MMRN1

Summary

MMRN1 (multimerin 1, HGNC:7178) is a protein-coding gene on chromosome 4q22.1, encoding Multimerin-1 (Q13201). Carrier protein for platelet (but not plasma) factor V/Va.

Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin.

Source: NCBI Gene 22915 — RefSeq curated summary.

At a glance

• Gene–disease (curated): male infertility with azoospermia or oligozoospermia due to single gene mutation (Moderate, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 201 total
• MANE Select transcript: NM_007351

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7178
Approved symbol	MMRN1
Name	multimerin 1
Location	4q22.1
Locus type	gene with protein product
Status	Approved
Aliases	ECM, EMILIN4, GPIa*
Ensembl gene	ENSG00000138722
Ensembl biotype	protein_coding
OMIM	601456
Entrez	22915

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000264790, ENST00000394980, ENST00000506328, ENST00000508372, ENST00000877494, ENST00000877495, ENST00000955234

RefSeq mRNA: 3 — MANE Select: NM_007351 NM_001371403, NM_001410735, NM_007351

CCDS: CCDS3635, CCDS93560

Canonical transcript exons

ENST00000264790 — 8 exons

Exon	Start	End
ENSE00001003940	89923168	89923272
ENSE00001003943	89951605	89951751
ENSE00001003944	89894854	89895594
ENSE00001071501	89934810	89936798
ENSE00001071503	89927795	89927968
ENSE00001236604	89952997	89954614
ENSE00003662925	89909276	89909395
ENSE00003690869	89911944	89912050

Expression profiles

Bgee: expression breadth ubiquitous, 208 present calls, max score 91.81.

FANTOM5 (CAGE): breadth broad, TPM avg 10.9851 / max 1365.2109, expressed in 447 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48847	4.6885	269
48849	3.7726	258
48842	0.9933	124
48848	0.9188	174
48840	0.0931	45
48851	0.0793	34
48843	0.0657	39
48844	0.0657	40
48841	0.0632	34
48852	0.0456	21

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pericardium	UBERON:0002407	91.81	gold quality
right lobe of thyroid gland	UBERON:0001119	91.69	gold quality
left uterine tube	UBERON:0001303	91.57	gold quality
gall bladder	UBERON:0002110	90.27	gold quality
left lobe of thyroid gland	UBERON:0001120	90.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.72	gold quality
decidua	UBERON:0002450	89.34	gold quality
ectocervix	UBERON:0012249	89.13	gold quality
thyroid gland	UBERON:0002046	88.58	gold quality
calcaneal tendon	UBERON:0003701	87.30	gold quality
endocervix	UBERON:0000458	87.26	gold quality
right lung	UBERON:0002167	86.92	gold quality
rectum	UBERON:0001052	85.65	gold quality
omental fat pad	UBERON:0010414	85.55	gold quality
peritoneum	UBERON:0002358	85.43	gold quality
upper lobe of left lung	UBERON:0008952	85.18	gold quality
body of uterus	UBERON:0009853	85.01	gold quality
urethra	UBERON:0000057	84.90	gold quality
upper lobe of lung	UBERON:0008948	84.86	gold quality
small intestine Peyer’s patch	UBERON:0003454	83.77	gold quality
left coronary artery	UBERON:0001626	83.38	gold quality
islet of Langerhans	UBERON:0000006	83.23	gold quality
adipose tissue of abdominal region	UBERON:0007808	83.16	gold quality
lower lobe of lung	UBERON:0008949	83.05	gold quality
smooth muscle tissue	UBERON:0001135	82.59	gold quality
superficial temporal artery	UBERON:0001614	82.38	gold quality
monocyte	CL:0000576	82.05	gold quality
mucosa of stomach	UBERON:0001199	81.43	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	81.31	gold quality
mononuclear cell	CL:0000842	81.24	gold quality

Single-cell (SCXA)

