2	psi-mi:“MI:0407”(direct interaction)	0.670
OSBPL1A	MOSPD2	psi-mi:“MI:0915”(physical association)	0.670
OSBPL1A	MOSPD2	psi-mi:“MI:0403”(colocalization)	0.670
STARD3NL	MOSPD2	psi-mi:“MI:0915”(physical association)	0.660
STARD3NL	MOSPD2	psi-mi:“MI:0403”(colocalization)	0.660
FASLG	PRMT2	psi-mi:“MI:0914”(association)	0.640
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
STARD3	MOSPD2	psi-mi:“MI:0915”(physical association)	0.600
STARD3	MOSPD2	psi-mi:“MI:0403”(colocalization)	0.600
BTN1A1	MOSPD2	psi-mi:“MI:0915”(physical association)	0.560
RMDN3	MOSPD2	psi-mi:“MI:0915”(physical association)	0.540
RMDN3	MOSPD2	psi-mi:“MI:0403”(colocalization)	0.540
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
ZACN	GPAA1	psi-mi:“MI:0914”(association)	0.530

BioGRID (168): MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Proximity Label-MS), MOSPD2 (Proximity Label-MS), MOSPD2 (Proximity Label-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS)

ESM2 similar proteins: A0JN86, A2AHJ4, A2APV2, A2AQW0, A9JRL3, B3DK16, O08874, O35099, P0CF52, P19447, P23798, P25916, P32866, P35226, P35227, P49135, Q07139, Q1JPS1, Q1RMT1, Q21029, Q28H21, Q2YDF9, Q32KX7, Q3UK78, Q4QR06, Q5R8L2, Q5RA62, Q5SDR3, Q5ZKK7, Q640D5, Q6DD21, Q6DLV9, Q6GN16, Q6RI45, Q6ZN16, Q7T3E6, Q7Z569, Q7ZYZ7, Q86SE9, Q8BPM2

Diamond homologs: A2VDZ9, A5GFS8, O60119, O82213, O95292, P40075, Q0VCY1, Q10484, Q16943, Q5R601, Q6Q595, Q84WW5, Q8NHP6, Q8VZ95, Q9LVU1, Q9P0L0, Q9QY76, Q9SHC8, Q9SYC9, Q9WV55, Q9Z269, Q9Z270, B9DHD7, Q9CWP6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 126 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
Glucagon signaling in metabolic regulation	5	21.9×	3e-04
ADORA2B mediated anti-inflammatory cytokines production	6	19.3×	1e-04
GPER1 signaling	6	18.9×	1e-04
G alpha (z) signalling events	6	17.7×	1e-04
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion	5	16.8×	5e-04
Vasopressin regulates renal water homeostasis via Aquaporins	5	16.8×	5e-04
Extra-nuclear estrogen signaling	6	12.9×	5e-04
High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells	6	12.2×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
cholesterol transport	5	34.2×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1939 predictions. Top by Δscore:

Variant	Effect	Δscore
X:14873535:GAG:G	donor_gain	1.0000
X:14892720:TAG:T	acceptor_loss	1.0000
X:14892721:A:AG	acceptor_gain	1.0000
X:14892722:G:GG	acceptor_gain	1.0000
X:14892722:GAT:G	acceptor_gain	1.0000
X:14892722:GATA:G	acceptor_gain	1.0000
X:14892860:A:T	donor_gain	1.0000
X:14892876:ATGG:A	donor_loss	1.0000
X:14892878:GGTA:G	donor_loss	1.0000
X:14892879:G:GG	donor_gain	1.0000
X:14892880:T:G	donor_loss	1.0000
X:14897075:T:TA	acceptor_gain	1.0000
X:14897082:A:AG	acceptor_gain	1.0000
X:14897083:G:GG	acceptor_gain	1.0000
X:14897234:GCATT:G	donor_gain	1.0000
X:14897239:G:GG	donor_gain	1.0000
X:14908859:GCT:G	acceptor_gain	1.0000
X:14908985:G:GG	donor_gain	1.0000
X:14911234:TA:T	acceptor_loss	1.0000
X:14911234:TAGGA:T	acceptor_gain	1.0000
X:14911235:A:AC	acceptor_loss	1.0000
X:14911235:A:AG	acceptor_gain	1.0000
X:14911235:AG:A	acceptor_gain	1.0000
X:14911236:G:GT	acceptor_gain	1.0000
X:14911236:GG:G	acceptor_gain	1.0000
X:14911236:GGA:G	acceptor_gain	1.0000
X:14911236:GGAT:G	acceptor_gain	1.0000
X:14911236:GGATC:G	acceptor_gain	1.0000
X:14911412:AGGT:A	donor_loss	1.0000
X:14911413:GGTA:G	donor_loss	1.0000