Detected in 20 experiment(s), a significant marker in 20.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	11586.51
E-CURD-88	yes	4203.55
E-ANND-2	yes	3044.68
E-GEOD-130148	yes	2406.13
E-HCAD-15	yes	1834.38
E-MTAB-8142	yes	1626.61
E-GEOD-135922	yes	1498.08
E-MTAB-6308	yes	855.17
E-CURD-112	yes	504.92
E-GEOD-93593	yes	429.86
E-MTAB-6701	yes	31.12
E-HCAD-1	yes	25.66
E-CURD-46	yes	18.78
E-HCAD-10	yes	16.30
E-MTAB-8410	yes	15.60

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

88 targeting MMRN1, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-8067	99.86	69.59	2260

Literature-anchored findings (GeneRIF, showing 12)

• multimerin 1 has a role in delivering and localizing factor V onto platelets prior to prothrombinase assembly (PMID:15452129)
• disulfide-linked complexes of multimerin and factor V in platelets could be important for modulating the function of platelet factor V and its delivery onto activated platelets (PMID:15583744)
• MMRN1 is a ligand for alphaIIbbeta3 and alphavbeta3 (PMID:16363244)
• The MMRN1 binding site was located in Factor V. (PMID:18452976)
• Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation. (PMID:19132231)
• MMRN1 supported the adhesion of activated, but not resting, washed platelets over a wide range of shear rates (PMID:19175495)
• our studies identify MMRN1 expression as a novel biomarker that may refine acute myelogenous leukemia risk stratification. (PMID:25825478)
• Lower levels of anti-elastin are related to CAD [ coronary artery disease ] (PMID:26446635)
• VWF binding to MMRN1 was enhanced by shear exposure and ristocetin, and required VWF A1A2A3 region, specifically the A1 and A3 domains. (PMID:27052467)
• MMRN1 expression in healthy human palatal mucosa is strongly negatively correlated with serum cotinine levels. (PMID:31682009)
• Analysis of Multimerin 1 (MMRN1) expression in ovarian cancer. (PMID:33263168)
• Multimerin 1 aids in the progression of ovarian cancer possibly via modulation of DNA damage response and repair pathways. (PMID:36723821)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mmrn1	ENSMUSG00000054641
rattus_norvegicus	Mmrn1	ENSRNOG00000024986

Paralogs (4): EMILIN2 (ENSG00000132205), EMILIN1 (ENSG00000138080), MMRN2 (ENSG00000173269), EMILIN3 (ENSG00000183798)

Protein

Protein identifiers

Multimerin-1 — Q13201 (reviewed: Q13201)

Alternative names: EMILIN-4, Elastin microfibril interface located protein 4, Endothelial cell multimerin

All UniProt accessions (2): Q13201, E7EPG1

UniProt curated annotations — full annotation on UniProt →

Function. Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein.

Subunit / interactions. Multimeric. Composed of varying sized, disulfide-linked multimers, the smallest of which is a homotrimer. Proteolysis of the promultimerin in the N-terminal region, leads to the mature p155 form that is stored in platelets. Interacts with factor V/Va.

Subcellular location. Secreted.

Tissue specificity. Synthesized by endothelial cells and megakaryocytes. Stored in platelet alpha granules and endothelial cell Weibel-Palade bodies, following activation of these cells, it is released and attached to megakaryocytes, platelets, endothelium and subendothelium of blood vessels. Not found in plasma. Found in vascular tissues such as placenta, lung, and liver.

Post-translational modifications. The N-terminus is blocked. Extensively N-glycosylated. O-fucosylated within the EMI domain (at Thr-216 and Thr-265) by POFUT3 and POFUT4. O-fucosylation at Thr-216 and Thr-1055 are required for facilitating protein folding and secretion.

Disease relevance. Deficiency in multimerin-1 due to proteolytic degradation within the platelet alpha granules is associated with an autosomal dominant bleeding disorder (factor V Quebec).

Isoforms (2)

UniProt ID	Names	Canonical?
Q13201-1	1	yes
Q13201-2	2

RefSeq proteins (3): NP_001358332, NP_001397664, NP_031377* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR001073	C1q_dom	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR008983	Tumour_necrosis_fac-like_dom	Homologous_superfamily
IPR011489	EMI_domain	Domain
IPR050392	Collagen/C1q_domain	Family

Pfam: PF00008, PF00386, PF07546

UniProt features (63 total): glycosylation site 26, coiled-coil region 6, disulfide bond 6, sequence variant 4, chain 3, compositionally biased region 3, domain 3, mutagenesis site 3, sequence conflict 3, splice variant 2, region of interest 2, signal peptide 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13201-F1	57.34	0.05

Functional residue map

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

Disulfide bonds (6): 211–272, 238–245, 271–280, 1045–1056, 1050–1065, 1067–1076

Glycosylation sites (26): 21, 97, 114, 120, 136, 216, 265, 344, 431, 507, 541, 576, 618, 680, 729, 783, 816, 828, 840, 921 …

Mutagenesis-validated functional residues (3):

Position	Phenotype
216	strongly reduced protein secretion.
265	does not significantly affect protein secretion.
1055	abolishes protein secretion.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-5173105	O-linked glycosylation
R-HSA-109582	Hemostasis
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+

MSigDB gene sets: 204 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_REGULATION_OF_WOUND_HEALING, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_NEGATIVE_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION, GOBP_PLATELET_ACTIVATION, GOBP_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, GOBP_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_REGULATION_OF_PLATELET_AGGREGATION

GO Biological Process (7): cell adhesion (GO:0007155), blood coagulation (GO:0007596), negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948), cell adhesion mediated by integrin (GO:0033627), negative regulation of wound healing (GO:0061045), negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051), positive regulation of platelet aggregation (GO:1901731)

GO Molecular Function (3): calcium ion binding (GO:0005509), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), platelet alpha granule (GO:0031091), platelet alpha granule lumen (GO:0031093), multimerin complex (GO:1990972)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1
Post-translational protein modification	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
wound healing	2
cellular process	1
hemostasis	1
coagulation	1
negative regulation of signal transduction	1
regulation of vascular endothelial growth factor receptor signaling pathway	1
vascular endothelial growth factor receptor signaling pathway	1
negative regulation of cellular response to growth factor stimulus	1
cell adhesion	1
negative regulation of response to external stimulus	1
regulation of wound healing	1
negative regulation of response to wounding	1
cell migration involved in sprouting angiogenesis	1
negative regulation of blood vessel endothelial cell migration	1
regulation of cell migration involved in sprouting angiogenesis	1
positive regulation of homotypic cell-cell adhesion	1
platelet aggregation	1
regulation of platelet aggregation	1
metal ion binding	1
structural molecule activity	1
extracellular matrix	1
binding	1
cellular anatomical structure	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
secretory granule	1
platelet alpha granule	1
secretory granule lumen	1
elastic fiber	1
protein complex involved in cell-matrix adhesion	1
extracellular protein-containing complex	1

Protein interactions and networks

STRING

960 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MMRN1	VWF	P04275	648
MMRN1	F5	P12259	574
MMRN1	SMIM24	O75264	508
MMRN1	ITGA2B	P08514	492
MMRN1	SERPINE1	P05121	479
MMRN1	NYNRIN	Q9P2P1	478
MMRN1	TGFB1	P01137	462
MMRN1	THBS1	P07996	458
MMRN1	VTN	P01141	446
MMRN1	ACTN1	P12814	446
MMRN1	CPXM1	Q96SM3	440
MMRN1	AHSG	P02765	437
MMRN1	IGF1	P01343	428
MMRN1	FN1	P02751	422
MMRN1	TRIB1	Q96RU8	418

IntAct

14 interactions, top by confidence:

A	B	Type	Score
MMRN1	CTSV	psi-mi:“MI:0914”(association)	0.530
MMRN1	ZGRF1	psi-mi:“MI:0915”(physical association)	0.400
MMRN1	H1-2	psi-mi:“MI:0915”(physical association)	0.400
MMRN1	H1-5	psi-mi:“MI:0915”(physical association)	0.400
GATA3	PRMT5	psi-mi:“MI:0914”(association)	0.350
	PLG	psi-mi:“MI:0914”(association)	0.350
	FN1	psi-mi:“MI:0914”(association)	0.350
	SELP	psi-mi:“MI:0914”(association)	0.350
CDKN2A	ACTN4	psi-mi:“MI:0914”(association)	0.350
	CCN1	psi-mi:“MI:0914”(association)	0.350
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CDH5	MYO1C	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (47): CST6 (Affinity Capture-MS), RNASE7 (Affinity Capture-MS), F5 (Affinity Capture-MS), ACPP (Affinity Capture-MS), CTSH (Affinity Capture-MS), CDSN (Affinity Capture-MS), S100A7 (Affinity Capture-MS), ECM1 (Affinity Capture-MS), CTSV (Affinity Capture-MS), APOE (Affinity Capture-MS), KPRP (Affinity Capture-MS), F5 (Affinity Capture-MS), APOE (Affinity Capture-MS), ACPP (Affinity Capture-MS), ECM1 (Affinity Capture-MS)

ESM2 similar proteins: A2VE00, A2VE53, A2XW69, A5PMY6, A6QP79, B2RPV6, F1QC17, F7DP49, O75071, Q07065, Q0II90, Q13201, Q2LK54, Q32L59, Q3UIJ9, Q4V7C8, Q4V885, Q53EZ4, Q5BIX7, Q5EAJ6, Q5EB94, Q5KU26, Q5R6R3, Q5R923, Q5RI56, Q5ZM60, Q61595, Q640L3, Q6AZY7, Q6NRC9, Q6P6L0, Q70UQ0, Q7XU27, Q7Z7B0, Q84VY2, Q8BGQ6, Q8BIS8, Q8BMK4, Q8BT07, Q8BVC4

Diamond homologs: A6H6E2, F1QC17, P59900, Q13201, Q8K482, Q91VF6, Q96A83, Q96A84, Q99K41, Q9BXX0, Q9H8L6, Q9NT22, Q9Y6C2, B2RPV6, Q5RJ80, Q8BVD7, Q91VF5, Q9BXJ2, Q9W332, A0A060WQA3, A5PN28, A6NHN0, B2RNN3, O75973, O88992, P02745, P02746, P08125, P0C862, P23206, P23435, P63182, P83371, P86437, P98085, P98087, Q03692, Q05306, Q05A80, Q06577

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	176
Likely benign	10
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

1443 predictions. Top by Δscore:

Variant	Effect	Δscore
4:89927787:A:AG	acceptor_gain	1.0000
4:89927787:ATAT:A	acceptor_gain	1.0000
4:89927788:T:G	acceptor_gain	1.0000
4:89927789:A:AG	acceptor_gain	1.0000
4:89927789:AT:A	acceptor_gain	1.0000
4:89927790:T:G	acceptor_gain	1.0000
4:89927790:T:TA	acceptor_gain	1.0000
4:89927790:TGCAG:T	acceptor_loss	1.0000
4:89927793:A:AG	acceptor_gain	1.0000
4:89927793:A:C	acceptor_loss	1.0000
4:89927794:G:GC	acceptor_gain	1.0000
4:89927794:GA:G	acceptor_gain	1.0000
4:89927794:GAA:G	acceptor_gain	1.0000
4:89927794:GAAGT:G	acceptor_gain	1.0000
4:89927964:AAAAG:A	donor_loss	1.0000
4:89927965:AAAGG:A	donor_loss	1.0000
4:89927966:AAGGT:A	donor_loss	1.0000
4:89927967:AGGTA:A	donor_loss	1.0000
4:89927968:GGT:G	donor_loss	1.0000
4:89927969:G:GC	donor_loss	1.0000
4:89927970:T:G	donor_loss	1.0000
4:89951597:C:A	acceptor_gain	1.0000
4:89951600:A:AG	acceptor_gain	1.0000
4:89951603:A:AG	acceptor_gain	1.0000
4:89951603:AGAG:A	acceptor_gain	1.0000
4:89951604:G:GG	acceptor_gain	1.0000
4:89951604:GAGG:G	acceptor_gain	1.0000
4:89951604:GAGGA:G	acceptor_gain	1.0000
4:89952995:A:AG	acceptor_gain	1.0000
4:89952996:G:GG	acceptor_gain	1.0000