AlphaMissense

3470 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:14915699:T:A	V374D	1.000
X:14916224:T:C	F405S	1.000
X:14892858:G:C	R72T	0.999
X:14892859:G:C	R72S	0.999
X:14892859:G:T	R72S	0.999
X:14914597:A:G	K363E	0.999
X:14914599:G:C	K363N	0.999
X:14914599:G:T	K363N	0.999
X:14915692:T:G	Y372D	0.999
X:14915693:A:C	Y372S	0.999
X:14916227:T:C	L406P	0.999
X:14892845:A:C	S68R	0.998
X:14892847:T:A	S68R	0.998
X:14892847:T:G	S68R	0.998
X:14908863:C:A	A194D	0.998
X:14908962:T:C	L227P	0.998
X:14912352:T:C	L328P	0.998
X:14914559:T:A	I350K	0.998
X:14914592:C:A	A361E	0.998
X:14915680:G:C	A368P	0.998
X:14915744:T:A	I389K	0.998
X:14915750:T:A	V391E	0.998
X:14916221:G:C	R404P	0.998
X:14916230:T:A	I407K	0.998
X:14916235:G:C	A409P	0.998
X:14916238:G:C	A410P	0.998
X:14916289:T:A	W427R	0.998
X:14916289:T:C	W427R	0.998
X:14892854:T:A	W71R	0.997
X:14892854:T:C	W71R	0.997

dbSNP variants (sampled 300 via entrez): RS1000451219 (X:14908274 A>C), RS1000475809 (X:14877598 C>T), RS1000700538 (X:14890229 C>G), RS1000843442 (X:14878115 A>T), RS1000884179 (X:14904741 G>A), RS1000932251 (X:14918491 A>C), RS1001114371 (X:14890800 A>G), RS1001146758 (X:14897953 T>C), RS1001361894 (X:14919100 C>T), RS1001408130 (X:14873140 A>C), RS1001440332 (X:14887571 C>G,T), RS1001455970 (X:14873010 A>C,G), RS1001494587 (X:14897578 C>T), RS1001568779 (X:14882594 T>C), RS1001822126 (X:14902738 C>T)

Disease associations

OMIM: gene MIM:301086 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
male infertility with azoospermia or oligozoospermia due to single gene mutation	Limited	X-linked

Mondo (1): (MONDO:0018393)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST004582_2	Waist-to-hip circumference ratio (dietary energy interaction)	5.000000e-07
GCST008156_114	Hip circumference adjusted for BMI	2.000000e-06
GCST011348_62	High density lipoprotein cholesterol levels	2.000000e-10
GCST90002389_494	Lymphocyte percentage of white cells	2.000000e-12
GCST90002398_32	Neutrophil count	1.000000e-09
GCST90002399_108	Neutrophil percentage of white cells	2.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004343	waist-hip ratio
EFO:0008111	diet measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	4
Valproic Acid	affects expression, decreases expression, decreases methylation, increases expression	3
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	increases abundance, increases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
NSC 689534	affects binding, increases expression	1
Decitabine	affects expression	1
Sunitinib	increases expression	1
Norethindrone Acetate	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects expression	1
Clorgyline	increases expression	1
Copper	affects binding, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Manganese	increases abundance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1
Phthalic Acids	increases methylation	1
Tretinoin	increases expression	1

Clinical trials (associated diseases)

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