AlphaMissense

8125 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:89912007:G:C	W269C	0.999
4:89912007:G:T	W269C	0.999
4:89912005:T:A	W269R	0.998
4:89912005:T:C	W269R	0.998
4:89909283:T:A	C211S	0.997
4:89909284:G:C	C211S	0.997
4:89912011:T:A	C271S	0.997
4:89912011:T:C	C271R	0.997
4:89912012:G:C	C271S	0.997
4:89912038:T:A	C280S	0.997
4:89912039:G:C	C280S	0.997
4:89951712:T:A	C1076S	0.997
4:89951713:G:C	C1076S	0.997
4:89951714:C:G	C1076W	0.997
4:89909282:G:C	W210C	0.996
4:89909282:G:T	W210C	0.996
4:89912013:C:G	C271W	0.996
4:89951679:T:C	C1065R	0.996
4:89951712:T:C	C1076R	0.996
4:89951713:G:A	C1076Y	0.996
4:89953158:G:A	G1143R	0.996
4:89953158:G:C	G1143R	0.996
4:89909285:T:G	C211W	0.995
4:89912014:T:C	C272R	0.995
4:89912038:T:C	C280R	0.995
4:89951685:T:C	C1067R	0.995
4:89909283:T:C	C211R	0.994
4:89912012:G:A	C271Y	0.994
4:89912014:T:A	C272S	0.994
4:89912015:G:C	C272S	0.994

dbSNP variants (sampled 300 via entrez): RS1000011673 (4:89938850 A>G), RS1000074317 (4:89900145 A>C), RS1000076779 (4:89880950 C>A,T), RS1000083900 (4:89934538 G>A,C), RS10001067 (4:89897065 C>G,T), RS1000149897 (4:89904866 C>T), RS1000222336 (4:89913662 C>T), RS1000262266 (4:89922557 T>A,C), RS1000263931 (4:89877552 T>C), RS1000339524 (4:89916145 G>A), RS1000342260 (4:89922731 A>G), RS1000344797 (4:89894449 G>T), RS1000376921 (4:89910365 C>T), RS1000384869 (4:89888782 A>C,G), RS1000434294 (4:89916876 C>T)

Disease associations

OMIM: gene MIM:601456 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
male infertility with azoospermia or oligozoospermia due to single gene mutation	Moderate	Autosomal recessive

Mondo (1): (MONDO:0018393)

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000528_9	Parkinson’s disease	1.000000e-07
GCST008522_77	Bitter alcoholic beverage consumption	5.000000e-06
GCST90000025_275	Appendicular lean mass	3.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0010092	bitter alcoholic beverage consumption measurement
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
trichostatin A	increases expression, affects cotreatment	3
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
2,4,6-tribromophenol	increases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	increases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	increases expression	1
di-n-butylphosphoric acid	affects 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	increases expression, affects cotreatment	1
dorsomorphin	increases expression, affects cotreatment	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
2,6-dichloro-(1,4)benzoquinone	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Progesterone	increases expression	1
Tretinoin	increases expression	1
Medroxyprogesterone Acetate	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1XC	Abcam HeLa MMRN1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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